Publications:

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Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Human Genetics

Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ

Publication Date: 2023-04-22

Variant appearance in text: KCNQ1: 1615C>T; Arg539Trp

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Functional Characterization of a Spectrum of Novel Romano-Ward Syndrome KCNQ1 Variants.

International Journal Of Molecular Sciences

Rinné, Susanne S; Oertli, Annemarie A; Nagel, Claudia C; Tomsits, Philipp P; Jenewein, Tina T; Kääb, Stefan S; Kauferstein, Silke S; Loewe, Axel A; Beckmann, Britt Maria BM; Decher, Niels N

Publication Date: 2023-01-10

Variant appearance in text: KCNQ1: R539W

PubMed Link: 36674868

Variant Present in the following documents:

• Main text
• ijms-24-01350.pdf

View BVdb publication page

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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: LQT1: R539W

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.pdf

View BVdb publication page

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The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: KCNQ1: 1615C>T; Arg539Trp; rs199472795

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Insights into Cardiac IKs (KCNQ1/KCNE1) Channels Regulation.

International Journal Of Molecular Sciences

Wu, Xiaoan X; Larsson, H Peter HP

Publication Date: 2020-12-11

Variant appearance in text: KCNQ1: R539W

PubMed Link: 33322401

Variant Present in the following documents:

• Main text
• ijms-21-09440.pdf

View BVdb publication page

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Atrial fibrillation-a complex polygenetic disease.

European Journal Of Human Genetics : Ejhg

Andersen, Julie H JH; Andreasen, Laura L; Olesen, Morten S MS

Publication Date: 2021-07

Variant appearance in text: KCNQ1: 1615C>T; Arg539Trp

PubMed Link: 33279945

Variant Present in the following documents:

• 41431_2020_784_MOESM3_ESM.xlsx, sheet 1

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: KCNQ1: 1615C>T; Arg539Trp

PubMed Link: 32893267

Variant Present in the following documents:

• 41436_2020_946_MOESM2_ESM.xlsx, sheet 12
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 4
• 41436_2020_946_MOESM2_ESM.xlsx, sheet 10

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: LQT1: R539W

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1
• fphar-11-00550.pdf

View BVdb publication page

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Complex and Novel Arrhythmias Precede Stillbirth in Fetuses With De Novo Long QT Syndrome.

Circulation. Arrhythmia And Electrophysiology

Strand, Sarah S; Strasburger, Janette F JF; Cuneo, Bettina F BF; Wakai, Ronald T RT

Publication Date: 2020-05

Variant appearance in text: KCNQ1: R539W

PubMed Link: 32421437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Reclassification of genetic variants in children with long QT syndrome.

Molecular Genetics & Genomic Medicine

Westphal, Dominik S DS; Burkard, Tobias T; Moscu-Gregor, Alexander A; Gebauer, Roman R; Hessling, Gabriele G; Wolf, Cordula M CM

Publication Date: 2020-09

Variant appearance in text: KCNQ1: 1615C>T; Arg539Trp

PubMed Link: 32383558

Variant Present in the following documents:

• MGG3-8-e1300-s001.xlsx, sheet 1

View BVdb publication page

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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: KCNQ1: 1615C>T; R539W

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

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Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Cell Reports

Vigilante, Alessandra A; Laddach, Anna A; Moens, Nathalie N; Meleckyte, Ruta R; Leha, Andreas A; Ghahramani, Arsham A; Culley, Oliver J OJ; Kathuria, Annie A; Hurling, Chloe C; Vickers, Alice A; Wiseman, Erika E; Tewary, Mukul M; Zandstra, Peter W PW; , ; Durbin, Richard R; Fraternali, Franca F; Stegle, Oliver O; Birney, Ewan E; Luscombe, Nicholas M NM; Danovi, Davide D; Watt, Fiona M FM

Publication Date: 2019-02-19

Variant appearance in text: KCNQ1: R539W

PubMed Link: 30784590

Variant Present in the following documents:

• mmc6.xlsx, sheet 3

View BVdb publication page

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The Crossroad of Ion Channels and Calmodulin in Disease.

