Poly(ADP-ribose) polymerase-1 modulates Nrf2-dependent transcription
Keywords: PARP-1; Nrf2; ARE; Maf; Transcriptional coactivator; Free radicals;
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BsmI polymorphism of vitamin D receptor gene and cancer risk: A comprehensive meta-analysis
Keywords: AA; African-American; BCC; basal cell carcinoma; CCS1-2; case-control study 1-2; CPS-II; cancer prevention study II; CI; confidence interval; DGGE; denaturing gradient gel electrophoresis; DHPLC; denaturing high performance liquid chromatography; EAC; e
Tolerogenic signaling by pulmonary CD1c+ dendritic cells induces regulatory T cells in patients with chronic obstructive pulmonary disease by IL-27/IL-10/inducible costimulator ligand
Keywords: Chronic obstructive pulmonary disease; dendritic cells; regulatory T cells; IL-27; IL-10; inducible costimulator ligand; AHR; Aryl hydrocarbon receptor; APC; Antigen-presenting cell; BAL; Bronchoalveolar lavage; CD1c+DCCOPD; CD1c+ DCs from lung samples ob
Association study between of Tie2/Angiopoietin-2 and VEGF/KDR pathway gene polymorphisms and vascular malformations
Keywords: VM; vascular malformation; VEGF; vascular endothelial growth factor; VEGFR2; vascular endothelial growth receptor-2; TEK; tyrosine kinase, endothelial; TEM8; tumor endothelium marker 8; MAF; minor allele frequency; CI; confidence interval; HWE; Hardy-We
No association of functional variant in pri-miR-218 and risk of congenital heart disease in a Chinese population
Keywords: CHD; Congenital heart disease; SNP; single nucleotide polymorphism; ASD; atrial septal defects; VSD; ventricular septal defects; TOF; Tetralogy of Fallot; PDA; patent ductus arteriosus; MAF; minor allele frequency; FAM; 6-carboxyfluoroscein; BHQ-1; Black
Lack of association between genetic polymorphisms in ROBO1, MRPL19/C2ORF3 and THEM2 with Developmental Dyslexia
Keywords: DD; Developmental Dyslexia; SNPs; Single Nucleotide Polymorphisms; SPM; Standard Progressive Matrices; MALDI-TOF MS; Matrix-Assisted Laser Desorption/Ionization Time-Of-Flight Mass Spectrometry; HWE; Hardy-Weinberg Equilibrium; MAF; Minor Allele Frequen
Association of POL1, MALT1, MC4R, PHLPP and DSEL single nucleotide polymorphisms in chromosome 18q region with type 2 diabetes in Tunisians
Keywords: AER; albumin excretion rate; BMI; body-mass index; DN; diabetic nephropathy; DWN; diabetes without nephropathy; ESRD; end-stage renal disease; FPG; fasting plasma glucose; GWAS; genome-wide association studies; MAF; minor allele frequency; OGTT; oral gluc
Association study of CRP gene polymorphism and hypertension in Han Chinese population
Keywords: BMI; body mass index; Ï2; Chi-square; CHB; Chinese population in Beijing; CRP; C-reactive protein; CRPP1; C-reactive protein pseudogene 1; DBP; diastolic blood pressure; EDTA; ethylenediamine tetraacetic acid; ET-1; endothelin 1; GLM; general linear mode
Polymorphisms and phenotypic analysis of cytochrome P450 2D6 in the Tibetan population
Keywords: bp; base pair(s); CYP; cytochrome P450; DNA; deoxyribonucleic acid; EM; extensive metabolizer; LD; linkage disequilibrium; LOD; log odds score; MAF; minor allele frequency; min; minute; PCR; Polymerase Chain Reaction; PM; poor metabolizer; s; second; SNP;
Influence of variants in the NPY gene on obesity and metabolic syndrome features in Spanish children
Keywords: NPY; neuropeptide Y; SNP; single nucleotide polymorphism; TAG; triacylglycerols; LDL-c; low-density lipoprotein-cholesterol; BP; blood pressure; BMI; body mass index; CVD; cardiovascular diseases; IOTF; International Obesity Task Force; PAI; 1 plasminogen
