Publications:

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: 1136G>C; Trp379Ser

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.

Frontiers In Physiology

Wang, Yundi Y; Eldstrom, Jodene J; Fedida, David D

Publication Date: 2020

Variant appearance in text: KCNQ1: W379S

PubMed Link: 32581825

Variant Present in the following documents:

• Main text
• fphys-11-00504.pdf

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Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.

Frontiers In Pharmacology

Brewer, Kathryn R KR; Kuenze, Georg G; Vanoye, Carlos G CG; George, Alfred L AL; Meiler, Jens J; Sanders, Charles R CR

Publication Date: 2020

Variant appearance in text: KCNQ1: W379S

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1

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The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences

Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A

Publication Date: 2019-01-18

Variant appearance in text: LQT1: W379S

PubMed Link: 30669290

Variant Present in the following documents:

• Main text

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Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks).

Proceedings Of The National Academy Of Sciences Of The United States Of America

Li, Yang Y; Gao, Junyuan J; Lu, Zhongju Z; McFarland, Kelli K; Shi, Jingyi J; Bock, Kevin K; Cohen, Ira S IS; Cui, Jianmin J

Publication Date: 2013-11-19

Variant appearance in text: KCNQ1: W379S

PubMed Link: 24190995

Variant Present in the following documents:

• Main text

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