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: 1762A>G; rs199473431

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology

Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE

Publication Date: 2022

Variant appearance in text: KCNH2: N588D

PubMed Link: 36339618

Variant Present in the following documents:

• fphar-13-1010119.pdf

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STRAIGHT-IN enables high-throughput targeting of large DNA payloads in human pluripotent stem cells.

Cell Reports Methods

Blanch-Asensio, Albert A; Grandela, Catarina C; Brandão, Karina O KO; de Korte, Tessa T; Mei, Hailiang H; Ariyurek, Yavuz Y; Yiangou, Loukia L; Mol, Mervyn P H MPH; van Meer, Berend J BJ; Kloet, Susan L SL; Mummery, Christine L CL; Davis, Richard P RP

Publication Date: 2022-10-24

Variant appearance in text: KCNH2: 1762A>G; rs199473431

PubMed Link: 36313798

Variant Present in the following documents:

• mmc1.pdf
• mmc2.pdf

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Synergistic gene editing in human iPS cells via cell cycle and DNA repair modulation.

Nature Communications

Maurissen, Thomas L TL; Woltjen, Knut K

Publication Date: 2020-06-08

Variant appearance in text: KCNH2: N588D

PubMed Link: 32513994

Variant Present in the following documents:

• Main text
• 41467_2020_Article_16643.pdf
• 41467_2020_16643_MOESM1_ESM.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: N588D

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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Systematic analysis of the intersection of disease mutations with protein modifications.

Bmc Medical Genomics

Simpson, Claire M CM; Zhang, Bin B; Hornbeck, Peter V PV; Gnad, Florian F

Publication Date: 2019-07-25

Variant appearance in text: Kv11.1: N588D

PubMed Link: 31345222

Variant Present in the following documents:

• 12920_2019_543_MOESM6_ESM.xlsx, sheet 3

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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: LQT2: N588D

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: KCNH2: N588D

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

Circulation. Cardiovascular Genetics

Giudicessi, John R JR; Kapplinger, Jamie D JD; Tester, David J DJ; Alders, Marielle M; Salisbury, Benjamin A BA; Wilde, Arthur A M AA; Ackerman, Michael J MJ

Publication Date: 2012-10-01

Variant appearance in text: KCNH2: N588D

PubMed Link: 22949429

Variant Present in the following documents:

• Main text

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Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary long QT syndrome.

The Canadian Journal Of Cardiology

Lian, Jiangfang J; Huang, Na N; Zhou, Junbo J; Ge, Shijun S; Huang, Xiaoyan X; Huo, Jianhua J; Liu, Liying L; Xu, Weifeng W; Zhang, Shun S; Yang, Xi X; Zhou, Jianqing J; Huang, Chen C

Publication Date: 2010-10

Variant appearance in text: LQT2: N588D

PubMed Link: 20931094

Variant Present in the following documents:

• Main text

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Drug-induced QT interval shortening: potential harbinger of proarrhythmia and regulatory perspectives.

British Journal Of Pharmacology

Shah, Rashmi R RR

Publication Date: 2010-01

Variant appearance in text: KCNH2: N588D

PubMed Link: 19563537

Variant Present in the following documents:

• Main text

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Congenital short QT syndrome.

Indian Pacing And Electrophysiology Journal

Antzelevitch, Charles C; Francis, Johnson J

Publication Date: 2004-04-01

Variant appearance in text: HERG: N588D

PubMed Link: 16943970

Variant Present in the following documents:

• Main text
• ipej040046-00.pdf

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Effect of S5P alpha-helix charge mutants on inactivation of hERG K+ channels.

The Journal Of Physiology

Clarke, C E CE; Hill, A P AP; Zhao, J J; Kondo, M M; Subbiah, R N RN; Campbell, T J TJ; Vandenberg, J I JI

Publication Date: 2006-06-01

Variant appearance in text: HERG: N588D

PubMed Link: 16556651

Variant Present in the following documents:

• Main text

View BVdb publication page

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