Publications:

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Comprehensive proteogenomic characterization of early duodenal cancer reveals the carcinogenesis tracks of different subtypes.

Nature Communications

Li, Lingling L; Jiang, Dongxian D; Liu, Hui H; Guo, Chunmei C; Zhao, Rui R; Zhang, Qiao Q; Xu, Chen C; Qin, Zhaoyu Z; Feng, Jinwen J; Liu, Yang Y; Wang, Haixing H; Chen, Weijie W; Zhang, Xue X; Li, Bin B; Bai, Lin L; Tian, Sha S; Tan, Subei S; Yu, Zixiang Z; Chen, Lingli L; Huang, Jie J; Zhao, Jian-Yuan JY; Hou, Yingyong Y; Ding, Chen C

Publication Date: 2023-03-29

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 36991000

Variant Present in the following documents:

• 41467_2023_37221_MOESM5_ESM.xlsx, sheet 3

View BVdb publication page

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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: rs13180

PubMed Link: 36467812

Variant Present in the following documents:

• JHA2-3-1326-s001.xlsx, sheet 1

View BVdb publication page

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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: IREB2: A872A

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM10_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM6_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM11_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM3_ESM.xlsx, sheet 2

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SMAD4 rs10502913 is Significantly Associated with Chronic Obstructive Pulmonary Disease in a Chinese Han Population: A Case-Control Study.

International Journal Of Chronic Obstructive Pulmonary Disease

Hou, Zhifei Z; Yuan, Zhihui Z; Wang, Hao H; Chang, Kang K; Gao, Yong Y

Publication Date: 2022

Variant appearance in text: rs13180

PubMed Link: 35898699

Variant Present in the following documents:

• Main text
• copd-17-1623.pdf

View BVdb publication page

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Neoadjuvant PD-1 Blockade Combined With Chemotherapy Followed by Concurrent Immunoradiotherapy in Locally Advanced Anal Canal Squamous Cell Carcinoma Patients: Antitumor Efficacy, Safety and Biomarker Analysis.

Frontiers In Immunology

Xiao, WeiWei W; Yuan, Yan Y; Wang, SuiHai S; Liao, Zhidong Z; Cai, PeiQiang P; Chen, BaoQing B; Zhang, Rong R; Wang, Fang F; Zeng, ZhiFan Z; Gao, YuanHong Y

Publication Date: 2021

Variant appearance in text: IREB2: A872A

PubMed Link: 35095878

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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White Matter Integrity and Nicotine Dependence: Evaluating Vertical and Horizontal Pleiotropy.

Frontiers In Neuroscience

Ye, Zhenyao Z; Mo, Chen C; Liu, Song S; Hatch, Kathryn S KS; Gao, Si S; Ma, Yizhou Y; Hong, L Elliot LE; Thompson, Paul M PM; Jahanshad, Neda N; Acheson, Ashley A; Garavan, Hugh H; Shen, Li L; Nichols, Thomas E TE; Kochunov, Peter P; Chen, Shuo S; Ma, Tianzhou T

Publication Date: 2021

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 34720862

Variant Present in the following documents:

• Table_5.xlsx, sheet 1

View BVdb publication page

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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: IREB2: 2616C>T; A872A; rs13180

PubMed Link: 34054912

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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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: IREB2: A872A; rs13180

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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Integrated genetic and metabolic landscapes predict vulnerabilities of temozolomide resistant glioblastoma cells.

Npj Systems Biology And Applications

Immanuel, Selva Rupa Christinal SRC; Ghanate, Avinash D AD; Parmar, Dharmeshkumar S DS; Yadav, Ritu R; Uthup, Riya R; Panchagnula, Venkateswarlu V; Raghunathan, Anu A

Publication Date: 2021-01-08

Variant appearance in text: IREB2: 2616C>T; A872A; rs13180

PubMed Link: 33420045

Variant Present in the following documents:

• 41540_2020_161_MOESM3_ESM.xlsx, sheet 3
• 41540_2020_161_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Different Associations Between the IREB2 Variants and Chronic Obstructive Pulmonary Disease Susceptibility.

