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: E637K

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: KCNH2: 1909G>A; Glu637Lys

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Pharmacological activation of the hERG K+ channel for the management of the long QT syndrome: A review.

Journal Of Arrhythmia

El Harchi, Aziza A; Brincourt, Oriane O

Publication Date: 2022-08

Variant appearance in text: LQT2: E637K

PubMed Link: 35936037

Variant Present in the following documents:

• Main text
• JOA3-38-554.pdf

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Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine

Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J

Publication Date: 2022

Variant appearance in text: KCNH2: E637K

PubMed Link: 35647048

Variant Present in the following documents:

• Main text
• fcvm-09-889519.pdf

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shRNAs Targeting a Common KCNQ1 Variant Could Alleviate Long-QT1 Disease Severity by Inhibiting a Mutant Allele.

International Journal Of Molecular Sciences

Cócera-Ortega, Lucía L; Wilders, Ronald R; Kamps, Selina C SC; Fabrizi, Benedetta B; Huber, Irit I; van der Made, Ingeborg I; van den Bout, Anouk A; de Vries, Dylan K DK; Gepstein, Lior L; Verkerk, Arie O AO; Pinto, Yigal M YM; Tijsen, Anke J AJ

Publication Date: 2022-04-06

Variant appearance in text: KCNH2: E637K

PubMed Link: 35409410

Variant Present in the following documents:

• ijms-23-04053.pdf

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Role and mechanism of chaperones calreticulin and ERP57 in restoring trafficking to mutant HERG‑A561V protein.

International Journal Of Molecular Medicine

Wu, Yujia Y; Huang, Xiaoyan X; Zheng, Zequn Z; Yang, Xi X; Ba, Yanna Y; Lian, Jiangfang J

Publication Date: 2021-08

Variant appearance in text: HERG: E637K

PubMed Link: 34212985

Variant Present in the following documents:

• Main text
• ijmm-48-02-04992.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: E637K

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

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Gene therapy for inherited arrhythmias.

Cardiovascular Research

Bezzerides, Vassilios J VJ; Prondzynski, Maksymilian M; Carrier, Lucie L; Pu, William T WT

Publication Date: 2020-07-15

Variant appearance in text: KCNH2: E637K

PubMed Link: 32321160

Variant Present in the following documents:

• Main text

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Long QT Syndrome: Genetics and Future Perspective.

Pediatric Cardiology

Wallace, Eimear E; Howard, Linda L; Liu, Min M; O'Brien, Timothy T; Ward, Deirdre D; Shen, Sanbing S; Prendiville, Terence T

Publication Date: 2019-10

Variant appearance in text: LQT2: E637K

PubMed Link: 31440766

Variant Present in the following documents:

• Main text
• 246_2019_Article_2151.pdf

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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: HERG: E637K

PubMed Link: 30988392

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42331.pdf

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On Zebrafish Disease Models and Matters of the Heart.

Biomedicines

Giardoglou, Panagiota P; Beis, Dimitris D

Publication Date: 2019-02-28

Variant appearance in text: KCNH2: E637K

PubMed Link: 30823496

Variant Present in the following documents:

• Main text

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Human ether‑à‑go‑go‑related gene mutation L539fs/47‑hERG leads to cell apoptosis through the endoplasmic reticulum stress pathway.

International Journal Of Molecular Medicine

Ma, Shuting S; Zhao, Yun Y; Cao, Miaomiao M; Sun, Chaofeng C

Publication Date: 2019-03

Variant appearance in text: KCNH2: E637K

PubMed Link: 30628647

Variant Present in the following documents:

• Main text
• ijmm-43-03-1253.pdf

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The role and mechanism of chaperones Calnexin/Calreticulin in which ALLN selectively rescues the trafficking defective of HERG-A561V mutation.

Bioscience Reports

Wang, Ying Y; Shen, Tingting T; Fang, Peiliang P; Zhou, Junbo J; Lou, Kenan K; Cen, Zemin Z; Qian, Hai H; Zhou, Jianqing J; Liu, Ningsheng N; Lian, Jiangfang J

Publication Date: 2018-10-31

Variant appearance in text: HERG: E637K

PubMed Link: 29752336

Variant Present in the following documents:

• Main text
• bsr-38-bsr20171269.pdf

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Voltage-gated sodium channels assemble and gate as dimers.

Nature Communications

Clatot, Jérôme J; Hoshi, Malcolm M; Wan, Xiaoping X; Liu, Haiyan H; Jain, Ankur A; Shinlapawittayatorn, Krekwit K; Marionneau, Céline C; Ficker, Eckhard E; Ha, Taekjip T; Deschênes, Isabelle I

Publication Date: 2017-12-12

Variant appearance in text: HERG: E637K

PubMed Link: 29233994

Variant Present in the following documents:

• 41467_2017_Article_2262.pdf

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Antiarrhythmics cure brain arrhythmia: The imperativeness of subthalamic ERG K+ channels in parkinsonian discharges.

Science Advances

Huang, Chen-Syuan CS; Wang, Guan-Hsun GH; Tai, Chun-Hwei CH; Hu, Chun-Chang CC; Yang, Ya-Chin YC

Publication Date: 2017-05

Variant appearance in text: HERG: E637K

PubMed Link: 28508055

Variant Present in the following documents:

• 1602272.pdf

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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: E637K

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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RNA interference-based therapeutics for inherited long QT syndrome.

Experimental And Therapeutic Medicine

Li, Guoliang G; Ma, Shuting S; Sun, Chaofeng C

Publication Date: 2015-08

Variant appearance in text: LQT2: E637K

PubMed Link: 26622327

Variant Present in the following documents:

• Main text

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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: E637K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

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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: E637K

PubMed Link: 25418379

Variant Present in the following documents:

• Main text

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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications

Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT

Publication Date: 2014-11-24

Variant appearance in text: HERG: E637K

PubMed Link: 25417810

Variant Present in the following documents:

• nihms634670.pdf

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Isogenic human pluripotent stem cell pairs reveal the role of a KCNH2 mutation in long-QT syndrome.

The Embo Journal

Bellin, Milena M; Casini, Simona S; Davis, Richard P RP; D'Aniello, Cristina C; Haas, Jessica J; Ward-van Oostwaard, Dorien D; Tertoolen, Leon G J LG; Jung, Christian B CB; Elliott, David A DA; Welling, Andrea A; Laugwitz, Karl-Ludwig KL; Moretti, Alessandra A; Mummery, Christine L CL

Publication Date: 2013-12-11

Variant appearance in text: HERG: E637K

PubMed Link: 24213244

Variant Present in the following documents:

• emboj2013240a.pdf

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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: E637K

PubMed Link: 23840331

Variant Present in the following documents:

• Main text
• pone.0065481.pdf

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Trafficking-deficient G572R-hERG and E637K-hERG activate stress and clearance pathways in endoplasmic reticulum.

Plos One

Wang, Ying Y; Huang, Xiaoyan X; Zhou, Jianqing J; Yang, Xi X; Li, Di D; Mao, Haiyan H; Sun, Huan Huan HH; Liu, Ningsheng N; Lian, Jiangfang J

Publication Date: 2012

Variant appearance in text: LQT2: E637K

PubMed Link: 22242185

Variant Present in the following documents:

• Main text
• pone.0029885.pdf

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