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: 1079G>C; Arg360Thr

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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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: R360T

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

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Upgraded molecular models of the human KCNQ1 potassium channel.

Plos One

Kuenze, Georg G; Duran, Amanda M AM; Woods, Hope H; Brewer, Kathryn R KR; McDonald, Eli Fritz EF; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J

Publication Date: 2019

Variant appearance in text: KCNQ1: R360T

PubMed Link: 31518351

Variant Present in the following documents:

• Main text
• pone.0220415.pdf

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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: R360T

PubMed Link: 24947509

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: R360T

PubMed Link: 19808498

Variant Present in the following documents:

• Main text

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