Association of serotonin transporter gene (SLC6A4) polymorphisms with schizophrenia susceptibility and symptoms in a Chinese-Han population
Keywords: SZ; schizophrenia; SLC6A4; solute carrier family 6 member 4; SNP; single nucleotide polymorphism; OR; odds ratio; CI; confidence interval; OMIM; Online Mendelian Inheritance in Man; DSM-IV; Diagnostic and Statistical Manual of Mental Disorders-Fourth Edit
The DOPA decarboxylase (DDC) gene is associated with alerting attention
Keywords: DDC; DOPA decarboxylase; ANT; attention network test; DRD4; dopamine D4 receptor; MAOA; monoamine oxidase a; TPH 2; tryptophan hydroxylase 2; COMT; catechol-o-methyltransferase; DAT 1; dopamine transporter; ADHD; attention-deficit/hyperactivity disorder;
Association study of NRXN3 polymorphisms with schizophrenia and risperidone-induced bodyweight gain in Chinese Han population
Keywords: NRXN3; Neurexin-3; SNPs; single nucleotide polymorphisms; SCZ; schizophrenia; NLGNs; neuroligins; BWG; body weight gain; DSM-IV; Diagnostic and Statistical Manual of Mental Disorders, 4th ed; MAF; minor allele frequency; 5'UTR; 5' untranslated region;
Relation between variants in the neurotrophin receptor gene, NTRK3, and white matter integrity in healthy young adults
Keywords: NTRK3 aka TRKC; neurotrophic tyrosine kinase, receptor, type 3 gene; NT3; neurotrophin 3â²-nucleotidase; BPD; bipolar disorder; OCD; obsessive-compulsive disorder; DTI; diffusion tensor imaging; FA; fractional anisotropy; SNP; single nucleotide polymor
Hepatoprotective action of Orthosiphon diffusus (Benth.) methanol active fraction through antioxidant mechanisms: An in vivo and in vitro evaluation
Keywords: ALP; Alkaline phosphatase; CCl4; Carbon tetrachloride; CAT; Catalase; GPx; Glutathione peroxidase; GSH; Glutathione; GST; Glutathione-s-transferase; HepG2; Human hepatocellular carcinoma cells; LDH; Lactate dehydrogenase; MAF; Methanol active fraction; MD
β-Catenin signaling induces CYP1A1 expression by disrupting adherens junctions in Caco-2 human colon carcinoma cells
Keywords: ARNT; Ah receptor nuclear translocator; bHLH; basic helix-loop-helix; CTF2; E-cadherin carboxy terminal fragment 2; CYP1A1; cytochrome P-450 1A1; DAPT; N-[N-(3,5-difluorophenacetyl)-L-alanyl]-S-phenylglycine t-butyl ester; EMT; epithelial-mesenchymal tr
Cytochrome P450 enzymes in drug metabolism: Regulation of gene expression, enzyme activities, and impact of genetic variation
Keywords: Biotransformation; Cytochrome P450 monooxygenase; NADPH:cytochrome P450 reductase; Pharmacogenetics; Polymorphism; Xenobiotic; ADME; absorption, distribution, metabolism, excretion; ADR; adverse drug reaction; AhR; aromatic hydrocarbon receptor; CNV; copy
Inhibition of phospholipase A2 abrogates intracellular processing of NADPH-oxidase derived reactive oxygen species in human neutrophils
Keywords: AA, arachidonic acid; BEL, bromoenol lactone; CL, chemiluminescence; cPLA2, cytosolic phospholipase A2; DEDA, 7,7-dimethyleicosadienoic acid; fMLF, formyl-methionyl-leucyl-phenylalanine; HRP, horseradish peroxidase; KRG, krebs-ringer phosphate buffer; MAF
Identification of Genetic Susceptibility Loci for Colorectal Tumors in a Genome-Wide Meta-analysis
Keywords: Colon Cancer; Genetics; Risk Factors; SNP; CCFR; Colon Cancer Family Registry; CCND; cyclin D2; CEU; Utah residents with Northern and Western European ancestry from the CEPH collection; CEPH; Centre d'etude du polymorphisme humain; GECCO; Genetics and Epi
Polymorphisms in SP110 are not associated with pulmonary tuberculosis in Indonesians
