pmid stringlengths 5 8 | title stringlengths 17 342 | abstract stringlengths 1 4.53k | revised_title stringlengths 17 354 | revised_abstract stringlengths 1 4.63k | all_entity_list listlengths 2 73 | head_gene_entity dict | tail_diease_entity dict | label stringclasses 2
values |
|---|---|---|---|---|---|---|---|---|
9758617 | Mutation in the human acetylcholinesterase-associated collagen gene, COLQ, is responsible for congenital myasthenic syndrome with end-plate acetylcholinesterase deficiency (Type Ic). | Congenital myasthenic syndrome (CMS) with end-plate acetylcholinesterase (AChE) deficiency is a rare autosomal recessive disease, recently classified as CMS type Ic (CMS-Ic). It is characterized by onset in childhood, generalized weakness increased by exertion, refractoriness to anticholinesterase drugs, and morpholog... | Mutation in the human /"acetylcholinesterase-associated collagen"/ gene, /"COLQ"/, is responsible for /"congenital myasthenic syndrome"/ with end-plate acetylcholinesterase deficiency (Type Ic). | /"Congenital myasthenic syndrome"/ (/"CMS"/) with end-plate acetylcholinesterase (AChE) deficiency is a rare autosomal recessive disease, recently classified as CMS type Ic (CMS-Ic). It is characterized by onset in childhood, generalized weakness increased by exertion, refractoriness to anticholinesterase drugs, and m... | [
{
"begin_idx": "336",
"end_idx": "347",
"entity_id": "C566415",
"entity_type": "Disease",
"text_name": "CMS type Ic"
},
{
"begin_idx": "349",
"end_idx": "355",
"entity_id": "C566415",
"entity_type": "Disease",
"text_name": "CMS-Ic"
},
{
"begin_idx": "715",
"en... | {
"begin_idx": "1244",
"end_idx": "1248",
"entity_id": "8292",
"entity_type": "Gene",
"text_name": "COLQ"
} | {
"begin_idx": "183",
"end_idx": "213",
"entity_id": "D020294",
"entity_type": "Disease",
"text_name": "Congenital myasthenic syndrome"
} | No |
9762601 | Hunter disease in the Spanish population: molecular analysis in 31 families. | Mucopolysaccharidosis type II (Hunter disease) is an X-linked disorder due to deficiency of the lysosomal enzyme iduronate 2-sulphatase. Here we report an update of molecular studies in 31 Spanish families with Hunter disease. We found a total of 22 novel small mutations (7 reported previously by our group), and 4 lar... | Hunter disease in the Spanish population: molecular analysis in 31 families. | /"Mucopolysaccharidosis type II"/ (Hunter disease) is an X-linked disorder due to deficiency of the lysosomal enzyme iduronate 2-sulphatase. Here we report an update of molecular studies in 31 Spanish families with Hunter disease. We found a total of 22 novel small mutations (7 reported previously by our group), and 4... | [
{
"begin_idx": "0",
"end_idx": "14",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "Hunter disease"
},
{
"begin_idx": "108",
"end_idx": "122",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "Hunter disease"
},
{
"begin_idx": "288",... | {
"begin_idx": "669",
"end_idx": "672",
"entity_id": "3423",
"entity_type": "Gene",
"text_name": "IDS"
} | {
"begin_idx": "77",
"end_idx": "106",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "Mucopolysaccharidosis type II"
} | Yes |
9762601 | Hunter disease in the Spanish population: molecular analysis in 31 families. | Mucopolysaccharidosis type II (Hunter disease) is an X-linked disorder due to deficiency of the lysosomal enzyme iduronate 2-sulphatase. Here we report an update of molecular studies in 31 Spanish families with Hunter disease. We found a total of 22 novel small mutations (7 reported previously by our group), and 4 lar... | /"Hunter disease"/ in the Spanish population: molecular analysis in 31 families. | Mucopolysaccharidosis type II (/"Hunter disease"/) is an X-linked disorder due to deficiency of the lysosomal enzyme iduronate 2-sulphatase. Here we report an update of molecular studies in 31 Spanish families with /"Hunter disease"/. We found a total of 22 novel small mutations (7 reported previously by our group), a... | [
{
"begin_idx": "0",
"end_idx": "14",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "Hunter disease"
},
{
"begin_idx": "108",
"end_idx": "122",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "Hunter disease"
},
{
"begin_idx": "288",... | {
"begin_idx": "669",
"end_idx": "672",
"entity_id": "3423",
"entity_type": "Gene",
"text_name": "IDS"
} | {
"begin_idx": "288",
"end_idx": "302",
"entity_id": "D004194",
"entity_type": "Disease",
"text_name": "Hunter disease"
} | No |
9769329 | The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. | During active disease, patients with systemic-onset juvenile chronic arthritis (S-JCA) demonstrate a rise and fall in serum interleukin-6 (IL-6) that parallels the classic quotidian fever. To investigate the possibility that this cytokine profile results from a difference in the control of IL-6 expression, we examined... | The effect of novel polymorphisms in the /"interleukin-6"/ (/"IL-6"/) gene on /"IL-6"/ transcription and plasma /"IL-6"/ levels, and an association with systemic-onset /"juvenile chronic arthritis"/. | During active disease, patients with systemic-onset /"juvenile chronic arthritis"/ (S-JCA) demonstrate a rise and fall in serum /"interleukin-6"/ (/"IL-6"/) that parallels the classic quotidian fever. To investigate the possibility that this cytokine profile results from a difference in the control of /"IL-6"/ express... | [
{
"begin_idx": "1262",
"end_idx": "1265",
"entity_id": "C536528",
"entity_type": "Disease",
"text_name": "LPS"
},
{
"begin_idx": "152",
"end_idx": "178",
"entity_id": "D001171",
"entity_type": "Disease",
"text_name": "juvenile chronic arthritis"
},
{
"begin_idx": ... | {
"begin_idx": "41",
"end_idx": "54",
"entity_id": "3569",
"entity_type": "Gene",
"text_name": "interleukin-6"
} | {
"begin_idx": "152",
"end_idx": "178",
"entity_id": "D001171",
"entity_type": "Disease",
"text_name": "juvenile chronic arthritis"
} | Yes |
9769329 | The effect of novel polymorphisms in the interleukin-6 (IL-6) gene on IL-6 transcription and plasma IL-6 levels, and an association with systemic-onset juvenile chronic arthritis. | During active disease, patients with systemic-onset juvenile chronic arthritis (S-JCA) demonstrate a rise and fall in serum interleukin-6 (IL-6) that parallels the classic quotidian fever. To investigate the possibility that this cytokine profile results from a difference in the control of IL-6 expression, we examined... | The effect of novel polymorphisms in the /"interleukin-6"/ (/"IL-6"/) gene on /"IL-6"/ transcription and plasma /"IL-6"/ levels, and an association with systemic-onset juvenile chronic arthritis. | During active disease, patients with systemic-onset juvenile chronic arthritis (S-JCA) demonstrate a rise and fall in serum /"interleukin-6"/ (/"IL-6"/) that parallels the classic quotidian fever. To investigate the possibility that this cytokine profile results from a difference in the control of /"IL-6"/ expression,... | [
{
"begin_idx": "1262",
"end_idx": "1265",
"entity_id": "C536528",
"entity_type": "Disease",
"text_name": "LPS"
},
{
"begin_idx": "152",
"end_idx": "178",
"entity_id": "D001171",
"entity_type": "Disease",
"text_name": "juvenile chronic arthritis"
},
{
"begin_idx": ... | {
"begin_idx": "41",
"end_idx": "54",
"entity_id": "3569",
"entity_type": "Gene",
"text_name": "interleukin-6"
} | {
"begin_idx": "1262",
"end_idx": "1265",
"entity_id": "C536528",
"entity_type": "Disease",
"text_name": "LPS"
} | No |
9771706 | A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). | Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers on chromosome 4p was confirmed in five families. On the basis of meiotic recombinants and disease-associated h... | A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (/"Wolfram syndrome"/). | /"Wolfram syndrome"/ (/"WFS"/; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers on chromosome 4p was confirmed in five families. On the basis of meiotic recombinants and disease-asso... | [
