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: 478G>A; Glu160Lys

PubMed Link: 37086329

Variant Present in the following documents:

• 439_2023_2559_MOESM2_ESM.xlsx, sheet 1

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Evolutionary coupling analysis guides identification of mistrafficking-sensitive variants in cardiac K+ channels: Validation with hERG.

Frontiers In Pharmacology

Zhang, Yihong Y; Grimwood, Amy L AL; Hancox, Jules C JC; Harmer, Stephen C SC; Dempsey, Christopher E CE

Publication Date: 2022

Variant appearance in text: KCNQ1: E160K

PubMed Link: 36339618

Variant Present in the following documents:

• fphar-13-1010119.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: LQT1: E160K

PubMed Link: 36277779

Variant Present in the following documents:

• Data_Sheet_1.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: KCNQ1: E160K

PubMed Link: 35409410

Variant Present in the following documents:

• Main text
• ijms-23-04053.pdf

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A computational model of induced pluripotent stem-cell derived cardiomyocytes for high throughput risk stratification of KCNQ1 genetic variants.

Plos Computational Biology

Kernik, Divya C DC; Yang, Pei-Chi PC; Kurokawa, Junko J; Wu, Joseph C JC; Clancy, Colleen E CE

Publication Date: 2020-08

Variant appearance in text: KCNQ1: E160K

PubMed Link: 32797034

Variant Present in the following documents:

• Main text
• pcbi.1008109.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: KCNQ1: E160K

PubMed Link: 32431610

Variant Present in the following documents:

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

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Roles for Countercharge in the Voltage Sensor Domain of Ion Channels.

Frontiers In Pharmacology

Groome, James R JR; Bayless-Edwards, Landon L

Publication Date: 2020

Variant appearance in text: KCNQ1: E160K

PubMed Link: 32180723

Variant Present in the following documents:

• Main text
• fphar-11-00160.pdf

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Cell of origin and mutation pattern define three clinically distinct classes of sebaceous carcinoma.

Nature Communications

North, Jeffrey P JP; Golovato, Justin J; Vaske, Charles J CJ; Sanborn, J Zachary JZ; Nguyen, Andrew A; Wu, Wei W; Goode, Benjamin B; Stevers, Meredith M; McMullen, Kevin K; Perez White, Bethany E BE; Collisson, Eric A EA; Bloomer, Michele M; Solomon, David A DA; Benz, Stephen C SC; Cho, Raymond J RJ

Publication Date: 2018-05-14

Variant appearance in text: rs199473453

PubMed Link: 29760388

Variant Present in the following documents:

• 41467_2018_4008_MOESM3_ESM.xlsx, sheet 32

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Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Science Advances

Huang, Hui H; Kuenze, Georg G; Smith, Jarrod A JA; Taylor, Keenan C KC; Duran, Amanda M AM; Hadziselimovic, Arina A; Meiler, Jens J; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR

Publication Date: 2018-03

Variant appearance in text: KCNQ1: E160K

PubMed Link: 29532034

Variant Present in the following documents:

• Main text

View BVdb publication page

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How to Connect Cardiac Excitation to the Atomic Interactions of Ion Channels.

Biophysical Journal

Silva, Jonathan R JR

Publication Date: 2018-01-23

Variant appearance in text: KCNQ1: E160K

PubMed Link: 29401425

Variant Present in the following documents:

• main.pdf

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Exploiting ion channel structure to assess rare variant pathogenicity.

Heart Rhythm

Kroncke, Brett M BM; Yang, Tao T; Kannankeril, Prince P; Shoemaker, M Benjamin MB; Roden, Dan M DM

Publication Date: 2018-06

Variant appearance in text: KCNQ1: Glu160Lys

PubMed Link: 29330128

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: LQT1: E160K

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: KCNQ1: E160K

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 5

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Bridging the genotype-phenotype gap: what does it take?

The Journal Of Physiology

Gjuvsland, Arne B AB; Vik, Jon Olav JO; Beard, Daniel A DA; Hunter, Peter J PJ; Omholt, Stig W SW

Publication Date: 2013-04-15

Variant appearance in text: KCNQ1: E160K

PubMed Link: 23401613

Variant Present in the following documents:

• tjp0591-2055.pdf

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Ion channel associated diseases: overview of molecular mechanisms.

Chemical Reviews

Zaydman, Mark A MA; Silva, Jonathan R JR; Cui, Jianmin J

Publication Date: 2012-12-12

Variant appearance in text: KCNQ1: E160K

PubMed Link: 23151230

Variant Present in the following documents:

• Main text

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R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.

Heart Rhythm

Bartos, Daniel C DC; Duchatelet, Sabine S; Burgess, Don E DE; Klug, Didier D; Denjoy, Isabelle I; Peat, Rachel R; Lupoglazoff, Jean-Marc JM; Fressart, Véronique V; Berthet, Myriam M; Ackerman, Michael J MJ; January, Craig T CT; Guicheney, Pascale P; Delisle, Brian P BP

Publication Date: 2011-01

Variant appearance in text: LQT1: E160K

PubMed Link: 20850564

Variant Present in the following documents:

• Main text

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Multi-scale electrophysiology modeling: from atom to organ.

The Journal Of General Physiology

Silva, Jonathan R JR; Rudy, Yoram Y

Publication Date: 2010-06

Variant appearance in text: LQT1: E160K

PubMed Link: 20513759

Variant Present in the following documents:

• Main text
• JGP_200910358.pdf

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State-dependent electrostatic interactions of S4 arginines with E1 in S2 during Kv7.1 activation.

The Journal Of General Physiology

Wu, Dick D; Delaloye, Kelli K; Zaydman, Mark A MA; Nekouzadeh, Ali A; Rudy, Yoram Y; Cui, Jianmin J

Publication Date: 2010-06

Variant appearance in text: Kv7.1: E160K

PubMed Link: 20479111

Variant Present in the following documents:

• Main text
• JGP_201010408.pdf

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A multiscale model linking ion-channel molecular dynamics and electrostatics to the cardiac action potential.

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

Silva, Jonathan R JR; Pan, Hua H; Wu, Dick D; Nekouzadeh, Ali A; Decker, Keith F KF; Cui, Jianmin J; Baker, Nathan A NA; Sept, David D; Rudy, Yoram Y

Publication Date: 2009-07-07

Variant appearance in text: LQT1: E160K

PubMed Link: 19549851

Variant Present in the following documents:

• Main text

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Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

Circulation

Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A M AA; Towbin, Jeffrey A JA; Zareba, Wojciech W; Robinson, Jennifer L JL; Qi, Ming M; Vincent, G Michael GM; Ackerman, Michael J MJ; Kaufman, Elizabeth S ES; Hofman, Nynke N; Seth, Rahul R; Kamakura, Shiro S; Miyamoto, Yoshihiro Y; Goldenberg, Ilan I; Andrews, Mark L ML; McNitt, Scott S

Publication Date: 2007-05-15

Variant appearance in text: KCNQ1: E160K

PubMed Link: 17470695

Variant Present in the following documents:

• Main text

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