Frontiers In Genetics

Zeng, Qiaoli Q; Chen, Qikang Q; Zou, Dehua D; Guo, Runmin R; Xiao, Dawei D; Jiang, Shaohu S; Chen, Riling R; Wang, Yajun Y; Ma, Guoda G

Publication Date: 2020

Variant appearance in text: rs13180

PubMed Link: 33304392

Variant Present in the following documents:

• Main text
• fgene-11-598053.pdf

View BVdb publication page

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Identification of a nonsense mutation in TNNI3K associated with cardiac conduction disease.

Journal Of Clinical Laboratory Analysis

Liu, Jiang J; Liu, Da D; Li, Muzheng M; Wu, Keke K; Liu, Na N; Zhao, Chenyu C; Shi, Xiaoliu X; Liu, Qiming Q

Publication Date: 2020-09

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 32529721

Variant Present in the following documents:

• JCLA-34-e23418-s003.xls, sheet 1

View BVdb publication page

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Multi-level evidence of an allelic hierarchy of USH2A variants in hearing, auditory processing and speech/language outcomes.

Communications Biology

Perrino, Peter A PA; Talbot, Lidiya L; Kirkland, Rose R; Hill, Amanda A; Rendall, Amanda R AR; Mountford, Hayley S HS; Taylor, Jenny J; , ; Buscarello, Alexzandrea N AN; Lahiri, Nayana N; Saggar, Anand A; Fitch, R Holly RH; Newbury, Dianne F DF

Publication Date: 2020-04-20

Variant appearance in text: rs13180

PubMed Link: 32313182

Variant Present in the following documents:

• 42003_2020_885_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Scientific Reports

Skowron, Margaretha A MA; Petzsch, Patrick P; Hardt, Karin K; Wagner, Nicholas N; Beier, Manfred M; Stepanow, Stefanie S; Drechsler, Matthias M; Rieder, Harald H; Köhrer, Karl K; Niegisch, Günter G; Hoffmann, Michèle J MJ; Schulz, Wolfgang A WA

Publication Date: 2019-10-09

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM9_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM8_ESM.xlsx, sheet 1

View BVdb publication page

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Bivariate logistic Bayesian LASSO for detecting rare haplotype association with two correlated phenotypes.

Genetic Epidemiology

Yuan, Xiaochen X; Biswas, Swati S

Publication Date: 2019-12

Variant appearance in text: rs13180

PubMed Link: 31544985

Variant Present in the following documents:

• Main text

View BVdb publication page

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Comparison of haplotype-based tests for detecting gene-environment interactions with rare variants.

Briefings In Bioinformatics

Papachristou, Charalampos C; Biswas, Swati S

Publication Date: 2020-05-21

Variant appearance in text: rs13180

PubMed Link: 31329820

Variant Present in the following documents:

• Main text

View BVdb publication page

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The etiologic origins for chronic obstructive pulmonary disease.

International Journal Of Chronic Obstructive Pulmonary Disease

Huang, Xinwei X; Mu, Xi X; Deng, Li L; Fu, Aili A; Pu, Endong E; Tang, Tao T; Kong, Xiangyang X

Publication Date: 2019

Variant appearance in text: rs13180

PubMed Link: 31213794

Variant Present in the following documents:

• Main text
• copd-14-1139.pdf

View BVdb publication page

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A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: IREB2: 2616C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Receptor for advanced glycation end-products and environmental exposure related obstructive airways disease: a systematic review.

European Respiratory Review : An Official Journal Of The European Respiratory Society

Haider, Syed H SH; Oskuei, Assad A; Crowley, George G; Kwon, Sophia S; Lam, Rachel R; Riggs, Jessica J; Mikhail, Mena M; Talusan, Angela A; Veerappan, Arul A; Kim, James S JS; Caraher, Erin J EJ; Nolan, Anna A

Publication Date: 2019-03-31

Variant appearance in text: rs13180

PubMed Link: 30918021

Variant Present in the following documents:

• ERR-0096-2018.tableS5.pdf
• ERR-0096-2018.tableS4.pdf

View BVdb publication page

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Genetic Advances in Chronic Obstructive Pulmonary Disease. Insights from COPDGene.

