Publications:

---

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: 193A>C; rs121912511

PubMed Link: 37324772

Variant Present in the following documents:

• Main text
• JOA3-39-430.pdf

View BVdb publication page

---

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: 193A>C; Thr65Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

---

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: T65P

PubMed Link: 36525500

Variant Present in the following documents:

• Main text
• sciadv.abq6720.pdf

View BVdb publication page

---

L51P, a novel mutation in the PAS domain of hERG channel, confers long QT syndrome by impairing channel activation.

American Journal Of Translational Research

Wang, Mi M; Gao, Min M; Fang, Senbiao S; Zheng, Ruoqian R; Peng, Daoquan D; Luo, Qin Q; Yu, Bilian B

Publication Date: 2020

Variant appearance in text: LQT2: T65P

PubMed Link: 33437379

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: KCNH2: T65P

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

---

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Walsh, Roddy R; Lahrouchi, Najim N; Tadros, Rafik R; Kyndt, Florence F; Glinge, Charlotte C; Postema, Pieter G PG; Amin, Ahmad S AS; Nannenberg, Eline A EA; Ware, James S JS; Whiffin, Nicola N; Mazzarotto, Francesco F; Škorić-Milosavljević, Doris D; Krijger, Christian C; Arbelo, Elena E; Babuty, Dominique D; Barajas-Martinez, Hector H; Beckmann, Britt M BM; Bézieau, Stéphane S; Bos, J Martijn JM; Breckpot, Jeroen J; Campuzano, Oscar O; Castelletti, Silvia S; Celen, Candan C; Clauss, Sebastian S; Corveleyn, Anniek A; Crotti, Lia L; Dagradi, Federica F; de Asmundis, Carlo C; Denjoy, Isabelle I; Dittmann, Sven S; Ellinor, Patrick T PT; Ortuño, Cristina Gil CG; Giustetto, Carla C; Gourraud, Jean-Baptiste JB; Hazeki, Daisuke D; Horie, Minoru M; Ishikawa, Taisuke T; Itoh, Hideki H; Kaneko, Yoshiaki Y; Kanters, Jørgen K JK; Kimoto, Hiroki H; Kotta, Maria-Christina MC; Krapels, Ingrid P C IPC; Kurabayashi, Masahiko M; Lazarte, Julieta J; Leenhardt, Antoine A; Loeys, Bart L BL; Lundin, Catarina C; Makiyama, Takeru T; Mansourati, Jacques J; Martins, Raphaël P RP; Mazzanti, Andrea A; Mörner, Stellan S; Napolitano, Carlo C; Ohkubo, Kimie K; Papadakis, Michael M; Rudic, Boris B; Molina, Maria Sabater MS; Sacher, Frédéric F; Sahin, Hatice H; Sarquella-Brugada, Georgia G; Sebastiano, Regina R; Sharma, Sanjay S; Sheppard, Mary N MN; Shimamoto, Keiko K; Shoemaker, M Benjamin MB; Stallmeyer, Birgit B; Steinfurt, Johannes J; Tanaka, Yuji Y; Tester, David J DJ; Usuda, Keisuke K; van der Zwaag, Paul A PA; Van Dooren, Sonia S; Van Laer, Lut L; Winbo, Annika A; Winkel, Bo G BG; Yamagata, Kenichiro K; Zumhagen, Sven S; Volders, Paul G A PGA; Lubitz, Steven A SA; Antzelevitch, Charles C; Platonov, Pyotr G PG; Odening, Katja E KE; Roden, Dan M DM; Roberts, Jason D JD; Skinner, Jonathan R JR; Tfelt-Hansen, Jacob J; van den Berg, Maarten P MP; Olesen, Morten S MS; Lambiase, Pier D PD; Borggrefe, Martin M; Hayashi, Kenshi K; Rydberg, Annika A; Nakajima, Tadashi T; Yoshinaga, Masao M; Saenen, Johan B JB; Kääb, Stefan S; Brugada, Pedro P; Robyns, Tomas T; Giachino, Daniela F DF; Ackerman, Michael J MJ; Brugada, Ramon R; Brugada, Josep J; Gimeno, Juan R JR; Hasdemir, Can C; Guicheney, Pascale P; Priori, Silvia G SG; Schulze-Bahr, Eric E; Makita, Naomasa N; Schwartz, Peter J PJ; Shimizu, Wataru W; Aiba, Takeshi T; Schott, Jean-Jacques JJ; Redon, Richard R; Ohno, Seiko S; Probst, Vincent V; , ; Behr, Elijah R ER; Barc, Julien J; Bezzina, Connie R CR

Publication Date: 2021-01

Variant appearance in text: KCNH2: 193A>C; Thr65Pro

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12

View BVdb publication page

---

A rapid solubility assay of protein domain misfolding for pathogenicity assessment of rare DNA sequence variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Anderson, Corey L CL; Routes, Tim C TC; Eckhardt, Lee L LL; Delisle, Brian P BP; January, Craig T CT; Kamp, Timothy J TJ

Publication Date: 2020-10

Variant appearance in text: Kv11.1: T65P

PubMed Link: 32475984

Variant Present in the following documents:

View BVdb publication page

---

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: T65P

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

View BVdb publication page

---

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: T65P

PubMed Link: 30988392

Variant Present in the following documents:

• Main text
• 41598_2019_Article_42331.pdf

View BVdb publication page

---

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: KCNH2: T65P

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

---

Identification of small-molecule ion channel modulators in C. elegans channelopathy models.

