Publications:

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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: R380S

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: R380S

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: KCNQ1: R380S

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 2

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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: R380S

PubMed Link: 30669290

Variant Present in the following documents:

• Main text
• ijms-20-00400.pdf

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Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.

Heartrhythm Case Reports

Paquin, Ashley A; Ye, Dan D; Tester, David J DJ; Kapplinger, Jamie D JD; Zimmermann, Michael T MT; Ackerman, Michael J MJ

Publication Date: 2018-02

Variant appearance in text: KCNQ1: R380S

PubMed Link: 29876285

Variant Present in the following documents:

• main.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: KCNQ1: R380S

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s4.xls, sheet 1

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LQT1: R380S

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: KCNQ1: R380S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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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: R380S

PubMed Link: 24190995

Variant Present in the following documents:

• Main text

View BVdb publication page

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