American Journal Of Respiratory And Critical Care Medicine

Ragland, Margaret F MF; Benway, Christopher J CJ; Lutz, Sharon M SM; Bowler, Russell P RP; Hecker, Julian J; Hokanson, John E JE; Crapo, James D JD; Castaldi, Peter J PJ; DeMeo, Dawn L DL; Hersh, Craig P CP; Hobbs, Brian D BD; Lange, Christoph C; Beaty, Terri H TH; Cho, Michael H MH; Silverman, Edwin K EK

Publication Date: 2019-09-15

Variant appearance in text: rs13180

PubMed Link: 30908940

Variant Present in the following documents:

• Main text

View BVdb publication page

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Multiple genetic mutations caused by NKX6.3 depletion contribute to gastric tumorigenesis.

Scientific Reports

Yoon, Jung Hwan JH; Kim, Olga O; Eun, Jung Woo JW; Choi, Sung Sook SS; Ashktorab, Hassan H; Smoot, Duane T DT; Nam, Suk Woo SW; Park, Won Sang WS

Publication Date: 2018-12-04

Variant appearance in text: rs13180

PubMed Link: 30514953

Variant Present in the following documents:

• 41598_2018_35733_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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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: IREB2: 2616C>T; rs13180

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1

View BVdb publication page

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Smoking-induced iron dysregulation in the lung.

Free Radical Biology & Medicine

Zhang, William Z WZ; Butler, James J JJ; Cloonan, Suzanne M SM

Publication Date: 2019-03

Variant appearance in text: rs13180

PubMed Link: 30075191

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variants in FAM13A and IREB2 are associated with the susceptibility to COPD in a Chinese rural population: a case-control study.

International Journal Of Chronic Obstructive Pulmonary Disease

Zhang, Yanan Y; Qiu, Jie J; Zhang, Peng P; Zhang, Jin J; Jiang, Min M; Ma, Zhanbing Z

Publication Date: 2018

Variant appearance in text: rs13180

PubMed Link: 29872291

Variant Present in the following documents:

• Main text
• copd-13-1735.pdf

View BVdb publication page

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A Phenome-Wide Association Study Uncovers a Role for Autoimmunity in the Development of Chronic Obstructive Pulmonary Disease.

American Journal Of Respiratory Cell And Molecular Biology

Ji, Xiangming X; Niu, Xinnan X; Qian, Jun J; Martucci, Victoria V; Pendergrass, Sarah A SA; Gorlov, Ivan P IP; Amos, Christopher I CI; Denny, Joshua C JC; Massion, Pierre P PP; Aldrich, Melinda C MC

Publication Date: 2018-06

Variant appearance in text: rs13180

PubMed Link: 29856256

Variant Present in the following documents:

• Main text

View BVdb publication page

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Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics.

European Journal Of Human Genetics : Ejhg

Nedeljkovic, Ivana I; Carnero-Montoro, Elena E; Lahousse, Lies L; van der Plaat, Diana A DA; de Jong, Kim K; Vonk, Judith M JM; van Diemen, Cleo C CC; Faiz, Alen A; van den Berge, Maarten M; Obeidat, Ma'en M; Bossé, Yohan Y; Nickle, David C DC; Consortium, Bios B; Uitterlinden, Andre G AG; van Meurs, Joyce J B JJB; Stricker, Bruno C H BCH; Brusselle, Guy G GG; Postma, Dirkje S DS; Boezen, H Marike HM; van Duijn, Cornelia M CM; Amin, Najaf N

Publication Date: 2018-05

Variant appearance in text: rs13180

PubMed Link: 29422661

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis prioritises functional single nucleotide variants in cancer samples.

