The NESHIE and CP Genetics Resource (NCGR): A database of genes and variants reported in neonatal encephalopathy with suspected hypoxic ischemic encephalopathy (NESHIE) and consequential cerebral palsy (CP).
Genomics
Holborn, Megan A MA; Ford, Graeme G; Turner, Sarah S; Mellet, Juanita J; van Rensburg, Jeanne J; Joubert, Fourie F; Pepper, Michael S MS
Publication Date: 2022-10-18
Variant appearance in text: MTHFR: 1632+35G>A; rs1476413
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma.
Scientific Reports
Rauf, Bushra B; Khan, Shahid Y SY; Jiao, Xiaodong X; Irum, Bushra B; Ashfaq, Ramla R; Zehra, Mubashra M; Khan, Asma A AA; Naeem, Muhammad Asif MA; Shahzad, Mohsin M; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA
Susceptibility of Genetic Variations in Methylation Pathway to Gastric Cancer.
Pharmacogenomics And Personalized Medicine
Xiong, Mengqiu M; Pan, Bei B; Wang, Xuhong X; Nie, Junjie J; Pan, Yuqin Y; Sun, Huiling H; Xu, Tao T; Cho, William C S WCS; Wang, Shukui S; He, Bangshun B
Clinical and Laboratory Associations with Methotrexate Metabolism Gene Polymorphisms in Rheumatoid Arthritis.
Journal Of Personalized Medicine
D'Cruz, Leon G LG; McEleney, Kevin G KG; Tan, Kyle B C KBC; Shukla, Priyank P; Gardiner, Philip V PV; Connolly, Patricia P; Conway, Caroline C; Cobice, Diego D; Gibson, David S DS
Genome-wide association study of circulating folate one-carbon metabolites.
Genetic Epidemiology
Wang, Jun J; Asante, Isaac I; Baron, John A JA; Figueiredo, Jane C JC; Haile, Robert R; Joan Levine, A A; Newcomb, Polly A PA; Templeton, Allyson S AS; Schumacher, Fredrick R FR; Louie, Stan G SG; Casey, Graham G; Conti, David V DV
The 677C→T variant of MTHFR is the major genetic modifier of biomarkers of folate status in a young, healthy Irish population.
The American Journal Of Clinical Nutrition
Shane, Barry B; Pangilinan, Faith F; Mills, James L JL; Fan, Ruzong R; Gong, Tingting T; Cropp, Cheryl D CD; Kim, Yoonhee Y; Ueland, Per M PM; Bailey-Wilson, Joan E JE; Wilson, Alexander F AF; Brody, Lawrence C LC; Molloy, Anne M AM
Serum homocysteine, arsenic methylation, and arsenic-induced skin lesion incidence in Bangladesh: A one-carbon metabolism candidate gene study.
Environment International
Niedzwiecki, Megan M MM; Liu, Xinhua X; Zhu, Huiping H; Hall, Megan N MN; Slavkovich, Vesna V; Ilievski, Vesna V; Levy, Diane D; Siddique, Abu B AB; Kibriya, Muhammad G MG; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Navas-Acien, Ana A; Graziano, Joseph H JH; Finnell, Richard H RH; Ahsan, Habibul H; Gamble, Mary V MV
Polymorphisms and Pharmacogenomics for the Clinical Efficacy of Methotrexate in Patients with Rheumatoid Arthritis: A Systematic Review and Meta-analysis.
Allele Frequencies of the Single Nucleotide Polymorphisms Related to the Body Burden of Heavy Metals in the Korean Population and Their Ethnic Differences.
Toxicological Research
Eom, Sang-Yong SY; Lim, Ji-Ae JA; Kim, Yong-Dae YD; Choi, Byung-Sun BS; Hwang, Myung Sil MS; Park, Jung-Duck JD; Kim, Heon H; Kwon, Ho-Jang HJ
Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.
Acta Neuropathologica Communications
Shankar, Ganesh M GM; Taylor-Weiner, Amaro A; Lelic, Nina N; Jones, Robert T RT; Kim, James C JC; Francis, Joshua M JM; Abedalthagafi, Malak M; Borges, Lawrence F LF; Coumans, Jean-Valery JV; Curry, William T WT; Nahed, Brian V BV; Shin, John H JH; Paek, Sun Ha SH; Park, Sung-Hye SH; Stewart, Chip C; Lawrence, Michael S MS; Cibulskis, Kristian K; Thorner, Aaron R AR; Van Hummelen, Paul P; Stemmer-Rachamimov, Anat O AO; Batchelor, Tracy T TT; Carter, Scott L SL; Hoang, Mai P MP; Santagata, Sandro S; Louis, David N DN; Barker, Fred G FG; Meyerson, Matthew M; Getz, Gad G; Brastianos, Priscilla K PK; Cahill, Daniel P DP
Interaction between arsenic exposure from drinking water and genetic polymorphisms on cardiovascular disease in Bangladesh: a prospective case-cohort study.