{
"begin_idx": "68",
"end_idx": "85",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes mellitus"
},
{
"begin_idx": "247",
"end_idx": "282",
"entity_id": "D003922",
"entity_type": "Disease",
"text_name": "insulin-dependent diabetes mellitus"
},
... | {
"begin_idx": "548",
"end_idx": "552",
"entity_id": "7466",
"entity_type": "Gene",
"text_name": "WFS1"
} | {
"begin_idx": "105",
"end_idx": "121",
"entity_id": "D014929",
"entity_type": "Disease",
"text_name": "Wolfram syndrome"
} | Yes |
9771706 | A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and optic atrophy (Wolfram syndrome). | Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive optic atrophy. Linkage to markers on chromosome 4p was confirmed in five families. On the basis of meiotic recombinants and disease-associated h... | A gene encoding a transmembrane protein is mutated in patients with diabetes mellitus and /"optic atrophy"/ (Wolfram syndrome). | Wolfram syndrome (WFS; OMIM 222300) is an autosomal recessive neurodegenerative disorder defined by young-onset non-immune insulin-dependent diabetes mellitus and progressive /"optic atrophy"/. Linkage to markers on chromosome 4p was confirmed in five families. On the basis of meiotic recombinants and disease-associat... | [
{
"begin_idx": "68",
"end_idx": "85",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes mellitus"
},
{
"begin_idx": "247",
"end_idx": "282",
"entity_id": "D003922",
"entity_type": "Disease",
"text_name": "insulin-dependent diabetes mellitus"
},
... | {
"begin_idx": "720",
"end_idx": "724",
"entity_id": "7466",
"entity_type": "Gene",
"text_name": "WFS1"
} | {
"begin_idx": "90",
"end_idx": "103",
"entity_id": "D009896",
"entity_type": "Disease",
"text_name": "optic atrophy"
} | No |
9787075 | Murine CASK is disrupted in a sex-linked cleft palate mouse mutant. | A transgenic mouse insertional mutant displayed the phenotype of altered cranial morphology with sex-linked cleft palate. We have cloned the disrupted genomic X-linked locus and report the identification of the mCASK gene. The gene is transcribed to produce two messages of 4.5 and 9.5 kb expressed during development a... | Murine /"CASK"/ is disrupted in a /"sex-linked cleft palate"/ mouse mutant. | A transgenic mouse insertional mutant displayed the phenotype of altered cranial morphology with /"sex-linked cleft palate"/. We have cloned the disrupted genomic X-linked locus and report the identification of the /"mCASK"/ gene. The gene is transcribed to produce two messages of 4.5 and 9.5 kb expressed during devel... | [
{
"begin_idx": "30",
"end_idx": "53",
"entity_id": "D002972",
"entity_type": "Disease",
"text_name": "sex-linked cleft palate"
},
{
"begin_idx": "165",
"end_idx": "188",
"entity_id": "D002972",
"entity_type": "Disease",
"text_name": "sex-linked cleft palate"
},
{
... | {
"begin_idx": "279",
"end_idx": "284",
"entity_id": "8573",
"entity_type": "Gene",
"text_name": "mCASK"
} | {
"begin_idx": "30",
"end_idx": "53",
"entity_id": "D002972",
"entity_type": "Disease",
"text_name": "sex-linked cleft palate"
} | Yes |
9788719 | Analysis of the transactivation domain of the androgen receptor in patients with male infertility. | Genetic defects of the human androgen receptor (AR) can cause a wide spectrum of androgen insensitivity syndromes (AIS) in XY individuals ranging from phenotypic females, to defective spermatogenesis in otherwise normal males. We screened the non-polymorphic regions of exon 1, transactivation domain (TAD), of the AR g... | Analysis of the transactivation domain of the /"androgen receptor"/ in patients with male infertility. | Genetic defects of the human /"androgen receptor"/ (/"AR"/) can cause a wide spectrum of /"androgen insensitivity syndromes"/ (/"AIS"/) in XY individuals ranging from phenotypic females, to defective spermatogenesis in otherwise normal males. We screened the non-polymorphic regions of exon 1, transactivation domain (T... | [
{
"begin_idx": "81",
"end_idx": "97",
"entity_id": "D007248",
"entity_type": "Disease",
"text_name": "male infertility"
},
{
"begin_idx": "1521",
"end_idx": "1537",
"entity_id": "D007248",
"entity_type": "Disease",
"text_name": "male infertility"
},
{
"begin_idx":... | {
"begin_idx": "46",
"end_idx": "63",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "androgen receptor"
} | {
"begin_idx": "180",
"end_idx": "212",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndromes"
} | Yes |
9788719 | Analysis of the transactivation domain of the androgen receptor in patients with male infertility. | Genetic defects of the human androgen receptor (AR) can cause a wide spectrum of androgen insensitivity syndromes (AIS) in XY individuals ranging from phenotypic females, to defective spermatogenesis in otherwise normal males. We screened the non-polymorphic regions of exon 1, transactivation domain (TAD), of the AR g... | Analysis of the transactivation domain of the /"androgen receptor"/ in patients with /"male infertility"/. | Genetic defects of the human /"androgen receptor"/ (/"AR"/) can cause a wide spectrum of androgen insensitivity syndromes (AIS) in XY individuals ranging from phenotypic females, to defective spermatogenesis in otherwise normal males. We screened the non-polymorphic regions of exon 1, transactivation domain (TAD), of ... | [
{
"begin_idx": "81",
"end_idx": "97",
"entity_id": "D007248",
"entity_type": "Disease",
"text_name": "male infertility"
},
{
"begin_idx": "1521",
"end_idx": "1537",
"entity_id": "D007248",
"entity_type": "Disease",
"text_name": "male infertility"
},
{
"begin_idx":... | {
"begin_idx": "414",
"end_idx": "416",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "AR"
} | {
"begin_idx": "1521",
"end_idx": "1537",
"entity_id": "D007248",
"entity_type": "Disease",
"text_name": "male infertility"
} | No |
9788975 | Inhibition of norepinephrine-induced cardiac hypertrophy in s100beta transgenic mice. | We have recently reported that the Ca2+-binding protein S100beta was induced in rat heart after infarction and forced expression of S100beta in neonatal rat cardiac myocyte cultures inhibited alpha1-adrenergic induction of beta myosin heavy chain (MHC) and skeletal alpha-actin (skACT). We now extend this work by showi... | Inhibition of norepinephrine-induced cardiac hypertrophy in /"s100beta"/ transgenic mice. | We have recently reported that the Ca2+-binding protein /"S100beta"/ was induced in rat heart after infarction and forced expression of /"S100beta"/ in neonatal rat cardiac myocyte cultures inhibited alpha1-adrenergic induction of beta myosin heavy chain (MHC) and skeletal alpha-actin (skACT). We now extend this work ... | [
{
"begin_idx": "37",
"end_idx": "56",
"entity_id": "D006332",
"entity_type": "Disease",
"text_name": "cardiac hypertrophy"
},
{
"begin_idx": "585",
"end_idx": "596",
"entity_id": "D006984",
"entity_type": "Disease",
"text_name": "hypertrophy"
},
{
"begin_idx": "10... | {
"begin_idx": "60",
"end_idx": "68",
"entity_id": "6285",
"entity_type": "Gene",
"text_name": "s100beta"
} | {
"begin_idx": "467",
"end_idx": "488",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
} | Yes |
9788975 | Inhibition of norepinephrine-induced cardiac hypertrophy in s100beta transgenic mice. | We have recently reported that the Ca2+-binding protein S100beta was induced in rat heart after infarction and forced expression of S100beta in neonatal rat cardiac myocyte cultures inhibited alpha1-adrenergic induction of beta myosin heavy chain (MHC) and skeletal alpha-actin (skACT). We now extend this work by showi... | Inhibition of norepinephrine-induced cardiac hypertrophy in /"s100beta"/ transgenic mice. | We have recently reported that the Ca2+-binding protein /"S100beta"/ was induced in rat heart after /"infarction"/ and forced expression of /"S100beta"/ in neonatal rat cardiac myocyte cultures inhibited alpha1-adrenergic induction of beta myosin heavy chain (MHC) and skeletal alpha-actin (skACT). We now extend this w... | [
