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: rs17033

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

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Alcohol-Induced Oxidative Stress and the Role of Antioxidants in Alcohol Use Disorder: A Systematic Review.

Antioxidants (Basel, Switzerland)

Tsermpini, Evangelia Eirini EE; Plemenitaš Ilješ, Anja A; Dolžan, Vita V

Publication Date: 2022-07-15

Variant appearance in text: rs17033

PubMed Link: 35883865

Variant Present in the following documents:

• Main text
• antioxidants-11-01374.pdf

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Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.

Bmc Cancer

Heft Neal, Molly E ME; Birkeland, Andrew C AC; Bhangale, Apurva D AD; Zhai, Jingyi J; Kulkarni, Aditi A; Foltin, Susan K SK; Jewell, Brittany M BM; Ludwig, Megan L ML; Pinatti, Lisa L; Jiang, Hui H; McHugh, Jonathan B JB; Marentette, Lawence L; McKean, Erin L EL; Brenner, J Chad JC

Publication Date: 2021-05-29

Variant appearance in text: rs17033

PubMed Link: 34051734

Variant Present in the following documents:

• 12885_2021_8370_MOESM15_ESM.xlsx, sheet 1

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Validation study of susceptibility loci for esophageal squamous cell carcinoma identified by GWAS in a Han Chinese subgroup from Eastern China.

Journal Of Cancer

Wang, Kai-Lai KL; Chen, Xiang-Liu XL; Lei, Lan L; Li, Pei P; Hong, Lian-Lian LL; Huang, Xian-Chong XC; Mao, Wei-Min WM; Mukaisho, Kenichi K; Ling, Zhi-Qiang ZQ

Publication Date: 2019

Variant appearance in text: rs17033

PubMed Link: 31333779

Variant Present in the following documents:

• Main text
• jcav10p3624.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: rs17033

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

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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: rs17033

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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A likely pathogenic variant putatively affecting splicing of PIGA identified in a multiple congenital anomalies hypotonia-seizures syndrome 2 (MCAHS2) family pedigree via whole-exome sequencing.

Molecular Genetics & Genomic Medicine

Yang, Junli J; Wang, Qiong Q; Zhuo, Qingcui Q; Tian, Huiling H; Li, Wen W; Luo, Fang F; Zhang, Jinghui J; Bi, Dan D; Peng, Jing J; Zhou, Dong D; Xin, Huawei H

Publication Date: 2018-09

Variant appearance in text: rs17033

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 6

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Polymorphisms in ADH1B and ALDH2 genes associated with the increased risk of gastric cancer in West Bengal, India.

Bmc Cancer

Ghosh, Sudakshina S; Bankura, Biswabandhu B; Ghosh, Soumee S; Saha, Makhan Lal ML; Pattanayak, Arup Kumar AK; Ghatak, Souvik S; Guha, Manalee M; Nachimuthu, Senthil Kumar SK; Panda, Chinmoy Kumar CK; Maji, Suvendu S; Chakraborty, Subrata S; Maity, Biswanath B; Das, Madhusudan M

Publication Date: 2017-11-22

Variant appearance in text: rs17033

PubMed Link: 29166882

Variant Present in the following documents:

• Main text
• 12885_2017_Article_3713.pdf

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A single-nucleotide polymorphism in the 3'-UTR region of the adipocyte fatty acid binding protein 4 gene is associated with prognosis of triple-negative breast cancer.

Oncotarget

Wang, Wenmiao W; Yuan, Peng P; Yu, Dianke D; Du, Feng F; Zhu, Anjie A; Li, Qing Q; Zhang, Pin P; Lin, Dongxin D; Xu, Binghe B

Publication Date: 2016-04-05

Variant appearance in text: rs17033

PubMed Link: 26959740

Variant Present in the following documents:

• Main text
• oncotarget-07-18984.pdf

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Association and ancestry analysis of sequence variants in ADH and ALDH using alcohol-related phenotypes in a Native American community sample.

American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics

Peng, Qian Q; Gizer, Ian R IR; Libiger, Ondrej O; Bizon, Chris C; Wilhelmsen, Kirk C KC; Schork, Nicholas J NJ; Ehlers, Cindy L CL

Publication Date: 2014-12

Variant appearance in text: rs17033

PubMed Link: 25270064

Variant Present in the following documents:

• Main text

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Replication study of ESCC susceptibility genetic polymorphisms locating in the ADH1B-ADH1C-ADH7 cluster identified by GWAS.

Plos One

Wang, Jiwen J; Wei, Jinyu J; Xu, Xiaoling X; Pan, Wenting W; Ge, Yunxia Y; Zhou, Changchun C; Liu, Chao C; Gao, Jia J; Yang, Ming M; Mao, Weimin W

Publication Date: 2014

Variant appearance in text: rs17033

PubMed Link: 24722735

Variant Present in the following documents:

• Main text
• pone.0094096.pdf

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ALDH2 and ADH1 genetic polymorphisms may contribute to the risk of gastric cancer: a meta-analysis.

Plos One

Wang, He-Ling HL; Zhou, Ping-Yi PY; Liu, Peng P; Zhang, Yu Y

Publication Date: 2014

Variant appearance in text: rs17033

PubMed Link: 24633362

Variant Present in the following documents:

• Main text
• pone.0088779.pdf

View BVdb publication page

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The case-only test for gene-environment interaction is not uniformly powerful: an empirical example.

