mneb/biored · Datasets at Hugging Face

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Hepatocyte nuclear factor - 6 : associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion . The transcription factor hepatocyte nuclear factor ( HNF ) - 6 is an upstream regulator of several genes involved in the pathogenesis of maturity - onset dia...	{ "entities": { "gene_or_gene_product": [ { "text": "Hepatocyte nuclear factor - 6", "start": 0, "end": 29 }, { "text": "insulin", "start": 143, "end": 150 }, { "text": "hepatocyte nuclear factor ( HNF ) - 6", "start": 1...	[]
Langerin , a novel C - type lectin specific to Langerhans cells , is an endocytic receptor that induces the formation of Birbeck granules . We have identified a type II Ca2 + - dependent lectin displaying mannose - binding specificity , exclusively expressed by Langerhans cells ( LC ) , and named Langerin . LC are uniq...	{ "entities": { "gene_or_gene_product": [ { "text": "Langerin", "start": 0, "end": 8 }, { "text": "C - type lectin", "start": 19, "end": 34 }, { "text": "type II Ca2 + - dependent lectin", "start": 161, "end": 19...	[]
Founder mutations in the BRCA1 gene in Polish families with breast - ovarian cancer . We have undertaken a hospital - based study , to identify possible BRCA1 and BRCA2 founder mutations in the Polish population . The study group consisted of 66 Polish families with cancer who have at least three related females affect...	{ "entities": { "gene_or_gene_product": [ { "text": "BRCA1", "start": 25, "end": 30 }, { "text": "BRCA1", "start": 153, "end": 158 }, { "text": "BRCA2", "start": 163, "end": 168 }, { "text": "...	[]
Apomorphine : an underutilized therapy for Parkinson ' s disease . Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson ' s disease . While powerful antiparkinsonian effects had been observed as early as 1951 , the potential of treating fluctuating Parkinson ' s disease by subcutaneous a...	{ "entities": { "chemical_entity": [ { "text": "Apomorphine", "start": 0, "end": 11 }, { "text": "Apomorphine", "start": 67, "end": 78 }, { "text": "dopaminergic drug", "start": 93, "end": 110 }, { ...	[]
Rab6c , a new member of the rab gene family , is involved in drug resistance in MCF7 / AdrR cells . A new Rab6 homolog cDNA , Rab6c , was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant ( MDR ) breast cancer cell line , MCF7 / AdrR , by the methylation sensitive - r...	{ "entities": { "gene_or_gene_product": [ { "text": "Rab6c", "start": 0, "end": 5 }, { "text": "rab", "start": 28, "end": 31 }, { "text": "Rab6", "start": 106, "end": 110 }, { "text": "Rab6c",...	[]
End - stage renal disease ( ESRD ) after orthotopic liver transplantation ( OLTX ) using calcineurin - based immunotherapy : risk of development and treatment . BACKGROUND : The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic . Their use in orthotopic liver transplantation ( OLTX ) h...	{ "entities": { "disease_or_phenotypic_feature": [ { "text": "End - stage renal disease", "start": 0, "end": 25 }, { "text": "ESRD", "start": 28, "end": 32 }, { "text": "nephrotoxic", "start": 250, "end": 261 ...	[]
D90A - SOD1 mediated amyotrophic lateral sclerosis : a single founder for all cases with evidence for a Cis - acting disease modifier in the recessive haplotype . More than 100 different heterozygous mutations in copper / zinc superoxide dismutase ( SOD1 ) have been found in patients with amyotrophic lateral sclerosis ...	{ "entities": { "sequence_variant": [ { "text": "D90A", "start": 0, "end": 4 }, { "text": "D90A", "start": 377, "end": 381 }, { "text": "D90A", "start": 606, "end": 610 }, { "text": "D90A", ...	[]
Late - onset metachromatic leukodystrophy : molecular pathology in two siblings . We report on a new allele at the arylsulfatase A ( ARSA ) locus causing late - onset metachromatic leukodystrophy ( MLD ) . In that allele arginine84 , a residue that is highly conserved in the arylsulfatase gene family , is replaced by g...	{ "entities": { "disease_or_phenotypic_feature": [ { "text": "metachromatic leukodystrophy", "start": 13, "end": 41 }, { "text": "metachromatic leukodystrophy", "start": 167, "end": 195 }, { "text": "MLD", "start": 198, ...	[]
