Publications:

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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: F29L

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

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Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetrance.

Human Molecular Genetics

Copier, Jaël S JS; Bootsma, Marianne M; Ng, Chai A CA; Wilde, Arthur A M AAM; Bertels, Robin A RA; Bikker, Hennie H; Christiaans, Imke I; van der Crabben, Saskia N SN; Hol, Janna A JA; Koopmann, Tamara T TT; Knijnenburg, Jeroen J; Lommerse, Aafke A J AAJ; van der Smagt, Jasper J JJ; Bezzina, Connie R CR; Vandenberg, Jamie I JI; Verkerk, Arie O AO; Barge-Schaapveld, Daniela Q C M DQCM; Lodder, Elisabeth M EM

Publication Date: 2022-10-21

Variant appearance in text: Kv11.1: F29L

PubMed Link: 36269083

Variant Present in the following documents:

• ddac261.pdf

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Case Report: Prenatal Whole-Exome Sequencing Identified a Novel Nonsense Mutation of the KCNH2 Gene in a Fetus With Familial 2q14.2 Duplication.

Frontiers In Genetics

Zhuang, Jianlong J; Chen, Chunnuan C; Wang, Yuanbai Y; Zeng, Shuhong S; Chen, Yu'e Y; Jiang, Yuying Y; Xie, Yingjun Y; Wang, Gaoxiong G

Publication Date: 2022

Variant appearance in text: KCNH2: F29L

PubMed Link: 35865016

Variant Present in the following documents:

• fgene-13-924573.pdf

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A standardised hERG phenotyping pipeline to evaluate KCNH2 genetic variant pathogenicity.

Clinical And Translational Medicine

Oliveira-Mendes, Barbara B; Feliciangeli, Sylvain S; Ménard, Mélissa M; Chatelain, Frank F; Alameh, Malak M; Montnach, Jérôme J; Nicolas, Sébastien S; Ollivier, Béatrice B; Barc, Julien J; Baró, Isabelle I; Schott, Jean-Jacques JJ; Probst, Vincent V; Kyndt, Florence F; Denjoy, Isabelle I; Lesage, Florian F; Loussouarn, Gildas G; De Waard, Michel M

Publication Date: 2021-11

Variant appearance in text: HERG: F29L

PubMed Link: 34841674

Variant Present in the following documents:

• CTM2-11-e609.pdf

View BVdb publication page

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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: F29L

PubMed Link: 33437379

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: 85T>C; Phe29Leu

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 10

View BVdb publication page

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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: F29L

PubMed Link: 32475984

Variant Present in the following documents:

View BVdb publication page

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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: F29L

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• fphar-11-00550.pdf

View BVdb publication page

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An International, Multicentered, Evidence-Based Reappraisal of Genes Reported to Cause Congenital Long QT Syndrome.

Circulation

Adler, Arnon A; Novelli, Valeria V; Amin, Ahmad S AS; Abiusi, Emanuela E; Care, Melanie M; Nannenberg, Eline A EA; Feilotter, Harriet H; Amenta, Simona S; Mazza, Daniela D; Bikker, Hennie H; Sturm, Amy C AC; Garcia, John J; Ackerman, Michael J MJ; Hershberger, Raymond E RE; Perez, Marco V MV; Zareba, Wojciech W; Ware, James S JS; Wilde, Arthur A M AAM; Gollob, Michael H MH

Publication Date: 2020-02-11

Variant appearance in text: KCNH2: F29L

PubMed Link: 31983240

Variant Present in the following documents:

• cir-141-418-s001.pdf

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Development of a High-Throughput Flow Cytometry Assay to Monitor Defective Trafficking and Rescue of Long QT2 Mutant hERG Channels.

Frontiers In Physiology

Kanner, Scott A SA; Jain, Ananya A; Colecraft, Henry M HM

Publication Date: 2018

Variant appearance in text: LQT2: F29L

PubMed Link: 29725305

Variant Present in the following documents:

• Main text
• fphys-09-00397.pdf

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Detecting protein variants by mass spectrometry: a comprehensive study in cancer cell-lines.

