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: 1013C>G; Ser338Cys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Mutation location and IKs regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region.

European Heart Journal

Schwartz, Peter J PJ; Moreno, Cristina C; Kotta, Maria-Christina MC; Pedrazzini, Matteo M; Crotti, Lia L; Dagradi, Federica F; Castelletti, Silvia S; Haugaa, Kristina H KH; Denjoy, Isabelle I; Shkolnikova, Maria A MA; Brink, Paul A PA; Heradien, Marshall J MJ; Seyen, Sandrine R M SRM; Spätjens, Roel L H M G RLHMG; Spazzolini, Carla C; Volders, Paul G A PGA

Publication Date: 2021-12-07

Variant appearance in text: KCNQ1: S338C

PubMed Link: 34505893

Variant Present in the following documents:

• Main text

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Building KCNQ1/KCNE1 channel models and probing their interactions by molecular-dynamics simulations.

Biophysical Journal

Xu, Yu Y; Wang, Yuhong Y; Meng, Xuan-Yu XY; Zhang, Mei M; Jiang, Min M; Cui, Meng M; Tseng, Gea-Ny GN

Publication Date: 2013-12-03

Variant appearance in text: KCNQ1: S338C

PubMed Link: 24314077

Variant Present in the following documents:

• Main text

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Distinct subdomains of the KCNQ1 S6 segment determine channel modulation by different KCNE subunits.

The Journal Of General Physiology

Vanoye, Carlos G CG; Welch, Richard C RC; Daniels, Melissa A MA; Manderfield, Lauren J LJ; Tapper, Andrew R AR; Sanders, Charles R CR; George, Alfred L AL

Publication Date: 2009-09

Variant appearance in text: KCNQ1: S338C

PubMed Link: 19687231

Variant Present in the following documents:

• Main text
• JGP_200910234.pdf

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