input stringlengths 359 3.42k | output dict | schema listlengths 0 0 |
|---|---|---|
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
}... | [] |
5 - Fluorouracil cardiotoxicity induced by alpha - fluoro - beta - alanine . Cardiotoxicity is a rare complication occurring during 5 - fluorouracil ( 5 - FU ) treatment for malignancies . We herein report the case of a 70 - year - old man with 5 - FU - induced cardiotoxicity , in whom a high serum level of alpha - flu... | {
"entities": {
"chemical_entity": [
{
"text": "5 - Fluorouracil",
"start": 0,
"end": 16
},
{
"text": "alpha - fluoro - beta - alanine",
"start": 43,
"end": 74
},
{
"text": "5 - fluorouracil",
"start": 132,
"end"... | [] |
Pilocarpine seizures cause age - dependent impairment in auditory location discrimination . Children who have status epilepticus have continuous or rapidly repeating seizures that may be life - threatening and may cause life - long changes in brain and behavior . The extent to which status epilepticus causes deficits i... | {
"entities": {
"chemical_entity": [
{
"text": "Pilocarpine",
"start": 0,
"end": 11
},
{
"text": "pilocarpine",
"start": 600,
"end": 611
},
{
"text": "Pilocarpine",
"start": 628,
"end": 639
}
],
"di... | [] |
No independent role of the - 1123 G > C and + 2740 A > G variants in the association of PTPN22 with type 1 diabetes and juvenile idiopathic arthritis in two Caucasian populations . INTRODUCTION : The PTPN22 is a negative regulator of the T cell response . Its + 1858C > T ( R620W ) polymorphism has been shown to associa... | {
"entities": {
"sequence_variant": [
{
"text": "- 1123 G > C",
"start": 27,
"end": 39
},
{
"text": "+ 2740 A > G",
"start": 44,
"end": 56
},
{
"text": "+ 1858C > T",
"start": 260,
"end": 271
},
{
... | [] |
A polymorphism of C - to - T substitution at - 31 IL1B is associated with the risk of advanced gastric adenocarcinoma in a Japanese population . Proinflammatory cytokine gene polymorphisms have been demonstrated to associate with gastric cancer risk , of which IL1B - 31T / C and - 511C / T changes have been well invest... | {
"entities": {
"sequence_variant": [
{
"text": "C - to - T substitution at - 31",
"start": 18,
"end": 49
},
{
"text": "- 31T / C",
"start": 266,
"end": 275
},
{
"text": "- 511C / T",
"start": 280,
"end": 290
... | [] |
Chloroacetaldehyde as a sulfhydryl reagent : the role of critical thiol groups in ifosfamide nephropathy . Chloroacetaldehyde ( CAA ) is a metabolite of the alkylating agent ifosfamide ( IFO ) and putatively responsible for renal damage following anti - tumor therapy with IFO . Depletion of sulfhydryl ( SH ) groups has... | {
"entities": {
"chemical_entity": [
{
"text": "Chloroacetaldehyde",
"start": 0,
"end": 18
},
{
"text": "sulfhydryl reagent",
"start": 24,
"end": 42
},
{
"text": "thiol",
"start": 66,
"end": 71
},
{
... | [] |
Delayed institution of hypertension during focal cerebral ischemia : effect on brain edema . The effect of induced hypertension instituted after a 2 - h delay following middle cerebral artery occlusion ( MCAO ) on brain edema formation and histochemical injury was studied . Under isoflurane anesthesia , the MCA of 14 s... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "hypertension",
"start": 23,
"end": 35
},
{
"text": "cerebral ischemia",
"start": 49,
"end": 66
},
{
"text": "brain edema",
"start": 79,
"end": 90
... | [] |
The phosphatidylethanolamine N - methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population . BACKGROUND / AIMS : The genetic predisposition on the development of nonalcoholic steatohepatitis ( NASH ) has been poorly understood . A functional polymorphism Val17... | {
"entities": {
"gene_or_gene_product": [
{
"text": "phosphatidylethanolamine N - methyltransferase",
"start": 4,
"end": 50
},
{
"text": "phosphatidylethanolamine N - methyltransferase",
"start": 341,
"end": 387
},
{
"text": "PE... | [] |
Tenomodulin is associated with obesity and diabetes risk : the Finnish diabetes prevention study . We recently showed that long - term weight reduction changes the gene expression profile of adipose tissue in overweight individuals with impaired glucose tolerance ( IGT ) . One of the responding genes was X - chromosoma... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Tenomodulin",
"start": 0,
"end": 11
},
{
"text": "tenomodulin",
"start": 322,
"end": 333
},
{
"text": "TNMD",
"start": 336,
"end": 340
},
{
... | [] |
Mutations in pattern recognition receptor genes modulate seroreactivity to microbial antigens in patients with inflammatory bowel disease . BACKGROUND AND AIMS : A number of antibodies against microbial epitopes or self - antigens have been associated with Crohn ' s disease . The development of antibodies reflects a lo... | {
"entities": {
"organism_taxon": [
{
"text": "patients",
"start": 97,
"end": 105
},
{
"text": "bacteria",
"start": 350,
"end": 358
},
{
"text": "bacteria",
"start": 456,
"end": 464
},
{
"text... | [] |
An improved tetra - primer PCR approach for the detection of the FGFR3 G380R mutation responsible for achondroplasia . Achondroplasia is the most common form of dwarfism and has an incidence of approximately 1 / 7500 . In more than 98 % of cases , the disease is associated with a G to A or G to C substitution at nucleo... | {
"entities": {
"gene_or_gene_product": [
{
"text": "FGFR3",
"start": 65,
"end": 70
