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: 1685G>T; Arg562Met

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Ventricular voltage-gated ion channels: Detection, characteristics, mechanisms, and drug safety evaluation.

Clinical And Translational Medicine

Chen, Lulan L; He, Yue Y; Wang, Xiangdong X; Ge, Junbo J; Li, Hua H

Publication Date: 2021-10

Variant appearance in text: KCNQ1: R562M

PubMed Link: 34709746

Variant Present in the following documents:

• Main text

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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: R562M

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

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Voltage-Dependent Gating: Novel Insights from KCNQ1 Channels.

Biophysical Journal

Cui, Jianmin J

Publication Date: 2016-01-05

Variant appearance in text: KCNQ1: R562M

PubMed Link: 26745405

Variant Present in the following documents:

• Main text

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Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.

Journal Of Cell Science

Dvir, Meidan M; Strulovich, Roi R; Sachyani, Dana D; Ben-Tal Cohen, Inbal I; Haitin, Yoni Y; Dessauer, Carmen C; Pongs, Olaf O; Kass, Robert R; Hirsch, Joel A JA; Attali, Bernard B

Publication Date: 2014-09-15

Variant appearance in text: KCNQ1: R562M

PubMed Link: 25037568

Variant Present in the following documents:

• Main text

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