Low frequency of deafness - associated GJB2 variants in Kenya and Sudan and novel GJB2 variants . A large proportion of non - syndromic autosomal recessive deafness ( NSARD ) in many populations is caused by variants of the GJB2 gene . Here , the frequency of GJB2 variants was studied in 406 and 183 apparently unrelate...	{ "entities": { "disease_or_phenotypic_feature": [ { "text": "deafness", "start": 17, "end": 25 }, { "text": "non - syndromic autosomal recessive deafness", "start": 120, "end": 164 }, { "text": "NSARD", "start": 167, ...	[]
Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia . Proprotein convertase subtilisin / kexin type 9 ( PCSK9 ) is at a locus for autosomal dominant hypercholesterolemia , and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis . Mutations within t...	{ "entities": { "gene_or_gene_product": [ { "text": "PCSK9", "start": 17, "end": 22 }, { "text": "Proprotein convertase subtilisin / kexin type 9", "start": 97, "end": 144 }, { "text": "PCSK9", "start": 147, "end...	[]
Desmin - related myopathy with Mallory body - like inclusions is caused by mutations of the selenoprotein N gene . Desmin - related myopathies ( DRMs ) are a heterogeneous group of muscle disorders , morphologically defined by intrasarcoplasmic aggregates of desmin . Mutations in the desmin and the alpha - B crystallin...	{ "entities": { "disease_or_phenotypic_feature": [ { "text": "Desmin - related myopathy", "start": 0, "end": 25 }, { "text": "Desmin - related myopathies", "start": 115, "end": 142 }, { "text": "DRMs", "start": 145, ...	[]
Altered replication timing of the HIRA / Tuple1 locus in the DiGeorge and Velocardiofacial syndromes . DiGeorge and Velocardiofacial syndromes ( DGS / VCFS ) are endowed by a similar complex phenotype including cardiovascular , craniofacial , and thymic malformations , and are associated with heterozygous deletions of ...	{ "entities": { "gene_or_gene_product": [ { "text": "HIRA", "start": 34, "end": 38 }, { "text": "Tuple1", "start": 41, "end": 47 }, { "text": "HIRA", "start": 699, "end": 703 }, { "text": "Tup...	[]
Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose . Catecholamine - induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon . In contrast , reports of myocardial dysfunction d...	{ "entities": { "disease_or_phenotypic_feature": [ { "text": "left ventricular systolic and diastolic dysfunction", "start": 18, "end": 69 }, { "text": "cardiomyopathy", "start": 146, "end": 160 }, { "text": "myocardial dysfunct...	[]
Effects of the cyclooxygenase - 2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis . There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase ( COX ) - 2 - specific inh...	{ "entities": { "gene_or_gene_product": [ { "text": "cyclooxygenase - 2", "start": 15, "end": 33 }, { "text": "cyclooxygenase ( COX ) - 2", "start": 279, "end": 305 }, { "text": "COX - 2", "start": 457, "end": 46...	[]
Identification of a novel WFS1 mutation ( AFF344 - 345ins ) in Japanese patients with Wolfram syndrome . Wolfram syndrome ( WFS ) is an autosomal recessive disorder characterized by early onset diabetes mellitus , progressive optic atrophy , sensorineural deafness and diabetes insipidus . Affected individuals may also ...	{ "entities": { "gene_or_gene_product": [ { "text": "WFS1", "start": 26, "end": 30 }, { "text": "WFS1", "start": 401, "end": 405 }, { "text": "WFS1", "start": 573, "end": 577 } ], "sequence_variant"...	[]
A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach . Migraine is a common debilitating primary headache disorder with significant mental , physical and social health implications . The brain neurotransmitter 5 - hydroxytryptamine ( 5 - HT ; serotonin ) is invo...	{ "entities": { "disease_or_phenotypic_feature": [ { "text": "migraine", "start": 73, "end": 81 }, { "text": "Migraine", "start": 113, "end": 121 }, { "text": "headache disorder", "start": 155, "end": 172 }...	[]

