Publications:

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Epidemiological evidence for associations between variants in CHRNA genes and risk of lung cancer and chronic obstructive pulmonary disease.

Frontiers In Oncology

Yang, Lei L; Yang, Zelin Z; Zuo, Chunjian C; Lv, Xiaolong X; Liu, Tianyu T; Jia, Chenhao C; Chen, Huanwen H

Publication Date: 2022

Variant appearance in text: rs3743073

PubMed Link: 36276121

Variant Present in the following documents:

• Main text
• DataSheet_1.pdf
• fonc-12-1001864.pdf

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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

Publication Date: 2022-10-14

Variant appearance in text: rs3743073

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2

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A genomic deletion encompassing CRYBB2-CRYBB2P1 is responsible for autosomal recessive congenital cataracts.

Human Genome Variation

Irum, Bushra B; Kabir, Firoz F; Shoshany, Nadav N; Khan, Shahid Y SY; Rauf, Bushra B; Naeem, Muhammad Asif MA; Qaiser, Tanveer A TA; Riazuddin, Sheikh S; Hejtmancik, J Fielding JF; Riazuddin, S Amer SA

Publication Date: 2022-09-08

Variant appearance in text: rs3743073

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM4_ESM.xlsx, sheet 2

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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: CHRNA3: 268-64C>A; rs3743073

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

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The relationship between CHRNA5/A3/B4 gene cluster polymorphisms and lung cancer risk: An updated meta-analysis and systematic review.

Medicine

Yi, Xingxu X; Li, Wanzhen W; Wang, Yiyuan Y; Chen, Xueran X; Ye, Fang F; Sun, Gengyun G; Chen, Jingxian J

Publication Date: 2021-02-12

Variant appearance in text: rs3743073

PubMed Link: 33578531

Variant Present in the following documents:

• Main text
• medi-100-e24355.pdf

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Chronic Obstructive Pulmonary Disease Risk and Smoking Cessation Changes Induced by CHRNA5-A3 and CHRNB3-A6 Variation in a Chinese Male Population.

Balkan Journal Of Medical Genetics : Bjmg

Zhao, L L; Zou, L-Y LY; Cheng, B-F BF; Yu, X-J XJ; Zou, J-H JH; Han, W W

Publication Date: 2019-12

Variant appearance in text: rs3743073

PubMed Link: 31942417

Variant Present in the following documents:

• Main text
• bjmg-22-051.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: CHRNA3: 268-64C>A; rs3743073

PubMed Link: 30319441

Variant Present in the following documents:

• Table_6.xlsx, sheet 1
• Table_5.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: rs3743073

PubMed Link: 30214008

Variant Present in the following documents:

• NIHMS1503453-supplement-3.xlsx, sheet 1

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Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Scientific Reports

Wang, Junjun J; Liu, Qingyun Q; Yuan, Shuai S; Xie, Weijia W; Liu, Yuan Y; Xiang, Ying Y; Wu, Na N; Wu, Long L; Ma, Xiangyu X; Cai, Tongjian T; Zhang, Yao Y; Sun, Zhifu Z; Li, Yafei Y

Publication Date: 2017-08-21

Variant appearance in text: rs3743073

PubMed Link: 28827732

Variant Present in the following documents:

• 41598_2017_7737_MOESM1_ESM.pdf

View BVdb publication page

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DiMeX: A Text Mining System for Mutation-Disease Association Extraction.

Plos One

Mahmood, A S M Ashique AS; Wu, Tsung-Jung TJ; Mazumder, Raja R; Vijay-Shanker, K K

Publication Date: 2016

Variant appearance in text: rs3743073

PubMed Link: 27073839

Variant Present in the following documents:

• pone.0152725.s001.xlsx, sheet 1

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Genetic variants of CHRNA5-A3 and CHRNB3-A6 predict survival of patients with advanced non-small cell lung cancer.

Oncotarget

Wang, Yang Y; Peng, Xiaonu X; Zhu, Lijun L; Hu, Likuan L; Song, Yipeng Y

Publication Date: 2016-05-03

Variant appearance in text: rs3743073

PubMed Link: 27050379

Variant Present in the following documents:

• Main text
• oncotarget-07-26436.pdf

View BVdb publication page

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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: rs3743073

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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Deep Sequencing of Three Loci Implicated in Large-Scale Genome-Wide Association Study Smoking Meta-Analyses.

Nicotine & Tobacco Research : Official Journal Of The Society For Research On Nicotine And Tobacco

Clark, Shaunna L SL; McClay, Joseph L JL; Adkins, Daniel E DE; Aberg, Karolina A KA; Kumar, Gaurav G; Nerella, Sri S; Xie, Linying L; Collins, Ann L AL; Crowley, James J JJ; Quakenbush, Corey R CR; Hillard, Christopher E CE; Gao, Guimin G; Shabalin, Andrey A AA; Peterson, Roseann E RE; Copeland, William E WE; Silberg, Judy L JL; Maes, Hermine H; Sullivan, Patrick F PF; Costello, Elizabeth J EJ; van den Oord, Edwin J EJ

Publication Date: 2016-05

Variant appearance in text: rs3743073

PubMed Link: 26283763

Variant Present in the following documents:

• Main text

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Acetylcholine receptor pathway in lung cancer: New twists to an old story.

World Journal Of Clinical Oncology

Niu, Xiao-Min XM; Lu, Shun S

Publication Date: 2014-10-10

Variant appearance in text: rs3743073

PubMed Link: 25302169

Variant Present in the following documents:

• Main text

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Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis.