Oncotarget

Ma, Shiyong S; Menon, Ranjeeta R; Poulos, Rebecca C RC; Wong, Jason W H JWH

Publication Date: 2017-11-10

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 29221171

Variant Present in the following documents:

• oncotarget-08-95841-s002.xlsx, sheet 1
• oncotarget-08-95841-s002.xlsx, sheet 4

View BVdb publication page

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Chronic Obstructive Pulmonary Disease Genetics: A Review of the Past and a Look Into the Future.

Chronic Obstructive Pulmonary Diseases (Miami, Fla.)

Hardin, Megan M; Silverman, Edwin K EK

Publication Date: 2014-05-06

Variant appearance in text: rs13180

PubMed Link: 28848809

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: rs13180

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

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Identification of EML4-ALK as an alternative fusion gene in epithelioid inflammatory myofibroblastic sarcoma.

Orphanet Journal Of Rare Diseases

Jiang, Quan Q; Tong, Han-Xing HX; Hou, Ying-Yong YY; Zhang, Yong Y; Li, Jing-Lei JL; Zhou, Yu-Hong YH; Xu, Jing J; Wang, Jiong-Yuan JY; Lu, Wei-Qi WQ

Publication Date: 2017-05-23

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 28535796

Variant Present in the following documents:

• 13023_2017_647_MOESM1_ESM.xlsx, sheet 4

View BVdb publication page

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IREB2, CHRNA5, CHRNA3, FAM13A & hedgehog interacting protein genes polymorphisms & risk of chronic obstructive pulmonary disease in Tatar population from Russia.

The Indian Journal Of Medical Research

Korytina, Gulnaz Faritovna GF; Akhmadishina, Leysan Zinurovna LZ; Viktorova, Elena Vitalievna EV; Kochetova, Olga Vladimirovna OV; Viktorova, Tatyana Victorovna TV

Publication Date: 2016-12

Variant appearance in text: rs13180

PubMed Link: 28474623

Variant Present in the following documents:

• Main text
• IJMR-144-865.pdf

View BVdb publication page

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Genetic variation in the exome: Associations with alcohol and tobacco co-use.

Psychology Of Addictive Behaviors : Journal Of The Society Of Psychologists In Addictive Behaviors

Otto, Jacqueline M JM; Gizer, Ian R IR; Ellingson, Jarrod M JM; Wilhelmsen, Kirk C KC

Publication Date: 2017-05

Variant appearance in text: rs13180

PubMed Link: 28368157

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic susceptibility variants for lung cancer: replication study and assessment as expression quantitative trait loci.

Scientific Reports

Pintarelli, Giulia G; Cotroneo, Chiara Elisabetta CE; Noci, Sara S; Dugo, Matteo M; Galvan, Antonella A; Delli Carpini, Simona S; Citterio, Lorena L; Manunta, Paolo P; Incarbone, Matteo M; Tosi, Davide D; Santambrogio, Luigi L; Dragani, Tommaso A TA; Colombo, Francesca F

Publication Date: 2017-02-09

Variant appearance in text: rs13180

PubMed Link: 28181565

Variant Present in the following documents:

• Main text
• srep42185.pdf

View BVdb publication page

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Conditionally reprogrammed normal and primary tumor prostate epithelial cells: a novel patient-derived cell model for studies of human prostate cancer.

Oncotarget

Timofeeva, Olga A OA; Palechor-Ceron, Nancy N; Li, Guanglei G; Yuan, Hang H; Krawczyk, Ewa E; Zhong, Xiaogang X; Liu, Geng G; Upadhyay, Geeta G; Dakic, Aleksandra A; Yu, Songtao S; Fang, Shuang S; Choudhury, Sujata S; Zhang, Xueping X; Ju, Andrew A; Lee, Myeong-Seon MS; Dan, Han C HC; Ji, Youngmi Y; Hou, Yong Y; Zheng, Yun-Ling YL; Albanese, Chris C; Rhim, Johng J; Schlegel, Richard R; Dritschilo, Anatoly A; Liu, Xuefeng X

Publication Date: 2017-04-04

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 28009986

Variant Present in the following documents:

• oncotarget-08-22741-s003.xlsx, sheet 2
• oncotarget-08-22741-s003.xlsx, sheet 1

View BVdb publication page

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Detecting rare and common haplotype-environment interaction under uncertainty of gene-environment independence assumption.