{
"begin_idx": "37",
"end_idx": "56",
"entity_id": "D006332",
"entity_type": "Disease",
"text_name": "cardiac hypertrophy"
},
{
"begin_idx": "585",
"end_idx": "596",
"entity_id": "D006984",
"entity_type": "Disease",
"text_name": "hypertrophy"
},
{
"begin_idx": "10... | {
"begin_idx": "142",
"end_idx": "150",
"entity_id": "6285",
"entity_type": "Gene",
"text_name": "S100beta"
} | {
"begin_idx": "182",
"end_idx": "192",
"entity_id": "D007238",
"entity_type": "Disease",
"text_name": "infarction"
} | No |
9792406 | Ten novel mutations found in Aniridia. | Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression.... | Ten novel mutations found in /"Aniridia"/. | /"Aniridia"/ (/"AN"/) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, /"AN"/ is inherited in an autosomal dominant fashion with almost complete penetrance but variable... | [
{
"begin_idx": "188",
"end_idx": "196",
"entity_id": "D002386",
"entity_type": "Disease",
"text_name": "cataract"
},
{
"begin_idx": "137",
"end_idx": "151",
"entity_id": "D003316",
"entity_type": "Disease",
"text_name": "corneal pannus"
},
{
"begin_idx": "212",
... | {
"begin_idx": "456",
"end_idx": "460",
"entity_id": "5080",
"entity_type": "Gene",
"text_name": "PAX6"
} | {
"begin_idx": "29",
"end_idx": "37",
"entity_id": "D015783",
"entity_type": "Disease",
"text_name": "Aniridia"
} | Yes |
9792406 | Ten novel mutations found in Aniridia. | Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression.... | Ten novel mutations found in Aniridia. | Aniridia (AN) is a sight-threatening congenital ocular disorder characterized by iris hypoplasia, corneal pannus, foveal and optic nerve hypoplasia, cataract formation, and glaucoma. In two-thirds of the patients, AN is inherited in an autosomal dominant fashion with almost complete penetrance but variable expression.... | [
{
"begin_idx": "188",
"end_idx": "196",
"entity_id": "D002386",
"entity_type": "Disease",
"text_name": "cataract"
},
{
"begin_idx": "137",
"end_idx": "151",
"entity_id": "D003316",
"entity_type": "Disease",
"text_name": "corneal pannus"
},
{
"begin_idx": "212",
... | {
"begin_idx": "456",
"end_idx": "460",
"entity_id": "5080",
"entity_type": "Gene",
"text_name": "PAX6"
} | {
"begin_idx": "496",
"end_idx": "525",
"entity_id": "D009396",
"entity_type": "Disease",
"text_name": "telomeric to the Wilms' tumor"
} | No |
9794433 | Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients. | This paper deals with the mechanisms of activation of NADPH oxidase investigated using EBV-transformed human B lymphoblastoid cell lines (B cells) from normal subjects and from patients affected by X-linked chronic granulomatous disease (CGD). The results reported are as follows. 1) In normal B cells, the NADPH oxidas... | Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and /"chronic granulomatous disease"/ patients. | This paper deals with the mechanisms of activation of NADPH oxidase investigated using EBV-transformed human B lymphoblastoid cell lines (B cells) from normal subjects and from patients affected by /"X-linked chronic granulomatous disease"/ (/"CGD"/). The results reported are as follows. 1) In normal B cells, the NADP... | [
{
"begin_idx": "137",
"end_idx": "166",
"entity_id": "D006105",
"entity_type": "Disease",
"text_name": "chronic granulomatous disease"
},
{
"begin_idx": "375",
"end_idx": "413",
"entity_id": "D006105",
"entity_type": "Disease",
"text_name": "X-linked chronic granulomatous... | {
"begin_idx": "540",
"end_idx": "548",
"entity_id": "1536",
"entity_type": "Gene",
"text_name": "gp91phox"
} | {
"begin_idx": "375",
"end_idx": "413",
"entity_id": "D006105",
"entity_type": "Disease",
"text_name": "X-linked chronic granulomatous disease"
} | Yes |
9794433 | Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and chronic granulomatous disease patients. | This paper deals with the mechanisms of activation of NADPH oxidase investigated using EBV-transformed human B lymphoblastoid cell lines (B cells) from normal subjects and from patients affected by X-linked chronic granulomatous disease (CGD). The results reported are as follows. 1) In normal B cells, the NADPH oxidas... | Nicotinamide-adenine dinucleotide phosphate oxidase assembly and activation in EBV-transformed B lymphoblastoid cell lines of normal and /"chronic granulomatous disease"/ patients. | This paper deals with the mechanisms of activation of NADPH oxidase investigated using EBV-transformed human B lymphoblastoid cell lines (B cells) from normal subjects and from patients affected by /"X-linked chronic granulomatous disease"/ (/"CGD"/). The results reported are as follows. 1) In normal B cells, the NADP... | [
{
"begin_idx": "137",
"end_idx": "166",
"entity_id": "D006105",
"entity_type": "Disease",
"text_name": "chronic granulomatous disease"
},
{
"begin_idx": "375",
"end_idx": "413",
"entity_id": "D006105",
"entity_type": "Disease",
"text_name": "X-linked chronic granulomatous... | {
"begin_idx": "1722",
"end_idx": "1729",
"entity_id": "4689",
"entity_type": "Gene",
"text_name": "p40phox"
} | {
"begin_idx": "415",
"end_idx": "418",
"entity_id": "D006105",
"entity_type": "Disease",
"text_name": "CGD"
} | No |
9799084 | The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer type. | The FE65 protein binds to the intracellular domain of the beta-amyloid precursor protein (betaPP) and may modulate the internalization of betaPP. This gene is highly expressed in regions of the brain specifically affected in dementia of the Alzheimer type (DAT). As a prelude to further investigations of the role of FE... | The human /"FE65"/ gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the /"Alzheimer type"/. | The /"FE65"/ protein binds to the intracellular domain of the beta-amyloid precursor protein (betaPP) and may modulate the internalization of betaPP. This gene is highly expressed in regions of the brain specifically affected in dementia of the /"Alzheimer type"/ (DAT). As a prelude to further investigations of the ro... | [
{
"begin_idx": "119",
"end_idx": "133",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer type"
},
{
"begin_idx": "376",
"end_idx": "390",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer type"
},
{
"begin_idx": "94... | {
"begin_idx": "10",
"end_idx": "14",
"entity_id": "322",
"entity_type": "Gene",
"text_name": "FE65"
} | {
"begin_idx": "119",
"end_idx": "133",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer type"
} | Yes |
9799084 | The human FE65 gene: genomic structure and an intronic biallelic polymorphism associated with sporadic dementia of the Alzheimer type. | The FE65 protein binds to the intracellular domain of the beta-amyloid precursor protein (betaPP) and may modulate the internalization of betaPP. This gene is highly expressed in regions of the brain specifically affected in dementia of the Alzheimer type (DAT). As a prelude to further investigations of the role of FE... | The human /"FE65"/ gene: genomic structure and an intronic biallelic polymorphism associated with /"sporadic dementia"/ of the Alzheimer type. | The /"FE65"/ protein binds to the intracellular domain of the beta-amyloid precursor protein (betaPP) and may modulate the internalization of betaPP. This gene is highly expressed in regions of the brain specifically affected in /"dementia"/ of the Alzheimer type (DAT). As a prelude to further investigations of the ro... | [
{
"begin_idx": "119",
"end_idx": "133",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer type"
},
{
"begin_idx": "376",
"end_idx": "390",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer type"
},
{
"begin_idx": "94... | {
"begin_idx": "2301",
"end_idx": "2305",
"entity_id": "322",
"entity_type": "Gene",
"text_name": "FE65"
} | {
"begin_idx": "94",
"end_idx": "111",
"entity_id": "D003704",
"entity_type": "Disease",
"text_name": "sporadic dementia"
} | No |