Environmental Health Perspectives
Wu, Fen F; Jasmine, Farzana F; Kibriya, Muhammad G MG; Liu, Mengling M; Cheng, Xin X; Parvez, Faruque F; Islam, Tariqul T; Ahmed, Alauddin A; Rakibuz-Zaman, Muhammad M; Jiang, Jieying J; Roy, Shantanu S; Paul-Brutus, Rachelle R; Slavkovich, Vesna V; Islam, Tariqul T; Levy, Diane D; VanderWeele, Tyler J TJ; Pierce, Brandon L BL; Graziano, Joseph H JH; Ahsan, Habibul H; Chen, Yu Y
Mapping eQTLs in the Norfolk Island genetic isolate identifies candidate genes for CVD risk traits.
American Journal Of Human Genetics
Benton, Miles C MC; Lea, Rod A RA; Macartney-Coxson, Donia D; Carless, Melanie A MA; Göring, Harald H HH; Bellis, Claire C; Hanna, Michelle M; Eccles, David D; Chambers, Geoffrey K GK; Curran, Joanne E JE; Harper, Jacquie L JL; Blangero, John J; Griffiths, Lyn R LR
Genetic variation in glutathione S-transferase omega-1, arsenic methyltransferase and methylene-tetrahydrofolate reductase, arsenic exposure and bladder cancer: a case-control study.
Environmental Health : A Global Access Science Source
Beebe-Dimmer, Jennifer L JL; Iyer, Priyanka T PT; Nriagu, Jerome O JO; Keele, Greg R GR; Mehta, Shilpin S; Meliker, Jaymie R JR; Lange, Ethan M EM; Schwartz, Ann G AG; Zuhlke, Kimberly A KA; Schottenfeld, David D; Cooney, Kathleen A KA
Comprehensive evaluation of one-carbon metabolism pathway gene variants and renal cell cancer risk.
Plos One
Gibson, Todd M TM; Brennan, Paul P; Han, Summer S; Karami, Sara S; Zaridze, David D; Janout, Vladimir V; Kollarova, Helen H; Bencko, Vladimir V; Navratilova, Marie M; Szeszenia-Dabrowska, Neonila N; Mates, Dana D; Slamova, Alena A; Pfeiffer, Ruth M RM; Stolzenberg-Solomon, Rachael Z RZ; Mayne, Susan T ST; Yeager, Meredith M; Chanock, Stephen S; Rothman, Nat N; Chow, Wong-Ho WH; Rosenberg, Philip S PS; Boffetta, Paolo P; Moore, Lee E LE
Variation in folate pathway genes and distal colorectal adenoma risk: a sigmoidoscopy-based case-control study.
Cancer Causes & Control : Ccc
Levine, A Joan AJ; Lee, Won W; Figueiredo, Jane C JC; Conti, David V DV; Vandenberg, David J DJ; Davis, Brian D BD; Edlund, Christopher K CK; Henning, Susanne M SM; Heber, David D; Stern, Mariana C MC; Haile, Robert W RW
Genetic variability in the MTHFR gene and colorectal cancer risk using the colorectal cancer family registry.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Levine, A Joan AJ; Figueiredo, Jane C JC; Lee, Won W; Poynter, Jenny N JN; Conti, David D; Duggan, David J DJ; Campbell, Peter T PT; Newcomb, Polly P; Martinez, Maria Elena ME; Hopper, John L JL; Le Marchand, Loic L; Baron, John A JA; Limburg, Paul J PJ; Ulrich, Cornelia M CM; Haile, Robert W RW
Association analyses suggest multiple interaction effects of the methylenetetrahydrofolate reductase polymorphisms on timing of menarche and natural menopause in white women.
Menopause (New York, N.Y.)
Liu, Pengyuan P; Lu, Yan Y; Recker, Robert R RR; Deng, Hong-Wen HW; Dvornyk, Volodymyr V
118 SNPs of folate-related genes and risks of spina bifida and conotruncal heart defects.
Bmc Medical Genetics
Shaw, Gary M GM; Lu, Wei W; Zhu, Huiping H; Yang, Wei W; Briggs, Farren B S FB; Carmichael, Suzan L SL; Barcellos, Lisa F LF; Lammer, Edward J EJ; Finnell, Richard H RH
Whole-genome amplification enables accurate genotyping for microarray-based high-density single nucleotide polymorphism array.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Jasmine, Farzana F; Ahsan, Habibul H; Andrulis, Irene L IL; John, Esther M EM; Chang-Claude, Jenny J; Kibriya, Muhammad G MG
Oral facial clefts and gene polymorphisms in metabolism of folate/one-carbon and vitamin A: a pathway-wide association study.
Genetic Epidemiology
Boyles, Abee L AL; Wilcox, Allen J AJ; Taylor, Jack A JA; Shi, Min M; Weinberg, Clarice R CR; Meyer, Klaus K; Fredriksen, Ase A; Ueland, Per Magne PM; Johansen, Anne Marte W AM; Drevon, Christian A CA; Jugessur, Astanand A; Trung, Truc Nguyen TN; Gjessing, Håkon K HK; Vollset, Stein Emil SE; Murray, Jeffrey C JC; Christensen, Kaare K; Lie, Rolv T RT