Biometrics

Zhang, Yuan Y; Lin, Shili S; Biswas, Swati S

Publication Date: 2017-03

Variant appearance in text: rs13180

PubMed Link: 27478935

Variant Present in the following documents:

• Main text

View BVdb publication page

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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

Publication Date: 2016-07

Variant appearance in text: rs13180

PubMed Link: 27437086

Variant Present in the following documents:

• Main text
• tr-32-195.pdf

View BVdb publication page

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The role of iron in pulmonary pathology.

Multidisciplinary Respiratory Medicine

Khiroya, Heena H; Turner, Alice M AM

Publication Date: 2015

Variant appearance in text: rs13180

PubMed Link: 26629341

Variant Present in the following documents:

• Main text
• 40248_2015_Article_31.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: IREB2: A872A; rs13180

PubMed Link: 26549847

Variant Present in the following documents:

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

View BVdb publication page

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Lung Cancer Risk Prediction Using Common SNPs Located in GWAS-Identified Susceptibility Regions.

Journal Of Thoracic Oncology : Official Publication Of The International Association For The Study Of Lung Cancer

Weissfeld, Joel L JL; Lin, Yan Y; Lin, Hui-Min HM; Kurland, Brenda F BF; Wilson, David O DO; Fuhrman, Carl R CR; Pennathur, Arjun A; Romkes, Marjorie M; Nukui, Tomoko T; Yuan, Jian-Min JM; Siegfried, Jill M JM; Diergaarde, Brenda B

Publication Date: 2015-11

Variant appearance in text: rs13180

PubMed Link: 26352532

Variant Present in the following documents:

• Main text

View BVdb publication page

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Susceptibility loci in lung cancer and COPD: association of IREB2 and FAM13A with pulmonary diseases.

Scientific Reports

Ziółkowska-Suchanek, Iwona I; Mosor, Maria M; Gabryel, Piotr P; Grabicki, Marcin M; Żurawek, Magdalena M; Fichna, Marta M; Strauss, Ewa E; Batura-Gabryel, Halina H; Dyszkiewicz, Wojciech W; Nowak, Jerzy J

Publication Date: 2015-08-27

Variant appearance in text: rs13180

PubMed Link: 26310313

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel aspects of pathogenesis and regeneration mechanisms in COPD.

International Journal Of Chronic Obstructive Pulmonary Disease

Bagdonas, Edvardas E; Raudoniute, Jovile J; Bruzauskaite, Ieva I; Aldonyte, Ruta R

Publication Date: 2015

Variant appearance in text: rs13180

PubMed Link: 26082624

Variant Present in the following documents:

• Main text

View BVdb publication page

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Proteogenomic analysis reveals exosomes are more oncogenic than ectosomes.

Oncotarget

Keerthikumar, Shivakumar S; Gangoda, Lahiru L; Liem, Michael M; Fonseka, Pamali P; Atukorala, Ishara I; Ozcitti, Cemil C; Mechler, Adam A; Adda, Christopher G CG; Ang, Ching-Seng CS; Mathivanan, Suresh S

Publication Date: 2015-06-20

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 25944692

Variant Present in the following documents:

• oncotarget-06-15375-s005.xlsx, sheet 2

View BVdb publication page

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Gene susceptibility identification in a longitudinal study confirms new loci in the development of chronic obstructive pulmonary disease and influences lung function decline.

