Publications:

---

Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome.

Philosophical Transactions Of The Royal Society Of London. Series B, Biological Sciences

Hancox, J C JC; Du, C Y CY; Butler, A A; Zhang, Y Y; Dempsey, C E CE; Harmer, S C SC; Zhang, H H

Publication Date: 2023-06-19

Variant appearance in text: KCNQ1: F279I

PubMed Link: 37122211

Variant Present in the following documents:

• Main text
• rstb.2022.0165.pdf

View BVdb publication page

---

Human Sinoatrial Node Pacemaker Activity: Role of the Slow Component of the Delayed Rectifier K+ Current, IKs.

International Journal Of Molecular Sciences

Verkerk, Arie O AO; Wilders, Ronald R

Publication Date: 2023-04-14

Variant appearance in text: KCNQ1: F279I

PubMed Link: 37108427

Variant Present in the following documents:

• Main text
• ijms-24-07264.pdf

View BVdb publication page

---

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: 835T>A; Phe279Ile

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

---

A novel variant in KCNQ1 associated with short QT syndrome.

Heartrhythm Case Reports

Schneider, Kristin K; Parrott, Ashley A; Spar, David D; Knilans, Timothy T; Czosek, Richard R; Miller, Erin E; Anderson, Jeffrey J

Publication Date: 2021-10

Variant appearance in text: KCNQ1: Phe279Ile

PubMed Link: 34712558

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: F279I

PubMed Link: 34709746

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death.

European Heart Journal

Walsh, Roddy R; Adler, Arnon A; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Bikker, Hennie H; Amenta, Simona S; Feilotter, Harriet H; Nannenberg, Eline A EA; Mazzarotto, Francesco F; Trevisan, Valentina V; Garcia, John J; Hershberger, Ray E RE; Perez, Marco V MV; Sturm, Amy C AC; Ware, James S JS; Zareba, Wojciech W; Novelli, Valeria V; Wilde, Arthur A M AAM; Gollob, Michael H MH

Publication Date: 2022-04-14

Variant appearance in text: KCNQ1: Phe279Ile

PubMed Link: 34557911

Variant Present in the following documents:

• Main text
• ehab687.pdf

View BVdb publication page

---

A general mechanism of KCNE1 modulation of KCNQ1 channels involving non-canonical VSD-PD coupling.

Communications Biology

Wu, Xiaoan X; Perez, Marta E ME; Noskov, Sergei Yu SY; Larsson, H Peter HP

Publication Date: 2021-07-20

Variant appearance in text: KCNQ1: F279I

PubMed Link: 34285340

Variant Present in the following documents:

• Main text
• 42003_2021_2418_MOESM6_ESM.pdf
• 42003_2021_Article_2418.pdf

View BVdb publication page

---

Disease-linked supertrafficking of a potassium channel.

The Journal Of Biological Chemistry

Huang, Hui H; Chamness, Laura M LM; Vanoye, Carlos G CG; Kuenze, Georg G; Meiler, Jens J; George, Alfred L AL; Schlebach, Jonathan Patrick JP; Sanders, Charles R CR

Publication Date: 2021

Variant appearance in text: KCNQ1: F279I

PubMed Link: 33600800

Variant Present in the following documents:

• mmc1.pdf

View BVdb publication page

---

A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology

Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE

Publication Date: 2020-08

Variant appearance in text: KCNQ1: F279I

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.pdf

View BVdb publication page

---

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants.

Journal Of Clinical Medicine

Campuzano, Oscar O; Fernandez-Falgueras, Anna A; Lemus, Ximena X; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Coll, Monica M; Mates, Jesus J; Arbelo, Elena E; Jordà, Paloma P; Perez-Serra, Alexandra A; Del Olmo, Bernat B; Ferrer-Costa, Carles C; Iglesias, Anna A; Fiol, Victoria V; Puigmulé, Marta M; Lopez, Laura L; Pico, Ferran F; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2019-07-16

Variant appearance in text: KCNQ1: Phe279Ile

PubMed Link: 31315195

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Gating modulation of the KCNQ1 channel by KCNE proteins studied by voltage-clamp fluorometry.

Biophysics And Physicobiology

Nakajo, Koichi K

Publication Date: 2019

Variant appearance in text: KCNQ1: F279I

PubMed Link: 31236320

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Investigating the Complex Arrhythmic Phenotype Caused by the Gain-of-Function Mutation KCNQ1-G229D.

Frontiers In Physiology

Zhou, Xin X; Bueno-Orovio, Alfonso A; Schilling, Richard J RJ; Kirkby, Claire C; Denning, Chris C; Rajamohan, Divya D; Burrage, Kevin K; Tinker, Andrew A; Rodriguez, Blanca B; Harmer, Stephen C SC

Publication Date: 2019

Variant appearance in text: KCNQ1: F279I

PubMed Link: 30967788

Variant Present in the following documents:

• Main text
• fphys-10-00259.pdf

View BVdb publication page

---

Recent Advances in Short QT Syndrome.

Frontiers In Cardiovascular Medicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Cesar, Sergi S; Arbelo, Elena E; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2018

Variant appearance in text: Kv7.1: Phe279Ile

PubMed Link: 30420954

Variant Present in the following documents:

• Main text
• fcvm-05-00149.pdf

View BVdb publication page

---

Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling.

Frontiers In Physiology

Whittaker, Dominic G DG; Colman, Michael A MA; Ni, Haibo H; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2018

Variant appearance in text: KCNQ1: F279I

PubMed Link: 30337886

Variant Present in the following documents:

• Main text
• fphys-09-01402.pdf

View BVdb publication page

---

In silico investigation of a KCNQ1 mutation associated with short QT syndrome.

Scientific Reports

Adeniran, Ismail I; Whittaker, Dominic G DG; El Harchi, Aziza A; Hancox, Jules C JC; Zhang, Henggui H

Publication Date: 2017-08-16

Variant appearance in text: KCNQ1: F279I

PubMed Link: 28814790

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: F279I

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page

---

Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: KCNQ1: F279I

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

View BVdb publication page

---