},
{
"text": "fibroblast growth factor receptor 3",
"start": 360,
"end": 395
},
{
"text": "FGFR3",
"start": 398,
"end": 403
... | [] |
Genetic investigation of four meiotic genes in women with premature ovarian failure . OBJECTIVE : The goal of this study was to determine whether mutations of meiotic genes , such as disrupted meiotic cDNA ( DMC1 ) , MutS homolog ( MSH4 ) , MSH5 , and S . cerevisiae homolog ( SPO11 ) , were associated with premature ov... | {
"entities": {
"organism_taxon": [
{
"text": "women",
"start": 47,
"end": 52
},
{
"text": "S . cerevisiae",
"start": 252,
"end": 266
},
{
"text": "patients",
"start": 490,
"end": 498
},
{
"te... | [] |
A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population . OBJECTIVES : Interferon regulatory factor 5 ( IRF5 ) is a member of the IRF family of transcription factors , which regulate the production of proinflammatory cytokines . P... | {
"entities": {
"gene_or_gene_product": [
{
"text": "IRF5",
"start": 40,
"end": 44
},
{
"text": "Interferon regulatory factor 5",
"start": 161,
"end": 191
},
{
"text": "IRF5",
"start": 194,
"end": 198
},
... | [] |
Association between promoter - 1607 polymorphism of MMP1 and lumbar disc disease in Southern Chinese . BACKGROUND : Matrix metalloproteinases ( MMPs ) are involved in the degradation of the extracellular matrix of the intervertebral disc . A SNP for guanine insertion / deletion ( G / D ) , the - 1607 promoter polymorph... | {
"entities": {
"gene_or_gene_product": [
{
"text": "MMP1",
"start": 52,
"end": 56
},
{
"text": "Matrix metalloproteinases",
"start": 116,
"end": 141
},
{
"text": "MMPs",
"start": 144,
"end": 148
},
{... | [] |
Detailed spectral profile analysis of penicillin - induced epileptiform activity in anesthetized rats . Penicillin model is a widely used experimental model for epilepsy research . In the present study we aimed to portray a detailed spectral analysis of penicillin - induced epileptiform activity in comparison with basa... | {
"entities": {
"chemical_entity": [
{
"text": "penicillin",
"start": 38,
"end": 48
},
{
"text": "Penicillin",
"start": 104,
"end": 114
},
{
"text": "penicillin",
"start": 254,
"end": 264
},
{
... | [] |
Expanding clinical spectrum of non - autoimmune hyperthyroidism due to an activating germline mutation , p . M453T , in the thyrotropin receptor gene . OBJECTIVE : To describe clinical and genetic features of a Thai family with non - autoimmune hyperthyroidism ( NAH ) caused by an activating germline mutation in the th... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "non - autoimmune hyperthyroidism",
"start": 31,
"end": 63
},
{
"text": "non - autoimmune hyperthyroidism",
"start": 228,
"end": 260
},
{
"text": "NAH",
"start... | [] |
Hemodynamic parameters and heart rate variability during a tilt test in relation to gene polymorphism of renin - angiotensin and serotonin system . PURPOSE : The aim of the study was to evaluate the renin - angiotensin system and serotonin transporter gene polymorphisms in relation to hemodynamic parameters and heart r... | {
"entities": {
"gene_or_gene_product": [
{
"text": "renin",
"start": 105,
"end": 110
},
{
"text": "angiotensin",
"start": 113,
"end": 124
},
{
"text": "renin",
"start": 199,
"end": 204
},
{
"... | [] |
Hypomorphic mutations in meckelin ( MKS3 / TMEM67 ) cause nephronophthisis with liver fibrosis ( NPHP11 ) . BACKGROUND : Nephronophthisis ( NPHP ) , a rare recessive cystic kidney disease , is the most frequent genetic cause of chronic renal failure in children and young adults . Mutations in nine genes ( NPHP1 - 9 ) h... | {
"entities": {
"gene_or_gene_product": [
{
"text": "meckelin",
"start": 25,
"end": 33
},
{
"text": "MKS3",
"start": 36,
"end": 40
},
{
"text": "TMEM67",
"start": 43,
"end": 49
},
{
"text": "N... | [] |
Serotonin transporter gene polymorphic element 5 - HTTLPR increases the risk of sporadic Parkinson ' s disease in Italy . Parkinson ' s disease ( PD ) is a neurodegenerative disorder causing muscular rigidity , resting tremor and bradykinesia . We conducted an association study assessing how PD risk in Italy was influe... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Serotonin transporter",
"start": 0,
"end": 21
},
{
"text": "5 - HTTLPR",
"start": 47,
"end": 57
},
{
"text": "serotonin transporter",
"start": 332,
"end": 353
... | [] |
Prolonged hypothermia as a bridge to recovery for cerebral edema and intracranial hypertension associated with fulminant hepatic failure . BACKGROUND : To review evidence - based treatment options in patients with cerebral edema complicating fulminant hepatic failure ( FHF ) and discuss the potential applications of hy... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "hypothermia",
"start": 10,
"end": 21
},
{
"text": "cerebral edema",
"start": 50,
"end": 64
},
{
"text": "intracranial hypertension",
"start": 69,
"end... | [] |
hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type . Human 8 - oxoguanine DNA glycosylase 1 ( hOGG1 ) has a major role in the repair of 8 - hydroxyguanine , a major promutagenic DNA lesion . The genetic polymorphism rs1052133 , which leads to substitution of the amino acid at codon 326 from Ser t... | {
"entities": {
"gene_or_gene_product": [
{
"text": "hOGG1",
"start": 0,
"end": 5
},
{
"text": "8 - oxoguanine DNA glycosylase 1",
"start": 82,
"end": 114
},
{
"text": "hOGG1",