9804344 | Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. | We and others have previously shown that ichthyosis bullosa of Siemens, an autosomal dominant disorder characterized by epidermal thickening and blistering, is caused by mutations in the late-differentiation keratin K2e. Here, we have determined the genomic organization and complete sequence of the KRT2E gene, which c... | Genomic organization and fine mapping of the /"keratin 2e"/ gene (/"KRT2E"/): /"K2e"/ V1 domain polymorphism and novel mutations in /"ichthyosis bullosa of Siemens"/. | We and others have previously shown that /"ichthyosis bullosa of Siemens"/, an autosomal dominant disorder characterized by epidermal thickening and blistering, is caused by mutations in the late-differentiation keratin /"K2e"/. Here, we have determined the genomic organization and complete sequence of the /"KRT2E"/ g... | [
{
"begin_idx": "226",
"end_idx": "253",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal dominant disorder"
},
{
"begin_idx": "120",
"end_idx": "149",
"entity_id": "D053560",
"entity_type": "Disease",
"text_name": "ichthyosis bullosa of Siemens"
... | {
"begin_idx": "45",
"end_idx": "55",
"entity_id": "3849",
"entity_type": "Gene",
"text_name": "keratin 2e"
} | {
"begin_idx": "120",
"end_idx": "149",
"entity_id": "D053560",
"entity_type": "Disease",
"text_name": "ichthyosis bullosa of Siemens"
} | Yes |
9804344 | Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. | We and others have previously shown that ichthyosis bullosa of Siemens, an autosomal dominant disorder characterized by epidermal thickening and blistering, is caused by mutations in the late-differentiation keratin K2e. Here, we have determined the genomic organization and complete sequence of the KRT2E gene, which c... | Genomic organization and fine mapping of the /"keratin 2e"/ gene (/"KRT2E"/): /"K2e"/ V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens. | We and others have previously shown that ichthyosis bullosa of Siemens, an /"autosomal dominant disorder"/ characterized by epidermal thickening and blistering, is caused by mutations in the late-differentiation keratin /"K2e"/. Here, we have determined the genomic organization and complete sequence of the /"KRT2E"/ g... | [
{
"begin_idx": "226",
"end_idx": "253",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal dominant disorder"
},
{
"begin_idx": "120",
"end_idx": "149",
"entity_id": "D053560",
"entity_type": "Disease",
"text_name": "ichthyosis bullosa of Siemens"
... | {
"begin_idx": "790",
"end_idx": "793",
"entity_id": "3849",
"entity_type": "Gene",
"text_name": "K2e"
} | {
"begin_idx": "226",
"end_idx": "253",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal dominant disorder"
} | No |
9805126 | Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). | The original patient with the Weissenbacher-Zweym ller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for ... | Heterozygous glycine substitution in the /"COL11A2"/ gene in the original patient with the /"Weissenbacher-Zweym ller syndrome"/ demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). | The original patient with the /"Weissenbacher-Zweym ller syndrome"/ was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and /"COL11A2"/). No mutations were found in the COL2A1 gene but the /"COL11A2"/ gene contained a single-base mutation that converted a codon for an obligate glycine to ... | [
{
"begin_idx": "87",
"end_idx": "121",
"entity_id": "C535776",
"entity_type": "Disease",
"text_name": "Weissenbacher-Zweym ller syndrome"
},
{
"begin_idx": "233",
"end_idx": "267",
"entity_id": "C535776",
"entity_type": "Disease",
"text_name": "Weissenbacher-Zweym ller ... | {
"begin_idx": "41",
"end_idx": "48",
"entity_id": "1302",
"entity_type": "Gene",
"text_name": "COL11A2"
} | {
"begin_idx": "87",
"end_idx": "121",
"entity_id": "C535776",
"entity_type": "Disease",
"text_name": "Weissenbacher-Zweym ller syndrome"
} | Yes |
9805126 | Heterozygous glycine substitution in the COL11A2 gene in the original patient with the Weissenbacher-Zweym ller syndrome demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). | The original patient with the Weissenbacher-Zweym ller syndrome was analyzed for mutations in two candidate genes expressed in cartilage (COL2A1 and COL11A2). No mutations were found in the COL2A1 gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to a codon for ... | Heterozygous glycine substitution in the COL11A2 gene in the original patient with the /"Weissenbacher-Zweym ller syndrome"/ demonstrates its identity with heterozygous OSMED (nonocular Stickler syndrome). | The original patient with the /"Weissenbacher-Zweym ller syndrome"/ was analyzed for mutations in two candidate genes expressed in cartilage (/"COL2A1"/ and COL11A2). No mutations were found in the /"COL2A1"/ gene but the COL11A2 gene contained a single-base mutation that converted a codon for an obligate glycine to ... | [
{
"begin_idx": "87",
"end_idx": "121",
"entity_id": "C535776",
"entity_type": "Disease",
"text_name": "Weissenbacher-Zweym ller syndrome"
},
{
"begin_idx": "233",
"end_idx": "267",
"entity_id": "C535776",
"entity_type": "Disease",
"text_name": "Weissenbacher-Zweym ller ... | {
"begin_idx": "394",
"end_idx": "400",
"entity_id": "1280",
"entity_type": "Gene",
"text_name": "COL2A1"
} | {
"begin_idx": "233",
"end_idx": "267",
"entity_id": "C535776",
"entity_type": "Disease",
"text_name": "Weissenbacher-Zweym ller syndrome"
} | No |
9811940 | Genetic association of an alpha2-macroglobulin (Val1000lle) polymorphism and Alzheimer's disease. | alpha2-Macroglobulin (A2M) is a proteinase inhibitor found in association with senile plaques (SP) in Alzheimer's disease (AD). A2M has been implicated biochemically in binding and degradation of the amyloid beta (Abeta) protein which accumulates in SP. We studied the relationship between Alzheimer's disease and a com... | Genetic association of an /"alpha2-macroglobulin"/ (Val1000lle) polymorphism and /"Alzheimer's disease"/. | /"alpha2-Macroglobulin"/ (A2M) is a proteinase inhibitor found in association with senile plaques (SP) in /"Alzheimer's disease"/ (/"AD"/). A2M has been implicated biochemically in binding and degradation of the amyloid beta (Abeta) protein which accumulates in SP. We studied the relationship between /"Alzheimer's dis... | [
{
"begin_idx": "77",
"end_idx": "96",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "200",
"end_idx": "219",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_i... | {
"begin_idx": "26",
"end_idx": "46",
"entity_id": "2",
"entity_type": "Gene",
"text_name": "alpha2-macroglobulin"
} | {
"begin_idx": "77",
"end_idx": "96",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
} | Yes |
9811940 | Genetic association of an alpha2-macroglobulin (Val1000lle) polymorphism and Alzheimer's disease. | alpha2-Macroglobulin (A2M) is a proteinase inhibitor found in association with senile plaques (SP) in Alzheimer's disease (AD). A2M has been implicated biochemically in binding and degradation of the amyloid beta (Abeta) protein which accumulates in SP. We studied the relationship between Alzheimer's disease and a com... | Genetic association of an alpha2-macroglobulin (Val1000lle) polymorphism and /"Alzheimer's disease"/. | alpha2-Macroglobulin (A2M) is a proteinase inhibitor found in association with senile plaques (SP) in /"Alzheimer's disease"/ (/"AD"/). A2M has been implicated biochemically in binding and degradation of the amyloid beta (Abeta) protein which accumulates in SP. We studied the relationship between /"Alzheimer's disease... | [
{
"begin_idx": "77",
"end_idx": "96",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_idx": "200",
"end_idx": "219",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
},
{
"begin_i... | {
"begin_idx": "1319",
"end_idx": "1322",
"entity_id": "4035",
"entity_type": "Gene",
"text_name": "LRP"
} | {
"begin_idx": "1045",
"end_idx": "1064",
"entity_id": "D000544",
"entity_type": "Disease",