Genome Medicine

Alfaro, Javier A JA; Ignatchenko, Alexandr A; Ignatchenko, Vladimir V; Sinha, Ankit A; Boutros, Paul C PC; Kislinger, Thomas T

Publication Date: 2017-07-18

Variant appearance in text: KCNH2: F29L

PubMed Link: 28716134

Variant Present in the following documents:

• 13073_2017_454_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

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Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia.

Circulation

Hyltén-Cavallius, Louise L; Iepsen, Eva W EW; Wewer Albrechtsen, Nicolai J NJ; Svendstrup, Mathilde M; Lubberding, Anniek F AF; Hartmann, Bolette B; Jespersen, Thomas T; Linneberg, Allan A; Christiansen, Michael M; Vestergaard, Henrik H; Pedersen, Oluf O; Holst, Jens J JJ; Kanters, Jørgen K JK; Hansen, Torben T; Torekov, Signe S SS

Publication Date: 2017-05-02

Variant appearance in text: LQT2: F29L

PubMed Link: 28235848

Variant Present in the following documents:

• Main text
• cir-135-1705.pdf

View BVdb publication page

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Molecular Pathophysiology of Congenital Long QT Syndrome.

Physiological Reviews

Bohnen, M S MS; Peng, G G; Robey, S H SH; Terrenoire, C C; Iyer, V V; Sampson, K J KJ; Kass, R S RS

Publication Date: 2017-01

Variant appearance in text: LQT2: F29L

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Cardiac Delayed Rectifier Potassium Channels in Health and Disease.

Cardiac Electrophysiology Clinics

Chen, Lei L; Sampson, Kevin J KJ; Kass, Robert S RS

Publication Date: 2016-06

Variant appearance in text: LQT2: F29L

PubMed Link: 27261823

Variant Present in the following documents:

• Main text

View BVdb publication page

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Rescue of protein expression defects may not be enough to abolish the pro-arrhythmic phenotype of long QT type 2 mutations.

The Journal Of Physiology

Perry, Matthew D MD; Ng, Chai Ann CA; Phan, Kevin K; David, Erikka E; Steer, Kieran K; Hunter, Mark J MJ; Mann, Stefan A SA; Imtiaz, Mohammad M; Hill, Adam P AP; Ke, Ying Y; Vandenberg, Jamie I JI

Publication Date: 2016-07-15

Variant appearance in text: Kv11.1: F29L

PubMed Link: 26958806

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: F29L

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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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: F29L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 1

View BVdb publication page

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Getting to the heart of hERG K(+) channel gating.

The Journal Of Physiology

Perry, Matthew D MD; Ng, Chai-Ann CA; Mann, Stefan A SA; Sadrieh, Arash A; Imtiaz, Mohammad M; Hill, Adam P AP; Vandenberg, Jamie I JI

Publication Date: 2015-06-15

Variant appearance in text: HERG: F29L

PubMed Link: 25820318

Variant Present in the following documents:

• Main text

View BVdb publication page

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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: Kv11.1: F29L

PubMed Link: 25417810

Variant Present in the following documents:

• nihms634670.pdf

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MicroRNAs in cardiac arrhythmia: DNA sequence variation of MiR-1 and MiR-133A in long QT syndrome.

Scandinavian Journal Of Clinical And Laboratory Investigation

Hedley, Paula L PL; Carlsen, Anting L AL; Christiansen, Kasper M KM; Kanters, Jørgen K JK; Behr, Elijah R ER; Corfield, Valerie A VA; Christiansen, Michael M

Publication Date: 2014-09

Variant appearance in text: KCNH2: F29L

PubMed Link: 24809446

Variant Present in the following documents:

• CLB-74-485.pdf

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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: F29L

PubMed Link: 22396785

Variant Present in the following documents:

• Main text
• pone.0032654.pdf

View BVdb publication page

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