"start": 117,
"end": 122
},
... | [] |
A potential regulatory single nucleotide polymorphism in the promoter of the Klotho gene may be associated with essential hypertension in the Chinese Han population . BACKGROUND : Mice with defects in the Klotho gene exhibit multiple aging phenotypes including arteriosclerosis . We hypothesised that the G - 395A polymo... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Klotho",
"start": 77,
"end": 83
},
{
"text": "Klotho",
"start": 205,
"end": 211
},
{
"text": "Klotho",
"start": 363,
"end": 369
},
{
"text"... | [] |
Chemokine CCL2 and its receptor CCR2 are increased in the hippocampus following pilocarpine - induced status epilepticus . BACKGROUND : Neuroinflammation occurs after seizures and is implicated in epileptogenesis . CCR2 is a chemokine receptor for CCL2 and their interaction mediates monocyte infiltration in the neuroin... | {
"entities": {
"gene_or_gene_product": [
{
"text": "CCL2",
"start": 10,
"end": 14
},
{
"text": "CCR2",
"start": 32,
"end": 36
},
{
"text": "CCR2",
"start": 215,
"end": 219
},
{
"text": "chemo... | [] |
Association of adipocyte genes with ASP expression : a microarray analysis of subcutaneous and omental adipose tissue in morbidly obese subjects . BACKGROUND : Prevalence of obesity is increasing to pandemic proportions . However , obese subjects differ in insulin resistance , adipokine production and co - morbidities ... | {
"entities": {
"gene_or_gene_product": [
{
"text": "ASP",
"start": 36,
"end": 39
},
{
"text": "adipokine",
"start": 278,
"end": 287
},
{
"text": "Acylation Stimulating protein",
"start": 392,
"end": 421
},... | [] |
Atypical GH insensitivity syndrome and severe insulin - like growth factor - I deficiency resulting from compound heterozygous mutations of the GH receptor , including a novel frameshift mutation affecting the intracellular domain . BACKGROUND / AIMS : GH insensitivity and IGF deficiency may result from aberrations of ... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "GH insensitivity syndrome",
"start": 9,
"end": 34
},
{
"text": "insulin - like growth factor - I deficiency",
"start": 46,
"end": 89
},
{
"text": "GH insensitivity",
... | [] |
Association of DNA polymorphisms within the CYP11B2 / CYP11B1 locus and postoperative hypertension risk in the patients with aldosterone - producing adenomas . OBJECTIVES : Hypertension often persists after adrenalectomy for primary aldosteronism . Traditional factors associated with postoperative hypertension were eva... | {
"entities": {
"gene_or_gene_product": [
{
"text": "CYP11B2",
"start": 44,
"end": 51
},
{
"text": "CYP11B1",
"start": 54,
"end": 61
},
{
"text": "steroid synthesis genes",
"start": 489,
"end": 512
},
... | [] |
A novel mutation in GJA8 causing congenital cataract - microcornea syndrome in a Chinese pedigree . PURPOSE : To identify the underlying genetic defect in a four - generation family of Chinese origin with autosomal dominant congenital cataract - microcornea syndrome ( CCMC ) . METHODS : All individuals in the study und... | {
"entities": {
"gene_or_gene_product": [
{
"text": "GJA8",
"start": 20,
"end": 24
},
{
"text": "gap junction protein , alpha 8",
"start": 697,
"end": 727
},
{
"text": "GJA8",
"start": 730,
"end": 734
},
... | [] |
The M235T polymorphism of the angiotensinogen gene in South Indian patients of hypertrophic cardiomyopathy . INTRODUCTION : Hypertrophic cardiomyopathy ( HCM ) is a complex disorder and genetically transmitted cardiac disease with a diverse clinical course . The objective of the present study was to examine the associa... | {
"entities": {
"sequence_variant": [
{
"text": "M235T",
"start": 4,
"end": 9
},
{
"text": "T704C",
"start": 332,
"end": 337
},
{
"text": "methionine to threonine substitution at codon 235",
"start": 883,
"end": ... | [] |
Interleukin - 17F gene polymorphism in patients with chronic immune thrombocytopenia . INTRODUCTION : IL - 17F is a novel inflammatory cytokine and plays an important role in some autoimmune diseases . We investigated the association between chronic ITP and the frequency of the single - nucleotide polymorphism rs763780... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Interleukin - 17F",
"start": 0,
"end": 17
},
{
"text": "IL - 17F",
"start": 102,
"end": 110
},
{
"text": "inflammatory cytokine",
"start": 122,
"end": 143
... | [] |
XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population . It has been shown that DNA repair is reduced in patients with systemic lupus erythematosus ( SLE ) and that the X - ray repair cross - complementing ( XRCC1 ) Arg399Gln ( rs25487 ) polymorphism may contribute to DN... | {
"entities": {
"gene_or_gene_product": [
{
"text": "XRCC1",
"start": 0,
"end": 5
},
{
"text": "X - ray repair cross - complementing",
"start": 218,
"end": 254
},
{
"text": "XRCC1",
"start": 257,
"end": 262
... | [] |
Defining an EPOR - regulated transcriptome for primary progenitors , including Tnfr - sf13c as a novel mediator of EPO - dependent erythroblast formation . Certain concepts concerning EPO / EPOR action modes have been challenged by in vivo studies : Bcl - x levels are elevated in maturing erythroblasts , but not in the... | {
"entities": {
"gene_or_gene_product": [
{
"text": "EPOR",
"start": 12,
"end": 16
},
{
"text": "Tnfr - sf13c",
"start": 79,
"end": 91
},
{
"text": "EPO",
"start": 115,