"text_name": "Alzheimer's disease"
} | No |
9825838 | Predisposition towards urolithiasis associated with the NQO1 null-allele. | The distribution of two alleles of the NQO1 gene encoding NADP(H):quinone oxidoreductase was studied in 140 urolithiasis patients and 271 control individuals. The minor allele encoding a protein lacking quinone reductase activity was significantly more frequent (q = 0.214) among these patients than in control individu... | Predisposition towards /"urolithiasis"/ associated with the /"NQO1"/ null-allele. | The distribution of two alleles of the /"NQO1"/ gene encoding NADP(H):quinone oxidoreductase was studied in 140 /"urolithiasis"/ patients and 271 control individuals. The minor allele encoding a protein lacking quinone reductase activity was significantly more frequent (q = 0.214) among these patients than in control ... | [
{
"begin_idx": "442",
"end_idx": "454",
"entity_id": "D007669",
"entity_type": "Disease",
"text_name": "kidney stone"
},
{
"begin_idx": "927",
"end_idx": "939",
"entity_id": "D007669",
"entity_type": "Disease",
"text_name": "kidney stone"
},
{
"begin_idx": "23",
... | {
"begin_idx": "56",
"end_idx": "60",
"entity_id": "1728",
"entity_type": "Gene",
"text_name": "NQO1"
} | {
"begin_idx": "23",
"end_idx": "35",
"entity_id": "D052878",
"entity_type": "Disease",
"text_name": "urolithiasis"
} | Yes |
9825838 | Predisposition towards urolithiasis associated with the NQO1 null-allele. | The distribution of two alleles of the NQO1 gene encoding NADP(H):quinone oxidoreductase was studied in 140 urolithiasis patients and 271 control individuals. The minor allele encoding a protein lacking quinone reductase activity was significantly more frequent (q = 0.214) among these patients than in control individu... | Predisposition towards /"urolithiasis"/ associated with the NQO1 null-allele. | The distribution of two alleles of the NQO1 gene encoding /"NADP(H)"/:quinone oxidoreductase was studied in 140 /"urolithiasis"/ patients and 271 control individuals. The minor allele encoding a protein lacking quinone reductase activity was significantly more frequent (q = 0.214) among these patients than in control ... | [
{
"begin_idx": "442",
"end_idx": "454",
"entity_id": "D007669",
"entity_type": "Disease",
"text_name": "kidney stone"
},
{
"begin_idx": "927",
"end_idx": "939",
"entity_id": "D007669",
"entity_type": "Disease",
"text_name": "kidney stone"
},
{
"begin_idx": "23",
... | {
"begin_idx": "627",
"end_idx": "634",
"entity_id": "1666",
"entity_type": "Gene",
"text_name": "NADP(H)"
} | {
"begin_idx": "23",
"end_idx": "35",
"entity_id": "D052878",
"entity_type": "Disease",
"text_name": "urolithiasis"
} | No |
9827908 | Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH). | The PK-LR gene has been studied in 12 unrelated patients with red cell pyruvate kinase deficiency and hereditary nonspherocytic haemolytic anaemia (CNSHA). The entire codifying region of the R-type PK gene and the flanking intronic regions were analysed by single-stranded conformation polymorphism (SSCP) followed by d... | Molecular characterization of the /"PK-LR"/ gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH). | The /"PK-LR"/ gene has been studied in 12 unrelated patients with red cell /"pyruvate kinase deficiency"/ and hereditary nonspherocytic haemolytic anaemia (CNSHA). The entire codifying region of the R-type PK gene and the flanking intronic regions were analysed by single-stranded conformation polymorphism (SSCP) follo... | [
{
"begin_idx": "234",
"end_idx": "260",
"entity_id": "C564858",
"entity_type": "Disease",
"text_name": "pyruvate kinase deficiency"
},
{
"begin_idx": "265",
"end_idx": "309",
"entity_id": "D000745",
"entity_type": "Disease",
"text_name": "hereditary nonspherocytic haemoly... | {
"begin_idx": "34",
"end_idx": "39",
"entity_id": "5313",
"entity_type": "Gene",
"text_name": "PK-LR"
} | {
"begin_idx": "234",
"end_idx": "260",
"entity_id": "C564858",
"entity_type": "Disease",
"text_name": "pyruvate kinase deficiency"
} | Yes |
9827908 | Molecular characterization of the PK-LR gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH). | The PK-LR gene has been studied in 12 unrelated patients with red cell pyruvate kinase deficiency and hereditary nonspherocytic haemolytic anaemia (CNSHA). The entire codifying region of the R-type PK gene and the flanking intronic regions were analysed by single-stranded conformation polymorphism (SSCP) followed by d... | Molecular characterization of the /"PK-LR"/ gene in pyruvate kinase deficient Spanish patients. Red Cell Pathology Group of the Spanish Society of Haematology (AEHH). | The /"PK-LR"/ gene has been studied in 12 unrelated patients with red cell pyruvate kinase deficiency and /"hereditary nonspherocytic haemolytic anaemia"/ (CNSHA). The entire codifying region of the R-type PK gene and the flanking intronic regions were analysed by single-stranded conformation polymorphism (SSCP) follo... | [
{
"begin_idx": "234",
"end_idx": "260",
"entity_id": "C564858",
"entity_type": "Disease",
"text_name": "pyruvate kinase deficiency"
},
{
"begin_idx": "265",
"end_idx": "309",
"entity_id": "D000745",
"entity_type": "Disease",
"text_name": "hereditary nonspherocytic haemoly... | {
"begin_idx": "167",
"end_idx": "172",
"entity_id": "5313",
"entity_type": "Gene",
"text_name": "PK-LR"
} | {
"begin_idx": "265",
"end_idx": "309",
"entity_id": "D000745",
"entity_type": "Disease",
"text_name": "hereditary nonspherocytic haemolytic anaemia"
} | No |
9829908 | Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene. | Denaturing gradient gel electrophoresis (DGGE) is commonly used to search for point mutations in DNA fragments amplified in vitro by the polymerase chain reaction (PCR). For the complete detection of mutations in large genes with many exons, the DGGE-PCR approach, or any other PCR-based method, requires many primer se... | Use of denaturing gradient gel blots to screen for point mutations in the /"factor VIII"/ gene. | Denaturing gradient gel electrophoresis (DGGE) is commonly used to search for point mutations in DNA fragments amplified in vitro by the polymerase chain reaction (PCR). For the complete detection of mutations in large genes with many exons, the DGGE-PCR approach, or any other PCR-based method, requires many primer se... | [
{
"begin_idx": "786",
"end_idx": "798",
"entity_id": "D006467",
"entity_type": "Disease",
"text_name": "hemophilia A"
},
{
"begin_idx": "74",
"end_idx": "85",
"entity_id": "2157",
"entity_type": "Gene",
"text_name": "factor VIII"
},
{
"begin_idx": "843",
"end_... | {
"begin_idx": "74",
"end_idx": "85",
"entity_id": "2157",
"entity_type": "Gene",
"text_name": "factor VIII"
} | {
"begin_idx": "786",
"end_idx": "798",
"entity_id": "D006467",
"entity_type": "Disease",
"text_name": "hemophilia A"
} | Yes |
9834209 | Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. | The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of heme biosynthesis resulting from mutations in the uropor... | /"Congenital erythropoietic porphyria"/ successfully treated by allogeneic bone marrow transplantation. | The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with /"congenital erythropoietic porphyria"/ (/"CEP"/), an autosomal recessive inborn error of heme biosynthesis resulting from mutations in th... | [
{
"begin_idx": "0",
"end_idx": "35",
"entity_id": "D017092",
"entity_type": "Disease",
"text_name": "Congenital erythropoietic porphyria"
},
{
"begin_idx": "281",
"end_idx": "316",
"entity_id": "D017092",
"entity_type": "Disease",
"text_name": "congenital erythropoietic p... | {
"begin_idx": "413",
"end_idx": "442",
"entity_id": "7390",
"entity_type": "Gene",
"text_name": "uroporphyrinogen III synthase"
} | {
"begin_idx": "0",
"end_idx": "35",
"entity_id": "D017092",
"entity_type": "Disease",
"text_name": "Congenital erythropoietic porphyria"
} | Yes |