Keywords: TB; tuberculosis; SNP; single nucleotide polymorphism; HIV; Human immunodeficiency virus; Ct; cycle threshold; d.f.; degree freedom; MAF; minor allele frequency; HWE; Hardy Weinberg equilibrium; QC; quality control; WHO; World Health Organization; OPA; ol
Genetic polymorphisms in the DNA repair gene XRCC1 and susceptibility to glioma in a Han population in northeastern China: A case-control study
Keywords: CNS; central nervous system; SNPs; single nucleotide polymorphisms; BER; base excision repair; SSBs; single strand breaks; DSB; double strand break; PCR-RFLP; polymerase chain reaction-restriction fragment length polymorphism; HWE; Hardy-Weinberg equi
Molecular basis of albinism in India: Evaluation of seven potential candidate genes and some new findings
Keywords: A; adenosine; Ala; alanine; Arg; arginine; AROA; autosomal recessive ocular albinism; Asn; asparagine; C; cytidine; CSIR; Council of Scientific and Industrial Research; Câterminal; carboxy terminal; Cys; cysteine; DCT; DOPAchrome tautomerase; db SNP; Th
The small MAF transcription factors MAFF, MAFG and MAFK: Current knowledge and perspectives
Keywords: MAF; bZIP; CNC; Gene regulation; Stress signaling; Cancer;
Enzymatic activity and genetic variation in SCD1 modulate the relationship between fatty acids and inflammation
Keywords: BMI; body mass index; CRP; C-Reactive protein; FA; fatty acids; FFQ; food frequency questionnaire; HOMA-IR; homeostasis model of assessment of insulin resistance; HWE; Hardy-Weinberg equilibrium; MAF; minor allele frequency; MUFA; monounsaturated fatty
Genetic and functional analyses of early growth response (EGR) family genes in schizophrenia
Keywords: COMT; catechol-O-methyltransferase; DSM-IV; diagnostic and statistical manual of mental disorders-IV; EGR; early growth response; HRM; high resolution melting; MAF; minor allele frequency; NF-kappaB; nuclear mediator nuclear factor-kappa B; NMDAR; N-methy
Pilot Genome-Wide Association Search Identifies Potential Loci for Risk of Erectile Dysfunction in Type 1 Diabetes Using the DCCT/EDIC Study Cohort
Keywords: penis; diabetes mellitus, type I; erectile dysfunction; polymorphism, single nucleotide; activated-leukocyte cell adhesion molecule; ALCAM; activated leukocyte cell adhesion molecule; ED; erectile dysfunction; GWAS; genome-wide association study; IIEF; In
How many genes are involved in schizophrenia? A simple simulation
Keywords: CNV; copy number variation; HWE; Hardy-Weinberg Equilibrium; GP; general population; MAF; minor allele frequency; NP; non-patient population; OR; odds ratio; PP; patient population; SN; sample number; pG_; genotype frequency (in designated population);
High circulating levels of S100A8/A9 complex (calprotectin) in male Japanese with abdominal adiposity and dysregulated expression of S100A8 and S100A9 in adipose tissues of obese mice
Keywords: MAF; mature adipocytes fraction; RAGE; receptor for advanced glycation end-products; SAA3; serum amyloid A 3; SVF; stromal vascular cell fraction; TLR4; toll-like receptor 4; S100A8; S100A9; Calprotectin; Adiposity;
Genetic contribution to C-reactive protein levels in severe obesity
Keywords: BMI; Body mass index; BP; Blood pressure; CD163; CD163 molecule; cDNA; Complimentary DNA; CRP; C-reactive protein; CVD; Cardiovascular disease; CXCL9; Chemokine (C-X-C motif) ligand 9; DBP; Diastolic blood pressure; LDL-C; Low-density lipoprotein choleste
Increased risk of lung cancer associated with a functionally impaired polymorphic variant of the human DNA glycosylase NEIL2