International Journal Of Molecular Sciences

Urrutia, Janire J; Aguado, Alejandra A; Muguruza-Montero, Arantza A; Núñez, Eider E; Malo, Covadonga C; Casis, Oscar O; Villarroel, Alvaro A

Publication Date: 2019-01-18

Variant appearance in text: LQT1: R539W

PubMed Link: 30669290

Variant Present in the following documents:

• Main text
• ijms-20-00400.pdf

View BVdb publication page

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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: KCNQ1: R539W

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

View BVdb publication page

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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: KCNQ1: 1615C>T; Arg539Trp

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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: LQT1: R539W

PubMed Link: 27807201

Variant Present in the following documents:

• Main text

View BVdb publication page

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Molecular pathogenesis of long QT syndrome type 1.

Journal Of Arrhythmia

Wu, Jie J; Ding, Wei-Guang WG; Horie, Minoru M

Publication Date: 2016-10

Variant appearance in text: KCNQ1: R539W

PubMed Link: 27761162

Variant Present in the following documents:

• Main text
• main.pdf

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: LQT1: R539W

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: KCNQ1: R539W

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

View BVdb publication page

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Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

Frontiers In Cellular Neuroscience

Mousavi Nik, Atefeh A; Gharaie, Somayeh S; Jeong Kim, Hyo H

Publication Date: 2015

Variant appearance in text: KCNQ1: R539W

PubMed Link: 25705178

Variant Present in the following documents:

• Main text

View BVdb publication page

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PIP₂-dependent coupling is prominent in Kv7.1 due to weakened interactions between S4-S5 and S6.

Scientific Reports

Kasimova, Marina A MA; Zaydman, Mark A MA; Cui, Jianmin J; Tarek, Mounir M

Publication Date: 2015-01-06

Variant appearance in text: Kv7.1: R539W

PubMed Link: 25559286

Variant Present in the following documents:

• Main text
• srep07474.pdf
• srep07474-s1.pdf

View BVdb publication page

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Ginseng gintonin activates the human cardiac delayed rectifier K+ channel: involvement of Ca2+/calmodulin binding sites.

Molecules And Cells

Choi, Sun-Hye SH; Lee, Byung-Hwan BH; Kim, Hyeon-Joong HJ; Jung, Seok-Won SW; Kim, Hyun-Sook HS; Shin, Ho-Chul HC; Lee, Jun-Hee JH; Kim, Hyoung-Chun HC; Rhim, Hyewhon H; Hwang, Sung-Hee SH; Ha, Tal Soo TS; Kim, Hyun-Ji HJ; Cho, Hana H; Nah, Seung-Yeol SY

Publication Date: 2014-09

Variant appearance in text: KCNQ1: R539W

PubMed Link: 25234465

Variant Present in the following documents:

• Main text

View BVdb publication page

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Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.

Journal Of Cell Science

Dvir, Meidan M; Strulovich, Roi R; Sachyani, Dana D; Ben-Tal Cohen, Inbal I; Haitin, Yoni Y; Dessauer, Carmen C; Pongs, Olaf O; Kass, Robert R; Hirsch, Joel A JA; Attali, Bernard B

Publication Date: 2014-09-15

Variant appearance in text: LQT1: R539W

PubMed Link: 25037568

Variant Present in the following documents:

• Main text

View BVdb publication page

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PIP2 regulation of KCNQ channels: biophysical and molecular mechanisms for lipid modulation of voltage-dependent gating.

Frontiers In Physiology

Zaydman, Mark A MA; Cui, Jianmin J

Publication Date: 2014

Variant appearance in text: KCNQ1: R539W

PubMed Link: 24904429

Variant Present in the following documents:

• Main text
• fphys-05-00195.pdf

View BVdb publication page

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A long QT mutation substitutes cholesterol for phosphatidylinositol-4,5-bisphosphate in KCNQ1 channel regulation.

Plos One

Coyan, Fabien C FC; Abderemane-Ali, Fayal F; Amarouch, Mohamed Yassine MY; Piron, Julien J; Mordel, Jérôme J; Nicolas, Céline S CS; Steenman, Marja M; Mérot, Jean J; Marionneau, Céline C; Thomas, Annick A; Brasseur, Robert R; Baró, Isabelle I; Loussouarn, Gildas G

Publication Date: 2014

Variant appearance in text: KCNQ1: R539W

PubMed Link: 24681627

Variant Present in the following documents:

• Main text
• pone.0093255.pdf

View BVdb publication page

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In utero diagnosis of long QT syndrome by magnetocardiography.