The Lancet. Respiratory Medicine

Cho, Michael H MH; McDonald, Merry-Lynn N ML; Zhou, Xiaobo X; Mattheisen, Manuel M; Castaldi, Peter J PJ; Hersh, Craig P CP; Demeo, Dawn L DL; Sylvia, Jody S JS; Ziniti, John J; Laird, Nan M NM; Lange, Christoph C; Litonjua, Augusto A AA; Sparrow, David D; Casaburi, Richard R; Barr, R Graham RG; Regan, Elizabeth A EA; Make, Barry J BJ; Hokanson, John E JE; Lutz, Sharon S; Dudenkov, Tanda Murray TM; Farzadegan, Homayoon H; Hetmanski, Jacqueline B JB; Tal-Singer, Ruth R; Lomas, David A DA; Bakke, Per P; Gulsvik, Amund A; Crapo, James D JD; Silverman, Edwin K EK; Beaty, Terri H TH; ,

Publication Date: 2014-03

Variant appearance in text: rs3743073

PubMed Link: 24621683

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of CHRNA5-A3-B4 variation with esophageal squamous cell carcinoma risk and smoking behaviors in a Chinese population.

Plos One

Wang, Yang Y; Wu, Haijian H; Liu, Qiji Q; Wang, Cuihong C; Fu, Lei L; Wang, Han H; Zhu, Wenjie W; Fu, Weijiang W; Lv, Yajuan Y; Wang, Shikun S; Hu, Likuan L

Publication Date: 2013

Variant appearance in text: rs3743073

PubMed Link: 23844051

Variant Present in the following documents:

• Main text
• pone.0067664.pdf

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Polymorphisms of CHRNA5-CHRNA3-CHRNB4 Gene Cluster and NSCLC Risk in Chinese Population.

Translational Oncology

Li, Zhijun Z; Bao, Suzhen S; Xu, Xiaohong X; Bao, Yejiang Y; Zhang, Yongjun Y

Publication Date: 2012-12

Variant appearance in text: rs3743073

PubMed Link: 23397474

Variant Present in the following documents:

• Main text

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New associations of the genetic polymorphisms in nicotinic receptor genes with the risk of lung cancer.

Life Sciences

Chikova, Anna A; Bernard, Hans-Ulrich HU; Shchepotin, Igor B IB; Grando, Sergei A SA

Publication Date: 2012-11-27

Variant appearance in text: rs3743073

PubMed Link: 22280835

Variant Present in the following documents:

• Main text

View BVdb publication page

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Gender-stratified gene and gene-treatment interactions in smoking cessation.

The Pharmacogenomics Journal

Lee, W W; Bergen, A W AW; Swan, G E GE; Li, D D; Liu, J J; Thomas, P P; Tyndale, R F RF; Benowitz, N L NL; Lerman, C C; Conti, D V DV

Publication Date: 2012-12

Variant appearance in text: rs3743073

PubMed Link: 21808284

Variant Present in the following documents:

• NIHMS305090-supplement-3.pdf

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Variants in nicotinic receptors and risk for nicotine dependence.

The American Journal Of Psychiatry

Bierut, Laura Jean LJ; Stitzel, Jerry A JA; Wang, Jen C JC; Hinrichs, Anthony L AL; Grucza, Richard A RA; Xuei, Xiaoling X; Saccone, Nancy L NL; Saccone, Scott F SF; Bertelsen, Sarah S; Fox, Louis L; Horton, William J WJ; Breslau, Naomi N; Budde, John J; Cloninger, C Robert CR; Dick, Danielle M DM; Foroud, Tatiana T; Hatsukami, Dorothy D; Hesselbrock, Victor V; Johnson, Eric O EO; Kramer, John J; Kuperman, Samuel S; Madden, Pamela A F PA; Mayo, Kevin K; Nurnberger, John J; Pomerleau, Ovide O; Porjesz, Bernice B; Reyes, Oliver O; Schuckit, Marc M; Swan, Gary G; Tischfield, Jay A JA; Edenberg, Howard J HJ; Rice, John P JP; Goate, Alison M AM

Publication Date: 2008-09

Variant appearance in text: rs3743073

PubMed Link: 18519524

Variant Present in the following documents:

• Main text

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Genetic variation in the CHRNA5 gene affects mRNA levels and is associated with risk for alcohol dependence.

Molecular Psychiatry

Wang, J C JC; Grucza, R R; Cruchaga, C C; Hinrichs, A L AL; Bertelsen, S S; Budde, J P JP; Fox, L L; Goldstein, E E; Reyes, O O; Saccone, N N; Saccone, S S; Xuei, X X; Bucholz, K K; Kuperman, S S; Nurnberger, J J; Rice, J P JP; Schuckit, M M; Tischfield, J J; Hesselbrock, V V; Porjesz, B B; Edenberg, H J HJ; Bierut, L J LJ; Goate, A M AM

Publication Date: 2009-05

Variant appearance in text: rs3743073

PubMed Link: 18414406

Variant Present in the following documents:

• Main text

View BVdb publication page

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Identification of pharmacogenetic markers in smoking cessation therapy.

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

Heitjan, Daniel F DF; Guo, Mengye M; Ray, Riju R; Wileyto, E Paul EP; Epstein, Leonard H LH; Lerman, Caryn C

Publication Date: 2008-09-05

Variant appearance in text: rs3743073

PubMed Link: 18165968

Variant Present in the following documents:

• Main text

View BVdb publication page

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