Publications:

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Differential methylation in EGLN1 associates with blood oxygen saturation and plasma protein levels in high-altitude pulmonary edema.

Clinical Epigenetics

Sharma, Kavita K; Mishra, Aastha A; Singh, Himanshu H; Thinlas, Tashi T; Pasha, M A Qadar MAQ

Publication Date: 2022-09-30

Variant appearance in text: rs502396

PubMed Link: 36180894

Variant Present in the following documents:

• Main text
• 13148_2022_Article_1338.pdf

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Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors.

Frontiers In Cell And Developmental Biology

Martinelli, Marcella M; Palmieri, Annalisa A; Carinci, Francesco F; Scapoli, Luca L

Publication Date: 2020

Variant appearance in text: rs502396

PubMed Link: 33195260

Variant Present in the following documents:

• Main text
• fcell-08-592271.pdf

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LINE-1 and EPAS1 DNA methylation associations with high-altitude exposure.

Epigenetics

Childebayeva, Ainash A; Jones, Tamara R TR; Goodrich, Jaclyn M JM; Leon-Velarde, Fabiola F; Rivera-Chira, Maria M; Kiyamu, Melisa M; Brutsaert, Tom D TD; Dolinoy, Dana C DC; Bigham, Abigail W AW

Publication Date: 2019-01

Variant appearance in text: rs502396

PubMed Link: 30574831

Variant Present in the following documents:

• Main text

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Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.

The Pharmacogenomics Journal

Choi, Jihoon J; Tantisira, Kelan G KG; Duan, Qing Ling QL

Publication Date: 2019-04

Variant appearance in text: rs502396

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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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

Publication Date: 2018-04

Variant appearance in text: rs502396

PubMed Link: 29421402

Variant Present in the following documents:

• Main text

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Associations between genetic variation in one-carbon metabolism and LINE-1 DNA methylation in histologically normal breast tissues.

Epigenetics

Llanos, Adana A M AA; Marian, Catalin C; Brasky, Theodore M TM; Dumitrescu, Ramona G RG; Liu, Zhenhua Z; Mason, Joel B JB; Makambi, Kepher H KH; Spear, Scott L SL; Kallakury, Bhaskar V S BV; Freudenheim, Jo L JL; Shields, Peter G PG

Publication Date: 2015

Variant appearance in text: rs502396

PubMed Link: 26090795

Variant Present in the following documents:

• Main text

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Relationships among folate, alcohol consumption, gene variants in one-carbon metabolism and p16INK4a methylation and expression in healthy breast tissues.

Carcinogenesis

Llanos, Adana A AA; Dumitrescu, Ramona G RG; Brasky, Theodore M TM; Liu, Zhenhua Z; Mason, Joel B JB; Marian, Catalin C; Makambi, Kepher H KH; Spear, Scott L SL; Kallakury, Bhaskar V S BV; Freudenheim, Jo L JL; Shields, Peter G PG

Publication Date: 2015-01

Variant appearance in text: rs502396

PubMed Link: 25344837

Variant Present in the following documents:

• Main text

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Conotruncal heart defects and common variants in maternal and fetal genes in folate, homocysteine, and transsulfuration pathways.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Hobbs, Charlotte A CA; Cleves, Mario A MA; Macleod, Stewart L SL; Erickson, Stephen W SW; Tang, Xinyu X; Li, Jingyun J; Li, Ming M; Nick, Todd T; Malik, Sadia S; ,

Publication Date: 2014-02

Variant appearance in text: rs502396

PubMed Link: 24535845

Variant Present in the following documents:

• Main text

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Maternal and infant gene-folate interactions and the risk of neural tube defects.

American Journal Of Medical Genetics. Part A

Etheredge, Analee J AJ; Finnell, Richard H RH; Carmichael, Suzan L SL; Lammer, Edward J EJ; Zhu, Huiping H; Mitchell, Laura E LE; Shaw, Gary M GM

Publication Date: 2012-10

Variant appearance in text: rs502396

PubMed Link: 22903727

Variant Present in the following documents:

• Main text

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Thymidylate synthase polymorphisms and risk of conotruncal heart defects.

American Journal Of Medical Genetics. Part A

Zhu, Huiping H; Yang, Wei W; Shaw, Nathan N; Perloff, Spencer S; Carmichael, Suzan L SL; Finnell, Richard H RH; Shaw, Gary M GM; Lammer, Edward J EJ

Publication Date: 2012-09

Variant appearance in text: rs502396

PubMed Link: 22887475

Variant Present in the following documents:

• Main text

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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

Publication Date: 2011-04

Variant appearance in text: rs502396

PubMed Link: 21274745

Variant Present in the following documents:

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Folate pathway and nonsyndromic cleft lip and palate.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Blanton, Susan H SH; Henry, Robin R RR; Yuan, Quiping Q; Mulliken, John B JB; Stal, Samuel S; Finnell, Richard H RH; Hecht, Jacqueline T JT

Publication Date: 2011-01

Variant appearance in text: rs502396

PubMed Link: 21254359

Variant Present in the following documents:

• Main text

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Nonsyndromic cleft lip and palate: CRISPLD genes and the folate gene pathway connection.

Birth Defects Research. Part A, Clinical And Molecular Teratology

Chiquet, Brett T BT; Henry, Robin R; Burt, Amber A; Mulliken, John B JB; Stal, Samuel S; Blanton, Susan H SH; Hecht, Jacqueline T JT

Publication Date: 2011-01

Variant appearance in text: rs502396

PubMed Link: 21254358

Variant Present in the following documents:

• Main text

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Genes and abdominal aortic aneurysm.

Annals Of Vascular Surgery

Hinterseher, Irene I; Tromp, Gerard G; Kuivaniemi, Helena H

Publication Date: 2011-04

Variant appearance in text: rs502396

PubMed Link: 21146954

Variant Present in the following documents:

• Main text

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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

Publication Date: 2009-06-03

Variant appearance in text: rs502396

PubMed Link: 19493349

Variant Present in the following documents:

• Main text
• 1471-2350-10-49.pdf

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Association of thymidylate synthase gene with endometrial cancer risk in a Chinese population.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Xu, Wang-Hong WH; Long, Ji-Rong JR; Zheng, Wei W; Ruan, Zhi-Xian ZX; Cai, Qiuyin Q; Cheng, Jia-Rong JR; Zhao, Gen-Ming GM; Xiang, Yong-Bing YB; Shu, Xiao-Ou XO

Publication Date: 2009-02

Variant appearance in text: rs502396

PubMed Link: 19190136

Variant Present in the following documents:

• Main text

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No association of single nucleotide polymorphisms in one-carbon metabolism genes with prostate cancer risk.

Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology

Stevens, Victoria L VL; Rodriguez, Carmen C; Sun, Juzhong J; Talbot, Jeffrey T JT; Thun, Michael J MJ; Calle, Eugenia E EE

Publication Date: 2008-12

Variant appearance in text: rs502396

PubMed Link: 19064578

Variant Present in the following documents:

• Main text

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