Keywords: AP site; apurinic/apyrimidinic site; BER; base excision repair; Fpg; formamidopyrimidine [fapy]-DNA glycosylase; HPRT; hypoxanthine phosphoribosyltransferase; IC; immunocomplex; LA QPCR; long amplicon quantitative PCR; Lig IIIα; ligase IIIα; MAF; minor
Associations between maternal genotypes and metabolites implicated in congenital heart defects
Keywords: BHMT; betaine-homocysteine methyltransferase gene; CAT; catalase gene; CHDs; congenital heart defects; COMT; catechol-O-methyltransferase gene; FDR; false discovery rate; GluCys; glutamylcysteine; GPX3; glutathione peroxidase 3 gene; GPX6; glutathione per
Increased Bile Acid Biosynthesis Is Associated With Irritable Bowel Syndrome With Diarrhea
Keywords: Colon; Malabsorption; Liver; Metabolism; BA; bile acid; BAM; bile acid malabsorption; BMI; body mass index; C4; 7α-hydroxy-4-cholesten-3-one; FGF; fibroblast growth factor; FGFR4; fibroblast growth factor receptor 4; HV; healthy volunteers; IBS; irritabl
IL-4 receptor polymorphisms predict reduction in asthma exacerbations during response to an anti-IL-4 receptor α antagonist
Keywords: Pharmacogenetics; pitrakinra; IL-4 receptor; asthma therapy; IL-4 receptor antagonist; Feno; Fraction of exhaled nitric oxide; IL4RA; IL-4 receptor α gene; LABA; Long-acting β-agonist; MAF; Minor allele frequency; SNP; Single nucleotide polymorphism;
Single-nucleotide polymorphisms (SNPs) of the IRF6 and TFAP2A in non-syndromic cleft lip with or without cleft palate (NSCLP) in a northern Chinese population
Keywords: NSCLP; non-syndromic cleft lip with or without cleft palate; CLP; cleft lip and palate; CLO; cleft lip only; IRF6; interferon regulatory factor 6; TFAP2A; transcription factor AP-2a; BOFS; Branchio-Oculo-Facial; LDR; ligase detection reactions; PCR; p
Association analysis of the GDNF gene with methamphetamine use disorder in a Japanese population
Keywords: MAP; methamphetamine; GDNF; Glial cell line-derived neurotrophic factor; DA; dopamine; UTR; untranslated region; SNP; single nucleotide polymorphism; GFRA; GDNF family receptor alpha; RET; rearranged during transfection; JGIDA; Japanese Genetics Initiativ
Relationship between TP73 polymorphism (G4C14-A4T14) and cancer risk: A meta-analysis based on literatures
Keywords: MAF; minor allele frequency; HWE; Hardy-Weinberg equilibrium; OR; odds ratio; CI; confidence interval; TP73; tumor protein p73; TP73; G4C14-A4T14; Polymorphism; Cancer risk; Meta-analysis;
Analysis of mutations and the association between polymorphisms in the cerebral dopamine neurotrophic factor (CDNF) gene and Parkinson disease
Keywords: CDNF; cerebral dopamine neurotrophic factor; PD; Parkinson disease; SNP; single nucleotide polymorphism; EOPD; early-onset Parkinson disease; GDNF; glial-cell line derived neurotrophic factors; OR; odd ratio; CI; confidence interval; MAF; minor allele fre
Effects of rs6234/rs6235 and rs6232/rs6234/rs6235 PCSK1 single-nucleotide polymorphism clusters on proprotein convertase 1/3 biosynthesis and activity
Keywords: ACTH; adrenocorticotropic hormone; CT; carboxyl-terminal; ER; endoplasmic reticulum; MAF; minor allele frequency; ORF; open reading frame; PC; proprotein convertases; PCSK; proprotein convertase, subtilisin/kexin type; POMC; proopiomelanocortin; SNP; sing
ChREBP gene polymorphisms are associated with coronary artery disease in Han population of Hubei province
Keywords: CAD; coronary artery disease; AS; atherosclerosis; SMC; smooth muscle cells; ChREBP; carbohydrate response element binding protein; BMI; body mass index; SBP; Systolic blood pressure; DBP; Diastolic blood pressure; DM; diabetes mellitus; TC; total cholest
Association of TNFSF8 Polymorphisms With Peripheral Neutrophil Count