Respiratory Research

Xie, Jungang J; Wu, Hongxu H; Xu, Yuzhu Y; Wu, Xiaojie X; Liu, Xue X; Shang, Jin J; Zhao, Jianping J; Zhao, Junling J; Wang, Jianmiao J; Dela Cruz, Charles S CS; Xiong, Weining W; Xu, Yongjian Y

Publication Date: 2015-04-18

Variant appearance in text: rs13180

PubMed Link: 25928290

Variant Present in the following documents:

• Main text

View BVdb publication page

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Association of genetic polymorphisms with chronic obstructive pulmonary disease in the Hainan population: a case-control study.

International Journal Of Chronic Obstructive Pulmonary Disease

Ding, Yipeng Y; Yang, Danlei D; Xun, Xiaojie X; Wang, Zhifeng Z; Sun, Pei P; Xu, Dongchuan D; He, Ping P; Niu, Huan H; Jin, Tianbo T

Publication Date: 2015

Variant appearance in text: rs13180

PubMed Link: 25565795

Variant Present in the following documents:

• Main text
• copd-10-007.pdf

View BVdb publication page

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Whole exome sequencing of a single osteosarcoma case--integrative analysis with whole transcriptome RNA-seq data.

Human Genomics

Reimann, Ene E; Kõks, Sulev S; Ho, Xuan Dung XD; Maasalu, Katre K; Märtson, Aare A

Publication Date: 2014-12-11

Variant appearance in text: IREB2: A872A

PubMed Link: 25496518

Variant Present in the following documents:

• 40246_2014_20_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Exome sequencing is an efficient tool for variant late-infantile neuronal ceroid lipofuscinosis molecular diagnosis.

Plos One

Patiño, Liliana Catherine LC; Battu, Rajani R; Ortega-Recalde, Oscar O; Nallathambi, Jeyabalan J; Anandula, Venkata Ramana VR; Renukaradhya, Umashankar U; Laissue, Paul P

Publication Date: 2014

Variant appearance in text: IREB2: A872A

PubMed Link: 25333361

Variant Present in the following documents:

• pone.0109576.s001.xls, sheet 3

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Epidemiology, genetics, and subtyping of preserved ratio impaired spirometry (PRISm) in COPDGene.

Respiratory Research

Wan, Emily S ES; Castaldi, Peter J PJ; Cho, Michael H MH; Hokanson, John E JE; Regan, Elizabeth A EA; Make, Barry J BJ; Beaty, Terri H TH; Han, MeiLan K MK; Curtis, Jeffrey L JL; Curran-Everett, Douglas D; Lynch, David A DA; DeMeo, Dawn L DL; Crapo, James D JD; Silverman, Edwin K EK; ,

Publication Date: 2014-08-06

Variant appearance in text: rs13180

PubMed Link: 25096860

Variant Present in the following documents:

• 12931_2014_89_MOESM1_ESM.pdf

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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: rs13180

PubMed Link: 24621683

Variant Present in the following documents:

• Main text

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Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Febs Open Bio

Szeto, Carol Ying-Ying CY; Lin, Chi Ho CH; Choi, Siu Chung SC; Yip, Timothy T C TT; Ngan, Roger Kai-Cheong RK; Tsao, George Sai-Wah GS; Li Lung, Maria M

Publication Date: 2014

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 24490137

Variant Present in the following documents:

• mmc5.xlsx, sheet 2

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Effect of a poly(ADP-ribose) polymerase-1 inhibitor against esophageal squamous cell carcinoma cell lines.

Cancer Science

Nasuno, Tomomitsu T; Mimaki, Sachiyo S; Okamoto, Makito M; Esumi, Hiroyasu H; Tsuchihara, Katsuya K

Publication Date: 2014-02

Variant appearance in text: IREB2: A872A; rs13180

PubMed Link: 24219164

Variant Present in the following documents:

• cas0105-0202-SD2.xlsx, sheet 1

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Heritability of chronic obstructive pulmonary disease and related phenotypes in smokers.

American Journal Of Respiratory And Critical Care Medicine

Zhou, Jin J JJ; Cho, Michael H MH; Castaldi, Peter J PJ; Hersh, Craig P CP; Silverman, Edwin K EK; Laird, Nan M NM

Publication Date: 2013-10-15

Variant appearance in text: rs13180

PubMed Link: 23972146

Variant Present in the following documents:

• Main text

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Exploring genome-wide - dietary heme iron intake interactions and the risk of type 2 diabetes.