Hepatocyte nuclear factor - 6 : associations between genetic variability and type II diabetes and between genetic variability and estimates of insulin secretion . The transcription factor hepatocyte nuclear factor ( HNF ) - 6 is an upstream regulator of several genes involved in the pathogenesis of maturity - onset dia...

{ "entities": { "gene_or_gene_product": [ { "text": "Hepatocyte nuclear factor - 6", "start": 0, "end": 29 }, { "text": "insulin", "start": 143, "end": 150 }, { "text": "hepatocyte nuclear factor ( HNF ) - 6", "start": 1...

[]

Langerin , a novel C - type lectin specific to Langerhans cells , is an endocytic receptor that induces the formation of Birbeck granules . We have identified a type II Ca2 + - dependent lectin displaying mannose - binding specificity , exclusively expressed by Langerhans cells ( LC ) , and named Langerin . LC are uniq...

{ "entities": { "gene_or_gene_product": [ { "text": "Langerin", "start": 0, "end": 8 }, { "text": "C - type lectin", "start": 19, "end": 34 }, { "text": "type II Ca2 + - dependent lectin", "start": 161, "end": 19...

[]

Founder mutations in the BRCA1 gene in Polish families with breast - ovarian cancer . We have undertaken a hospital - based study , to identify possible BRCA1 and BRCA2 founder mutations in the Polish population . The study group consisted of 66 Polish families with cancer who have at least three related females affect...

{ "entities": { "gene_or_gene_product": [ { "text": "BRCA1", "start": 25, "end": 30 }, { "text": "BRCA1", "start": 153, "end": 158 }, { "text": "BRCA2", "start": 163, "end": 168 }, { "text": "...

[]

Apomorphine : an underutilized therapy for Parkinson ' s disease . Apomorphine was the first dopaminergic drug ever used to treat symptoms of Parkinson ' s disease . While powerful antiparkinsonian effects had been observed as early as 1951 , the potential of treating fluctuating Parkinson ' s disease by subcutaneous a...

{ "entities": { "chemical_entity": [ { "text": "Apomorphine", "start": 0, "end": 11 }, { "text": "Apomorphine", "start": 67, "end": 78 }, { "text": "dopaminergic drug", "start": 93, "end": 110 }, { ...

[]

Rab6c , a new member of the rab gene family , is involved in drug resistance in MCF7 / AdrR cells . A new Rab6 homolog cDNA , Rab6c , was discovered by a hypermethylated DNA fragment probe that was isolated from a human multidrug resistant ( MDR ) breast cancer cell line , MCF7 / AdrR , by the methylation sensitive - r...

{ "entities": { "gene_or_gene_product": [ { "text": "Rab6c", "start": 0, "end": 5 }, { "text": "rab", "start": 28, "end": 31 }, { "text": "Rab6", "start": 106, "end": 110 }, { "text": "Rab6c",...

[]

End - stage renal disease ( ESRD ) after orthotopic liver transplantation ( OLTX ) using calcineurin - based immunotherapy : risk of development and treatment . BACKGROUND : The calcineurin inhibitors cyclosporine and tacrolimus are both known to be nephrotoxic . Their use in orthotopic liver transplantation ( OLTX ) h...

{ "entities": { "disease_or_phenotypic_feature": [ { "text": "End - stage renal disease", "start": 0, "end": 25 }, { "text": "ESRD", "start": 28, "end": 32 }, { "text": "nephrotoxic", "start": 250, "end": 261 ...

[]

D90A - SOD1 mediated amyotrophic lateral sclerosis : a single founder for all cases with evidence for a Cis - acting disease modifier in the recessive haplotype . More than 100 different heterozygous mutations in copper / zinc superoxide dismutase ( SOD1 ) have been found in patients with amyotrophic lateral sclerosis ...

{ "entities": { "sequence_variant": [ { "text": "D90A", "start": 0, "end": 4 }, { "text": "D90A", "start": 377, "end": 381 }, { "text": "D90A", "start": 606, "end": 610 }, { "text": "D90A", ...

[]

Late - onset metachromatic leukodystrophy : molecular pathology in two siblings . We report on a new allele at the arylsulfatase A ( ARSA ) locus causing late - onset metachromatic leukodystrophy ( MLD ) . In that allele arginine84 , a residue that is highly conserved in the arylsulfatase gene family , is replaced by g...

{ "entities": { "disease_or_phenotypic_feature": [ { "text": "metachromatic leukodystrophy", "start": 13, "end": 41 }, { "text": "metachromatic leukodystrophy", "start": 167, "end": 195 }, { "text": "MLD", "start": 198, ...

[]

Low frequency of deafness - associated GJB2 variants in Kenya and Sudan and novel GJB2 variants . A large proportion of non - syndromic autosomal recessive deafness ( NSARD ) in many populations is caused by variants of the GJB2 gene . Here , the frequency of GJB2 variants was studied in 406 and 183 apparently unrelate...