Keywords: GWAS; genome-wide association study; HF; heart failure; IL; interleukin; MAF; minor allele frequency; MI; myocardial infarction; SNP; single-nucleotide polymorphism; TNF; tumor necrosis factor;
NTM and NR3C2 polymorphisms influencing intelligence: Family-based association studies
Keywords: ADHD; attention-deficit/hyperactivity disorder; AP3B1; adaptor-related protein complex 3, beta 1 subunit; CDCA7L; cell division cycle associated 7-like; CHRM2; cholinergic receptor, muscarinic 2; COGA; Collaborative Study on the Genetics of Alcoholism; CO
Genome-wide association study of blood pressure response to methylphenidate treatment of attention-deficit/hyperactivity disorder
Keywords: ADHD; attention-deficit/hyperactivity disorder; MTS; methylphenidate transdermal system; SNP; Single Nucleotide Polymorphism; FERM; Protein 4.1, Ezrin, Radixin, Moesin; bpm; beats per minute; bp; Base Paur; VNTR; Variable Number Tandem Repeat; DSM-IV-TR;
Association of DRD2 and DRD3 polymorphisms with Parkinson's disease in a multiethnic consortium
Keywords: CI; confidence interval; DRD2; dopamine receptor D2; DRD3; dopamine receptor D3; FAME; Farming and Movement Evaluation; HAAS; Honolulu Aging Asia Study; KPMCP; Kaiser Permanente Medical Care Program; MAF; minor allele frequency; OR; odds ratio; PD; Parkin
Induction of regulatory Tr1 cells and inhibition of TH17 cells by IL-27
Keywords: Tr1 cells, type 1 regulatory T cells; TH17, T helper 17; Stat, signal transducer and activator of transcription; Maf, transcription factor Maf; Ahr, Aryl hydrocarbon receptorIL-27; TH17 cells; Tr1 cells; Foxp3+ regulatory T cells; Stat; Maf
Structural investigations of magnesium silicate glasses by 29Si 2D Magic-Angle Flipping NMR
Keywords: Glass; 29Si NMR; MAF; Alkaline earth silicate; Silicate disproportionation;
Exome Array Analysis Identifies Variants in SPOCD1 and BTN3A2 That Affect Risk for Gastric Cancer
Keywords: Stomach Cancer; Genetics; Mutation; Gene Regulation; BTN; butyrophilin; ENCODE; Encyclopedia of DNA Elements; GTEx; genotype-tissue expression; GWAS; genome-wide association studies; GWAS-BJ; the Beijing samples of our previous GWAS; GWAS-NCI; gastric can
Research ArticleThe 148M allele of the PNPLA3 gene is associated with indices of liver damage early in life
Keywords: NAFLD; non-alcoholic fatty liver disease; ALT; alanine transaminase; AST; aspartate transaminase; BMI; body mass index; HOMA-IR; homeostasis model assessment for insulin resistance; MAF; minor allele frequency; Childhood obesity; Hepatic transaminases; NA
A FTO variant and risk of acute coronary syndrome
Keywords: ACS; acute coronary syndrome; BMI; body mass index; CR; call rate; FTO; fat mass and obesity related; MAF; minor allele frequency; SNP; single nucleotide polymorphisms; WHR; waist hip ratio; Acute coronary syndrome; FTO; Polymorphism; Body mass index;
Common Variants Near Melanocortin 4 Receptor Are Associated with General and Visceral Adiposity in European- and African-American Youth
Keywords: AA; African-American; APEX; Adiposity Prevention through EXercise; %BF; Percent body fat; BMI; Body mass index; CI; Confidence interval; DXA; Dual-energy X-ray absorptiometry; EA; Europe-American; FTO; Fat mass and obesity-associated; GWAS; Genome-wide as
New testicular mechanisms involved in the prevention of fetal meiotic initiation in mice
Keywords: RA, retinoic acid; GC, germ cell; dpc, days post-conception; dpp, days post-partum; DAB, 3,3'-diaminobenzidine; MIF, meiosis inhibiting factor; MAF, mitotic arrest factorOogonia; Meiosis; MAF; MIF; Gonocyte; Embryonic gonad