Publications:

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Implications of genetic variations, differential gene expression, and allele-specific expression on metformin response in drug-naïve type 2 diabetes.

Journal Of Endocrinological Investigation

Vohra, M M; Sharma, A R AR; Mallya, S S; Prabhu, N B NB; Jayaram, P P; Nagri, S K SK; Umakanth, S S; Rai, P S PS

Publication Date: 2022-12-18

Variant appearance in text: rs4773092

PubMed Link: 36528847

Variant Present in the following documents:

• Main text
• 40618_2022_Article_1989.pdf

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: rs4773092

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: IRS2: C816C

PubMed Link: 36241656

Variant Present in the following documents:

• 41598_2022_20939_MOESM15_ESM.xlsx, sheet 2
• 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_MOESM4_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM7_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM14_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM5_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM8_ESM.xlsx, sheet 2
• 41598_2022_20939_MOESM9_ESM.xlsx, sheet 2

View BVdb publication page

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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: IRS2: C816C; rs4773092

PubMed Link: 36075891

Variant Present in the following documents:

• 41439_2022_208_MOESM5_ESM.xlsx, sheet 2
• 41439_2022_208_MOESM3_ESM.xlsx, sheet 2

View BVdb publication page

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Genomic, transcriptomic, and metabolomic profiles of hiPSC-derived dopamine neurons from clinically discordant brothers with identical PRKN deletions.

Npj Parkinson'S Disease

Cukier, Holly N HN; Kim, Hyunjin H; Griswold, Anthony J AJ; Codreanu, Simona G SG; Prince, Lisa M LM; Sherrod, Stacy D SD; McLean, John A JA; Dykxhoorn, Derek M DM; Ess, Kevin C KC; Hedera, Peter P; Bowman, Aaron B AB; Neely, M Diana MD

Publication Date: 2022-06-29

Variant appearance in text: IRS2: C816C; rs4773092

PubMed Link: 35768426

Variant Present in the following documents:

• 41531_2022_346_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Targeting genome integrity dysfunctions impedes metastatic potency in non-small cell lung cancer circulating tumor cell-derived explants.

Jci Insight

Tayoun, Tala T; Faugeroux, Vincent V; Oulhen, Marianne M; Déas, Olivier O; Michels, Judith J; Brulle-Soumare, Laura L; Cairo, Stefano S; Scoazec, Jean-Yves JY; Marty, Virginie V; Aberlenc, Agathe A; Planchard, David D; Remon, Jordi J; Ponce, Santiago S; Besse, Benjamin B; Kannouche, Patricia L PL; Judde, Jean-Gabriel JG; Pawlikowska, Patrycja P; Farace, Françoise F

Publication Date: 2022-06-08

Variant appearance in text: IRS2: 2448T>C; C816C; rs4773092

PubMed Link: 35511434

Variant Present in the following documents:

• jciinsight-7-155804-s147.xlsx, sheet 4
• jciinsight-7-155804-s147.xlsx, sheet 2

View BVdb publication page

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Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions.

Molecular Oncology

Ottaiano, Alessandro A; Circelli, Luisa L; Santorsola, Mariachiara M; Savarese, Giovanni G; Fontanella, Daniela D; Gigantino, Valerio V; Di Mauro, Annabella A; Capuozzo, Maurizio M; Zappavigna, Silvia S; Lombardi, Angela A; Perri, Francesco F; Cascella, Marco M; Granata, Vincenza V; Capuozzo, Maurizio M; Nasti, Guglielmo G; Caraglia, Michele M

Publication Date: 2021-10-20

Variant appearance in text: IRS2: 2448T>C

PubMed Link: 34668636

Variant Present in the following documents:

• Main text
• MOL2-16-319.pdf

View BVdb publication page

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Metastatic colorectal cancer and type 2 diabetes: prognostic and genetic interactions.

Molecular Oncology

Ottaiano, Alessandro A; Circelli, Luisa L; Santorsola, Mariachiara M; Savarese, Giovanni G; Fontanella, Daniela D; Gigantino, Valerio V; Di Mauro, Annabella A; Capuozzo, Maurizio M; Zappavigna, Silvia S; Lombardi, Angela A; Perri, Francesco F; Cascella, Marco M; Granata, Vincenza V; Capuozzo, Maurizio M; Nasti, Guglielmo G; Caraglia, Michele M

Publication Date: 2022-01

Variant appearance in text: IRS2: 2448T>C

PubMed Link: 34668636

Variant Present in the following documents:

• Main text
• MOL2-16-319.pdf

View BVdb publication page

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A systematic review of common genetic variation and biological pathways in autism spectrum disorder.

Bmc Neuroscience

Rodriguez-Gomez, Diego Alejandro DA; Garcia-Guaqueta, Danna Paola DP; Charry-Sánchez, Jesús David JD; Sarquis-Buitrago, Elias E; Blanco, Mariana M; Velez-van-Meerbeke, Alberto A; Talero-Gutiérrez, Claudia C

Publication Date: 2021-10-09

Variant appearance in text: rs4773092

PubMed Link: 34627165

Variant Present in the following documents:

• 12868_2021_662_MOESM1_ESM.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: IRS2: C816C; rs4773092

PubMed Link: 33791233

Variant Present in the following documents:

• Table_2.xlsx, sheet 1

View BVdb publication page

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RNA editing of BFP, a point mutant of GFP, using artificial APOBEC1 deaminase to restore the genetic code.