Frontiers In Genetics

Pasquale, Louis R LR; Loomis, Stephanie J SJ; Aschard, Hugues H; Kang, Jae H JH; Cornelis, Marilyn C MC; Qi, Lu L; Kraft, Peter P; Hu, Frank B FB

Publication Date: 2013

Variant appearance in text: rs13180

PubMed Link: 23386860

Variant Present in the following documents:

• Main text

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Genome-wide haplotype analysis of cis expression quantitative trait loci in monocytes.

Plos Genetics

Garnier, Sophie S; Truong, Vinh V; Brocheton, Jessy J; Zeller, Tanja T; Rovital, Maxime M; Wild, Philipp S PS; Ziegler, Andreas A; , ; Munzel, Thomas T; Tiret, Laurence L; Blankenberg, Stefan S; Deloukas, Panos P; Erdmann, Jeannette J; Hengstenberg, Christian C; Samani, Nilesh J NJ; Schunkert, Heribert H; Ouwehand, Willem H WH; Goodall, Alison H AH; Cambien, François F; Trégouët, David-Alexandre DA

Publication Date: 2013

Variant appearance in text: rs13180

PubMed Link: 23382694

Variant Present in the following documents:

• Main text

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Dissecting direct and indirect genetic effects on chronic obstructive pulmonary disease (COPD) susceptibility.

Human Genetics

Siedlinski, Mateusz M; Tingley, Dustin D; Lipman, Peter J PJ; Cho, Michael H MH; Litonjua, Augusto A AA; Sparrow, David D; Bakke, Per P; Gulsvik, Amund A; Lomas, David A DA; Anderson, Wayne W; Kong, Xiangyang X; Rennard, Stephen I SI; Beaty, Terri H TH; Hokanson, John E JE; Crapo, James D JD; Lange, Christoph C; Silverman, Edwin K EK; ,

Publication Date: 2013-04

Variant appearance in text: rs13180

PubMed Link: 23299987

Variant Present in the following documents:

• Main text

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Updates on the COPD gene list.

International Journal Of Chronic Obstructive Pulmonary Disease

Bossé, Yohan Y

Publication Date: 2012

Variant appearance in text: rs13180

PubMed Link: 23055711

Variant Present in the following documents:

• Main text
• copd-7-607.pdf

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CHRNA3/5, IREB2, and ADCY2 are associated with severe chronic obstructive pulmonary disease in Poland.

American Journal Of Respiratory Cell And Molecular Biology

Hardin, Megan M; Zielinski, Jan J; Wan, Emily S ES; Hersh, Craig P CP; Castaldi, Peter J PJ; Schwinder, Eric E; Hawrylkiewicz, Iwona I; Sliwinski, Pawel P; Cho, Michael H MH; Silverman, Edwin K EK

Publication Date: 2012-08

Variant appearance in text: rs13180

PubMed Link: 22461431

Variant Present in the following documents:

• Main text

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Association of IREB2 and CHRNA3 polymorphisms with airflow obstruction in severe alpha-1 antitrypsin deficiency.

Respiratory Research

Kim, Woo Jin WJ; Wood, Alice M AM; Barker, Alan F AF; Brantly, Mark L ML; Campbell, Edward J EJ; Eden, Edward E; McElvaney, Gerard G; Rennard, Stephen I SI; Sandhaus, Robert A RA; Stocks, James M JM; Stoller, James K JK; Strange, Charlie C; Turino, Gerard G; Silverman, Edwin K EK; Stockley, Robert A RA; Demeo, Dawn L DL

Publication Date: 2012-02-22

Variant appearance in text: rs13180

PubMed Link: 22356581

Variant Present in the following documents:

• Main text

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A flexible Bayesian model for studying gene-environment interaction.