"end": 118
},
{
"text":... | [] |
Association of common genetic variants of HOMER1 gene with levodopa adverse effects in Parkinson ' s disease patients . Levodopa is the most effective symptomatic therapy for Parkinson ' s disease , but its chronic use could lead to chronic adverse outcomes , such as motor fluctuations , dyskinesia and visual hallucina... | {
"entities": {
"gene_or_gene_product": [
{
"text": "HOMER1",
"start": 42,
"end": 48
},
{
"text": "HOMER1",
"start": 328,
"end": 334
},
{
"text": "HOMER1",
"start": 519,
"end": 525
},
{
"text"... | [] |
Midline B3 serotonin nerves in rat medulla are involved in hypotensive effect of methyldopa . Previous experiments in this laboratory have shown that microinjection of methyldopa onto the ventrolateral cells of the B3 serotonin neurons in the medulla elicits a hypotensive response mediated by a projection descending in... | {
"entities": {
"chemical_entity": [
{
"text": "serotonin",
"start": 11,
"end": 20
},
{
"text": "methyldopa",
"start": 81,
"end": 91
},
{
"text": "methyldopa",
"start": 168,
"end": 178
},
{
"t... | [] |
Endothelial NADPH oxidase 4 mediates vascular endothelial growth factor receptor 2 - induced intravitreal neovascularization in a rat model of retinopathy of prematurity . PURPOSE : NADPH oxidase - generated reactive oxygen species ( ROS ) are implicated in angiogenesis . Isoforms of NADPH oxidase NOX1 , NOX2 , and NOX... | {
"entities": {
"gene_or_gene_product": [
{
"text": "NADPH oxidase 4",
"start": 12,
"end": 27
},
{
"text": "vascular endothelial growth factor receptor 2",
"start": 37,
"end": 82
},
{
"text": "NADPH oxidase",
"start": 18... | [] |
Disruption of the temporally regulated cloaca endodermal b - catenin signaling causes anorectal malformations . The cloaca is temporally formed and eventually divided by the urorectal septum ( URS ) during urogenital and anorectal organ development . Although congenital malformations , such as anorectal malformations (... | {
"entities": {
"gene_or_gene_product": [
{
"text": "b - catenin",
"start": 57,
"end": 68
},
{
"text": "b - Catenin",
"start": 430,
"end": 441
},
{
"text": "Wnt",
"start": 479,
"end": 482
},
{
... | [] |
Behavioral and neurochemical studies in mice pretreated with garcinielliptone FC in pilocarpine - induced seizures . Garcinielliptone FC ( GFC ) isolated from hexanic fraction seed extract of species Platonia insignis Mart . It is widely used in folk medicine to treat skin diseases in both humans and animals as well as... | {
"entities": {
"organism_taxon": [
{
"text": "mice",
"start": 40,
"end": 44
},
{
"text": "Platonia insignis Mart",
"start": 200,
"end": 222
},
{
"text": "humans",
"start": 291,
"end": 297
},
{
... | [] |
Conversion to sirolimus ameliorates cyclosporine - induced nephropathy in the rat : focus on serum , urine , gene , and protein renal expression biomarkers . Protocols of conversion from cyclosporin A ( CsA ) to sirolimus ( SRL ) have been widely used in immunotherapy after transplantation to prevent CsA - induced neph... | {
"entities": {
"chemical_entity": [
{
"text": "sirolimus",
"start": 14,
"end": 23
},
{
"text": "cyclosporine",
"start": 36,
"end": 48
},
{
"text": "cyclosporin A",
"start": 187,
"end": 200
},
{
... | [] |
Characterization of a novel BCHE " silent " allele : point mutation ( p . Val204Asp ) causes loss of activity and prolonged apnea with suxamethonium . Butyrylcholinesterase deficiency is characterized by prolonged apnea after the use of muscle relaxants ( suxamethonium or mivacurium ) in patients who have mutations in ... | {
"entities": {
"gene_or_gene_product": [
{
"text": "BCHE",
"start": 28,
"end": 32
},
{
"text": "BCHE",
"start": 324,
"end": 328
},
{
"text": "BCHE",
"start": 467,
"end": 471
},
{
"text": "but... | [] |
Inhibition of LDHA suppresses tumor progression in prostate cancer . A key hallmark of cancer cells is their altered metabolism , known as Warburg effect . Lactate dehydrogenase A ( LDHA ) executes the final step of aerobic glycolysis and has been reported to be involved in the tumor progression . However , the functio... | {
"entities": {
"gene_or_gene_product": [
{
"text": "LDHA",
"start": 14,
"end": 18
},
{
"text": "Lactate dehydrogenase A",
"start": 156,
"end": 179
},
{
"text": "LDHA",
"start": 182,
"end": 186
},
{
... | [] |
Erythropoietin does not activate erythropoietin receptor signaling or lipolytic pathways in human subcutaneous white adipose tissue in vivo . BACKGROUND : Erythropoietin ( Epo ) exerts direct effects on white adipose tissue ( WAT ) in mice in addition to its erythropoietic effects , and in humans Epo increases resting ... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Erythropoietin",
"start": 0,
"end": 14
},
{
"text": "erythropoietin receptor",
"start": 33,
"end": 56
},
{
"text": "Erythropoietin",
"start": 155,
"end": 169
... | [] |
A Critical Role for the Type I Interferon Receptor in Virus - Induced Autoimmune Diabetes in Rats . The pathogenesis of human type 1 diabetes , characterized by immune - mediated damage of insulin - producing b - cells of pancreatic islets , may involve viral infection . Essential components of the innate immune antivi... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Type I Interferon Receptor",
"start": 24,
"end": 50
},
{
"text": "insulin",
"start": 189,
"end": 196
},
{
"text": "type I interferon",