Nature Communications

Jiang, Qiang Q; Li, Kai K; Lu, Wen-Jing WJ; Li, Shuang S; Chen, Xin X; Liu, Xi-Juan XJ; Yuan, Jie J; Ding, Qiurong Q; Lan, Feng F; Cai, Shi-Qing SQ

Publication Date: 2018-09-26

Variant appearance in text: KCNH2: T65P

PubMed Link: 30258187

Variant Present in the following documents:

• Main text
• 41467_2018_Article_6514.pdf

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: KCNH2: 193A>C; Thr65Pro

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---

Characterization of the novel mutant A78T-HERG from a long QT syndrome type 2 patient: Instability of the mutant protein and stabilization by heat shock factor 1.

Journal Of Arrhythmia

Kondo, Takehito T; Hisatome, Ichiro I; Yoshimura, Shouichi S; Mahati, Endang E; Notsu, Tomomi T; Li, Peili P; Iitsuka, Kazuhiko K; Kato, Masaru M; Ogura, Kazuyoshi K; Miake, Junichiro J; Aiba, Takeshi T; Shimizu, Wataru W; Kurata, Yasutaka Y; Sakata, Shinji S; Nakasone, Naoe N; Ninomiya, Haruaki H; Nakai, Akira A; Higaki, Katsumi K; Kawata, Yasushi Y; Shirayoshi, Yasuaki Y; Yoshida, Akio A; Yamamoto, Kazuhiro K

Publication Date: 2016-10

Variant appearance in text: Kv11.1: T65P

PubMed Link: 27761169

Variant Present in the following documents:

• main.pdf

View BVdb publication page

---

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: T65P

PubMed Link: 27266274

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T65P

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

---

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: T65P

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

---

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: 193A>C

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

---

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: LQT2: T65P

PubMed Link: 25417810

Variant Present in the following documents:

• nihms634670.pdf

View BVdb publication page

---

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: T65P

PubMed Link: 24152733

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T65P

PubMed Link: 23840331

Variant Present in the following documents:

• pone.0065481.pdf

View BVdb publication page

---

HERG potassium channel regulation by the N-terminal eag domain.

Cellular Signalling

Gustina, Ahleah S AS; Trudeau, Matthew C MC

Publication Date: 2012-08

Variant appearance in text: LQT2: T65P

PubMed Link: 22522181

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.

Plos One

Harley, Carol A CA; Jesus, Catarina S H CS; Carvalho, Ricardo R; Brito, Rui M M RM; Morais-Cabral, João H JH

Publication Date: 2012

Variant appearance in text: HERG: T65P

PubMed Link: 22396785

Variant Present in the following documents:

• Main text
• pone.0032654.pdf

View BVdb publication page

---

Patient with syncope and LQTS carrying a mutation in the PAS domain of the hERG1 channel.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Grilo, Liliana Sintra LS; Schläpfer, Jürg J; Fellmann, Florence F; Abriel, Hugues H

Publication Date: 2011-04

Variant appearance in text: LQT2: T65P

PubMed Link: 21496174

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T65P

PubMed Link: 20670193

Variant Present in the following documents:

• Main text

View BVdb publication page

---

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: T65P

PubMed Link: 20224422

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome.

The Journal Of Biological Chemistry

Gong, Qiuming Q; Jones, Melanie A MA; Zhou, Zhengfeng Z

Publication Date: 2006-02-17

Variant appearance in text: LQT2: T65P

PubMed Link: 16361248

Variant Present in the following documents:

• Main text

View BVdb publication page

---

Clinical, genetic, and electrophysiologic characteristics of a new PAS-domain HERG mutation (M124R) causing Long QT syndrome.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc

Shushi, Liat L; Kerem, Batsheva B; Goldmit, Maya M; Peretz, Asher A; Attali, Bernard B; Medina, Aron A; Towbin, Jeffrey A JA; Kurokawa, Junko J; Kass, Robert S RS; Benhorin, Jesaia J

Publication Date: 2005-07

Variant appearance in text: HERG: T65P

PubMed Link: 16029385

Variant Present in the following documents:

• Main text

View BVdb publication page

---