Publications:

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Identification of a novel pathogenic variant in KCNH2 in an Iranian family with long QT syndrome 2 by whole-exome sequencing.

Journal Of Arrhythmia

Fazelifar, Amir Farjam AF; Pourirahim, Maryam M; Masoumi, Tannaz T; Biglari, Alireza A; Maleki, Majid M; Kalayinia, Samira S

Publication Date: 2023-06

Variant appearance in text: KCNH2: F463L; rs199472904

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.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: LQT2: F463L

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

View BVdb publication page

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Targeted next generation sequencing revealed a novel deletion-frameshift mutation of KCNH2 gene in a Chinese Han family with long QT syndrome: A case report and review of Chinese cases.

Medicine

Du, Fengli F; Wang, Guangxin G; Wang, Dawei D; Su, Guoying G; Yao, Guixiang G; Zhang, Wei W; Su, Guohai G

Publication Date: 2020-04

Variant appearance in text: HERG: F463L

PubMed Link: 32311972

Variant Present in the following documents:

• medi-99-e19749.pdf

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Experimentally Validated Pharmacoinformatics Approach to Predict hERG Inhibition Potential of New Chemical Entities.

Frontiers In Pharmacology

Munawar, Saba S; Windley, Monique J MJ; Tse, Edwin G EG; Todd, Matthew H MH; Hill, Adam P AP; Vandenberg, Jamie I JI; Jabeen, Ishrat I

Publication Date: 2018

Variant appearance in text: HERG: F463L

PubMed Link: 30333745

Variant Present in the following documents:

• fphar-09-01035.pdf

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Association of the hERG mutation with long-QT syndrome type 2, syncope and epilepsy.

Molecular Medicine Reports

Li, Guoliang G; Shi, Rui R; Wu, Jine J; Han, Wenqi W; Zhang, Aifeng A; Cheng, Gong G; Xue, Xiaolin X; Sun, Chaofeng C

Publication Date: 2016-03

Variant appearance in text: LQT2: F463L

PubMed Link: 26847485

Variant Present in the following documents:

• Main text
• mmr-13-03-2467.pdf

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Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.

Genome Medicine

Ruklisa, Dace D; Ware, James S JS; Walsh, Roddy R; Balding, David J DJ; Cook, Stuart A SA

Publication Date: 2015

Variant appearance in text: KCNH2: 1387T>C

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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Functional interactions of voltage sensor charges with an S2 hydrophobic plug in hERG channels.

The Journal Of General Physiology

Cheng, Yen May YM; Hull, Christina M CM; Niven, Christine M CM; Qi, Ji J; Allard, Charlene R CR; Claydon, Tom W TW

Publication Date: 2013-09

Variant appearance in text: Kv11.1: F463L

PubMed Link: 23980197

Variant Present in the following documents:

• Main text

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Allele-specific RNA interference rescues the long-QT syndrome phenotype in human-induced pluripotency stem cell cardiomyocytes.

European Heart Journal

Matsa, Elena E; Dixon, James E JE; Medway, Christopher C; Georgiou, Orestis O; Patel, Minal J MJ; Morgan, Kevin K; Kemp, Paul J PJ; Staniforth, Andrew A; Mellor, Ian I; Denning, Chris C

Publication Date: 2014-04

Variant appearance in text: HERG: F463L

PubMed Link: 23470493

Variant Present in the following documents:

• eht067.pdf

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Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation.

European Heart Journal

Matsa, Elena E; Rajamohan, Divya D; Dick, Emily E; Young, Lorraine L; Mellor, Ian I; Staniforth, Andrew A; Denning, Chris C

Publication Date: 2011-04

Variant appearance in text: HERG: F463L

PubMed Link: 21367833

Variant Present in the following documents:

• ehr073.pdf

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Emerging concepts in the pharmacogenomics of arrhythmias: ion channel trafficking.

Expert Review Of Cardiovascular Therapy

Harkcom, William T WT; Abbott, Geoffrey W GW

Publication Date: 2010-08

Variant appearance in text: LQT2: F463L

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

View BVdb publication page

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