"start": 345,
"end": 362... | [] |
Genetic Variation at the Sulfonylurea Receptor , Type 2 Diabetes , and Coronary Heart Disease . Despite widespread clinical use in the treatment of type 2 diabetes , the impact of sulfonylurea therapy on cardiovascular outcomes remains uncertain . Studies of naturally occurring genetic variation can be used to anticipa... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Sulfonylurea Receptor",
"start": 25,
"end": 46
},
{
"text": "sulfonylurea receptor",
"start": 455,
"end": 476
},
{
"text": "ABCC8",
"start": 479,
"end": 484
... | [] |
Regulation of lung endothelial permeability and inflammatory responses by prostaglandin A2 : role of EP4 receptor . The role of prostaglandin A2 ( PGA2 ) in modulation of vascular endothelial function is unknown . We investigated effects of PGA2 on pulmonary endothelial cell ( EC ) permeability and inflammatory activat... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "inflammatory",
"start": 48,
"end": 60
},
{
"text": "inflammatory",
"start": 300,
"end": 312
},
{
"text": "proinflammatory",
"start": 489,
"end": 504
... | [] |
Hypoglycemic Effect of Combined Ghrelin and Glucagon Receptor Blockade . Glucagon receptor ( GcgR ) blockade has been proposed as an alternative to insulin monotherapy for treating type 1 diabetes since deletion or inhibition of GcgRs corrects hyperglycemia in models of diabetes . The factors regulating glycemia in a s... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Ghrelin",
"start": 32,
"end": 39
},
{
"text": "Glucagon Receptor",
"start": 44,
"end": 61
},
{
"text": "Glucagon receptor",
"start": 73,
"end": 90
},
... | [] |
Gankyrin induces STAT3 activation in tumor microenvironment and sorafenib resistance in hepatocellular carcinoma . Most hepatocellular carcinomas ( HCC ) develop as a result of chronic liver inflammation . We have shown that the oncoprotein gankyrin is critical for inflammation - induced tumorigenesis in the colon . Al... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Gankyrin",
"start": 0,
"end": 8
},
{
"text": "STAT3",
"start": 17,
"end": 22
},
{
"text": "oncoprotein",
"start": 229,
"end": 240
},
{
"tex... | [] |
Pituitary response to luteinizing hormone - releasing hormone during haloperidol - induced hyperprolactinemia . The effects of a 6 - hour infusion with haloperidol on serum prolactin and luteinizing hormone ( LH ) levels was studied in a group of male subjects . Five hours after starting the infusions , a study of the ... | {
"entities": {
"gene_or_gene_product": [
{
"text": "luteinizing hormone - releasing hormone",
"start": 22,
"end": 61
},
{
"text": "prolactin",
"start": 173,
"end": 182
},
{
"text": "luteinizing hormone",
"start": 187,
... | [] |
Cardiovascular complications associated with terbutaline treatment for preterm labor . 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 ... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "Cardiovascular complications",
"start": 0,
"end": 28
},
{
"text": "preterm labor",
"start": 71,
"end": 84
},
{
"text": "cardiovascular complications",
"start"... | [] |
Cloning of human very - long - chain acyl - coenzyme A dehydrogenase and molecular characterization of its deficiency in two patients . 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 cl... | {
"entities": {
"organism_taxon": [
{
"text": "human",
"start": 11,
"end": 16
},
{
"text": "patients",
"start": 125,
"end": 133
},
{
"text": "human",
"start": 231,
"end": 236
},
{
"text": "pat... | [] |
Human mu opiate receptor . cDNA and genomic clones , pharmacologic characterization and chromosomal assignment . 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 ac... | {
"entities": {
"organism_taxon": [
{
"text": "Human",
"start": 0,
"end": 5
},
{
"text": "human",
"start": 115,
"end": 120
},
{
"text": "rat",
"start": 228,
"end": 231
},
{
"text": "human",
... | [] |
Adrenoleukodystrophy gene encodes an 80 kDa membrane protein . 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... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Adrenoleukodystrophy gene",
"start": 0,
"end": 25
},
{
"text": "ALD",
"start": 257,
"end": 260
},
{
"text": "ALD",
"start": 448,
"end": 451
},
{
... | [] |
Mutations associated with variant phenotypes in ataxia - telangiectasia . 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 Kingdo... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "ataxia - telangiectasia",
"start": 48,
"end": 71
},
{
"text": "ataxia - telangiectasia",
"start": 110,
"end": 133
},
{
"text": "A - T",
"start": 136,
... | [] |
Myotonic dystrophy protein kinase is involved in the modulation of the Ca2 + homeostasis in skeletal muscle cells . 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... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Myotonic dystrophy protein kinase",
"start": 0,
"end": 33
},
{
"text": "DM protein kinase",
"start": 273,
"end": 290
},
{
"text": "DMPK",
"start": 293,
"end": ... | [] |
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 . NADH : ubiquinone oxidoreductase ( complex I ) of the mitochondrial respiratory chain can be fragmented in a flavoprotein ( FP ) , iron - sulfu... | {
"entities": {
"organism_taxon": [
{
"text": "human",
"start": 66,
"end": 71
},
{
"text": "human",
"start": 144,
"end": 149
},
{
"text": "human",
"start": 556,
"end": 561
},
{
"text": "bovine... | [] |
