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<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "preterm labor" and a chemical "corticosteroid". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cardiovascular complications associated with terbutaline treatment for preterm labor. - Abstract of the article: Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Potential mechanisms of the pathophysiology are briefly discussed. Tips for Analysis: Sentences mentioning a disease "preterm labor": 1. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. 2. Cardiovascular complications associated with terbutaline treatment for preterm labor. Sentences mentioning a chemical "corticosteroid": 1. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Sentences mentioning both entities a disease "preterm labor" and a chemical "corticosteroid": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "preterm labor" and a chemical "corticosteroid" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "terbutaline" and a chemical "corticosteroid". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cardiovascular complications associated with terbutaline treatment for preterm labor. - Abstract of the article: Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Potential mechanisms of the pathophysiology are briefly discussed. Tips for Analysis: Sentences mentioning a chemical "terbutaline": 1. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. 2. Cardiovascular complications associated with terbutaline treatment for preterm labor. Sentences mentioning a chemical "corticosteroid": 1. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Sentences mentioning both entities a chemical "terbutaline" and a chemical "corticosteroid": There is no sentence that contains both these two entities. Task: Identify the relationship between a chemical "terbutaline" and a chemical "corticosteroid" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "terbutaline" and a disease "preterm labor". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cardiovascular complications associated with terbutaline treatment for preterm labor. - Abstract of the article: Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Potential mechanisms of the pathophysiology are briefly discussed. Tips for Analysis: Sentences mentioning a chemical "terbutaline": 1. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. 2. Cardiovascular complications associated with terbutaline treatment for preterm labor. Sentences mentioning a disease "preterm labor": 1. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. 2. Cardiovascular complications associated with terbutaline treatment for preterm labor. Sentences mentioning both entities a chemical "terbutaline" and a disease "preterm labor": 1. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. 2. Cardiovascular complications associated with terbutaline treatment for preterm labor. Task: Identify the relationship between a chemical "terbutaline" and a disease "preterm labor" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "cardiovascular complications" and a chemical "corticosteroid". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cardiovascular complications associated with terbutaline treatment for preterm labor. - Abstract of the article: Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Potential mechanisms of the pathophysiology are briefly discussed. Tips for Analysis: Sentences mentioning a disease "cardiovascular complications": 1. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. 2. Cardiovascular complications associated with terbutaline treatment for preterm labor. Sentences mentioning a chemical "corticosteroid": 1. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Sentences mentioning both entities a disease "cardiovascular complications" and a chemical "corticosteroid": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "cardiovascular complications" and a chemical "corticosteroid" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "Cardiovascular complications" and a chemical "terbutaline". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cardiovascular complications associated with terbutaline treatment for preterm labor. - Abstract of the article: Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. Associated corticosteroid therapy and twin gestations appear to be predisposing factors. Potential mechanisms of the pathophysiology are briefly discussed. Tips for Analysis: Sentences mentioning a disease "Cardiovascular complications": 1. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. 2. Cardiovascular complications associated with terbutaline treatment for preterm labor. Sentences mentioning a chemical "terbutaline": 1. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. 2. Cardiovascular complications associated with terbutaline treatment for preterm labor. Sentences mentioning both entities a disease "Cardiovascular complications" and a chemical "terbutaline": 1. Severe cardiovascular complications occurred in eight of 160 patients treated with terbutaline for preterm labor. 2. Cardiovascular complications associated with terbutaline treatment for preterm labor. Task: Identify the relationship between a disease "Cardiovascular complications" and a chemical "terbutaline" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "deficiency of the normal VLCAD protein" and a chemical "long-chain fatty acid". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. - Abstract of the article: Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced. The cDNA inserts of these clones together encompass a region of 2, 177 bases, encoding the entire protein of 655 amino acids, including a 40-amino acid leader peptide and a 615-amino acid mature polypeptide. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. In both patients, a 105-bp deletion encompassing bases 1078-1182 in VLCAD cDNA was identified. The deletion seems to occur due to exon skipping during processing of VLCAD pre-mRNA. This is the first demonstration of a mutation causing VLCAD deficiency. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Tips for Analysis: Sentences mentioning a disease "deficiency of the normal VLCAD protein": 1. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. 2. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. 3. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. 4. This is the first demonstration of a mutation causing VLCAD deficiency. Sentences mentioning a chemical "long-chain fatty acid": 1. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. Sentences mentioning both entities a disease "deficiency of the normal VLCAD protein" and a chemical "long-chain fatty acid": 1. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. Task: Identify the relationship between a disease "deficiency of the normal VLCAD protein" and a chemical "long-chain fatty acid" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "VLCAD-deficient" and a variant "105-bp deletion encompassing bases 1078-1182". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. - Abstract of the article: Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced. The cDNA inserts of these clones together encompass a region of 2, 177 bases, encoding the entire protein of 655 amino acids, including a 40-amino acid leader peptide and a 615-amino acid mature polypeptide. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. In both patients, a 105-bp deletion encompassing bases 1078-1182 in VLCAD cDNA was identified. The deletion seems to occur due to exon skipping during processing of VLCAD pre-mRNA. This is the first demonstration of a mutation causing VLCAD deficiency. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Tips for Analysis: Sentences mentioning a disease "VLCAD-deficient": 1. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. 2. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. 3. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. 4. This is the first demonstration of a mutation causing VLCAD deficiency. Sentences mentioning a variant "105-bp deletion encompassing bases 1078-1182": 1. In both patients, a 105-bp deletion encompassing bases 1078-1182 in VLCAD cDNA was identified. Sentences mentioning both entities a disease "VLCAD-deficient" and a variant "105-bp deletion encompassing bases 1078-1182": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "VLCAD-deficient" and a variant "105-bp deletion encompassing bases 1078-1182" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "VLCAD-deficient" and a gene or protein "VLCAD". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. - Abstract of the article: Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced. The cDNA inserts of these clones together encompass a region of 2, 177 bases, encoding the entire protein of 655 amino acids, including a 40-amino acid leader peptide and a 615-amino acid mature polypeptide. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. In both patients, a 105-bp deletion encompassing bases 1078-1182 in VLCAD cDNA was identified. The deletion seems to occur due to exon skipping during processing of VLCAD pre-mRNA. This is the first demonstration of a mutation causing VLCAD deficiency. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Tips for Analysis: Sentences mentioning a disease "VLCAD-deficient": 1. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. 2. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. 3. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. 4. This is the first demonstration of a mutation causing VLCAD deficiency. Sentences mentioning a gene or protein "VLCAD": 1. Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. 2. Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced. 3. In both patients, a 105-bp deletion encompassing bases 1078-1182 in VLCAD cDNA was identified. 4. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. 5. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. 6. The deletion seems to occur due to exon skipping during processing of VLCAD pre-mRNA. 7. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. Sentences mentioning both entities a disease "VLCAD-deficient" and a gene or protein "VLCAD": 1. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. 2. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. 3. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Task: Identify the relationship between a disease "VLCAD-deficient" and a gene or protein "VLCAD" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "palmitic acid" and a disease "VLCAD deficiency". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. - Abstract of the article: Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced. The cDNA inserts of these clones together encompass a region of 2, 177 bases, encoding the entire protein of 655 amino acids, including a 40-amino acid leader peptide and a 615-amino acid mature polypeptide. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. In both patients, a 105-bp deletion encompassing bases 1078-1182 in VLCAD cDNA was identified. The deletion seems to occur due to exon skipping during processing of VLCAD pre-mRNA. This is the first demonstration of a mutation causing VLCAD deficiency. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Tips for Analysis: Sentences mentioning a chemical "palmitic acid": 1. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Sentences mentioning a disease "VLCAD deficiency": 1. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. 2. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. 3. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. 4. This is the first demonstration of a mutation causing VLCAD deficiency. Sentences mentioning both entities a chemical "palmitic acid" and a disease "VLCAD deficiency": 1. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Task: Identify the relationship between a chemical "palmitic acid" and a disease "VLCAD deficiency" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "VLCAD" and a chemical "palmitic acid". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. - Abstract of the article: Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced. The cDNA inserts of these clones together encompass a region of 2, 177 bases, encoding the entire protein of 655 amino acids, including a 40-amino acid leader peptide and a 615-amino acid mature polypeptide. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. In both patients, a 105-bp deletion encompassing bases 1078-1182 in VLCAD cDNA was identified. The deletion seems to occur due to exon skipping during processing of VLCAD pre-mRNA. This is the first demonstration of a mutation causing VLCAD deficiency. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Tips for Analysis: Sentences mentioning a gene or protein "VLCAD": 1. Cloning of human very-long-chain acyl-coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients. 2. Two overlapping cDNA clones (1, 991 bp and 736 bp, respectively) encoding the precursor of human mitochondrial very-long-chain acyl-coenzyme A dehydrogenase (VLCAD) were cloned and sequenced. 3. In both patients, a 105-bp deletion encompassing bases 1078-1182 in VLCAD cDNA was identified. 4. PCR-amplified VLCAD cDNAs were sequenced in cultured fibroblasts from two VLCAD-deficient patients. 5. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. 6. The deletion seems to occur due to exon skipping during processing of VLCAD pre-mRNA. 7. Quantitative cDNA expression of normal human VLCAD was performed in the patients fibroblasts, using vaccinia viral system, which demonstrated that the deficiency of the normal VLCAD protein causes impaired long-chain fatty acid beta-oxidation activity in the patients fibroblasts. Sentences mentioning a chemical "palmitic acid": 1. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Sentences mentioning both entities a gene or protein "VLCAD" and a chemical "palmitic acid": 1. In patient fibroblasts, raising VLCAD activity to approximately 20% of normal control fibroblast activity raised palmitic acid beta-oxidation flux to the level found in control fibroblasts, which may offer important information for the rational design of future somatic gene therapy for VLCAD deficiency.. Task: Identify the relationship between a gene or protein "VLCAD" and a chemical "palmitic acid" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "neuropsychiatric disorders" and a gene or protein "h mu OR1". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Human mu opiate receptor. cDNA and genomic clones, pharmacologic characterization and chromosomal assignment. - Abstract of the article: A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. The human mu opiate receptor (h mu OR1) shares 95% amino acid identity with the rat sequence. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. An 18 kb genomic clone hybridizing with the h mu OR1 cDNA contains 63 and 489 bp exonic sequences flanked by splice donor/acceptor sequences. Analysis of hybridization to DNA prepared from human rodent hybrid cell lines and chromosomal in situ hybridization studies indicate localization to 6q24-25. An MspI polymorphism, producing a 3.7 kb band, may prove useful in assessing this gene's involvement in neuropsychiatric disorders involving opiatergic systems. Tips for Analysis: Sentences mentioning a disease "neuropsychiatric disorders": 1. An MspI polymorphism, producing a 3.7 kb band, may prove useful in assessing this gene's involvement in neuropsychiatric disorders involving opiatergic systems. Sentences mentioning a gene or protein "h mu OR1": 1. The human mu opiate receptor (h mu OR1) shares 95% amino acid identity with the rat sequence. 2. A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. 3. Human mu opiate receptor. 4. An 18 kb genomic clone hybridizing with the h mu OR1 cDNA contains 63 and 489 bp exonic sequences flanked by splice donor/acceptor sequences. Sentences mentioning both entities a disease "neuropsychiatric disorders" and a gene or protein "h mu OR1": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "neuropsychiatric disorders" and a gene or protein "h mu OR1" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "cyclic AMP" and a gene or protein "mu opiate receptor". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Human mu opiate receptor. cDNA and genomic clones, pharmacologic characterization and chromosomal assignment. - Abstract of the article: A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. The human mu opiate receptor (h mu OR1) shares 95% amino acid identity with the rat sequence. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. An 18 kb genomic clone hybridizing with the h mu OR1 cDNA contains 63 and 489 bp exonic sequences flanked by splice donor/acceptor sequences. Analysis of hybridization to DNA prepared from human rodent hybrid cell lines and chromosomal in situ hybridization studies indicate localization to 6q24-25. An MspI polymorphism, producing a 3.7 kb band, may prove useful in assessing this gene's involvement in neuropsychiatric disorders involving opiatergic systems. Tips for Analysis: Sentences mentioning a chemical "cyclic AMP": 1. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. Sentences mentioning a gene or protein "mu opiate receptor": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. 2. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. 3. A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. Sentences mentioning both entities a chemical "cyclic AMP" and a gene or protein "mu opiate receptor": 1. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. Task: Identify the relationship between a chemical "cyclic AMP" and a gene or protein "mu opiate receptor" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "GTP" and a gene or protein "mu opiate receptor". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Human mu opiate receptor. cDNA and genomic clones, pharmacologic characterization and chromosomal assignment. - Abstract of the article: A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. The human mu opiate receptor (h mu OR1) shares 95% amino acid identity with the rat sequence. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. An 18 kb genomic clone hybridizing with the h mu OR1 cDNA contains 63 and 489 bp exonic sequences flanked by splice donor/acceptor sequences. Analysis of hybridization to DNA prepared from human rodent hybrid cell lines and chromosomal in situ hybridization studies indicate localization to 6q24-25. An MspI polymorphism, producing a 3.7 kb band, may prove useful in assessing this gene's involvement in neuropsychiatric disorders involving opiatergic systems. Tips for Analysis: Sentences mentioning a chemical "GTP": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Sentences mentioning a gene or protein "mu opiate receptor": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. 2. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. 3. A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. Sentences mentioning both entities a chemical "GTP" and a gene or protein "mu opiate receptor": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Task: Identify the relationship between a chemical "GTP" and a gene or protein "mu opiate receptor" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "mu OR1" and a chemical "opioid peptides". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Human mu opiate receptor. cDNA and genomic clones, pharmacologic characterization and chromosomal assignment. - Abstract of the article: A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. The human mu opiate receptor (h mu OR1) shares 95% amino acid identity with the rat sequence. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. An 18 kb genomic clone hybridizing with the h mu OR1 cDNA contains 63 and 489 bp exonic sequences flanked by splice donor/acceptor sequences. Analysis of hybridization to DNA prepared from human rodent hybrid cell lines and chromosomal in situ hybridization studies indicate localization to 6q24-25. An MspI polymorphism, producing a 3.7 kb band, may prove useful in assessing this gene's involvement in neuropsychiatric disorders involving opiatergic systems. Tips for Analysis: Sentences mentioning a gene or protein "mu OR1": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. 2. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. 3. A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. Sentences mentioning a chemical "opioid peptides": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Sentences mentioning both entities a gene or protein "mu OR1" and a chemical "opioid peptides": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Task: Identify the relationship between a gene or protein "mu OR1" and a chemical "opioid peptides" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "mu OR1" and a chemical "opiate". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Human mu opiate receptor. cDNA and genomic clones, pharmacologic characterization and chromosomal assignment. - Abstract of the article: A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. The human mu opiate receptor (h mu OR1) shares 95% amino acid identity with the rat sequence. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. An 18 kb genomic clone hybridizing with the h mu OR1 cDNA contains 63 and 489 bp exonic sequences flanked by splice donor/acceptor sequences. Analysis of hybridization to DNA prepared from human rodent hybrid cell lines and chromosomal in situ hybridization studies indicate localization to 6q24-25. An MspI polymorphism, producing a 3.7 kb band, may prove useful in assessing this gene's involvement in neuropsychiatric disorders involving opiatergic systems. Tips for Analysis: Sentences mentioning a gene or protein "mu OR1": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. 2. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. 3. A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. Sentences mentioning a chemical "opiate": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Sentences mentioning both entities a gene or protein "mu OR1" and a chemical "opiate": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Task: Identify the relationship between a gene or protein "mu OR1" and a chemical "opiate" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "sodium" and a gene or protein "mu OR1". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Human mu opiate receptor. cDNA and genomic clones, pharmacologic characterization and chromosomal assignment. - Abstract of the article: A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. The human mu opiate receptor (h mu OR1) shares 95% amino acid identity with the rat sequence. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. An 18 kb genomic clone hybridizing with the h mu OR1 cDNA contains 63 and 489 bp exonic sequences flanked by splice donor/acceptor sequences. Analysis of hybridization to DNA prepared from human rodent hybrid cell lines and chromosomal in situ hybridization studies indicate localization to 6q24-25. An MspI polymorphism, producing a 3.7 kb band, may prove useful in assessing this gene's involvement in neuropsychiatric disorders involving opiatergic systems. Tips for Analysis: Sentences mentioning a chemical "sodium": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Sentences mentioning a gene or protein "mu OR1": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. 2. Effects on cyclic AMP are similar to those noted for the rat mu opiate receptor. 3. A human mu opiate receptor cDNA has been identified from a cerebral cortical cDNA library using sequences from the rat mu opiate receptor cDNA. Sentences mentioning both entities a chemical "sodium" and a gene or protein "mu OR1": 1. The expressed mu OR1 recognized tested opiate drugs and opioid peptides in a sodium- and GTP-sensitive fashion with affinities virtually identical to those displayed by the rat mu opiate receptor. Task: Identify the relationship between a chemical "sodium" and a gene or protein "mu OR1" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "X-linked adrenoleukodystrophy" and a gene or protein "Adrenoleukodystrophy gene". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Adrenoleukodystrophy gene encodes an 80 kDa membrane protein. - Abstract of the article: An antibody against the synthetic C-terminal peptides deduced from the cDNA of the gene responsible for X-linked adrenoleukodystrophy (ALD) was produced to characterize the product of the ALD gene. The antibody reacted with the 80 kDa band protein in control fibroblasts, while no bands were detected in the fibroblasts from a patient with ALD (# 163), in which mRNA of the ALD gene was undetectable based on Northern blot analysis. The 293T cells transfected with the full-coding cDNA inserted in the expression vector produced a new 80 kDa protein, as detected by Western blot. In an immunocytological study, the staining was in a punctate pattern, in the normal fibroblasts. However, there was no punctate staining in the # 163 cells. These data thus indicate that the ALD gene encodes an 80 kDa membrane protein.. Tips for Analysis: Sentences mentioning a disease "X-linked adrenoleukodystrophy": 1. An antibody against the synthetic C-terminal peptides deduced from the cDNA of the gene responsible for X-linked adrenoleukodystrophy (ALD) was produced to characterize the product of the ALD gene. 2. The antibody reacted with the 80 kDa band protein in control fibroblasts, while no bands were detected in the fibroblasts from a patient with ALD (# 163), in which mRNA of the ALD gene was undetectable based on Northern blot analysis. Sentences mentioning a gene or protein "Adrenoleukodystrophy gene": 1. These data thus indicate that the ALD gene encodes an 80 kDa membrane protein.. 2. An antibody against the synthetic C-terminal peptides deduced from the cDNA of the gene responsible for X-linked adrenoleukodystrophy (ALD) was produced to characterize the product of the ALD gene. 3. The antibody reacted with the 80 kDa band protein in control fibroblasts, while no bands were detected in the fibroblasts from a patient with ALD (# 163), in which mRNA of the ALD gene was undetectable based on Northern blot analysis. 4. Adrenoleukodystrophy gene encodes an 80 kDa membrane protein. Sentences mentioning both entities a disease "X-linked adrenoleukodystrophy" and a gene or protein "Adrenoleukodystrophy gene": 1. An antibody against the synthetic C-terminal peptides deduced from the cDNA of the gene responsible for X-linked adrenoleukodystrophy (ALD) was produced to characterize the product of the ALD gene. 2. The antibody reacted with the 80 kDa band protein in control fibroblasts, while no bands were detected in the fibroblasts from a patient with ALD (# 163), in which mRNA of the ALD gene was undetectable based on Northern blot analysis. Task: Identify the relationship between a disease "X-linked adrenoleukodystrophy" and a gene or protein "Adrenoleukodystrophy gene" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "ATM" and a disease "cerebellar ataxia". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Mutations associated with variant phenotypes in ataxia-telangiectasia. - Abstract of the article: We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site. The second A-T allele has a different mutation in each patient. We show that the less severe phenotype in these patients is caused by some degree of normal splicing, which occurs as an alternative product from the insertion-containing allele. The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia. A further four families who do not have this insertion have been identified. Mutations detected in two of four of these are missense mutations, normally rare in A-T patients. The demonstration of mutations giving rise to a slightly milder phenotype in A-T raises the interesting question of what range of phenotypes might occur in individuals in whom both mutations are milder. One possibility might be that individuals who are compound heterozygotes for ATM mutations are more common than we realize.. Tips for Analysis: Sentences mentioning a gene or protein "ATM": 1. One possibility might be that individuals who are compound heterozygotes for ATM mutations are more common than we realize.. 2. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). Sentences mentioning a disease "cerebellar ataxia": 1. The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia. Sentences mentioning both entities a gene or protein "ATM" and a disease "cerebellar ataxia": There is no sentence that contains both these two entities. Task: Identify the relationship between a gene or protein "ATM" and a disease "cerebellar ataxia" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "A-T" and a gene or protein "ATM". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Mutations associated with variant phenotypes in ataxia-telangiectasia. - Abstract of the article: We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site. The second A-T allele has a different mutation in each patient. We show that the less severe phenotype in these patients is caused by some degree of normal splicing, which occurs as an alternative product from the insertion-containing allele. The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia. A further four families who do not have this insertion have been identified. Mutations detected in two of four of these are missense mutations, normally rare in A-T patients. The demonstration of mutations giving rise to a slightly milder phenotype in A-T raises the interesting question of what range of phenotypes might occur in individuals in whom both mutations are milder. One possibility might be that individuals who are compound heterozygotes for ATM mutations are more common than we realize.. Tips for Analysis: Sentences mentioning a disease "A-T": 1. Mutations associated with variant phenotypes in ataxia-telangiectasia. 2. Mutations detected in two of four of these are missense mutations, normally rare in A-T patients. 3. The demonstration of mutations giving rise to a slightly milder phenotype in A-T raises the interesting question of what range of phenotypes might occur in individuals in whom both mutations are milder. 4. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). 5. The second A-T allele has a different mutation in each patient. Sentences mentioning a gene or protein "ATM": 1. One possibility might be that individuals who are compound heterozygotes for ATM mutations are more common than we realize.. 2. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). Sentences mentioning both entities a disease "A-T" and a gene or protein "ATM": 1. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). Task: Identify the relationship between a disease "A-T" and a gene or protein "ATM" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "137-bp insertion" and a disease "cerebellar ataxia". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Mutations associated with variant phenotypes in ataxia-telangiectasia. - Abstract of the article: We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site. The second A-T allele has a different mutation in each patient. We show that the less severe phenotype in these patients is caused by some degree of normal splicing, which occurs as an alternative product from the insertion-containing allele. The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia. A further four families who do not have this insertion have been identified. Mutations detected in two of four of these are missense mutations, normally rare in A-T patients. The demonstration of mutations giving rise to a slightly milder phenotype in A-T raises the interesting question of what range of phenotypes might occur in individuals in whom both mutations are milder. One possibility might be that individuals who are compound heterozygotes for ATM mutations are more common than we realize.. Tips for Analysis: Sentences mentioning a variant "137-bp insertion": 1. In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site. Sentences mentioning a disease "cerebellar ataxia": 1. The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia. Sentences mentioning both entities a variant "137-bp insertion" and a disease "cerebellar ataxia": There is no sentence that contains both these two entities. Task: Identify the relationship between a variant "137-bp insertion" and a disease "cerebellar ataxia" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "137-bp insertion" and a disease "A-T". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Mutations associated with variant phenotypes in ataxia-telangiectasia. - Abstract of the article: We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site. The second A-T allele has a different mutation in each patient. We show that the less severe phenotype in these patients is caused by some degree of normal splicing, which occurs as an alternative product from the insertion-containing allele. The level of the 137-bp PCR product containing the insertion was lowest in two patients who showed a later onset of cerebellar ataxia. A further four families who do not have this insertion have been identified. Mutations detected in two of four of these are missense mutations, normally rare in A-T patients. The demonstration of mutations giving rise to a slightly milder phenotype in A-T raises the interesting question of what range of phenotypes might occur in individuals in whom both mutations are milder. One possibility might be that individuals who are compound heterozygotes for ATM mutations are more common than we realize.. Tips for Analysis: Sentences mentioning a variant "137-bp insertion": 1. In 10 of these families, all the homozygotes have a 137-bp insertion in their cDNA caused by a point mutation in a sequence resembling a splice-donor site. Sentences mentioning a disease "A-T": 1. Mutations associated with variant phenotypes in ataxia-telangiectasia. 2. Mutations detected in two of four of these are missense mutations, normally rare in A-T patients. 3. The demonstration of mutations giving rise to a slightly milder phenotype in A-T raises the interesting question of what range of phenotypes might occur in individuals in whom both mutations are milder. 4. We have identified 14 families with ataxia-telangiectasia (A-T) in which mutation of the ATM gene is associated with a less severe clinical and cellular phenotype (approximately 10% -15% of A-T families identified in the United Kingdom). 5. The second A-T allele has a different mutation in each patient. Sentences mentioning both entities a variant "137-bp insertion" and a disease "A-T": There is no sentence that contains both these two entities. Task: Identify the relationship between a variant "137-bp insertion" and a disease "A-T" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "Myotonic dystrophy" and a gene or protein "Myotonic dystrophy protein kinase". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. - Abstract of the article: Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG) n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis. To obtain clues to the normal biological role of DMPK in cellular ion homeostasis, we have compared the resting [Ca2 +] i, the amplitude and shape of depolarization-induced Ca2 + transients, and the content of ATP-driven ion pumps in cultured skeletal muscle cells of wild-type and DMPK [-/-] knockout mice. In vitro-differentiated DMPK [-/-] myotubes exhibit a higher resting [Ca2 +] i than do wild-type myotubes because of an altered open probability of voltage-dependent l-type Ca2 + and Na + channels. The mutant myotubes exhibit smaller and slower Ca2 + responses upon triggering by acetylcholine or high external K +. In addition, we observed that these Ca2 + transients partially result from an influx of extracellular Ca2 + through the l-type Ca2 + channel. Neither the content nor the activity of Na +/K + ATPase and sarcoplasmic reticulum Ca2 + -ATPase are affected by DMPK absence. In conclusion, our data suggest that DMPK is involved in modulating the initial events of excitation-contraction coupling in skeletal muscle.. Tips for Analysis: Sentences mentioning a disease "Myotonic dystrophy": 1. Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG) n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis. Sentences mentioning a gene or protein "Myotonic dystrophy protein kinase": 1. To obtain clues to the normal biological role of DMPK in cellular ion homeostasis, we have compared the resting [Ca2 +] i, the amplitude and shape of depolarization-induced Ca2 + transients, and the content of ATP-driven ion pumps in cultured skeletal muscle cells of wild-type and DMPK [-/-] knockout mice. 2. Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. 3. In conclusion, our data suggest that DMPK is involved in modulating the initial events of excitation-contraction coupling in skeletal muscle.. 4. Neither the content nor the activity of Na +/K + ATPase and sarcoplasmic reticulum Ca2 + -ATPase are affected by DMPK absence. 5. Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG) n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis. 6. In vitro-differentiated DMPK [-/-] myotubes exhibit a higher resting [Ca2 +] i than do wild-type myotubes because of an altered open probability of voltage-dependent l-type Ca2 + and Na + channels. Sentences mentioning both entities a disease "Myotonic dystrophy" and a gene or protein "Myotonic dystrophy protein kinase": 1. Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG) n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis. Task: Identify the relationship between a disease "Myotonic dystrophy" and a gene or protein "Myotonic dystrophy protein kinase" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "Ca2+" and a gene or protein "Myotonic dystrophy protein kinase". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. - Abstract of the article: Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG) n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis. To obtain clues to the normal biological role of DMPK in cellular ion homeostasis, we have compared the resting [Ca2 +] i, the amplitude and shape of depolarization-induced Ca2 + transients, and the content of ATP-driven ion pumps in cultured skeletal muscle cells of wild-type and DMPK [-/-] knockout mice. In vitro-differentiated DMPK [-/-] myotubes exhibit a higher resting [Ca2 +] i than do wild-type myotubes because of an altered open probability of voltage-dependent l-type Ca2 + and Na + channels. The mutant myotubes exhibit smaller and slower Ca2 + responses upon triggering by acetylcholine or high external K +. In addition, we observed that these Ca2 + transients partially result from an influx of extracellular Ca2 + through the l-type Ca2 + channel. Neither the content nor the activity of Na +/K + ATPase and sarcoplasmic reticulum Ca2 + -ATPase are affected by DMPK absence. In conclusion, our data suggest that DMPK is involved in modulating the initial events of excitation-contraction coupling in skeletal muscle.. Tips for Analysis: Sentences mentioning a chemical "Ca2+": 1. To obtain clues to the normal biological role of DMPK in cellular ion homeostasis, we have compared the resting [Ca2 +] i, the amplitude and shape of depolarization-induced Ca2 + transients, and the content of ATP-driven ion pumps in cultured skeletal muscle cells of wild-type and DMPK [-/-] knockout mice. 2. Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. 3. The mutant myotubes exhibit smaller and slower Ca2 + responses upon triggering by acetylcholine or high external K +. 4. In vitro-differentiated DMPK [-/-] myotubes exhibit a higher resting [Ca2 +] i than do wild-type myotubes because of an altered open probability of voltage-dependent l-type Ca2 + and Na + channels. 5. In addition, we observed that these Ca2 + transients partially result from an influx of extracellular Ca2 + through the l-type Ca2 + channel. Sentences mentioning a gene or protein "Myotonic dystrophy protein kinase": 1. To obtain clues to the normal biological role of DMPK in cellular ion homeostasis, we have compared the resting [Ca2 +] i, the amplitude and shape of depolarization-induced Ca2 + transients, and the content of ATP-driven ion pumps in cultured skeletal muscle cells of wild-type and DMPK [-/-] knockout mice. 2. Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. 3. In conclusion, our data suggest that DMPK is involved in modulating the initial events of excitation-contraction coupling in skeletal muscle.. 4. Neither the content nor the activity of Na +/K + ATPase and sarcoplasmic reticulum Ca2 + -ATPase are affected by DMPK absence. 5. Myotonic dystrophy (DM), the most prevalent muscular disorder in adults, is caused by (CTG) n-repeat expansion in a gene encoding a protein kinase (DM protein kinase; DMPK) and involves changes in cytoarchitecture and ion homeostasis. 6. In vitro-differentiated DMPK [-/-] myotubes exhibit a higher resting [Ca2 +] i than do wild-type myotubes because of an altered open probability of voltage-dependent l-type Ca2 + and Na + channels. Sentences mentioning both entities a chemical "Ca2+" and a gene or protein "Myotonic dystrophy protein kinase": 1. In vitro-differentiated DMPK [-/-] myotubes exhibit a higher resting [Ca2 +] i than do wild-type myotubes because of an altered open probability of voltage-dependent l-type Ca2 + and Na + channels. 2. To obtain clues to the normal biological role of DMPK in cellular ion homeostasis, we have compared the resting [Ca2 +] i, the amplitude and shape of depolarization-induced Ca2 + transients, and the content of ATP-driven ion pumps in cultured skeletal muscle cells of wild-type and DMPK [-/-] knockout mice. 3. Myotonic dystrophy protein kinase is involved in the modulation of the Ca2+ homeostasis in skeletal muscle cells. Task: Identify the relationship between a chemical "Ca2+" and a gene or protein "Myotonic dystrophy protein kinase" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "casein kinase II" and a disease "enzymatic complex I-deficient". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. - Abstract of the article: NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and hydrophobic protein (HP) subfraction. The IP subfraction is hypothesized to be significant, since it contains important prosthetic groups highly conserved among species. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. All presented cDNAs include the complete open reading frame (ORF), which consist of 1392, 795, and 375 base pairs, coding for 463, 264, and 124 amino acids, respectively. The latter show 96, 90, and 83% homology with the corresponding bovine translation products. The 3' untranslated regions (UTR) are complete in all three cDNAs. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Tips for Analysis: Sentences mentioning a gene or protein "casein kinase II": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Sentences mentioning a disease "enzymatic complex I-deficient": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Sentences mentioning both entities a gene or protein "casein kinase II" and a disease "enzymatic complex I-deficient": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Task: Identify the relationship between a gene or protein "casein kinase II" and a disease "enzymatic complex I-deficient" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "NDUFS3" and a gene or protein "NDUFS6". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. - Abstract of the article: NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and hydrophobic protein (HP) subfraction. The IP subfraction is hypothesized to be significant, since it contains important prosthetic groups highly conserved among species. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. All presented cDNAs include the complete open reading frame (ORF), which consist of 1392, 795, and 375 base pairs, coding for 463, 264, and 124 amino acids, respectively. The latter show 96, 90, and 83% homology with the corresponding bovine translation products. The 3' untranslated regions (UTR) are complete in all three cDNAs. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Tips for Analysis: Sentences mentioning a gene or protein "NDUFS3": 1. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. 2. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. 3. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning a gene or protein "NDUFS6": 1. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. 2. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning both entities a gene or protein "NDUFS3" and a gene or protein "NDUFS6": 1. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Task: Identify the relationship between a gene or protein "NDUFS3" and a gene or protein "NDUFS6" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Bind</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "NDUFS3" and a gene or protein "casein kinase II". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. - Abstract of the article: NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and hydrophobic protein (HP) subfraction. The IP subfraction is hypothesized to be significant, since it contains important prosthetic groups highly conserved among species. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. All presented cDNAs include the complete open reading frame (ORF), which consist of 1392, 795, and 375 base pairs, coding for 463, 264, and 124 amino acids, respectively. The latter show 96, 90, and 83% homology with the corresponding bovine translation products. The 3' untranslated regions (UTR) are complete in all three cDNAs. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Tips for Analysis: Sentences mentioning a gene or protein "NDUFS3": 1. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. 2. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. 3. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning a gene or protein "casein kinase II": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Sentences mentioning both entities a gene or protein "NDUFS3" and a gene or protein "casein kinase II": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Task: Identify the relationship between a gene or protein "NDUFS3" and a gene or protein "casein kinase II" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "NDUFS3" and a disease "enzymatic complex I-deficient". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. - Abstract of the article: NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and hydrophobic protein (HP) subfraction. The IP subfraction is hypothesized to be significant, since it contains important prosthetic groups highly conserved among species. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. All presented cDNAs include the complete open reading frame (ORF), which consist of 1392, 795, and 375 base pairs, coding for 463, 264, and 124 amino acids, respectively. The latter show 96, 90, and 83% homology with the corresponding bovine translation products. The 3' untranslated regions (UTR) are complete in all three cDNAs. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Tips for Analysis: Sentences mentioning a gene or protein "NDUFS3": 1. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. 2. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. 3. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning a disease "enzymatic complex I-deficient": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Sentences mentioning both entities a gene or protein "NDUFS3" and a disease "enzymatic complex I-deficient": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Task: Identify the relationship between a gene or protein "NDUFS3" and a disease "enzymatic complex I-deficient" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "protein kinase C" and a disease "enzymatic complex I-deficient". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. - Abstract of the article: NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and hydrophobic protein (HP) subfraction. The IP subfraction is hypothesized to be significant, since it contains important prosthetic groups highly conserved among species. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. All presented cDNAs include the complete open reading frame (ORF), which consist of 1392, 795, and 375 base pairs, coding for 463, 264, and 124 amino acids, respectively. The latter show 96, 90, and 83% homology with the corresponding bovine translation products. The 3' untranslated regions (UTR) are complete in all three cDNAs. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Tips for Analysis: Sentences mentioning a gene or protein "protein kinase C": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Sentences mentioning a disease "enzymatic complex I-deficient": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Sentences mentioning both entities a gene or protein "protein kinase C" and a disease "enzymatic complex I-deficient": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Task: Identify the relationship between a gene or protein "protein kinase C" and a disease "enzymatic complex I-deficient" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "NDUFS2" and a gene or protein "NDUFS6". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. - Abstract of the article: NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and hydrophobic protein (HP) subfraction. The IP subfraction is hypothesized to be significant, since it contains important prosthetic groups highly conserved among species. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. All presented cDNAs include the complete open reading frame (ORF), which consist of 1392, 795, and 375 base pairs, coding for 463, 264, and 124 amino acids, respectively. The latter show 96, 90, and 83% homology with the corresponding bovine translation products. The 3' untranslated regions (UTR) are complete in all three cDNAs. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Tips for Analysis: Sentences mentioning a gene or protein "NDUFS2": 1. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. 2. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. 3. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning a gene or protein "NDUFS6": 1. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. 2. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning both entities a gene or protein "NDUFS2" and a gene or protein "NDUFS6": 1. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Task: Identify the relationship between a gene or protein "NDUFS2" and a gene or protein "NDUFS6" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Bind</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "NDUFS2" and a gene or protein "NDUFS3". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. - Abstract of the article: NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and hydrophobic protein (HP) subfraction. The IP subfraction is hypothesized to be significant, since it contains important prosthetic groups highly conserved among species. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. All presented cDNAs include the complete open reading frame (ORF), which consist of 1392, 795, and 375 base pairs, coding for 463, 264, and 124 amino acids, respectively. The latter show 96, 90, and 83% homology with the corresponding bovine translation products. The 3' untranslated regions (UTR) are complete in all three cDNAs. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Tips for Analysis: Sentences mentioning a gene or protein "NDUFS2": 1. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. 2. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. 3. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning a gene or protein "NDUFS3": 1. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. 2. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. 3. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning both entities a gene or protein "NDUFS2" and a gene or protein "NDUFS3": 1. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. 2. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. 3. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Task: Identify the relationship between a gene or protein "NDUFS2" and a gene or protein "NDUFS3" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Bind</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "NDUFS2" and a disease "enzymatic complex I-deficient". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. - Abstract of the article: NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and hydrophobic protein (HP) subfraction. The IP subfraction is hypothesized to be significant, since it contains important prosthetic groups highly conserved among species. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. All presented cDNAs include the complete open reading frame (ORF), which consist of 1392, 795, and 375 base pairs, coding for 463, 264, and 124 amino acids, respectively. The latter show 96, 90, and 83% homology with the corresponding bovine translation products. The 3' untranslated regions (UTR) are complete in all three cDNAs. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Tips for Analysis: Sentences mentioning a gene or protein "NDUFS2": 1. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. 2. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. 3. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning a disease "enzymatic complex I-deficient": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Sentences mentioning both entities a gene or protein "NDUFS2" and a disease "enzymatic complex I-deficient": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Task: Identify the relationship between a gene or protein "NDUFS2" and a disease "enzymatic complex I-deficient" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "NDUFS2" and a gene or protein "protein kinase C". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed. - Abstract of the article: NADH:ubiquinone oxidoreductase (complex I) of the mitochondrial respiratory chain can be fragmented in a flavoprotein (FP), iron-sulfur protein (IP), and hydrophobic protein (HP) subfraction. The IP subfraction is hypothesized to be significant, since it contains important prosthetic groups highly conserved among species. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. All presented cDNAs include the complete open reading frame (ORF), which consist of 1392, 795, and 375 base pairs, coding for 463, 264, and 124 amino acids, respectively. The latter show 96, 90, and 83% homology with the corresponding bovine translation products. The 3' untranslated regions (UTR) are complete in all three cDNAs. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. In the case of the NDUFS6 subunit a pseudogene may be present since signals were seen in the lanes containing chromosomes 5 and 6. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Tips for Analysis: Sentences mentioning a gene or protein "NDUFS2": 1. Polymerase chain reaction performed with DNA isolated from somatic human-rodent cell hybrids containing defined human chromosomes as template gave a human-specific signal which mapped the NDUFS2 and NDUFS3 subunits to chromosomes 1 and 11, respectively. 2. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. 3. We cloned the cDNA of three remaining human NADH:ubiquinone oxidoreductase subunits of this IP fraction: the NDUFS2 (49 kDa), NDUFS3 (30 kDa), and NDUFS6 (13 kDa) subunits. Sentences mentioning a gene or protein "protein kinase C": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Sentences mentioning both entities a gene or protein "NDUFS2" and a gene or protein "protein kinase C": 1. The NDUFS2 contains a highly conserved protein kinase C phosphorylation site and the NDUFS3 subunit contains a highly conserved casein kinase II phosphorylation site which make them strong candidates for future mutation detection studies in enzymatic complex I-deficient patients. Task: Identify the relationship between a gene or protein "NDUFS2" and a gene or protein "protein kinase C" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "lamotrigine" and a chemical "ethosuximide". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a chemical "lamotrigine": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Sentences mentioning a chemical "ethosuximide": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Sentences mentioning both entities a chemical "lamotrigine" and a chemical "ethosuximide": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Task: Identify the relationship between a chemical "lamotrigine" and a chemical "ethosuximide" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. Your choice should be based on the context and tips provided. [/INST] Cotreatment</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "sodium valproate" and a chemical "ethosuximide". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a chemical "sodium valproate": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Sentences mentioning a chemical "ethosuximide": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Sentences mentioning both entities a chemical "sodium valproate" and a chemical "ethosuximide": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Task: Identify the relationship between a chemical "sodium valproate" and a chemical "ethosuximide" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. Your choice should be based on the context and tips provided. [/INST] Cotreatment</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "sodium valproate" and a chemical "lamotrigine". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a chemical "sodium valproate": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Sentences mentioning a chemical "lamotrigine": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Sentences mentioning both entities a chemical "sodium valproate" and a chemical "lamotrigine": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Task: Identify the relationship between a chemical "sodium valproate" and a chemical "lamotrigine" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. Your choice should be based on the context and tips provided. [/INST] Cotreatment</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "absence seizures" and a chemical "ethosuximide". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a disease "absence seizures": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Sentences mentioning a chemical "ethosuximide": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Sentences mentioning both entities a disease "absence seizures" and a chemical "ethosuximide": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "absence seizures" and a chemical "ethosuximide" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "absence seizures" and a chemical "lamotrigine". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a disease "absence seizures": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Sentences mentioning a chemical "lamotrigine": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Sentences mentioning both entities a disease "absence seizures" and a chemical "lamotrigine": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "absence seizures" and a chemical "lamotrigine" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "absence seizures" and a chemical "sodium valproate". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a disease "absence seizures": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Sentences mentioning a chemical "sodium valproate": 1. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Sentences mentioning both entities a disease "absence seizures" and a chemical "sodium valproate": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "absence seizures" and a chemical "sodium valproate" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Negative_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "absence seizures" and a chemical "vigabatrin". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a disease "absence seizures": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Sentences mentioning a chemical "vigabatrin": 1. Vigabatrin was also used in the treatment of two children. 2. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 3. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. 4. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Sentences mentioning both entities a disease "absence seizures" and a chemical "vigabatrin": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Task: Identify the relationship between a disease "absence seizures" and a chemical "vigabatrin" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "absence seizures" and a chemical "Carbamazepine". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a disease "absence seizures": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Sentences mentioning a chemical "Carbamazepine": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. 3. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. 4. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Sentences mentioning both entities a disease "absence seizures" and a chemical "Carbamazepine": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Task: Identify the relationship between a disease "absence seizures" and a chemical "Carbamazepine" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "carbamazepine" and a chemical "vigabatrin". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a chemical "carbamazepine": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. 3. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. 4. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Sentences mentioning a chemical "vigabatrin": 1. Vigabatrin was also used in the treatment of two children. 2. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 3. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. 4. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Sentences mentioning both entities a chemical "carbamazepine" and a chemical "vigabatrin": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. Task: Identify the relationship between a chemical "carbamazepine" and a chemical "vigabatrin" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Drug_Interaction', 'Cotreatment', 'Conversion', 'Comparison', 'Association']. Your choice should be based on the context and tips provided. [/INST] Comparison</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "myoclonic jerks" and a chemical "carbamazepine". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. - Abstract of the article: Carbamazepine and vigabatrin are contraindicated in typical absence seizures. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Vigabatrin was also used in the treatment of two children. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Absences were aggravated in both cases where vigabatrin was added on to concurrent treatment. Optimal control of the absences was achieved with sodium valproate, lamotrigine, or ethosuximide alone or in combination. Tips for Analysis: Sentences mentioning a disease "myoclonic jerks": 1. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Sentences mentioning a chemical "carbamazepine": 1. Carbamazepine and vigabatrin are contraindicated in typical absence seizures. 2. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. 3. Inappropriate use of carbamazepine and vigabatrin in typical absence seizures. 4. Of 18 consecutive referrals of children with resistant typical absences only, eight were erroneously treated with carbamazepine either as monotherapy or as an add-on. Sentences mentioning both entities a disease "myoclonic jerks" and a chemical "carbamazepine": 1. Frequency of absences increased in four children treated with carbamazepine and two of these developed myoclonic jerks, which resolved on withdrawal of carbamazepine. Task: Identify the relationship between a disease "myoclonic jerks" and a chemical "carbamazepine" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "Ile232Thr" and a disease "systemic lupus erythematosus". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. - Abstract of the article: We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). Four polymorphisms and six rare variations were detected. The former constituted two major haplotypes that contained one or two repeats of 13 nucleotides in intron 8 (designated as 1 and 2, respectively). Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). RT-PCR identified a novel alternatively spliced (AS) transcript that was expressed at the protein level in COS-7 transfectants. The ratio of AS/common isoforms was strikingly increased in individuals with 2/2 genotype when compared with 1/1 (P=0.000038) or 1/2 (P=0.0085) genotypes. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). Minigene assays demonstrated that the 13-nucleotide repeat and 4 bp deletion within the same haplotype of intron 8 could regulate alternative splicing. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Tips for Analysis: Sentences mentioning a variant "Ile232Thr": 1. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. 2. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 3. We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Sentences mentioning a disease "systemic lupus erythematosus": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. 3. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 4. Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). 5. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 6. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. 7. We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Sentences mentioning both entities a variant "Ile232Thr" and a disease "systemic lupus erythematosus": 1. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. 2. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 3. We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Task: Identify the relationship between a variant "Ile232Thr" and a disease "systemic lupus erythematosus" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "nephritis" and a gene or protein "CD72". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. - Abstract of the article: We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). Four polymorphisms and six rare variations were detected. The former constituted two major haplotypes that contained one or two repeats of 13 nucleotides in intron 8 (designated as 1 and 2, respectively). Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). RT-PCR identified a novel alternatively spliced (AS) transcript that was expressed at the protein level in COS-7 transfectants. The ratio of AS/common isoforms was strikingly increased in individuals with 2/2 genotype when compared with 1/1 (P=0.000038) or 1/2 (P=0.0085) genotypes. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). Minigene assays demonstrated that the 13-nucleotide repeat and 4 bp deletion within the same haplotype of intron 8 could regulate alternative splicing. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Tips for Analysis: Sentences mentioning a disease "nephritis": 1. Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). Sentences mentioning a gene or protein "CD72": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 3. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 4. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Sentences mentioning both entities a disease "nephritis" and a gene or protein "CD72": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "nephritis" and a gene or protein "CD72" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "FCGR2B" and a disease "systemic lupus erythematosus". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. - Abstract of the article: We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). Four polymorphisms and six rare variations were detected. The former constituted two major haplotypes that contained one or two repeats of 13 nucleotides in intron 8 (designated as 1 and 2, respectively). Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). RT-PCR identified a novel alternatively spliced (AS) transcript that was expressed at the protein level in COS-7 transfectants. The ratio of AS/common isoforms was strikingly increased in individuals with 2/2 genotype when compared with 1/1 (P=0.000038) or 1/2 (P=0.0085) genotypes. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). Minigene assays demonstrated that the 13-nucleotide repeat and 4 bp deletion within the same haplotype of intron 8 could regulate alternative splicing. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Tips for Analysis: Sentences mentioning a gene or protein "FCGR2B": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. 3. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 4. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 5. We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Sentences mentioning a disease "systemic lupus erythematosus": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. 3. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 4. Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). 5. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 6. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. 7. We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Sentences mentioning both entities a gene or protein "FCGR2B" and a disease "systemic lupus erythematosus": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. 3. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 4. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 5. We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Task: Identify the relationship between a gene or protein "FCGR2B" and a disease "systemic lupus erythematosus" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "CD72" and a gene or protein "FCGR2B". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. - Abstract of the article: We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). Four polymorphisms and six rare variations were detected. The former constituted two major haplotypes that contained one or two repeats of 13 nucleotides in intron 8 (designated as 1 and 2, respectively). Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). RT-PCR identified a novel alternatively spliced (AS) transcript that was expressed at the protein level in COS-7 transfectants. The ratio of AS/common isoforms was strikingly increased in individuals with 2/2 genotype when compared with 1/1 (P=0.000038) or 1/2 (P=0.0085) genotypes. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). Minigene assays demonstrated that the 13-nucleotide repeat and 4 bp deletion within the same haplotype of intron 8 could regulate alternative splicing. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Tips for Analysis: Sentences mentioning a gene or protein "CD72": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 3. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 4. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Sentences mentioning a gene or protein "FCGR2B": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. 3. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 4. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 5. We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Sentences mentioning both entities a gene or protein "CD72" and a gene or protein "FCGR2B": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 3. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 4. These results indicated that the presence of CD72-*2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Task: Identify the relationship between a gene or protein "CD72" and a gene or protein "FCGR2B" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "SLE" and a gene or protein "CD72". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. - Abstract of the article: We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). Four polymorphisms and six rare variations were detected. The former constituted two major haplotypes that contained one or two repeats of 13 nucleotides in intron 8 (designated as 1 and 2, respectively). Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). RT-PCR identified a novel alternatively spliced (AS) transcript that was expressed at the protein level in COS-7 transfectants. The ratio of AS/common isoforms was strikingly increased in individuals with 2/2 genotype when compared with 1/1 (P=0.000038) or 1/2 (P=0.0085) genotypes. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). Minigene assays demonstrated that the 13-nucleotide repeat and 4 bp deletion within the same haplotype of intron 8 could regulate alternative splicing. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Tips for Analysis: Sentences mentioning a disease "SLE": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. 3. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 4. Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). 5. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 6. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. 7. We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Sentences mentioning a gene or protein "CD72": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 3. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 4. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Sentences mentioning both entities a disease "SLE" and a gene or protein "CD72": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 3. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 4. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Task: Identify the relationship between a disease "SLE" and a gene or protein "CD72" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "CD72" and a disease "SLE". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. - Abstract of the article: We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). Four polymorphisms and six rare variations were detected. The former constituted two major haplotypes that contained one or two repeats of 13 nucleotides in intron 8 (designated as 1 and 2, respectively). Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). RT-PCR identified a novel alternatively spliced (AS) transcript that was expressed at the protein level in COS-7 transfectants. The ratio of AS/common isoforms was strikingly increased in individuals with 2/2 genotype when compared with 1/1 (P=0.000038) or 1/2 (P=0.0085) genotypes. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). Minigene assays demonstrated that the 13-nucleotide repeat and 4 bp deletion within the same haplotype of intron 8 could regulate alternative splicing. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. Tips for Analysis: Sentences mentioning a gene or protein "CD72": 1. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. 2. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). Sentences mentioning a disease "SLE": 1. CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B. 2. These results indicated that the presence of CD72-2 allele decreases risk for human SLE conferred by FCGR2B-232Thr, possibly by increasing the AS isoform of CD72. 3. Using the two Asian cohorts, significant association of FCGR2B-232Thr/Thr with SLE was observed only in the presence of CD72-1/1 genotype (OR 4.63, 95% CI 1.47-14.6, P=0.009 versus FCGR2B-232Ile/Ile plus CD72-2/2). 4. Although association with susceptibility to SLE was not detected, the 1 allele was significantly associated with nephritis among the Japanese patients (P=0.024). 5. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). 6. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. 7. We previously reported association of FCGR2B-Ile232Thr with systemic lupus erythematosus (SLE) in three Asian populations. Sentences mentioning both entities a gene or protein "CD72" and a disease "SLE": 1. The AS isoform lacks exon 8, and is deduced to contain 49 amino acid changes in the membrane-distal portion of the extracellular domain, where considerable amino acid changes are known in CD72(c) allele associated with murine SLE. 2. Because polymorphism of CD72, another inhibitory receptor of B cells, was associated with murine SLE, we identified human CD72 polymorphisms, tested their association with SLE and examined genetic interaction with FCGR2B in the Japanese (160 SLE, 277 controls), Thais (87 SLE, 187 controls) and Caucasians (94 families containing SLE members). Task: Identify the relationship between a gene or protein "CD72" and a disease "SLE" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "G/A" and a disease "PC". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. - Abstract of the article: BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. DNA was extracted from blood and PSA/ARE promoter region amplified by PCR. PCR products were cut with Nhe 1 restriction enzyme to distinguish G/A alleles. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Furthermore the GG distribution within cases was even greater in younger men (< 65 years; 42%; P = 0.012). Additionally, when PSA genotype was cross classified with CAG repeat, significantly more cases than both BPH and population controls were observed to have a short (< 22) CAG/GG genotype (P = 0.006). CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Tips for Analysis: Sentences mentioning a variant "G/A": 1. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. 2. PCR products were cut with Nhe 1 restriction enzyme to distinguish G/A alleles. Sentences mentioning a disease "PC": 1. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. 2. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. 3. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. 4. CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. 5. BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. 6. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 7. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Sentences mentioning both entities a variant "G/A" and a disease "PC": There is no sentence that contains both these two entities. Task: Identify the relationship between a variant "G/A" and a disease "PC" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "glutamine repeat" and a disease "malignant disease". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. - Abstract of the article: BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. DNA was extracted from blood and PSA/ARE promoter region amplified by PCR. PCR products were cut with Nhe 1 restriction enzyme to distinguish G/A alleles. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Furthermore the GG distribution within cases was even greater in younger men (< 65 years; 42%; P = 0.012). Additionally, when PSA genotype was cross classified with CAG repeat, significantly more cases than both BPH and population controls were observed to have a short (< 22) CAG/GG genotype (P = 0.006). CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Tips for Analysis: Sentences mentioning a variant "glutamine repeat": 1. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Sentences mentioning a disease "malignant disease": 1. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Sentences mentioning both entities a variant "glutamine repeat" and a disease "malignant disease": 1. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Task: Identify the relationship between a variant "glutamine repeat" and a disease "malignant disease" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "malignant disease" and a gene or protein "AR". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. - Abstract of the article: BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. DNA was extracted from blood and PSA/ARE promoter region amplified by PCR. PCR products were cut with Nhe 1 restriction enzyme to distinguish G/A alleles. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Furthermore the GG distribution within cases was even greater in younger men (< 65 years; 42%; P = 0.012). Additionally, when PSA genotype was cross classified with CAG repeat, significantly more cases than both BPH and population controls were observed to have a short (< 22) CAG/GG genotype (P = 0.006). CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Tips for Analysis: Sentences mentioning a disease "malignant disease": 1. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Sentences mentioning a gene or protein "AR": 1. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. 2. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. 3. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 4. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. Sentences mentioning both entities a disease "malignant disease" and a gene or protein "AR": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "malignant disease" and a gene or protein "AR" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "prostate specific antigen" and a gene or protein "androgen receptor". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. - Abstract of the article: BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. DNA was extracted from blood and PSA/ARE promoter region amplified by PCR. PCR products were cut with Nhe 1 restriction enzyme to distinguish G/A alleles. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Furthermore the GG distribution within cases was even greater in younger men (< 65 years; 42%; P = 0.012). Additionally, when PSA genotype was cross classified with CAG repeat, significantly more cases than both BPH and population controls were observed to have a short (< 22) CAG/GG genotype (P = 0.006). CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Tips for Analysis: Sentences mentioning a gene or protein "prostate specific antigen": 1. DNA was extracted from blood and PSA/ARE promoter region amplified by PCR. 2. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. 3. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. 4. Additionally, when PSA genotype was cross classified with CAG repeat, significantly more cases than both BPH and population controls were observed to have a short (< 22) CAG/GG genotype (P = 0.006). 5. CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. 6. BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. 7. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 8. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Sentences mentioning a gene or protein "androgen receptor": 1. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. 2. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. 3. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 4. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. Sentences mentioning both entities a gene or protein "prostate specific antigen" and a gene or protein "androgen receptor": 1. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 2. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. Task: Identify the relationship between a gene or protein "prostate specific antigen" and a gene or protein "androgen receptor" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "CAG and GGC repeat" and a disease "PC". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. - Abstract of the article: BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. DNA was extracted from blood and PSA/ARE promoter region amplified by PCR. PCR products were cut with Nhe 1 restriction enzyme to distinguish G/A alleles. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Furthermore the GG distribution within cases was even greater in younger men (< 65 years; 42%; P = 0.012). Additionally, when PSA genotype was cross classified with CAG repeat, significantly more cases than both BPH and population controls were observed to have a short (< 22) CAG/GG genotype (P = 0.006). CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Tips for Analysis: Sentences mentioning a variant "CAG and GGC repeat": 1. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. Sentences mentioning a disease "PC": 1. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. 2. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. 3. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. 4. CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. 5. BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. 6. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 7. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Sentences mentioning both entities a variant "CAG and GGC repeat" and a disease "PC": There is no sentence that contains both these two entities. Task: Identify the relationship between a variant "CAG and GGC repeat" and a disease "PC" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "prostate cancer" and a gene or protein "prostate specific antigen". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. - Abstract of the article: BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. DNA was extracted from blood and PSA/ARE promoter region amplified by PCR. PCR products were cut with Nhe 1 restriction enzyme to distinguish G/A alleles. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Furthermore the GG distribution within cases was even greater in younger men (< 65 years; 42%; P = 0.012). Additionally, when PSA genotype was cross classified with CAG repeat, significantly more cases than both BPH and population controls were observed to have a short (< 22) CAG/GG genotype (P = 0.006). CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Tips for Analysis: Sentences mentioning a disease "prostate cancer": 1. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. 2. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. 3. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. 4. CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. 5. BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. 6. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 7. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Sentences mentioning a gene or protein "prostate specific antigen": 1. DNA was extracted from blood and PSA/ARE promoter region amplified by PCR. 2. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. 3. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. 4. Additionally, when PSA genotype was cross classified with CAG repeat, significantly more cases than both BPH and population controls were observed to have a short (< 22) CAG/GG genotype (P = 0.006). 5. CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. 6. BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. 7. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 8. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Sentences mentioning both entities a disease "prostate cancer" and a gene or protein "prostate specific antigen": 1. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. 2. CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. 3. BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. 4. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 5. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Task: Identify the relationship between a disease "prostate cancer" and a gene or protein "prostate specific antigen" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "androgen receptor" and a disease "prostate cancer". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. - Abstract of the article: BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. The PSA gene contains a G/A substitution in the androgen response element (ARE) 1 region. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. DNA was extracted from blood and PSA/ARE promoter region amplified by PCR. PCR products were cut with Nhe 1 restriction enzyme to distinguish G/A alleles. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Furthermore the GG distribution within cases was even greater in younger men (< 65 years; 42%; P = 0.012). Additionally, when PSA genotype was cross classified with CAG repeat, significantly more cases than both BPH and population controls were observed to have a short (< 22) CAG/GG genotype (P = 0.006). CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. Moreover, we confirm previous results that a short glutamine repeat in conjunction with GG genotype significantly increases the risk of malignant disease. Tips for Analysis: Sentences mentioning a gene or protein "androgen receptor": 1. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. 2. AR/CAG and GGC repeat length was detected by automated fluorescence from PCR products. 3. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 4. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. Sentences mentioning a disease "prostate cancer": 1. METHODS: One hundred PC patients and an age matched cohort of 79 benign prostate hyperplasia and 67 population controls were entered in this study. 2. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. 3. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. 4. CONCLUSIONS: Our results indicate that the PSA/ARE GG genotype confers an increased risk of PC especially among younger men. 5. BACKGROUND: Recent data has suggested that polymorphisms in the prostate specific antigen (PSA) may increase prostate cancer (PC) risk. 6. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 7. RESULTS: We found a significantly higher PSA/GG distribution in PC (30%) than either benign prostatic hyperplasia (BPH) (18%) or population controls (16%) (P = 0.025). Sentences mentioning both entities a gene or protein "androgen receptor" and a disease "prostate cancer": 1. The androgen receptor (AR) gene has polymorphic regions containing variable length glutamine and glycine repeats and these are believed to be associated with PC risk. 2. The effect on PC risks from PSA polymorphisms alone and synergistically with the AR gene was examined in this report. 3. Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer. Task: Identify the relationship between a gene or protein "androgen receptor" and a disease "prostate cancer" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "GPV" and a gene or protein "von Willebrand factor". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. - Abstract of the article: Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Tips for Analysis: Sentences mentioning a gene or protein "GPV": 1. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. Sentences mentioning a gene or protein "von Willebrand factor": 1. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Sentences mentioning both entities a gene or protein "GPV" and a gene or protein "von Willebrand factor": There is no sentence that contains both these two entities. Task: Identify the relationship between a gene or protein "GPV" and a gene or protein "von Willebrand factor" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Bind</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "GPV" and a disease "BSS". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. - Abstract of the article: Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Tips for Analysis: Sentences mentioning a gene or protein "GPV": 1. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. Sentences mentioning a disease "BSS": 1. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 2. We describe here the genetic basis of the disorder in a child with BSS. 3. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. 4. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. 5. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Sentences mentioning both entities a gene or protein "GPV" and a disease "BSS": 1. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. Task: Identify the relationship between a gene or protein "GPV" and a disease "BSS" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "von Willebrand factor" and a disease "BSS". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. - Abstract of the article: Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Tips for Analysis: Sentences mentioning a gene or protein "von Willebrand factor": Sentences mentioning a disease "BSS": 1. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Sentences mentioning both entities a gene or protein "von Willebrand factor" and a disease "BSS": There is no sentence that contains both these two entities. Task: Identify the relationship between a gene or protein "von Willebrand factor" and a disease "BSS" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Bind</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "glycoprotein IX" and a gene or protein "von Willebrand factor". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. - Abstract of the article: Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Tips for Analysis: Sentences mentioning a gene or protein "glycoprotein IX": Sentences mentioning a gene or protein "von Willebrand factor": 1. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 2. We describe here the genetic basis of the disorder in a child with BSS. 3. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. 4. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. 5. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Sentences mentioning both entities a gene or protein "glycoprotein IX" and a gene or protein "von Willebrand factor": There is no sentence that contains both these two entities. Task: Identify the relationship between a gene or protein "glycoprotein IX" and a gene or protein "von Willebrand factor" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "GPIX" and a disease "BSS". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. - Abstract of the article: Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Tips for Analysis: Sentences mentioning a gene or protein "GPIX": 1. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Sentences mentioning a disease "BSS": 1. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 2. We describe here the genetic basis of the disorder in a child with BSS. 3. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. 4. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. 5. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Sentences mentioning both entities a gene or protein "GPIX" and a disease "BSS": 1. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Task: Identify the relationship between a gene or protein "GPIX" and a disease "BSS" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "Asn45Ser" and a disease "BSS". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. - Abstract of the article: Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Tips for Analysis: Sentences mentioning a variant "Asn45Ser": 1. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 2. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. 3. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Sentences mentioning a disease "BSS": 1. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Sentences mentioning both entities a variant "Asn45Ser" and a disease "BSS": There is no sentence that contains both these two entities. Task: Identify the relationship between a variant "Asn45Ser" and a disease "BSS" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Bind</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline)" and a disease "BSS". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. - Abstract of the article: Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Tips for Analysis: Sentences mentioning a variant "changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline)": 1. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 2. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. 3. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Sentences mentioning a disease "BSS": 1. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 2. We describe here the genetic basis of the disorder in a child with BSS. 3. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. 4. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. 5. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Sentences mentioning both entities a variant "changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline)" and a disease "BSS": 1. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 2. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Task: Identify the relationship between a variant "changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline)" and a disease "BSS" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "nine-nucleotide deletion starting at position 1952" and a disease "BSS". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. - Abstract of the article: Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. The complex comprises four subunits, each encoded by a separate gene. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. We describe here the genetic basis of the disorder in a child with BSS. Flow-cytometric analysis of the patient's platelets showed a markedly reduced surface expression of all three glycoproteins of the GPIb/IX/V complex. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. Tips for Analysis: Sentences mentioning a variant "nine-nucleotide deletion starting at position 1952": 1. Her mother was heterozygous for the Asn45Ser mutation, and her father, for the nine-nucleotide deletion. 2. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 3. DNA sequencing analysis showed the patient to be a compound heterozygote for two mutations in the GPIX gene, a novel nine-nucleotide deletion starting at position 1952 of the gene that changes asparagine 86 for alanine and eliminates amino acids 87, 88, and 89 (arginine, threonine, and proline) and a previously reported point mutation that changes the codon asparagine (AAC) for serine (AGC) at residue 45. Sentences mentioning a disease "BSS": 1. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. 2. We describe here the genetic basis of the disorder in a child with BSS. 3. Our findings suggest that the additive effects of both mutations in the GPIX gene are responsible for the BSS phenotype of the patient. 4. Several mutations have been described for each of the subunits, except for GPV, as a cause of BSS. 5. Bernard-Soulier syndrome (BSS) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprotein (GP) Ib/IX/V complex, the major von Willebrand factor receptor. Sentences mentioning both entities a variant "nine-nucleotide deletion starting at position 1952" and a disease "BSS": 1. Compound heterozygosity for a novel nine-nucleotide deletion and the Asn45Ser missense mutation in the glycoprotein IX gene in a patient with Bernard-Soulier syndrome. Task: Identify the relationship between a variant "nine-nucleotide deletion starting at position 1952" and a disease "BSS" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "DCT" and a disease "pigmentation". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a gene or protein "DCT": 1. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. 2. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Sentences mentioning a disease "pigmentation": 1. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Sentences mentioning both entities a gene or protein "DCT" and a disease "pigmentation": 1. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Task: Identify the relationship between a gene or protein "DCT" and a disease "pigmentation" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "Q48H" and a disease "glaucoma". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a variant "Q48H": 1. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 2. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 3. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Sentences mentioning a disease "glaucoma": 1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 2. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 3. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 4. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. 5. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Sentences mentioning both entities a variant "Q48H" and a disease "glaucoma": 1. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 2. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 3. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Task: Identify the relationship between a variant "Q48H" and a disease "glaucoma" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "CYP1B1" and a disease "glaucoma". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a gene or protein "CYP1B1": 1. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Sentences mentioning a disease "glaucoma": 1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 2. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 3. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 4. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. 5. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Sentences mentioning both entities a gene or protein "CYP1B1" and a disease "glaucoma": 1. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Task: Identify the relationship between a gene or protein "CYP1B1" and a disease "glaucoma" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "optineurin" and a disease "glaucoma". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a gene or protein "optineurin": 1. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Sentences mentioning a disease "glaucoma": 1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 2. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 3. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 4. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. 5. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Sentences mentioning both entities a gene or protein "optineurin" and a disease "glaucoma": 1. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Task: Identify the relationship between a gene or protein "optineurin" and a disease "glaucoma" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "congenital microcoria" and a gene or protein "MCOR". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a disease "congenital microcoria": 1. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 2. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. 3. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. 4. Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. 5. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 6. PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. 7. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. 8. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 9. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. Sentences mentioning a gene or protein "MCOR": 1. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 2. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. 3. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. Sentences mentioning both entities a disease "congenital microcoria" and a gene or protein "MCOR": 1. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 2. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. Task: Identify the relationship between a disease "congenital microcoria" and a gene or protein "MCOR" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "congenital microcoria" and a variant "Q48H". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a disease "congenital microcoria": 1. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 2. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. 3. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. 4. Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. 5. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 6. PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. 7. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. 8. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 9. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. Sentences mentioning a variant "Q48H": 1. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 2. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 3. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Sentences mentioning both entities a disease "congenital microcoria" and a variant "Q48H": 1. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 2. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Task: Identify the relationship between a disease "congenital microcoria" and a variant "Q48H" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "congenital microcoria" and a gene or protein "CYP1B1". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a disease "congenital microcoria": 1. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 2. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. 3. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. 4. Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. 5. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 6. PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. 7. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. 8. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 9. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. Sentences mentioning a gene or protein "CYP1B1": 1. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Sentences mentioning both entities a disease "congenital microcoria" and a gene or protein "CYP1B1": 1. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Task: Identify the relationship between a disease "congenital microcoria" and a gene or protein "CYP1B1" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "microcoria" and a gene or protein "optineurin". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a disease "microcoria": 1. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 2. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. 3. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. 4. Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. 5. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 6. PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. 7. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. 8. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 9. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. Sentences mentioning a gene or protein "optineurin": 1. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Sentences mentioning both entities a disease "microcoria" and a gene or protein "optineurin": 1. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Task: Identify the relationship between a disease "microcoria" and a gene or protein "optineurin" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "congenital microcoria" and a gene or protein "MYOC". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a disease "congenital microcoria": 1. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 2. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. 3. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. 4. Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. 5. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 6. PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. 7. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. 8. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 9. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. Sentences mentioning a gene or protein "MYOC": 1. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 2. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 3. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 4. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Sentences mentioning both entities a disease "congenital microcoria" and a gene or protein "MYOC": 1. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 2. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 3. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Task: Identify the relationship between a disease "congenital microcoria" and a gene or protein "MYOC" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "myocilin" and a disease "glaucoma". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree. - Abstract of the article: PURPOSE: Congenital microcoria is a rare autosomal dominant developmental disorder of the iris associated with myopia and juvenile open angle glaucoma. Linkage to the chromosomal locus 13q31-q32 has previously been reported in a large French family. In the current study, a three generation Asian Indian family with 15 congenital microcoria (pupils with a diameter <2 mm) affected members was studied for linkage to candidate microsatellite markers at the 13q31-q32 locus. METHODS: Twenty-four members of the family were clinically examined and genomic DNA was extracted. Microsatellite markers at 13q31-q32 were PCR amplified and run on an ABI Prism 310 genetic analyzer and genotyped with the GeneScan analysis. Two point and multipoint linkage analyses were performed using the MLINK and SUPERLINK programs. RESULTS: Peak two point LOD scores of 3.5, 4.7, and 5.3 were found co-incident with consecutive markers D13S154, DCT, and D13S1280. Multipoint analysis revealed a 4 cM region encompassing D13S1300 to D13S1280 where the LOD remains just over 6.0 Thus we confirm localization of the congenital microcoria locus to chromosomal locus 13q31-q32. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. CONCLUSIONS: We have confirmed the localization of the congenital microcoria locus (MCOR) to 13q31-q32 in a large Asian Indian family and conclude that current information suggests this is a single locus disorder and genetically homogeneous. When combined with the initial linkage paper our haplotype and linkage data map the MCOR locus to a 6-7 cM region between D13S265 and D13S1280. The DCT locus, a member of the tyrosinase family involved in pigmentation, maps within this region. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Tips for Analysis: Sentences mentioning a gene or protein "myocilin": 1. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 2. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 3. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 4. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Sentences mentioning a disease "glaucoma": 1. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 2. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 3. Fine mapping and candidate gene analysis continues with the hope that characterizing the micocoria gene will lead to a better understanding of microcoria and glaucoma causation. 4. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. 5. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. Sentences mentioning both entities a gene or protein "myocilin" and a disease "glaucoma": 1. The relationship between microcoria, glaucoma, and the MYOC Q48H mutation in this family is discussed. 2. Using direct sequencing a point mutation (144 G>A) resulting in a Q48H substitution in exon 1 of the MYOC gene was observed in five of the eight glaucoma patients, but not in unaffected family members and 100 unrelated controls. 3. Data presented here supports the hypothesis that congenital microcoria is a potential risk factor for glaucoma, although this observation is complicated by the partial segregation of MYOC Q48H (1q24.3-q25.2), a mutation known to be associated with glaucoma in India. 4. In addition, eight individuals who had both microcoria and glaucoma were screened for glaucoma genes: myocilin (MYOC), optineurin (OPTN) and CYP1B1. Task: Identify the relationship between a gene or protein "myocilin" and a disease "glaucoma" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "1284A>C" and a disease "RTH". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a variant "1284A>C": 1. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Sentences mentioning a disease "RTH": 1. Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 3. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning both entities a variant "1284A>C" and a disease "RTH": There is no sentence that contains both these two entities. Task: Identify the relationship between a variant "1284A>C" and a disease "RTH" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "TSHalpha" and a gene or protein "TRbeta". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a gene or protein "TSHalpha": 1. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. 2. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). 3. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. 4. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Sentences mentioning a gene or protein "TRbeta": 1. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. 2. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). 3. Further functional analyses of the novel TRbeta mutant were conducted. 4. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. 5. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 6. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 7. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). 8. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning both entities a gene or protein "TSHalpha" and a gene or protein "TRbeta": 1. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. 2. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Task: Identify the relationship between a gene or protein "TSHalpha" and a gene or protein "TRbeta" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "thyroxine" and a gene or protein "TRbeta". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a chemical "thyroxine": 1. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Sentences mentioning a gene or protein "TRbeta": 1. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. 2. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). 3. Further functional analyses of the novel TRbeta mutant were conducted. 4. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. 5. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 6. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 7. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). 8. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning both entities a chemical "thyroxine" and a gene or protein "TRbeta": There is no sentence that contains both these two entities. Task: Identify the relationship between a chemical "thyroxine" and a gene or protein "TRbeta" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "thyroxine" and a variant "E333D". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a chemical "thyroxine": 1. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Sentences mentioning a variant "E333D": 1. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. 2. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. 3. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). 6. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning both entities a chemical "thyroxine" and a variant "E333D": There is no sentence that contains both these two entities. Task: Identify the relationship between a chemical "thyroxine" and a variant "E333D" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "T3" and a gene or protein "TRbeta". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a chemical "T3": 1. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). 2. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. Sentences mentioning a gene or protein "TRbeta": 1. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. 2. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). 3. Further functional analyses of the novel TRbeta mutant were conducted. 4. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. 5. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 6. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 7. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). 8. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning both entities a chemical "T3" and a gene or protein "TRbeta": There is no sentence that contains both these two entities. Task: Identify the relationship between a chemical "T3" and a gene or protein "TRbeta" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "T3" and a variant "E333D". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a chemical "T3": 1. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). 2. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. Sentences mentioning a variant "E333D": 1. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. 2. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. 3. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). 6. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning both entities a chemical "T3" and a variant "E333D": 1. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. Task: Identify the relationship between a chemical "T3" and a variant "E333D" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "thyroid hormone beta receptor" and a disease "resistance to thyroid hormone syndrome". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a gene or protein "thyroid hormone beta receptor": 1. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. 2. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). 3. Further functional analyses of the novel TRbeta mutant were conducted. 4. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. 5. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 6. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 7. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). 8. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning a disease "resistance to thyroid hormone syndrome": 1. Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 3. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning both entities a gene or protein "thyroid hormone beta receptor" and a disease "resistance to thyroid hormone syndrome": 1. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 3. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Task: Identify the relationship between a gene or protein "thyroid hormone beta receptor" and a disease "resistance to thyroid hormone syndrome" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "RTH" and a chemical "thyroid hormones". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a disease "RTH": 1. Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 3. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning a chemical "thyroid hormones": 1. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. Sentences mentioning both entities a disease "RTH" and a chemical "thyroid hormones": 1. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. Task: Identify the relationship between a disease "RTH" and a chemical "thyroid hormones" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "RTH" and a gene or protein "TSH". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a disease "RTH": 1. Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 3. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning a gene or protein "TSH": 1. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. 2. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). 3. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. 4. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Sentences mentioning both entities a disease "RTH" and a gene or protein "TSH": 1. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. Task: Identify the relationship between a disease "RTH" and a gene or protein "TSH" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "RTH" and a chemical "T4". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a disease "RTH": 1. Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 3. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning a chemical "T4": 1. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Sentences mentioning both entities a disease "RTH" and a chemical "T4": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "RTH" and a chemical "T4" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "RTH" and a chemical "T3". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a disease "RTH": 1. Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 3. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning a chemical "T3": 1. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). 2. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. Sentences mentioning both entities a disease "RTH" and a chemical "T3": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "RTH" and a chemical "T3" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "E333D" and a disease "RTH". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. - Abstract of the article: Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. The disorder is associated with diverse mutations in the thyroid hormone beta receptor (TRbeta). Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. The mutation was identified in a 22-year-old French woman coming to medical attention because of an increasing overweight. Biochemical tests showed elevated free thyroxine (T4: 20.8 pg/ml (normal, 8.5-18)) and triiodothyronine (T3: 5.7 pg/ml (normal, 1.4-4)) in the serum, together with an inappropriately nonsuppressed TSH level of 4.7 mU/ml (normal, 0.4-4). Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). Further functional analyses of the novel TRbeta mutant were conducted. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. Moreover, a dominant inhibition of the wild-type TRbeta counterpart transactivation function was observed on both a positive (F2-TRE) and a negative (TSHalpha) promoter. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Tips for Analysis: Sentences mentioning a variant "E333D": 1. However, in transient transfection assays, the E333D TRbeta mutant exhibited impaired transcriptional regulation on two distinct positively regulated thyroid response elements (F2- and DR4-TREs) as well as on the negatively regulated human TSHalpha promoter. 2. We found that the E333D mutation neither significantly affected the affinity of the receptor for T3 nor modified heterodimer formation with retinoid X receptor (RXR) when bound to DNA. 3. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. Direct sequencing of the TRbeta gene revealed a heterozygous transition 1284A>C in exon 9 resulting in substitution of glutamic acid 333 by aspartic acid residue (E333D). 6. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning a disease "RTH": 1. Her father and her brother's serum tests also showed biochemical abnormalities consistent with RTH. 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 3. Resistance to thyroid hormone (RTH) is an inherited syndrome characterized by elevated serum thyroid hormones (TH), failure to suppress pituitary thyroid stimulating hormone (TSH) secretion, and variable peripheral tissue responsiveness to TH. 4. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 5. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Sentences mentioning both entities a variant "E333D" and a disease "RTH": 1. Here, we report a novel natural RTH mutation (E333D) located in the large carboxy-terminal ligand binding domain of TRbeta. 2. A novel mutation (E333D) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome. 3. These results strongly suggest that the E333D TRbeta mutation is responsible for the RTH phenotype in the proposita's family. Task: Identify the relationship between a variant "E333D" and a disease "RTH" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "ROS" and a disease "cancer". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. - Abstract of the article: PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of cancer. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). These SNPs are correlated with each other (r2 = 0.61). GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). This effect was not attenuated after adjusting for tumor stage, grade, or estrogen receptor status. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. Tips for Analysis: Sentences mentioning a chemical "ROS": 1. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of cancer. Sentences mentioning a disease "cancer": 1. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of cancer. 2. This effect was not attenuated after adjusting for tumor stage, grade, or estrogen receptor status. Sentences mentioning both entities a chemical "ROS" and a disease "cancer": 1. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of cancer. Task: Identify the relationship between a chemical "ROS" and a disease "cancer" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "GPX4" and a disease "death". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. - Abstract of the article: PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of cancer. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). These SNPs are correlated with each other (r2 = 0.61). GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). This effect was not attenuated after adjusting for tumor stage, grade, or estrogen receptor status. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. Tips for Analysis: Sentences mentioning a gene or protein "GPX4": 1. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). 2. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. 3. GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). 4. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. 5. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. Sentences mentioning a disease "death": 1. GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). Sentences mentioning both entities a gene or protein "GPX4" and a disease "death": 1. GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). Task: Identify the relationship between a gene or protein "GPX4" and a disease "death" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a gene or protein "GPX4" and a disease "breast cancer". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. - Abstract of the article: PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of cancer. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). These SNPs are correlated with each other (r2 = 0.61). GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). This effect was not attenuated after adjusting for tumor stage, grade, or estrogen receptor status. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. Tips for Analysis: Sentences mentioning a gene or protein "GPX4": 1. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). 2. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. 3. GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). 4. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. 5. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. Sentences mentioning a disease "breast cancer": 1. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. 2. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. 3. PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. 4. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. 5. Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. Sentences mentioning both entities a gene or protein "GPX4" and a disease "breast cancer": 1. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. 2. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. 3. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. Task: Identify the relationship between a gene or protein "GPX4" and a disease "breast cancer" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "rs713041" and a disease "death". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. - Abstract of the article: PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of cancer. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). These SNPs are correlated with each other (r2 = 0.61). GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). This effect was not attenuated after adjusting for tumor stage, grade, or estrogen receptor status. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. Tips for Analysis: Sentences mentioning a variant "rs713041": 1. GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). 2. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). Sentences mentioning a disease "death": 1. GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). Sentences mentioning both entities a variant "rs713041" and a disease "death": 1. GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). Task: Identify the relationship between a variant "rs713041" and a disease "death" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "breast cancer" and a variant "rs757229". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. - Abstract of the article: PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of cancer. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). These SNPs are correlated with each other (r2 = 0.61). GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). This effect was not attenuated after adjusting for tumor stage, grade, or estrogen receptor status. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. Tips for Analysis: Sentences mentioning a disease "breast cancer": 1. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. 2. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. 3. PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. 4. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. 5. Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. Sentences mentioning a variant "rs757229": 1. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). Sentences mentioning both entities a disease "breast cancer" and a variant "rs757229": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "breast cancer" and a variant "rs757229" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "breast cancer" and a variant "rs713041". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. - Abstract of the article: PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. Of particular interest are genes involved in defense against reactive oxygen species (ROS) because ROS are thought to cause DNA damage and contribute to the pathogenesis of cancer. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). These SNPs are correlated with each other (r2 = 0.61). GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). This effect was not attenuated after adjusting for tumor stage, grade, or estrogen receptor status. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. Tips for Analysis: Sentences mentioning a disease "breast cancer": 1. PATIENTS AND METHODS: We examined associations between 54 polymorphisms that tag the known common variants (minor allele frequency > 0.05) in 10 genes involved in oxidative damage repair (CAT, SOD1, SOD2, GPX1, GPX4, GSR, TXN, TXN2, TXNRD1, and TXNRD2) and survival in 4,470 women with breast cancer. 2. CONCLUSION: These data provide strong support for the hypothesis that common variation in GPX4 is associated with prognosis after a diagnosis of breast cancer. 3. PURPOSE: The prognosis of breast cancer varies considerably among individuals, and inherited genetic factors may help explain this variability. 4. We found that the common allele is preferentially expressed in normal lymphocytes, normal breast, and breast tumors compared with the rare allele, but there were no differences in total levels of GPX4 mRNA across genotypes. 5. Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer. Sentences mentioning a variant "rs713041": 1. GPX4 rs713041 is located near the selenocysteine insertion sequence element in the GPX4 3' untranslated region, and the rare allele of this SNP is associated with an increased risk of death, with a hazard ratio of 1.27 per rare allele carried (95% CI, 1.13 to 11.43). 2. RESULTS: Two single nucleotide polymorphisms (SNPs) in GPX4 (rs713041 and rs757229) were associated with all-cause mortality even after adjusting for multiple hypothesis testing (adjusted P = .0041 and P = .0035). Sentences mentioning both entities a disease "breast cancer" and a variant "rs713041": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "breast cancer" and a variant "rs713041" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "MCL tumour" and a gene or protein "ERCC5". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. - Abstract of the article: Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. The common intervals of chromosomal imbalance have been narrowed down using array-comparative genomic hybridization (CGH). However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. Only subsets of genes located within given cytogenetic anomaly-intervals showed a concomitant change in mRNA expression level. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. Tips for Analysis: Sentences mentioning a disease "MCL tumour": 1. Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. 2. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. 3. However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. 4. Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. 5. Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. 6. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Sentences mentioning a gene or protein "ERCC5": 1. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Sentences mentioning both entities a disease "MCL tumour" and a gene or protein "ERCC5": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "MCL tumour" and a gene or protein "ERCC5" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "MCL" and a gene or protein "ATM". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. - Abstract of the article: Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. The common intervals of chromosomal imbalance have been narrowed down using array-comparative genomic hybridization (CGH). However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. Only subsets of genes located within given cytogenetic anomaly-intervals showed a concomitant change in mRNA expression level. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. Tips for Analysis: Sentences mentioning a disease "MCL": 1. Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. 2. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. 3. However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. 4. Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. 5. Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. 6. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Sentences mentioning a gene or protein "ATM": 1. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Sentences mentioning both entities a disease "MCL" and a gene or protein "ATM": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "MCL" and a gene or protein "ATM" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "MCL" and a gene or protein "PRKACB". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. - Abstract of the article: Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. The common intervals of chromosomal imbalance have been narrowed down using array-comparative genomic hybridization (CGH). However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. Only subsets of genes located within given cytogenetic anomaly-intervals showed a concomitant change in mRNA expression level. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. Tips for Analysis: Sentences mentioning a disease "MCL": 1. Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. 2. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. 3. However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. 4. Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. 5. Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. 6. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Sentences mentioning a gene or protein "PRKACB": 1. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Sentences mentioning both entities a disease "MCL" and a gene or protein "PRKACB": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "MCL" and a gene or protein "PRKACB" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "MCL tumour" and a gene or protein "ARHGAP29". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. - Abstract of the article: Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. The common intervals of chromosomal imbalance have been narrowed down using array-comparative genomic hybridization (CGH). However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. Only subsets of genes located within given cytogenetic anomaly-intervals showed a concomitant change in mRNA expression level. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. Tips for Analysis: Sentences mentioning a disease "MCL tumour": 1. Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. 2. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. 3. However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. 4. Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. 5. Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. 6. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Sentences mentioning a gene or protein "ARHGAP29": 1. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Sentences mentioning both entities a disease "MCL tumour" and a gene or protein "ARHGAP29": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "MCL tumour" and a gene or protein "ARHGAP29" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "MCL tumour" and a gene or protein "FBXO5". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. - Abstract of the article: Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. The common intervals of chromosomal imbalance have been narrowed down using array-comparative genomic hybridization (CGH). However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. Only subsets of genes located within given cytogenetic anomaly-intervals showed a concomitant change in mRNA expression level. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. Tips for Analysis: Sentences mentioning a disease "MCL tumour": 1. Mantle cell lymphoma (MCL) is characterized by the t(11;14)(q13;q32) translocation and several other cytogenetic aberrations, including heterozygous loss of chromosomal arms 1p, 6q, 11q and 13q and/or gains of 3q and 8q. 2. Combined analysis of tiling-resolution array-CGH with gene expression profiling on 11 MCL tumours enabled the identification of genomic alterations and their corresponding gene expression profiles. 3. However, the chromosomal intervals still contain many genes potentially involved in MCL pathogeny. 4. Deregulation of these gene products may interfere with the signalling pathways that are involved in MCL tumour development and maintenance. 5. Integrated genomic and expression profiling in mantle cell lymphoma: identification of gene-dosage regulated candidate genes. 6. The genes that showed consistent correlation between DNA copy number and RNA expression levels are likely to be important in MCL pathology. Sentences mentioning a gene or protein "FBXO5": 1. Besides several 'anonymous genes', we also identified various fully annotated genes, whose gene products are involved in cyclic adenosine monophosphate-regulated pathways (PRKACB), DNA damage repair, maintenance of chromosome stability and prevention of rereplication (ATM, ERCC5, FBXO5), energy metabolism (such as genes that are involved in the synthesis of proteins encoded by the mitochondrial genome) and signal transduction (ARHGAP29). Sentences mentioning both entities a disease "MCL tumour" and a gene or protein "FBXO5": There is no sentence that contains both these two entities. Task: Identify the relationship between a disease "MCL tumour" and a gene or protein "FBXO5" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "cancer" and a variant "D302H". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck. - Abstract of the article: Caspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Further validation by population-based case-control studies and rigorous mechanistic studies is warranted. Tips for Analysis: Sentences mentioning a disease "cancer": 1. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. Sentences mentioning a variant "D302H": 1. Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. 2. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. 3. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Sentences mentioning both entities a disease "cancer" and a variant "D302H": 1. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. Task: Identify the relationship between a disease "cancer" and a variant "D302H" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a disease "cancer" and a variant "-652 6N ins/del". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck. - Abstract of the article: Caspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Further validation by population-based case-control studies and rigorous mechanistic studies is warranted. Tips for Analysis: Sentences mentioning a disease "cancer": 1. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. Sentences mentioning a variant "-652 6N ins/del": 1. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. Sentences mentioning both entities a disease "cancer" and a variant "-652 6N ins/del": 1. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. Task: Identify the relationship between a disease "cancer" and a variant "-652 6N ins/del" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a chemical "camptothecin" and a gene or protein "p53". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck. - Abstract of the article: Caspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Further validation by population-based case-control studies and rigorous mechanistic studies is warranted. Tips for Analysis: Sentences mentioning a chemical "camptothecin": 1. Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. Sentences mentioning a gene or protein "p53": 1. Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. Sentences mentioning both entities a chemical "camptothecin" and a gene or protein "p53": 1. Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. Task: Identify the relationship between a chemical "camptothecin" and a gene or protein "p53" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Bind', 'Association']. Your choice should be based on the context and tips provided. [/INST] Association</s>
<s>[INST] <<SYS>> Your task involves analyzing the title and abstract of a medical article to determine the relationship between two specified entities: a variant "-652 6N del" and a chemical "camptothecin". Follow the context and analysis tips provided to assist in your response. <</SYS>> Context: - Title of the article: The six-nucleotide deletion/insertion variant in the CASP8 promoter region is inversely associated with risk of squamous cell carcinoma of the head and neck. - Abstract of the article: Caspase 8 (CASP8) is an apoptosis-related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway. A CASP8 promoter region six-nucleotide deletion/insertion (-652 6N ins/del) variant and a coding region D302H polymorphism are reportedly important in cancer development, but no reported study has assessed the associations of these genetic variations with risk of head and neck cancer. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. Crude and adjusted odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression models. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Further validation by population-based case-control studies and rigorous mechanistic studies is warranted. Tips for Analysis: Sentences mentioning a variant "-652 6N del": 1. Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. 2. The CASP8 -652 6N del variant genotypes or haplotypes were inversely associated with SCCHN risk (adjusted OR, 0.70; 95% CI, 0.57-0.85 for the ins/del + del/del genotypes compared with the ins/ins genotype; adjusted OR, 0.73; 95% CI, 0.55-0.97 for the del-D haplotype compared with the ins-D haplotype). 3. In a hospital-based study of non-Hispanic whites, we genotyped CASP8 -652 6N del and 302H variants in 1,023 patients with squamous cell carcinoma of the head and neck (SCCHN) and 1,052 cancer-free controls. 4. We concluded that the CASP8 -652 6N del variant allele may contribute to the risk of developing SCCHN in non-Hispanic white populations. Sentences mentioning a chemical "camptothecin": 1. Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. Sentences mentioning both entities a variant "-652 6N del" and a chemical "camptothecin": 1. Furthermore, the number of the CASP8 -652 6N del (but not 302H) variant allele tended to correlate with increased levels of camptothecin-induced p53-mediated apoptosis in T lymphocytes from 170 cancer-free controls. Task: Identify the relationship between a variant "-652 6N del" and a chemical "camptothecin" using the analysis tips. Select from the options: ['Positive_Correlation', 'Negative_Correlation', 'Association']. Your choice should be based on the context and tips provided. [/INST] Positive_Correlation</s>

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