Circulation

Cuneo, Bettina F BF; Strasburger, Janette F JF; Yu, Suhong S; Horigome, Hitoshi H; Hosono, Takayoshi T; Kandori, Akihiko A; Wakai, Ronald T RT

Publication Date: 2013-11-12

Variant appearance in text: KCNQ1: R539W

PubMed Link: 24218437

Variant Present in the following documents:

• Main text

View BVdb publication page

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Hexachlorophene is a potent KCNQ1/KCNE1 potassium channel activator which rescues LQTs mutants.

Plos One

Zheng, Yueming Y; Zhu, Xuejing X; Zhou, Pingzheng P; Lan, Xi X; Xu, Haiyan H; Li, Min M; Gao, Zhaobing Z

Publication Date: 2012

Variant appearance in text: KCNQ1: R539W

PubMed Link: 23251633

Variant Present in the following documents:

• Main text

View BVdb publication page

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Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

Journal Of The American College Of Cardiology

Crotti, Lia L; Spazzolini, Carla C; Porretta, Alessandra P AP; Dagradi, Federica F; Taravelli, Erika E; Petracci, Barbara B; Vicentini, Alessandro A; Pedrazzini, Matteo M; La Rovere, Maria Teresa MT; Vanoli, Emilio E; Goosen, Althea A; Heradien, Marshall M; George, Alfred L AL; Brink, Paul A PA; Schwartz, Peter J PJ

Publication Date: 2012-12-18

Variant appearance in text: KCNQ1: R539W

PubMed Link: 23158531

Variant Present in the following documents:

• Main text

View BVdb publication page

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Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

Bmc Cardiovascular Disorders

Stattin, Eva-Lena EL; Boström, Ida Maria IM; Winbo, Annika A; Cederquist, Kristina K; Jonasson, Jenni J; Jonsson, Björn-Anders BA; Diamant, Ulla-Britt UB; Jensen, Steen M SM; Rydberg, Annika A; Norberg, Anna A

Publication Date: 2012-10-25

Variant appearance in text: KCNQ1: 1615C>T; R539W

PubMed Link: 23098067

Variant Present in the following documents:

• Main text
• 1471-2261-12-95.pdf

View BVdb publication page

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Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

European Heart Journal

Amin, Ahmad S AS; Giudicessi, John R JR; Tijsen, Anke J AJ; Spanjaart, Anne M AM; Reckman, Yolan J YJ; Klemens, Christine A CA; Tanck, Michael W MW; Kapplinger, Jamie D JD; Hofman, Nynke N; Sinner, Moritz F MF; Müller, Martina M; Wijnen, Wino J WJ; Tan, Hanno L HL; Bezzina, Connie R CR; Creemers, Esther E EE; Wilde, Arthur A M AA; Ackerman, Michael J MJ; Pinto, Yigal M YM

Publication Date: 2012-03

Variant appearance in text: KCNQ1: R539W

PubMed Link: 22199116

Variant Present in the following documents:

View BVdb publication page

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KCNE1 enhances phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity of IKs to modulate channel activity.

Proceedings Of The National Academy Of Sciences Of The United States Of America

Li, Yang Y; Zaydman, Mark A MA; Wu, Dick D; Shi, Jingyi J; Guan, Michael M; Virgin-Downey, Brett B; Cui, Jianmin J

Publication Date: 2011-05-31

Variant appearance in text: KCNQ1: R539W

PubMed Link: 21576493

Variant Present in the following documents:

• Main text

View BVdb publication page

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Channelopathies linked to plasma membrane phosphoinositides.

Pflugers Archiv : European Journal Of Physiology

Logothetis, Diomedes E DE; Petrou, Vasileios I VI; Adney, Scott K SK; Mahajan, Rahul R

Publication Date: 2010-07

Variant appearance in text: Kv7.1: R539W

PubMed Link: 20396900

Variant Present in the following documents:

• Main text

View BVdb publication page

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Kv7.1 (KCNQ1) properties and channelopathies.

The Journal Of Physiology

Peroz, David D; Rodriguez, Nicolas N; Choveau, Frank F; Baró, Isabelle I; Mérot, Jean J; Loussouarn, Gildas G

Publication Date: 2008-04-01

Variant appearance in text: KCNQ1: R539W

PubMed Link: 18174212

Variant Present in the following documents:

• Main text

View BVdb publication page

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