Inappropriate use of carbamazepine and vigabatrin in typical absence seizures . 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 a... | {
"entities": {
"chemical_entity": [
{
"text": "carbamazepine",
"start": 21,
"end": 34
},
{
"text": "vigabatrin",
"start": 39,
"end": 49
},
{
"text": "Carbamazepine",
"start": 80,
"end": 93
},
{
... | [] |
CD72 polymorphisms associated with alternative splicing modify susceptibility to human systemic lupus erythematosus through epistatic interaction with FCGR2B . We previously reported association of FCGR2B - Ile232Thr with systemic lupus erythematosus ( SLE ) in three Asian populations . Because polymorphism of CD72 , a... | {
"entities": {
"gene_or_gene_product": [
{
"text": "CD72",
"start": 0,
"end": 4
},
{
"text": "FCGR2B",
"start": 151,
"end": 157
},
{
"text": "FCGR2B",
"start": 198,
"end": 204
},
{
"text": "C... | [] |
Polymorphic forms of prostate specific antigen and their interaction with androgen receptor trinucleotide repeats in prostate cancer . 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 ... | {
"entities": {
"gene_or_gene_product": [
{
"text": "prostate specific antigen",
"start": 21,
"end": 46
},
{
"text": "androgen receptor",
"start": 74,
"end": 91
},
{
"text": "prostate specific antigen",
"start": 200,
... | [] |
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 . Bernard - Soulier syndrome ( BSS ) is a rare inherited bleeding disorder due to quantitative or qualitative abnormalities in the platelet glycoprot... | {
"entities": {
"sequence_variant": [
{
"text": "Asn45Ser",
"start": 71,
"end": 79
},
{
"text": "nine - nucleotide deletion starting at position 1952",
"start": 920,
"end": 972
},
{
"text": "changes asparagine 86 for alanine and... | [] |
Genetic homogeneity for inherited congenital microcoria loci in an Asian Indian pedigree . 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 i... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "congenital microcoria",
"start": 34,
"end": 55
},
{
"text": "Congenital microcoria",
"start": 101,
"end": 122
},
{
"text": "autosomal dominant developmental disorder ... | [] |
A novel mutation ( E333D ) in the thyroid hormone beta receptor causing resistance to thyroid hormone syndrome . 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 vari... | {
"entities": {
"sequence_variant": [
{
"text": "E333D",
"start": 19,
"end": 24
},
{
"text": "E333D",
"start": 514,
"end": 519
},
{
"text": "1284A > C",
"start": 1177,
"end": 1186
},
{
"text":... | [] |
Common germline genetic variation in antioxidant defense genes and survival after diagnosis of breast cancer . 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 r... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "breast cancer",
"start": 95,
"end": 108
},
{
"text": "breast cancer",
"start": 138,
"end": 151
},
{
"text": "cancer",
"start": 433,
"end": 439
}... | [] |
Integrated genomic and expression profiling in mantle cell lymphoma : identification of gene - dosage regulated candidate genes . 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 ... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "mantle cell lymphoma",
"start": 47,
"end": 67
},
{
"text": "Mantle cell lymphoma",
"start": 130,
"end": 150
},
{
"text": "MCL",
"start": 153,
"end": 1... | [] |
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 . Caspase 8 ( CASP8 ) is an apoptosis - related cysteine peptidase involved in the death receptor pathway and likely in the mitochondrial pathway . A CASP8 pro... | {
"entities": {
"gene_or_gene_product": [
{
"text": "CASP8",
"start": 57,
"end": 62
},
{
"text": "Caspase 8",
"start": 163,
"end": 172
},
{
"text": "CASP8",
"start": 175,
"end": 180
},
{
"text... | [] |
Thyroid hormone receptor a mutation causes a severe and thyroxine - resistant skeletal dysplasia in female mice . A new genetic disorder has been identified that results from mutation of THRA , encoding thyroid hormone receptor a1 ( TRa1 ) . Affected children have a high serum T3 : T4 ratio and variable degrees of inte... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Thyroid hormone receptor a",
"start": 0,
"end": 26
},
{
"text": "THRA",
"start": 187,
"end": 191
},
{
"text": "thyroid hormone receptor a1",
"start": 203,
"end... | [] |
NF - kB functions as a molecular link between tumor cells and Th1 / Tc1 T cells in the tumor microenvironment to exert radiation - mediated tumor suppression . Radiation modulates both tumor cells and immune cells in the tumor microenvironment to exert its anti - tumor activity ; however , the molecular connection betw... | {
"entities": {
"gene_or_gene_product": [
{
"text": "NF - kB",
"start": 0,
"end": 7
},
{
"text": "p65",
"start": 527,
"end": 530
},
{
"text": "p50",
"start": 533,
"end": 536
},
{
"text": "p50"... | [] |
Bach1 siRNA attenuates bleomycin - induced pulmonary fibrosis by modulating oxidative stress in mice . Oxidative stress plays an essential role in inflammation and fibrosis . Bach1 is an important transcriptional repressor that acts by modulating oxidative stress and represents a potential target in the treatment of pu... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Bach1",
"start": 0,
"end": 5
},
{
"text": "Bach1",
"start": 175,
"end": 180
},
{
"text": "Bach1",
"start": 378,
"end": 383
},
{
"text": "Ba... | [] |