9834209 | Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. | The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with congenital erythropoietic porphyria (CEP), an autosomal recessive inborn error of heme biosynthesis resulting from mutations in the uropor... | Congenital erythropoietic porphyria successfully treated by allogeneic bone marrow transplantation. | The long-term biochemical and clinical effectiveness of allogenic bone marrow transplantation (BMT) was shown in a severely affected, transfusion-dependent 18-month-old female with congenital erythropoietic porphyria (CEP), an /"autosomal recessive inborn error"/ of heme biosynthesis resulting from mutations in the /"... | [
{
"begin_idx": "0",
"end_idx": "35",
"entity_id": "D017092",
"entity_type": "Disease",
"text_name": "Congenital erythropoietic porphyria"
},
{
"begin_idx": "281",
"end_idx": "316",
"entity_id": "D017092",
"entity_type": "Disease",
"text_name": "congenital erythropoietic p... | {
"begin_idx": "413",
"end_idx": "442",
"entity_id": "7390",
"entity_type": "Gene",
"text_name": "uroporphyrinogen III synthase"
} | {
"begin_idx": "327",
"end_idx": "359",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive inborn error"
} | No |
9856504 | Functional characterisation of mutations in the ligand-binding domain of the androgen receptor gene in patients with androgen insensitivity syndrome. | Five mutations in the ligand-binding domain of the androgen receptor gene were identified in patients with complete (A765T, C784Y, R831X and M895T) or partial (R840G) androgen insensitivity. A765T and R831X have been reported previously whereas the other three mutations are novel. Receptors carrying these mutations we... | Functional characterisation of mutations in the ligand-binding domain of the /"androgen receptor"/ gene in patients with /"androgen insensitivity syndrome"/. | Five mutations in the ligand-binding domain of the /"androgen receptor"/ gene were identified in patients with complete (A765T, C784Y, R831X and M895T) or partial (R840G) androgen insensitivity. A765T and R831X have been reported previously whereas the other three mutations are novel. Receptors carrying these mutation... | [
{
"begin_idx": "117",
"end_idx": "148",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndrome"
},
{
"begin_idx": "77",
"end_idx": "94",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "androgen receptor"
},
{
"begi... | {
"begin_idx": "77",
"end_idx": "94",
"entity_id": "367",
"entity_type": "Gene",
"text_name": "androgen receptor"
} | {
"begin_idx": "117",
"end_idx": "148",
"entity_id": "D013734",
"entity_type": "Disease",
"text_name": "androgen insensitivity syndrome"
} | Yes |
9887333 | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by neurological and immunological symptoms, radiosensitivity and cancer predisposition. The gene mutated in AT, designated the ATM gene, encodes a large protein kinase with a PI-3 kinase-related domain. In this study, we investigated the mutati... | Characterization of /"ATM"/ gene mutations in 66 /"ataxia telangiectasia"/ families. | /"Ataxia telangiectasia"/ (/"AT"/) is an autosomal recessive disease characterized by neurological and immunological symptoms, radiosensitivity and cancer predisposition. The gene mutated in /"AT"/, designated the /"ATM"/ gene, encodes a large protein kinase with a PI-3 kinase-related domain. In this study, we investi... | [
{
"begin_idx": "45",
"end_idx": "66",
"entity_id": "D001260",
"entity_type": "Disease",
"text_name": "ataxia telangiectasia"
},
{
"begin_idx": "77",
"end_idx": "98",
"entity_id": "D001260",
"entity_type": "Disease",
"text_name": "Ataxia telangiectasia"
},
{
"begin... | {
"begin_idx": "20",
"end_idx": "23",
"entity_id": "472",
"entity_type": "Gene",
"text_name": "ATM"
} | {
"begin_idx": "45",
"end_idx": "66",
"entity_id": "D001260",
"entity_type": "Disease",
"text_name": "ataxia telangiectasia"
} | Yes |
9887333 | Characterization of ATM gene mutations in 66 ataxia telangiectasia families. | Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by neurological and immunological symptoms, radiosensitivity and cancer predisposition. The gene mutated in AT, designated the ATM gene, encodes a large protein kinase with a PI-3 kinase-related domain. In this study, we investigated the mutati... | Characterization of /"ATM"/ gene mutations in 66 ataxia telangiectasia families. | Ataxia telangiectasia (AT) is an autosomal recessive disease characterized by neurological and immunological symptoms, radiosensitivity and /"cancer"/ predisposition. The gene mutated in AT, designated the /"ATM"/ gene, encodes a large protein kinase with a PI-3 kinase-related domain. In this study, we investigated th... | [
{
"begin_idx": "45",
"end_idx": "66",
"entity_id": "D001260",
"entity_type": "Disease",
"text_name": "ataxia telangiectasia"
},
{
"begin_idx": "77",
"end_idx": "98",
"entity_id": "D001260",
"entity_type": "Disease",
"text_name": "Ataxia telangiectasia"
},
{
"begin... | {
"begin_idx": "1328",
"end_idx": "1331",
"entity_id": "472",
"entity_type": "Gene",
"text_name": "ATM"
} | {
"begin_idx": "217",
"end_idx": "223",
"entity_id": "D009369",
"entity_type": "Disease",
"text_name": "cancer"
} | No |
9888857 | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in CB1 receptor knockout mice. | The function of the central cannabinoid receptor (CB1) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opiates were... | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in /"CB1"/ receptor knockout mice. | The function of the central cannabinoid receptor (/"CB1"/) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the /"CB1"/ receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opia... | [
{
"begin_idx": "378",
"end_idx": "389",
"entity_id": "D007022",
"entity_type": "Disease",
"text_name": "hypotension"
},
{
"begin_idx": "345",
"end_idx": "356",
"entity_id": "D007035",
"entity_type": "Disease",
"text_name": "hypothermia"
},
{
"begin_idx": "504",
... | {
"begin_idx": "77",
"end_idx": "80",
"entity_id": "1268",
"entity_type": "Gene",
"text_name": "CB1"
} | {
"begin_idx": "685",
"end_idx": "695",
"entity_id": "D019966",
"entity_type": "Disease",
"text_name": "dependence"
} | Yes |
9888857 | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in CB1 receptor knockout mice. | The function of the central cannabinoid receptor (CB1) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opiates were... | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in /"CB1"/ receptor knockout mice. | The function of the central cannabinoid receptor (/"CB1"/) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the /"CB1"/ receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and /"hypotension"/. The acute effects of ... | [
{
"begin_idx": "378",
"end_idx": "389",
"entity_id": "D007022",
"entity_type": "Disease",
"text_name": "hypotension"
},
{
"begin_idx": "345",
"end_idx": "356",
"entity_id": "D007035",
"entity_type": "Disease",
"text_name": "hypothermia"
},
{
"begin_idx": "504",
... | {
"begin_idx": "77",
"end_idx": "80",
"entity_id": "1268",
"entity_type": "Gene",
"text_name": "CB1"
} | {
"begin_idx": "378",
"end_idx": "389",
"entity_id": "D007022",
"entity_type": "Disease",
"text_name": "hypotension"
} | Yes |
9888857 | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in CB1 receptor knockout mice. | The function of the central cannabinoid receptor (CB1) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opiates were... | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in /"CB1"/ receptor knockout mice. | The function of the central cannabinoid receptor (/"CB1"/) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the /"CB1"/ receptor in mediating analgesia, reinforcement, /"hypothermia"/, hypolocomotion, and hypotension. The acute effects of ... | [
{
"begin_idx": "378",
"end_idx": "389",
"entity_id": "D007022",
"entity_type": "Disease",
"text_name": "hypotension"
},
{
"begin_idx": "345",
"end_idx": "356",
"entity_id": "D007035",
"entity_type": "Disease",