{ "entities": { "disease_or_phenotypic_feature": [ { "text": "deafness", "start": 17, "end": 25 }, { "text": "non - syndromic autosomal recessive deafness", "start": 120, "end": 164 }, { "text": "NSARD", "start": 167, ...

[]

Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia . Proprotein convertase subtilisin / kexin type 9 ( PCSK9 ) is at a locus for autosomal dominant hypercholesterolemia , and recent data indicate that the PCSK9 gene is involved in cholesterol biosynthesis . Mutations within t...

{ "entities": { "gene_or_gene_product": [ { "text": "PCSK9", "start": 17, "end": 22 }, { "text": "Proprotein convertase subtilisin / kexin type 9", "start": 97, "end": 144 }, { "text": "PCSK9", "start": 147, "end...

[]

Desmin - related myopathy with Mallory body - like inclusions is caused by mutations of the selenoprotein N gene . Desmin - related myopathies ( DRMs ) are a heterogeneous group of muscle disorders , morphologically defined by intrasarcoplasmic aggregates of desmin . Mutations in the desmin and the alpha - B crystallin...

{ "entities": { "disease_or_phenotypic_feature": [ { "text": "Desmin - related myopathy", "start": 0, "end": 25 }, { "text": "Desmin - related myopathies", "start": 115, "end": 142 }, { "text": "DRMs", "start": 145, ...

[]

Altered replication timing of the HIRA / Tuple1 locus in the DiGeorge and Velocardiofacial syndromes . DiGeorge and Velocardiofacial syndromes ( DGS / VCFS ) are endowed by a similar complex phenotype including cardiovascular , craniofacial , and thymic malformations , and are associated with heterozygous deletions of ...

{ "entities": { "gene_or_gene_product": [ { "text": "HIRA", "start": 34, "end": 38 }, { "text": "Tuple1", "start": 41, "end": 47 }, { "text": "HIRA", "start": 699, "end": 703 }, { "text": "Tup...

[]

Severe reversible left ventricular systolic and diastolic dysfunction due to accidental iatrogenic epinephrine overdose . Catecholamine - induced cardiomyopathy due to chronic excess of endogenous catecholamines has been recognized for decades as a clinical phenomenon . In contrast , reports of myocardial dysfunction d...

{ "entities": { "disease_or_phenotypic_feature": [ { "text": "left ventricular systolic and diastolic dysfunction", "start": 18, "end": 69 }, { "text": "cardiomyopathy", "start": 146, "end": 160 }, { "text": "myocardial dysfunct...

[]

Effects of the cyclooxygenase - 2 specific inhibitor valdecoxib versus nonsteroidal antiinflammatory agents and placebo on cardiovascular thrombotic events in patients with arthritis . There have been concerns that the risk of cardiovascular thrombotic events may be higher with cyclooxygenase ( COX ) - 2 - specific inh...

{ "entities": { "gene_or_gene_product": [ { "text": "cyclooxygenase - 2", "start": 15, "end": 33 }, { "text": "cyclooxygenase ( COX ) - 2", "start": 279, "end": 305 }, { "text": "COX - 2", "start": 457, "end": 46...

[]

Identification of a novel WFS1 mutation ( AFF344 - 345ins ) in Japanese patients with Wolfram syndrome . Wolfram syndrome ( WFS ) is an autosomal recessive disorder characterized by early onset diabetes mellitus , progressive optic atrophy , sensorineural deafness and diabetes insipidus . Affected individuals may also ...

{ "entities": { "gene_or_gene_product": [ { "text": "WFS1", "start": 26, "end": 30 }, { "text": "WFS1", "start": 401, "end": 405 }, { "text": "WFS1", "start": 573, "end": 577 } ], "sequence_variant"...

[]

A genetic analysis of serotonergic biosynthetic and metabolic enzymes in migraine using a DNA pooling approach . Migraine is a common debilitating primary headache disorder with significant mental , physical and social health implications . The brain neurotransmitter 5 - hydroxytryptamine ( 5 - HT ; serotonin ) is invo...

{ "entities": { "disease_or_phenotypic_feature": [ { "text": "migraine", "start": 73, "end": 81 }, { "text": "Migraine", "start": 113, "end": 121 }, { "text": "headache disorder", "start": 155, "end": 172 }...

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