Tissue - Specific Ablation of the LIF Receptor in the Murine Uterine Epithelium Results in Implantation Failure . The cytokine leukemia inhibitory factor ( LIF ) is essential for rendering the uterus receptive for blastocyst implantation . In mice , LIF receptor expression ( LIFR ) is largely restricted to the uterine ... | {
"entities": {
"gene_or_gene_product": [
{
"text": "LIF Receptor",
"start": 34,
"end": 46
},
{
"text": "leukemia inhibitory factor",
"start": 127,
"end": 153
},
{
"text": "LIF",
"start": 156,
"end": 159
},... | [] |
Genome - wide loss - of - function genetic screening identifies opioid receptor u1 as a key regulator of L - asparaginase resistance in pediatric acute lymphoblastic leukemia . L - asparaginase is a critical chemotherapeutic agent for acute lymphoblastic leukemia ( ALL ) . It hydrolyzes plasma asparagine into aspartate... | {
"entities": {
"gene_or_gene_product": [
{
"text": "opioid receptor u1",
"start": 64,
"end": 82
},
{
"text": "opioid receptor mu 1",
"start": 826,
"end": 846
},
{
"text": "oprm1",
"start": 849,
"end": 854
... | [] |
Photochemoprevention of ultraviolet B signaling and photocarcinogenesis . Exposure to solar radiation , particularly its ultraviolet ( UV ) B component , has a variety of harmful effects on human health . Some of these effects include sunburn cell formation , basal and squamous cell cancers , melanoma , cataracts , pho... | {
"entities": {
"organism_taxon": [
{
"text": "human",
"start": 190,
"end": 195
},
{
"text": "human",
"start": 2148,
"end": 2153
},
{
"text": "human",
"start": 2235,
"end": 2240
},
{
"text": "... | [] |
A G1103R mutation in CRB1 is co - inherited with high hyperopia and Leber congenital amaurosis . PURPOSE : To identify the genetic basis of recessive inheritance of high hyperopia and Leber congenital amaurosis ( LCA ) in a family of Middle Eastern origin . MATERIALS AND METHODS : The patients were examined using stand... | {
"entities": {
"sequence_variant": [
{
"text": "G1103R",
"start": 2,
"end": 8
},
{
"text": "G1103R",
"start": 816,
"end": 822
}
],
"gene_or_gene_product": [
{
"text": "CRB1",
"start": 21,
"end": 25
... | [] |
MDMA polydrug users show process - specific central executive impairments coupled with impaired social and emotional judgement processes . In recent years working memory deficits have been reported in users of MDMA ( 3 , 4 - methylenedioxymethamphetamine , ecstasy ) . The current study aimed to assess the impact of MDM... | {
"entities": {
"chemical_entity": [
{
"text": "MDMA",
"start": 0,
"end": 4
},
{
"text": "MDMA",
"start": 210,
"end": 214
},
{
"text": "3 , 4 - methylenedioxymethamphetamine",
"start": 217,
"end": 254
},
... | [] |
Tumor thymidylate synthase 1494del6 genotype as a prognostic factor in colorectal cancer patients receiving fluorouracil - based adjuvant treatment . PURPOSE : The purpose of this study was to analyze the value of germline and tumor thymidylate synthase ( TS ) genotyping as a prognostic marker in a series of colorectal... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "Tumor",
"start": 0,
"end": 5
},
{
"text": "colorectal cancer",
"start": 71,
"end": 88
},
{
"text": "tumor",
"start": 227,
"end": 232
},
{
... | [] |
Valproate - induced chorea and encephalopathy in atypical nonketotic hyperglycinemia . Nonketotic hyperglycinemia is a disorder of amino acid metabolism in which a defect in the glycine cleavage system leads to an accumulation of glycine in the brain and other body compartments . In the classical form it presents as ne... | {
"entities": {
"chemical_entity": [
{
"text": "Valproate",
"start": 0,
"end": 9
},
{
"text": "glycine",
"start": 178,
"end": 185
},
{
"text": "glycine",
"start": 230,
"end": 237
},
{
"text": ... | [] |
Bone morphogenetic protein - 4 interacts with activin and GnRH to modulate gonadotrophin secretion in LbetaT2 gonadotrophs . We have shown previously that , in sheep primary pituitary cells , bone morphogenetic proteins ( BMP ) - 4 inhibits FSHbeta mRNA expression and FSH release . In contrast , in mouse LbetaT2 gonado... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Bone morphogenetic protein - 4",
"start": 0,
"end": 30
},
{
"text": "activin",
"start": 46,
"end": 53
},
{
"text": "GnRH",
"start": 58,
"end": 62
},
... | [] |
Combination of polymorphisms within 5 ' and 3 ' untranslated regions of thymidylate synthase gene modulates survival in 5 fluorouracil - treated colorectal cancer patients . In the present study we explored the effect of three polymorphisms of the TS gene on overall and progression - free survival of colorectal cancer ... | {
"entities": {
"gene_or_gene_product": [
{
"text": "thymidylate synthase",
"start": 72,
"end": 92
},
{
"text": "TS",
"start": 248,
"end": 250
},
{
"text": "TS",
"start": 755,
"end": 757
},
{
... | [] |
Phosphatidylinositol 3 - kinase p85alpha regulatory subunit gene Met326Ile polymorphism in women with polycystic ovary syndrome . BACKGROUND : Insulin resistance is a core feature of polycystic ovary syndrome ( PCOS ) . Phosphatidylinositol ( PI ) 3 - kinase is an important enzyme in the early insulin signaling cascade... | {
"entities": {
"gene_or_gene_product": [
{
"text": "Phosphatidylinositol 3 - kinase",
"start": 0,
"end": 31
},
{
"text": "p85alpha",
"start": 32,
"end": 40
},
{
"text": "Phosphatidylinositol ( PI ) 3 - kinase",
"start":... | [] |