"text_name": "hypothermia"
},
{
"begin_idx": "504",
... | {
"begin_idx": "77",
"end_idx": "80",
"entity_id": "1268",
"entity_type": "Gene",
"text_name": "CB1"
} | {
"begin_idx": "345",
"end_idx": "356",
"entity_id": "D007035",
"entity_type": "Disease",
"text_name": "hypothermia"
} | Yes |
9888857 | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in CB1 receptor knockout mice. | The function of the central cannabinoid receptor (CB1) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opiates were... | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in /"CB1"/ receptor knockout mice. | The function of the central cannabinoid receptor (/"CB1"/) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the /"CB1"/ receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opia... | [
{
"begin_idx": "378",
"end_idx": "389",
"entity_id": "D007022",
"entity_type": "Disease",
"text_name": "hypotension"
},
{
"begin_idx": "345",
"end_idx": "356",
"entity_id": "D007035",
"entity_type": "Disease",
"text_name": "hypothermia"
},
{
"begin_idx": "504",
... | {
"begin_idx": "583",
"end_idx": "586",
"entity_id": "1268",
"entity_type": "Gene",
"text_name": "CB1"
} | {
"begin_idx": "504",
"end_idx": "523",
"entity_id": "D013375",
"entity_type": "Disease",
"text_name": "withdrawal syndrome"
} | No |
9888857 | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in CB1 receptor knockout mice. | The function of the central cannabinoid receptor (CB1) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opiates were... | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in /"CB1"/ receptor knockout mice. | The function of the central cannabinoid receptor (/"CB1"/) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the /"CB1"/ receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opia... | [
{
"begin_idx": "378",
"end_idx": "389",
"entity_id": "D007022",
"entity_type": "Disease",
"text_name": "hypotension"
},
{
"begin_idx": "345",
"end_idx": "356",
"entity_id": "D007035",
"entity_type": "Disease",
"text_name": "hypothermia"
},
{
"begin_idx": "504",
... | {
"begin_idx": "77",
"end_idx": "80",
"entity_id": "1268",
"entity_type": "Gene",
"text_name": "CB1"
} | {
"begin_idx": "504",
"end_idx": "523",
"entity_id": "D013375",
"entity_type": "Disease",
"text_name": "withdrawal syndrome"
} | No |
9888857 | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in CB1 receptor knockout mice. | The function of the central cannabinoid receptor (CB1) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the CB1 receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opiates were... | Unresponsiveness to cannabinoids and reduced addictive effects of opiates in /"CB1"/ receptor knockout mice. | The function of the central cannabinoid receptor (/"CB1"/) was investigated by invalidating its gene. Mutant mice did not respond to cannabinoid drugs, demonstrating the exclusive role of the /"CB1"/ receptor in mediating analgesia, reinforcement, hypothermia, hypolocomotion, and hypotension. The acute effects of opia... | [
{
"begin_idx": "378",
"end_idx": "389",
"entity_id": "D007022",
"entity_type": "Disease",
"text_name": "hypotension"
},
{
"begin_idx": "345",
"end_idx": "356",
"entity_id": "D007035",
"entity_type": "Disease",
"text_name": "hypothermia"
},
{
"begin_idx": "504",
... | {
"begin_idx": "293",
"end_idx": "296",
"entity_id": "1268",
"entity_type": "Gene",
"text_name": "CB1"
} | {
"begin_idx": "504",
"end_idx": "523",
"entity_id": "D013375",
"entity_type": "Disease",
"text_name": "withdrawal syndrome"
} | No |
9920104 | Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. | Pendred's syndrome is an autosomal recessive disease characterized by goiter, impaired iodide organification, and congenital sensorineural deafness. The gene mutated in Pendred's syndrome, PDS (Pendred's syndrome gene), was cloned very recently and encodes the putative sulfate transporter pendrin. Pendred's syndrome m... | Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with /"Pendred's syndrome"/ associated with a novel mutation in the /"PDS"/DS"/ gene. | /"Pendred's syndrome"/ is an autosomal recessive disease characterized by goiter, impaired iodide organification, and congenital sensorineural deafness. The gene mutated in /"Pendred's syndrome"/, /"PDS"/DS"/ (/"Pendred's syndrome gene"/ne"/), was cloned very recently and encodes the putative sulfate transporter pendr... | [
{
"begin_idx": "89",
"end_idx": "107",
"entity_id": "C536648",
"entity_type": "Disease",
"text_name": "Pendred's syndrome"
},
{
"begin_idx": "148",
"end_idx": "151",
"entity_id": "C536648",
"entity_type": "Disease",
"text_name": "PDS"
},
{
"begin_idx": "158",
... | {
"begin_idx": "352",
"end_idx": "375",
"entity_id": "5172",
"entity_type": "Gene",
"text_name": "Pendred's syndrome gene"
} | {
"begin_idx": "352",
"end_idx": "375",
"entity_id": "C536648",
"entity_type": "Disease",
"text_name": "Pendred's syndrome gene"
} | Yes |
9920104 | Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the PDS gene. | Pendred's syndrome is an autosomal recessive disease characterized by goiter, impaired iodide organification, and congenital sensorineural deafness. The gene mutated in Pendred's syndrome, PDS (Pendred's syndrome gene), was cloned very recently and encodes the putative sulfate transporter pendrin. Pendred's syndrome m... | Phenocopies for deafness and goiter development in a large inbred Brazilian kindred with Pendred's syndrome associated with a novel mutation in the /"PDS"/ gene. | Pendred's syndrome is an /"autosomal recessive disease"/ characterized by goiter, impaired iodide organification, and congenital sensorineural deafness. The gene mutated in Pendred's syndrome, /"PDS"/ (/"Pendred's syndrome gene"/), was cloned very recently and encodes the putative sulfate transporter pendrin. Pendred'... | [
{
"begin_idx": "89",
"end_idx": "107",
"entity_id": "C536648",
"entity_type": "Disease",
"text_name": "Pendred's syndrome"
},
{
"begin_idx": "148",
"end_idx": "151",
"entity_id": "C536648",
"entity_type": "Disease",
"text_name": "PDS"
},
{
"begin_idx": "158",
... | {
"begin_idx": "838",
"end_idx": "841",
"entity_id": "5172",
"entity_type": "Gene",
"text_name": "PDS"
} | {
"begin_idx": "183",
"end_idx": "210",
"entity_id": "D030342",
"entity_type": "Disease",
"text_name": "autosomal recessive disease"
} | No |
9921913 | Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. | We present a mutational analysis of the iduronate-2-sulfatase (IDS) gene of 36 Russian patients with Hunter syndrome. Among 29 mutant alleles, there were 19 missense mutations, 1 nonsense mutation, 6 mutations affecting splice sites, and 3 major structural alterations resulting in deletions. Of the 25 different mutati... | Mutational spectrum of the /"iduronate-2-sulfatase"/ (/"IDS"/) gene in 36 unrelated Russian /"MPS II"/ patients. | We present a mutational analysis of the /"iduronate-2-sulfatase"/ (/"IDS"/) gene of 36 Russian patients with /"Hunter syndrome"/. Among 29 mutant alleles, there were 19 missense mutations, 1 nonsense mutation, 6 mutations affecting splice sites, and 3 major structural alterations resulting in deletions. Of the 25 diff... | [
{
"begin_idx": "84",
"end_idx": "90",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "MPS II"
},
{
"begin_idx": "202",
"end_idx": "217",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "Hunter syndrome"
},
{
"begin_idx": "27",
"e... | {
"begin_idx": "27",
"end_idx": "48",
"entity_id": "3423",
"entity_type": "Gene",
"text_name": "iduronate-2-sulfatase"
} | {
"begin_idx": "202",
"end_idx": "217",
"entity_id": "D016532",
"entity_type": "Disease",
"text_name": "Hunter syndrome"
} | Yes |
