Publications:

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Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem

Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS

Publication Date: 2022-11

Variant appearance in text: rs2276731

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Association Between SNPs in the One-Carbon Metabolism Pathway and the Risk of Female Breast Cancer in a Chinese Population.

Pharmacogenomics And Personalized Medicine

Wang, Xuhong X; Xiong, Mengqiu M; Pan, Bei B; Cho, William C S WCS; Zhou, Jin J; Wang, Shukui S; He, Bangshun B

Publication Date: 2022

Variant appearance in text: rs2276731

PubMed Link: 35046699

Variant Present in the following documents:

• Main text
• pgpm-15-9.pdf

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Reduced B12 uptake and increased gastrointestinal formate are associated with archaeome-mediated breath methane emission in humans.

Microbiome

Kumpitsch, Christina C; Fischmeister, Florian Ph S FPS; Mahnert, Alexander A; Lackner, Sonja S; Wilding, Marilena M; Sturm, Corina C; Springer, Anna A; Madl, Tobias T; Holasek, Sandra S; Högenauer, Christoph C; Berg, Ivan A IA; Schoepf, Veronika V; Moissl-Eichinger, Christine C

Publication Date: 2021-09-24

Variant appearance in text: rs2276731

PubMed Link: 34560884

Variant Present in the following documents:

• Main text
• 40168_2021_Article_1130.pdf

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Host genetic control of gut microbiome composition.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

Bubier, Jason A JA; Chesler, Elissa J EJ; Weinstock, George M GM

Publication Date: 2021-08

Variant appearance in text: rs2276731

PubMed Link: 34159422

Variant Present in the following documents:

• Main text
• 335_2021_Article_9884.pdf

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Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Frontiers In Genetics

Feng, Wei-Xing WX; Zhuo, Xiu-Wei XW; Liu, Zhi-Mei ZM; Li, Jiu-Wei JW; Zhang, Wei-Hua WH; Wu, Yun Y; Han, Tong-Li TL; Fang, Fang F

Publication Date: 2021

Variant appearance in text: rs2276731

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Frontiers In Cellular And Infection Microbiology

Ding, Xiaofang X; Huang, Han H; Zhong, Lili L; Chen, Min M; Peng, Fang F; Zhang, Bing B; Cui, Xinyu X; Yang, Xiu-An XA

Publication Date: 2021

Variant appearance in text: rs2276731

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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The Role of Single-Nucleotide Polymorphisms in the Function of Candidate Tumor Suppressor ALDH1L1.

Frontiers In Genetics

Krupenko, Sergey A SA; Horita, David A DA

Publication Date: 2019

Variant appearance in text: rs2276731

PubMed Link: 31737034

Variant Present in the following documents:

• Main text
• fgene-10-01013.pdf

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Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology

Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P

Publication Date: 2018

Variant appearance in text: ALDH1L1: 529-42G>A; rs2276731

PubMed Link: 30319441

Variant Present in the following documents:

• Table_5.xlsx, sheet 1
• Table_7.xlsx, sheet 1

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ALDH1L1 variant rs2276724 and mRNA expression predict post-operative clinical outcomes and are associated with TP53 expression in HBV-related hepatocellular carcinoma.

Oncology Reports

Zhu, Guangzhi G; Liao, Xiwen X; Han, Chuangye C; Liu, Xiaoguang X; Yu, Long L; Qin, Wei W; Lu, Sicong S; Su, Hao H; Chen, Zhiwei Z; Liu, Zhengtao Z; Liang, Yu Y; Huang, Jianlu J; Yu, Tingdong T; Yang, Chengkun C; Huang, Ketuan K; Shang, Liming L; Ye, Xinping X; Li, Lequn L; Qin, Xue X; Xiao, Kaiyin K; Peng, Minhao M; Peng, Tao T

Publication Date: 2017-09

Variant appearance in text: rs2276731

PubMed Link: 28714006

Variant Present in the following documents:

• Main text
• or-38-03-1451.pdf

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Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs2276731

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

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Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs2276731

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2
• mmc3.xlsx, sheet 1

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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: rs2276731

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: rs2276731

PubMed Link: 25344837

Variant Present in the following documents:

• Main text

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Polymorphisms in 1-carbon metabolism, epigenetics and folate-related pathologies.

Journal Of Nutrigenetics And Nutrigenomics

Stover, Patrick J PJ

Publication Date: 2011

Variant appearance in text: rs2276731

PubMed Link: 22353665

Variant Present in the following documents:

• Main text

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A genetic signature of spina bifida risk from pathway-informed comprehensive gene-variant analysis.

Plos One

Marini, Nicholas J NJ; Hoffmann, Thomas J TJ; Lammer, Edward J EJ; Hardin, Jill J; Lazaruk, Katherine K; Stein, Jason B JB; Gilbert, Dennis A DA; Wright, Crystal C; Lipzen, Anna A; Pennacchio, Len A LA; Carmichael, Suzan L SL; Witte, John S JS; Shaw, Gary M GM; Rine, Jasper J

Publication Date: 2011

Variant appearance in text: rs2276731

PubMed Link: 22140583

Variant Present in the following documents:

• pone.0028408.s004.xls, sheet 1

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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: rs2276731

PubMed Link: 19064578

Variant Present in the following documents:

• Main text

View BVdb publication page

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