High - dose tranexamic Acid is associated with nonischemic clinical seizures in cardiac surgical patients . BACKGROUND : In 2 separate centers , we observed a notable increase in the incidence of postoperative convulsive seizures from 1 . 3 % to 3 . 8 % in patients having undergone major cardiac surgical procedures . T... | {
"entities": {
"chemical_entity": [
{
"text": "tranexamic Acid",
"start": 12,
"end": 27
},
{
"text": "tranexamic acid",
"start": 395,
"end": 410
},
{
"text": "TXA",
"start": 413,
"end": 416
},
{
... | [] |
Cocaine causes memory and learning impairments in rats : involvement of nuclear factor kappa B and oxidative stress , and prevention by topiramate . Different mechanisms have been suggested for cocaine toxicity including an increase in oxidative stress but the association between oxidative status in the brain and cocai... | {
"entities": {
"chemical_entity": [
{
"text": "Cocaine",
"start": 0,
"end": 7
},
{
"text": "topiramate",
"start": 136,
"end": 146
},
{
"text": "cocaine",
"start": 194,
"end": 201
},
{
"text":... | [] |
Antioxidant effects of bovine lactoferrin on dexamethasone - induced hypertension in rat . Dexamethasone - ( Dex - ) induced hypertension is associated with enhanced oxidative stress . Lactoferrin ( LF ) is an iron - binding glycoprotein with antihypertensive properties . In this study , we investigated the effect of c... | {
"entities": {
"chemical_entity": [
{
"text": "Antioxidant",
"start": 0,
"end": 11
},
{
"text": "dexamethasone",
"start": 45,
"end": 58
},
{
"text": "Dexamethasone",
"start": 91,
"end": 104
},
{
... | [] |
IL - 3 and CSF - 1 interact to promote generation of CD11c + IL - 10 - producing macrophages . Unraveling the mechanisms of hematopoiesis regulated by multiple cytokines remains a challenge in hematology . IL - 3 is an allergic cytokine with the multilineage potential , while CSF - 1 is produced in the steady state wit... | {
"entities": {
"gene_or_gene_product": [
{
"text": "IL - 3",
"start": 0,
"end": 6
},
{
"text": "CSF - 1",
"start": 11,
"end": 18
},
{
"text": "CD11c",
"start": 53,
"end": 58
},
{
"text": "IL ... | [] |
FGFR2 is required for airway basal cell self - renewal and terminal differentiation . Airway stem cells slowly self - renew and produce differentiated progeny to maintain homeostasis throughout the lifespan of an individual . Mutations in the molecular regulators of these processes may drive cancer or degenerative dise... | {
"entities": {
"gene_or_gene_product": [
{
"text": "FGFR2",
"start": 0,
"end": 5
},
{
"text": "FGF receptor 2",
"start": 406,
"end": 420
},
{
"text": "FGFR2",
"start": 423,
"end": 428
},
{
"t... | [] |
Biophysical and functional characterization of hippocalcin mutants responsible for human dystonia . Dystonia is a neurological movement disorder that forces the body into twisting , repetitive movements or sometimes painful abnormal postures . With the advent of next - generation sequencing technologies , the homozygou... | {
"entities": {
"gene_or_gene_product": [
{
"text": "hippocalcin",
"start": 47,
"end": 58
},
{
"text": "neuronal calcium sensor",
"start": 354,
"end": 377
},
{
"text": "NCS",
"start": 380,
"end": 383
},
... | [] |
Ca2 + - dependent endoplasmic reticulum stress correlation with astrogliosis involves upregulation of KCa3 . 1 and inhibition of AKT / mTOR signaling . BACKGROUND : The intermediate - conductance Ca2 + - activated K + channel KCa3 . 1 was recently shown to control the phenotype switch of reactive astrogliosis ( RA ) in... | {
"entities": {
"chemical_entity": [
{
"text": "Ca2 +",
"start": 0,
"end": 5
},
{
"text": "Fluo - 4AM",
"start": 719,
"end": 729
},
{
"text": "Ca2 +",
"start": 760,
"end": 765
},
{
"text": "Ca... | [] |
Vaccine candidates derived from a novel infectious cDNA clone of an American genotype dengue virus type 2 . BACKGROUND : A dengue virus type 2 ( DEN - 2 Tonga / 74 ) isolated from a 1974 epidemic was characterized by mild illness and belongs to the American genotype of DEN - 2 viruses . To prepare a vaccine candidate ,... | {
"entities": {
"organism_taxon": [
{
"text": "dengue virus type 2",
"start": 86,
"end": 105
},
{
"text": "dengue virus type 2",
"start": 123,
"end": 142
},
{
"text": "DEN - 2",
"start": 145,
"end": 152
},
... | [] |
Genetic investigation of the TSPYL1 gene in sudden infant death syndrome . BACKGROUND : Sudden infant death syndrome ( SIDS ) constitutes the most frequent cause of death in the postperinatal period in Germany . Recently , a lethal phenotype characterized by sudden infant death with dysgenesis of the testes syndrome ( ... | {
"entities": {
"gene_or_gene_product": [
{
"text": "TSPYL1",
"start": 29,
"end": 35
},
{
"text": "TSPYL1",
"start": 393,
"end": 399
},
{
"text": "TSPYL1",
"start": 472,
"end": 478
},
{
"text"... | [] |
Possible neuroleptic malignant syndrome related to concomitant treatment with paroxetine and alprazolam . A 74 - year - old man with depressive symptoms was admitted to a psychiatric hospital due to insomnia , loss of appetite , exhaustion , and agitation . Medical treatment was initiated at a daily dose of 20 mg parox... | {
"entities": {
"disease_or_phenotypic_feature": [
{
"text": "neuroleptic malignant syndrome",
"start": 9,
"end": 39
},
{
"text": "depressive symptoms",
"start": 133,
"end": 152
},
{
"text": "psychiatric",
"start": 171,
... | [] |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.