9927496 | The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. | Heterozygous mutations of the receptor CD95 (Fas/Apo-1) are associated with defective lymphocyte apoptosis and a clinical disease characterized by lymphadenopathy, splenomegaly, and systemic autoimmunity. From our cohort of 11 families, we studied eight patients to define the mechanisms responsible for defective CD95-... | The molecular basis for apoptotic defects in patients with /"CD95"/ (Fas//"Apo-1"/) mutations. | Heterozygous mutations of the receptor /"CD95"/ (Fas//"Apo-1"/) are associated with defective lymphocyte apoptosis and a clinical disease characterized by lymphadenopathy, splenomegaly, and systemic autoimmunity. From our cohort of 11 families, we studied eight patients to define the mechanisms responsible for defecti... | [
{
"begin_idx": "828",
"end_idx": "848",
"entity_id": "C535509",
"entity_type": "Disease",
"text_name": "extracellular domain"
},
{
"begin_idx": "850",
"end_idx": "853",
"entity_id": "C535509",
"entity_type": "Disease",
"text_name": "ECD"
},
{
"begin_idx": "1039",
... | {
"begin_idx": "69",
"end_idx": "74",
"entity_id": "355",
"entity_type": "Gene",
"text_name": "Apo-1"
} | {
"begin_idx": "701",
"end_idx": "722",
"entity_id": "D056735",
"entity_type": "Disease",
"text_name": "Canale-Smith syndrome"
} | Yes |
9927496 | The molecular basis for apoptotic defects in patients with CD95 (Fas/Apo-1) mutations. | Heterozygous mutations of the receptor CD95 (Fas/Apo-1) are associated with defective lymphocyte apoptosis and a clinical disease characterized by lymphadenopathy, splenomegaly, and systemic autoimmunity. From our cohort of 11 families, we studied eight patients to define the mechanisms responsible for defective CD95-... | The molecular basis for apoptotic defects in patients with /"CD95"/ (Fas//"Apo-1"/) mutations. | Heterozygous mutations of the receptor /"CD95"/ (Fas//"Apo-1"/) are associated with defective lymphocyte apoptosis and a clinical disease characterized by lymphadenopathy, splenomegaly, and systemic autoimmunity. From our cohort of 11 families, we studied eight patients to define the mechanisms responsible for defecti... | [
{
"begin_idx": "828",
"end_idx": "848",
"entity_id": "C535509",
"entity_type": "Disease",
"text_name": "extracellular domain"
},
{
"begin_idx": "850",
"end_idx": "853",
"entity_id": "C535509",
"entity_type": "Disease",
"text_name": "ECD"
},
{
"begin_idx": "1039",
... | {
"begin_idx": "401",
"end_idx": "405",
"entity_id": "355",
"entity_type": "Gene",
"text_name": "CD95"
} | {
"begin_idx": "646",
"end_idx": "649",
"entity_id": "D015270",
"entity_type": "Disease",
"text_name": "ICD"
} | No |
9949172 | Muc-1 core protein is expressed on multiple myeloma cells and is induced by dexamethasone. | Monoclonal antibodies (MoAbs) that selectively identify Muc-1 core protein (MoAbs DF3-P, VU-4H5) determinants were used to identify the Muc-1 glycoform present on 7 multiple myeloma (MM) cell lines, 5 MM patient plasma cells, 12 MM patient B cells, as well as 32 non-MM cell lines and normal hematopoietic cells. Flow c... | /"Muc-1"/ core protein is expressed on /"multiple myeloma"/ cells and is induced by dexamethasone. | Monoclonal antibodies (MoAbs) that selectively identify /"Muc-1"/ core protein (MoAbs DF3-P, VU-4H5) determinants were used to identify the /"Muc-1"/ glycoform present on 7 /"multiple myeloma"/ (/"MM"/) cell lines, 5 /"MM"/ patient plasma cells, 12 /"MM"/ patient B cells, as well as 32 non-/"MM"/ cell lines and normal... | [
{
"begin_idx": "35",
"end_idx": "51",
"entity_id": "D009101",
"entity_type": "Disease",
"text_name": "multiple myeloma"
},
{
"begin_idx": "256",
"end_idx": "272",
"entity_id": "D009101",
"entity_type": "Disease",
"text_name": "multiple myeloma"
},
{
"begin_idx": "... | {
"begin_idx": "0",
"end_idx": "5",
"entity_id": "4582",
"entity_type": "Gene",
"text_name": "Muc-1"
} | {
"begin_idx": "35",
"end_idx": "51",
"entity_id": "D009101",
"entity_type": "Disease",
"text_name": "multiple myeloma"
} | Yes |
9949172 | Muc-1 core protein is expressed on multiple myeloma cells and is induced by dexamethasone. | Monoclonal antibodies (MoAbs) that selectively identify Muc-1 core protein (MoAbs DF3-P, VU-4H5) determinants were used to identify the Muc-1 glycoform present on 7 multiple myeloma (MM) cell lines, 5 MM patient plasma cells, 12 MM patient B cells, as well as 32 non-MM cell lines and normal hematopoietic cells. Flow c... | Muc-1 core protein is expressed on multiple myeloma cells and is induced by dexamethasone. | Monoclonal antibodies (MoAbs) that selectively identify Muc-1 core protein (MoAbs DF3-P, VU-4H5) determinants were used to identify the Muc-1 glycoform present on 7 multiple myeloma (MM) cell lines, 5 MM patient plasma cells, 12 MM patient B cells, as well as 32 non-MM cell lines and normal hematopoietic cells. Flow c... | [
{
"begin_idx": "35",
"end_idx": "51",
"entity_id": "D009101",
"entity_type": "Disease",
"text_name": "multiple myeloma"
},
{
"begin_idx": "256",
"end_idx": "272",
"entity_id": "D009101",
"entity_type": "Disease",
"text_name": "multiple myeloma"
},
{
"begin_idx": "... | {
"begin_idx": "772",
"end_idx": "776",
"entity_id": "947",
"entity_type": "Gene",
"text_name": "CD34"
} | {
"begin_idx": "1345",
"end_idx": "1359",
"entity_id": "D010051",
"entity_type": "Disease",
"text_name": "ovarian cancer"
} | No |
9950439 | Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of myocardial infarction: a case-control study. | BACKGROUND: The platelet membrane glycoprotein Ia/IIa plays a major part in platelet function as a primary receptor for collagen. A previous report showed a variation of glycoprotein Ia/IIa receptor density and function associated with two silent and linked polymorphisms (807C/T and 873G/A) within the glycoprotein Ia ... | Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of /"myocardial infarction"/: a case-control study. | BACKGROUND: The /"platelet membrane glycoprotein Ia"//IIa plays a major part in platelet function as a primary receptor for collagen. A previous report showed a variation of glycoprotein Ia/IIa receptor density and function associated with two silent and linked polymorphisms (807C/T and 873G/A) within the glycoprotein... | [
{
"begin_idx": "472",
"end_idx": "489",
"entity_id": "D001791",
"entity_type": "Disease",
"text_name": "platelet thrombus"
},
{
"begin_idx": "1458",
"end_idx": "1466",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "144... | {
"begin_idx": "155",
"end_idx": "188",
"entity_id": "3673",
"entity_type": "Gene",
"text_name": "platelet membrane glycoprotein Ia"
} | {
"begin_idx": "537",
"end_idx": "564",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "acute myocardial infarction"
} | Yes |
9950439 | Association of two silent polymorphisms of platelet glycoprotein Ia/IIa receptor with risk of myocardial infarction: a case-control study. | BACKGROUND: The platelet membrane glycoprotein Ia/IIa plays a major part in platelet function as a primary receptor for collagen. A previous report showed a variation of glycoprotein Ia/IIa receptor density and function associated with two silent and linked polymorphisms (807C/T and 873G/A) within the glycoprotein Ia ... | Association of two silent polymorphisms of platelet /"glycoprotein Ia"//IIa receptor with risk of /"myocardial infarction"/: a case-control study. | BACKGROUND: The platelet membrane glycoprotein Ia/IIa plays a major part in platelet function as a primary receptor for collagen. A previous report showed a variation of /"glycoprotein Ia"//IIa receptor density and function associated with two silent and linked polymorphisms (807C/T and 873G/A) within the /"glycoprote... | [
{
"begin_idx": "472",
"end_idx": "489",
"entity_id": "D001791",
"entity_type": "Disease",
"text_name": "platelet thrombus"
},
{
"begin_idx": "1458",
"end_idx": "1466",
"entity_id": "D003920",
"entity_type": "Disease",
"text_name": "diabetes"
},
{
"begin_idx": "144... | {
"begin_idx": "52",
"end_idx": "67",
"entity_id": "22915",
"entity_type": "Gene",
"text_name": "glycoprotein Ia"
} | {
"begin_idx": "94",
"end_idx": "115",
"entity_id": "D009203",
"entity_type": "Disease",
"text_name": "myocardial infarction"
} | No |
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