Genetic Epidemiology

Wu, Chen C; Chang, Jiang J; Ma, Baoshan B; Miao, Xiaoping X; Zhou, Yifeng Y; Liu, Yu Y; Li, Yun Y; Wu, Tangchun T; Hu, Zhibin Z; Shen, Hongbing H; Jia, Weihua W; Zeng, Yixin Y; Lin, Dongxin D; Kraft, Peter P

Publication Date: 2013-05

Variant appearance in text: rs17033

PubMed Link: 23595356

Variant Present in the following documents:

• Main text

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Diversification of the ADH1B gene during expansion of modern humans.

Annals Of Human Genetics

Li, Hui H; Gu, Sheng S; Han, Yi Y; Xu, Zhi Z; Pakstis, Andrew J AJ; Jin, Li L; Kidd, Judith R JR; Kidd, Kenneth K KK

Publication Date: 2011-07

Variant appearance in text: rs17033

PubMed Link: 21592108

Variant Present in the following documents:

• Main text

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Haplotype-based study of the association of alcohol-metabolizing genes with alcohol dependence in four independent populations.

Alcoholism, Clinical And Experimental Research

Liu, Jixia J; Zhou, Zhifeng Z; Hodgkinson, Colin A CA; Yuan, Qiaoping Q; Shen, Pei-Hong PH; Mulligan, Connie J CJ; Wang, Alex A; Gray, Rebecca R RR; Roy, Alec A; Virkkunen, Matti M; Goldman, David D; Enoch, Mary-Anne MA

Publication Date: 2011-02

Variant appearance in text: rs17033

PubMed Link: 21083667

Variant Present in the following documents:

• Main text

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The ADH1B Arg47His polymorphism in east Asian populations and expansion of rice domestication in history.

Bmc Evolutionary Biology

Peng, Yi Y; Shi, Hong H; Qi, Xue-bin XB; Xiao, Chun-jie CJ; Zhong, Hua H; Ma, Run-lin Z RL; Su, Bing B

Publication Date: 2010-01-20

Variant appearance in text: rs17033

PubMed Link: 20089146

Variant Present in the following documents:

• Main text

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Associations and interactions between SNPs in the alcohol metabolizing genes and alcoholism phenotypes in European Americans.

Alcoholism, Clinical And Experimental Research

Sherva, Richard R; Rice, John P JP; Neuman, Rosalind J RJ; Rochberg, Nanette N; Saccone, Nancy L NL; Bierut, Laura J LJ

Publication Date: 2009-05

Variant appearance in text: rs17033

PubMed Link: 19298322

Variant Present in the following documents:

• Main text

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ADH single nucleotide polymorphism associations with alcohol metabolism in vivo.

Human Molecular Genetics

Birley, Andrew J AJ; James, Michael R MR; Dickson, Peter A PA; Montgomery, Grant W GW; Heath, Andrew C AC; Martin, Nicholas G NG; Whitfield, John B JB

Publication Date: 2009-04-15

Variant appearance in text: rs17033

PubMed Link: 19193628

Variant Present in the following documents:

• Main text

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Associations of ADH and ALDH2 gene variation with self report alcohol reactions, consumption and dependence: an integrated analysis.

Human Molecular Genetics

Macgregor, Stuart S; Lind, Penelope A PA; Bucholz, Kathleen K KK; Hansell, Narelle K NK; Madden, Pamela A F PA; Richter, Melinda M MM; Montgomery, Grant W GW; Martin, Nicholas G NG; Heath, Andrew C AC; Whitfield, John B JB

Publication Date: 2009-02-01

Variant appearance in text: rs17033

PubMed Link: 18996923

Variant Present in the following documents:

• Main text

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Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

American Journal Of Epidemiology

Chang, Man-Huei MH; Lindegren, Mary Lou ML; Butler, Mary A MA; Chanock, Stephen J SJ; Dowling, Nicole F NF; Gallagher, Margaret M; Moonesinghe, Ramal R; Moore, Cynthia A CA; Ned, Renée M RM; Reichler, Mary R MR; Sanders, Christopher L CL; Welch, Robert R; Yesupriya, Ajay A; Khoury, Muin J MJ; ,

Publication Date: 2009-01-01

Variant appearance in text: rs17033

PubMed Link: 18936436

Variant Present in the following documents:

• Main text

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Association of ADH and ALDH genes with alcohol dependence in the Irish Affected Sib Pair Study of alcohol dependence (IASPSAD) sample.

Alcoholism, Clinical And Experimental Research

Kuo, Po-Hsiu PH; Kalsi, Gursharan G; Prescott, Carol A CA; Hodgkinson, Colin A CA; Goldman, David D; van den Oord, Edwin J EJ; Alexander, Jeffry J; Jiang, Cizhong C; Sullivan, Patrick F PF; Patterson, Diana G DG; Walsh, Dermot D; Kendler, Kenneth S KS; Riley, Brien P BP

Publication Date: 2008-05

Variant appearance in text: rs17033

PubMed Link: 18331377

Variant Present in the following documents:

• Main text

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Association between common variation in 120 candidate genes and breast cancer risk.

Plos Genetics

Pharoah, Paul D P PD; Tyrer, Jonathan J; Dunning, Alison M AM; Easton, Douglas F DF; Ponder, Bruce A J BA; ,

Publication Date: 2007-03-16

Variant appearance in text: rs17033

PubMed Link: 17367212

Variant Present in the following documents:

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