Plos Genetics

Yu, Kai K; Wacholder, Sholom S; Wheeler, William W; Wang, Zhaoming Z; Caporaso, Neil N; Landi, Maria Teresa MT; Liang, Faming F

Publication Date: 2012-01

Variant appearance in text: rs13180

PubMed Link: 22291610

Variant Present in the following documents:

• Main text

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A genome-wide association study of COPD identifies a susceptibility locus on chromosome 19q13.

Human Molecular Genetics

Cho, Michael H MH; Castaldi, Peter J PJ; Wan, Emily S ES; Siedlinski, Mateusz M; Hersh, Craig P CP; Demeo, Dawn L DL; Himes, Blanca E BE; Sylvia, Jody S JS; Klanderman, Barbara J BJ; Ziniti, John P JP; Lange, Christoph C; Litonjua, Augusto A AA; Sparrow, David D; Regan, Elizabeth A EA; Make, Barry J BJ; Hokanson, John E JE; Murray, Tanda T; Hetmanski, Jacqueline B JB; Pillai, Sreekumar G SG; Kong, Xiangyang X; Anderson, Wayne H WH; Tal-Singer, Ruth R; Lomas, David A DA; Coxson, Harvey O HO; Edwards, Lisa D LD; MacNee, William W; Vestbo, Jørgen J; Yates, Julie C JC; Agusti, Alvar A; Calverley, Peter M A PM; Celli, Bartolome B; Crim, Courtney C; Rennard, Stephen S; Wouters, Emiel E; Bakke, Per P; Gulsvik, Amund A; Crapo, James D JD; Beaty, Terri H TH; Silverman, Edwin K EK; , ; , ; ,

Publication Date: 2012-02-15

Variant appearance in text: rs13180

PubMed Link: 22080838

Variant Present in the following documents:

• Main text

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Genetics of sputum gene expression in chronic obstructive pulmonary disease.

Plos One

Qiu, Weiliang W; Cho, Michael H MH; Riley, John H JH; Anderson, Wayne H WH; Singh, Dave D; Bakke, Per P; Gulsvik, Amund A; Litonjua, Augusto A AA; Lomas, David A DA; Crapo, James D JD; Beaty, Terri H TH; Celli, Bartolome R BR; Rennard, Stephen S; Tal-Singer, Ruth R; Fox, Steven M SM; Silverman, Edwin K EK; Hersh, Craig P CP; ,

Publication Date: 2011

Variant appearance in text: rs13180

PubMed Link: 21949713

Variant Present in the following documents:

• Main text

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Identification of FGF7 as a novel susceptibility locus for chronic obstructive pulmonary disease.

Thorax

Brehm, John M JM; Hagiwara, Koichi K; Tesfaigzi, Yohannes Y; Bruse, Shannon S; Mariani, Thomas J TJ; Bhattacharya, Soumyaroop S; Boutaoui, Nadia N; Ziniti, John P JP; Soto-Quiros, Manuel E ME; Avila, Lydiana L; Cho, Michael H MH; Himes, Blanca B; Litonjua, Augusto A AA; Jacobson, Francine F; Bakke, Per P; Gulsvik, Amund A; Anderson, Wayne H WH; Lomas, David A DA; Forno, Erick E; Datta, Soma S; Silverman, Edwin K EK; Celedón, Juan C JC

Publication Date: 2011-12

Variant appearance in text: rs13180

PubMed Link: 21921092

Variant Present in the following documents:

• Main text

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Efficient replication of over 180 genetic associations with self-reported medical data.

Plos One

Tung, Joyce Y JY; Do, Chuong B CB; Hinds, David A DA; Kiefer, Amy K AK; Macpherson, J Michael JM; Chowdry, Arnab B AB; Francke, Uta U; Naughton, Brian T BT; Mountain, Joanna L JL; Wojcicki, Anne A; Eriksson, Nicholas N

Publication Date: 2011

Variant appearance in text: rs13180

PubMed Link: 21858135

Variant Present in the following documents:

• Main text
• pone.0023473.pdf

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