Scientific Reports

Bhakta, Sonali S; Sakari, Matomo M; Tsukahara, Toshifumi T

Publication Date: 2020-10-14

Variant appearance in text: IRS2: 2448T>C

PubMed Link: 33057101

Variant Present in the following documents:

• 41598_2020_74374_MOESM3_ESM.xlsx, sheet 1

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: IRS2: C816C; rs4773092

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: rs4773092

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: IRS2: C816C; rs4773092

PubMed Link: 31597922

Variant Present in the following documents:

• 41598_2019_50891_MOESM5_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM4_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM2_ESM.xlsx, sheet 1
• 41598_2019_50891_MOESM3_ESM.xlsx, sheet 1

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: IRS2: 2448T>C

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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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: rs4773092

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: IRS2: 2448T>C; rs4773092

PubMed Link: 30319441

Variant Present in the following documents:

• Table_7.xlsx, sheet 1
• Table_6.xlsx, sheet 1

View BVdb publication page

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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: IRS2: 2448T>C; C816C; rs4773092

PubMed Link: 29974678

Variant Present in the following documents:

• MGG3-6-739-s002.xlsx, sheet 4
• MGG3-6-739-s002.xlsx, sheet 3
• MGG3-6-739-s002.xlsx, sheet 6

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: IRS2: C816C; rs4773092

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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Association between IRS1 Gene Polymorphism and Autism Spectrum Disorder: A Pilot Case-Control Study in Korean Males.

International Journal Of Molecular Sciences

Park, Hae Jeong HJ; Kim, Su Kang SK; Kang, Won Sub WS; Park, Jin Kyung JK; Kim, Young Jong YJ; Nam, Min M; Kim, Jong Woo JW; Chung, Joo-Ho JH

Publication Date: 2016-07-29

Variant appearance in text: IRS2: Cys816Cys; rs4773092

PubMed Link: 27483248

Variant Present in the following documents:

• Main text
• ijms-17-01227.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: IRS2: C816C; rs4773092

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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Asparaginase treatment side-effects may be due to genes with homopolymeric Asn codons (Review-Hypothesis).

International Journal Of Molecular Medicine

Banerji, Julian J

Publication Date: 2015-09

Variant appearance in text: IRS2: Cys816Cys; rs4773092

PubMed Link: 26178806

Variant Present in the following documents:

• Main text
• ijmm-36-03-0607.pdf

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: IRS2: C816C; rs4773092

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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Variation in genes related to obesity, weight, and weight change and risk of contralateral breast cancer in the WECARE Study population.

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

Brooks, Jennifer D JD; Bernstein, Leslie L; Teraoka, Sharon N SN; Knight, Julia A JA; Mellemkjær, Lene L; John, Esther M EM; Malone, Kathleen E KE; Reiner, Anne S AS; Lynch, Charles F CF; Concannon, Patrick P; Haile, Robert W RW; Bernstein, Jonine L JL; ,

Publication Date: 2012-12

Variant appearance in text: rs4773092

PubMed Link: 23033454

Variant Present in the following documents:

• Main text

View BVdb publication page

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Resequencing of IRS2 reveals rare variants for obesity but not fasting glucose homeostasis in Hispanic children.

Physiological Genomics

Butte, Nancy F NF; Voruganti, V Saroja VS; Cole, Shelley A SA; Haack, Karin K; Comuzzie, Anthony G AG; Muzny, Donna M DM; Wheeler, David A DA; Chang, Kyle K; Hawes, Alicia A; Gibbs, Richard A RA

Publication Date: 2011-09-22

Variant appearance in text: rs4773092

PubMed Link: 21771880

Variant Present in the following documents:

• Main text

View BVdb publication page

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Insulin-like growth factor-1- and interleukin-6-related gene variation and risk of multiple myeloma.

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

Birmann, Brenda M BM; Tamimi, Rulla M RM; Giovannucci, Edward E; Rosner, Bernard B; Hunter, David J DJ; Kraft, Peter P; Mitsiades, Constantine C; Anderson, Kenneth C KC; Colditz, Graham A GA

Publication Date: 2009-01

Variant appearance in text: rs4773092

PubMed Link: 19124510

Variant Present in the following documents:

• Main text

View BVdb publication page

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Genetic variation in candidate obesity genes ADRB2, ADRB3, GHRL, HSD11B1, IRS1, IRS2, and SHC1 and risk for breast cancer in the Cancer Prevention Study II.

Breast Cancer Research : Bcr

Feigelson, Heather Spencer HS; Teras, Lauren R LR; Diver, W Ryan WR; Tang, Weining W; Patel, Alpa V AV; Stevens, Victoria L VL; Calle, Eugenia E EE; Thun, Michael J MJ; Bouzyk, Mark M

Publication Date: 2008

Variant appearance in text: rs4773092

PubMed Link: 18611262

Variant Present in the following documents:

• Main text
• bcr2114.pdf

View BVdb publication page

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Genotyping panel for assessing response to cancer chemotherapy.

Bmc Medical Genomics

Dai, Zunyan Z; Papp, Audrey C AC; Wang, Danxin D; Hampel, Heather H; Sadee, Wolfgang W

Publication Date: 2008-06-11

Variant appearance in text: rs4773092

PubMed Link: 18547414

Variant Present in the following documents:

• 1755-8794-1-24-S1.xls, sheet 1

View BVdb publication page

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