Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 1078A>G; Arg360Gly

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances

Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J

Publication Date: 2020-12

Variant appearance in text: KCNQ1: R360G

PubMed Link: 33310856

Variant Present in the following documents:

• Main text
• abd6798.pdf

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Calmodulin acts as a state-dependent switch to control a cardiac potassium channel opening.

Science Advances

Kang, Po Wei PW; Westerlund, Annie M AM; Shi, Jingyi J; White, Kelli McFarland KM; Dou, Alex K AK; Cui, Amy H AH; Silva, Jonathan R JR; Delemotte, Lucie L; Cui, Jianmin J

Publication Date: 2020-12

Variant appearance in text: KCNQ1: R360G

PubMed Link: 33310856

Variant Present in the following documents:

• Main text
• abd6798.pdf

View BVdb publication page

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Integrated molecular drivers coordinate biological and clinical states in melanoma.

Nature Genetics

Conway, Jake R JR; Dietlein, Felix F; Taylor-Weiner, Amaro A; AlDubayan, Saud S; Vokes, Natalie N; Keenan, Tanya T; Reardon, Brendan B; He, Meng Xiao MX; Margolis, Claire A CA; Weirather, Jason L JL; Haq, Rizwan R; Schilling, Bastian B; Stephen Hodi, F F; Schadendorf, Dirk D; Liu, David D; Van Allen, Eliezer M EM

Publication Date: 2020-12

Variant appearance in text: KCNQ1: 1078A>G; R360G

PubMed Link: 33230298

Variant Present in the following documents:

• NIHMS1637640-supplement-SuppData1.xlsx, sheet 1

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Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Nature Communications

Akhavanfard, Sara S; Padmanabhan, Roshan R; Yehia, Lamis L; Cheng, Feixiong F; Eng, Charis C

Publication Date: 2020-05-05

Variant appearance in text: KCNQ1: 1078A>G; R360G

PubMed Link: 32371905

Variant Present in the following documents:

• 41467_2020_16067_MOESM12_ESM.xlsx, sheet 9

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Physical and functional interaction sites in cytoplasmic domains of KCNQ1 and KCNE1 channel subunits.

American Journal Of Physiology. Heart And Circulatory Physiology

Chen, Jerri J; Liu, Zhenning Z; Creagh, John J; Zheng, Renjian R; McDonald, Thomas V TV

Publication Date: 2020-02-01

Variant appearance in text: KCNQ1: R360G

PubMed Link: 31834838

Variant Present in the following documents:

• Main text

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Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning.

The Journal Of Biological Chemistry

Eckey, Karina K; Wrobel, Eva E; Strutz-Seebohm, Nathalie N; Pott, Lutz L; Schmitt, Nicole N; Seebohm, Guiscard G

Publication Date: 2014-08-15

Variant appearance in text: KCNQ1: R360G

PubMed Link: 24947509

Variant Present in the following documents:

• Main text

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Characterization of a binding site for anionic phospholipids on KCNQ1.

The Journal Of Biological Chemistry

Thomas, Alison M AM; Harmer, Stephen C SC; Khambra, Tapsi T; Tinker, Andrew A

Publication Date: 2011-01-21

Variant appearance in text: KCNQ1: R360G

PubMed Link: 21084310

Variant Present in the following documents:

• Main text

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Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

Circulation. Arrhythmia And Electrophysiology

Yang, Tao T; Chung, Seo-Kyung SK; Zhang, Wei W; Mullins, Jonathan G L JG; McCulley, Caroline H CH; Crawford, Jackie J; MacCormick, Judith J; Eddy, Carey-Anne CA; Shelling, Andrew N AN; French, John K JK; Yang, Ping P; Skinner, Jonathan R JR; Roden, Dan M DM; Rees, Mark I MI

Publication Date: 2009-08

Variant appearance in text: KCNQ1: R360G

PubMed Link: 19808498

Variant Present in the following documents:

• Main text

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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation

Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S

Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: R360G

PubMed Link: 17470695

Variant Present in the following documents:

• Main text

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