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: F805C; rs199472999

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Modeling long QT syndrome type 2 on-a-chip via in-depth assessment of isogenic gene-edited 3D cardiac tissues.

Science Advances

Veldhuizen, Jaimeson J; Mann, Helen F HF; Karamanova, Nina N; Van Horn, Wade D WD; Migrino, Raymond Q RQ; Brafman, David D; Nikkhah, Mehdi M

Publication Date: 2022-12-16

Variant appearance in text: KCNH2: F805C

PubMed Link: 36525500

Variant Present in the following documents:

• Main text
• sciadv.abq6720.pdf

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Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.

Frontiers In Cardiovascular Medicine

Wang, Meng M; Peterson, Derick R DR; Pagan, Eleonora E; Bagnardi, Vincenzo V; Mazzanti, Andrea A; McNitt, Scott S; Rich, David Q DQ; Seplaki, Christopher L CL; Kutyifa, Valentina V; Polonsky, Bronislava B; Barsheshet, Alon A; Kukavica, Deni D; Rosero, Spencer S; Goldenberg, Ilan I; Priori, Silvia S; Zareba, Wojciech W

Publication Date: 2022

Variant appearance in text: LQT2: F805C

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

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Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology.

Biology Methods & Protocols

Ng, Chai-Ann CA; Farr, Jessica J; Young, Paul P; Windley, Monique J MJ; Perry, Matthew D MD; Hill, Adam P AP; Vandenberg, Jamie I JI

Publication Date: 2021

Variant appearance in text: KCNH2: F805C

PubMed Link: 33884304

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: LQT2: F805C

PubMed Link: 32431610

Variant Present in the following documents:

• Main text

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REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: KCNH2: 2414T>G; F805C

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

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Mutation-specific peripheral and ER quality control of hERG channel cell-surface expression.

Scientific Reports

Foo, Brian B; Barbier, Camille C; Guo, Kevin K; Vasantharuban, Jaminie J; Lukacs, Gergely L GL; Shrier, Alvin A

Publication Date: 2019-04-15

Variant appearance in text: LQT2: F805C

PubMed Link: 30988392

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42331.pdf
• 41598_2019_42331_MOESM1_ESM.pdf

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An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation

Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,

Publication Date: 2019-01-01

Variant appearance in text: KCNH2: 2414T>G; Phe805Cys

PubMed Link: 30937429

Variant Present in the following documents:

• famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1

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Visualizing Mutation-Specific Differences in the Trafficking-Deficient Phenotype of Kv11.1 Proteins Linked to Long QT Syndrome Type 2.

Frontiers In Physiology

Hall, Allison R AR; Anderson, Corey L CL; Smith, Jennifer L JL; Mirshahi, Tooraj T; Elayi, Claude S CS; January, Craig T CT; Delisle, Brian P BP

Publication Date: 2018

Variant appearance in text: Kv11.1: F805C

PubMed Link: 29875689

Variant Present in the following documents:

• Main text
• fphys-09-00584.pdf

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Bag1 Co-chaperone Promotes TRC8 E3 Ligase-dependent Degradation of Misfolded Human Ether a Go-Go-related Gene (hERG) Potassium Channels.

The Journal Of Biological Chemistry

Hantouche, Christine C; Williamson, Brittany B; Valinsky, William C WC; Solomon, Joshua J; Shrier, Alvin A; Young, Jason C JC

Publication Date: 2017-02-10

Variant appearance in text: LQT2: F805C

PubMed Link: 27998983

Variant Present in the following documents:

• Main text

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Connexin 43 and CaV1.2 Ion Channel Trafficking in Healthy and Diseased Myocardium.

Circulation. Arrhythmia And Electrophysiology

Basheer, Wassim A WA; Shaw, Robin M RM

Publication Date: 2016-06

Variant appearance in text: LQT2: F805C

PubMed Link: 27266274

Variant Present in the following documents:

• Main text

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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: F805C

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: F805C

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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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: 2414T>G

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

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Translational toxicology and rescue strategies of the hERG channel dysfunction: biochemical and molecular mechanistic aspects.

Acta Pharmacologica Sinica

Zhang, Kai-ping KP; Yang, Bao-feng BF; Li, Bao-xin BX

Publication Date: 2014-12

Variant appearance in text: KCNH2: F805C

PubMed Link: 25418379

Variant Present in the following documents:

• Main text

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Ubiquitination-dependent quality control of hERG K+ channel with acquired and inherited conformational defect at the plasma membrane.

Molecular Biology Of The Cell

Apaja, Pirjo M PM; Foo, Brian B; Okiyoneda, Tsukasa T; Valinsky, William C WC; Barriere, Herve H; Atanasiu, Roxana R; Ficker, Eckhard E; Lukacs, Gergely L GL; Shrier, Alvin A

Publication Date: 2013-12

Variant appearance in text: LQT2: F805C

PubMed Link: 24152733

Variant Present in the following documents:

• Main text

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Pharmacologic Approach to Defective Protein Trafficking in the E637K-hERG Mutant with PD-118057 and Thapsigargin.

Plos One

Mao, Haiyan H; Lu, Xiaoli X; Karush, Justin Michael JM; Huang, Xiaoyan X; Yang, Xi X; Ba, Yanna Y; Wang, Ying Y; Liu, Ningsheng N; Zhou, Jianqing J; Lian, Jiangfang J

Publication Date: 2013

Variant appearance in text: LQT2: F805C

PubMed Link: 23840331

Variant Present in the following documents:

• Main text

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Compounds that correct F508del-CFTR trafficking can also correct other protein trafficking diseases: an in vitro study using cell lines.

Orphanet Journal Of Rare Diseases

Sampson, Heidi M HM; Lam, Hung H; Chen, Pei-Chun PC; Zhang, Donglei D; Mottillo, Cristina C; Mirza, Myriam M; Qasim, Karim K; Shrier, Alvin A; Shyng, Show-Ling SL; Hanrahan, John W JW; Thomas, David Y DY

Publication Date: 2013-01-14

Variant appearance in text: HERG: F805C

PubMed Link: 23316740

Variant Present in the following documents:

• Main text
• 1750-1172-8-11.pdf

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Activation of human ether-a-go-go related gene (hERG) potassium channels by small molecules.

Acta Pharmacologica Sinica

Zhou, Ping-zheng PZ; Babcock, Joseph J; Liu, Lian-qing LQ; Li, Min M; Gao, Zhao-bing ZB

Publication Date: 2011-06

Variant appearance in text: LQT2: F805C

PubMed Link: 21623390

Variant Present in the following documents:

• Main text

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Hold me tight: Role of the heat shock protein family of chaperones in cardiac disease.

Circulation

Willis, Monte S MS; Patterson, Cam C

Publication Date: 2010-10-26

Variant appearance in text: HERG: F805C

PubMed Link: 20975010

Variant Present in the following documents:

• Main text

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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: F805C

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

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Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.

Journal Of Cardiovascular Pharmacology

Balijepalli, Sadguna Y SY; Anderson, Corey L CL; Lin, Eric C EC; January, Craig T CT

Publication Date: 2010-08

Variant appearance in text: LQT2: F805C

PubMed Link: 20224422

Variant Present in the following documents:

• Main text

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