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: 626C>T; Ser209Phe

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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Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery.

Nature Communications

Havugimana, Pierre C PC; Goel, Raghuveera Kumar RK; Phanse, Sadhna S; Youssef, Ahmed A; Padhorny, Dzmitry D; Kotelnikov, Sergei S; Kozakov, Dima D; Emili, Andrew A

Publication Date: 2022-07-13

Variant appearance in text: KCNQ1: 626C>T; Ser209Phe; rs199472704

PubMed Link: 35831314

Variant Present in the following documents:

• 41467_2022_31809_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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Structure-guided unlocking of NaX reveals a non-selective tetrodotoxin-sensitive cation channel.

Nature Communications

Noland, Cameron L CL; Chua, Han Chow HC; Kschonsak, Marc M; Heusser, Stephanie Andrea SA; Braun, Nina N; Chang, Timothy T; Tam, Christine C; Tang, Jia J; Arthur, Christopher P CP; Ciferri, Claudio C; Pless, Stephan Alexander SA; Payandeh, Jian J

Publication Date: 2022-03-17

Variant appearance in text: KCNQ1: Ser209Phe

PubMed Link: 35301303

Variant Present in the following documents:

• 41467_2022_28984_MOESM1_ESM.pdf

View BVdb publication page

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Comprehensive omic characterization of breast cancer in Mexican-Hispanic women.

Nature Communications

Romero-Cordoba, Sandra L SL; Salido-Guadarrama, Ivan I; Rebollar-Vega, Rosa R; Bautista-Piña, Veronica V; Dominguez-Reyes, Carlos C; Tenorio-Torres, Alberto A; Villegas-Carlos, Felipe F; Fernández-López, Juan C JC; Uribe-Figueroa, Laura L; Alfaro-Ruiz, Luis L; Hidalgo-Miranda, Alfredo A

Publication Date: 2021-04-14

Variant appearance in text: KCNQ1: S209F

PubMed Link: 33854067

Variant Present in the following documents:

• 41467_2021_22478_MOESM8_ESM.xlsx, sheet 3

View BVdb publication page

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KCNQ1 and Long QT Syndrome in 1/45 Amish: The Road From Identification to Implementation of Culturally Appropriate Precision Medicine.

Circulation. Genomic And Precision Medicine

Streeten, Elizabeth A EA; See, Vincent Y VY; Jeng, Linda B J LBJ; Maloney, Kristin A KA; Lynch, Megan M; Glazer, Andrew M AM; Yang, Tao T; Roden, Dan D; Pollin, Toni I TI; Daue, Melanie M; Ryan, Kathleen A KA; Van Hout, Cristopher C; Gosalia, Nehal N; Gonzaga-Jauregui, Claudia C; Economides, Aris A; Perry, James A JA; O'Connell, Jeffrey J; Beitelshees, Amber A; Palmer, Kathleen K; Mitchell, Braxton D BD; Shuldiner, Alan R AR; ,

Publication Date: 2020-12

Variant appearance in text: rs199472704

PubMed Link: 33141630

Variant Present in the following documents:

• hcg-13-e003133-s002.xls, sheet 2

View BVdb publication page

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Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.

Frontiers In Physiology

Wang, Yundi Y; Eldstrom, Jodene J; Fedida, David D

Publication Date: 2020

Variant appearance in text: KCNQ1: S209F

PubMed Link: 32581825

Variant Present in the following documents:

• Main text
• fphys-11-00504.pdf

View BVdb publication page

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mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.

Cell Reports

Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM

Publication Date: 2020-06-23

Variant appearance in text: KCNQ1: S209F

PubMed Link: 32579932

Variant Present in the following documents:

• mmc5.xlsx, sheet 3

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: KCNQ1: S209F

PubMed Link: 32431610

Variant Present in the following documents:

• Main text
• Table_1.xlsx, sheet 1

View BVdb publication page

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Regulation of IKs Potassium Current by Isoproterenol in Adult Cardiomyocytes Requires Type 9 Adenylyl Cyclase.

Cells

Li, Yong Y; Hof, Thomas T; Baldwin, Tanya A TA; Chen, Lei L; Kass, Robert S RS; Dessauer, Carmen W CW

Publication Date: 2019-08-27

Variant appearance in text: KCNQ1: S209F

PubMed Link: 31461851

Variant Present in the following documents:

• cells-08-00981.pdf

View BVdb publication page

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Mechanisms Underlying the Dual Effect of Polyunsaturated Fatty Acid Analogs on Kv7.1.

Cell Reports

Liin, Sara I SI; Yazdi, Samira S; Ramentol, Rosamary R; Barro-Soria, Rene R; Larsson, H Peter HP

Publication Date: 2018-09-11

Variant appearance in text: Kv7.1: S209F

PubMed Link: 30208316

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single channel kinetic analysis of the cAMP effect on IKs mutants, S209F and S27D/S92D.

Channels (Austin, Tex.)

Thompson, Emely E; Eldstrom, Jodene J; Fedida, David D

Publication Date: 2018

Variant appearance in text: KCNQ1: S209F

PubMed Link: 30027808

Variant Present in the following documents:

• Main text
• kchl-12-01-1499369.pdf

View BVdb publication page

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cAMP-dependent regulation of I single-channel kinetics.

The Journal Of General Physiology

Thompson, Emely E; Eldstrom, Jodene J; Westhoff, Maartje M; McAfee, Donald D; Balse, Elise E; Fedida, David D

Publication Date: 2017-08-07

Variant appearance in text: KCNQ1: S209F

PubMed Link: 28687606

Variant Present in the following documents:

• Main text
• JGP_201611734.pdf
• JGP_201611734_sm.pdf

View BVdb publication page

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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: KCNQ1: 626C>T

PubMed Link: 25649125

Variant Present in the following documents:

• 13073_2014_120_MOESM1_ESM.pdf

View BVdb publication page

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Understanding the microscopic mechanisms for LQT1 needs a global view of the I(Ks) channel.

Heart Rhythm

Tseng, Gea-Ny GN; Xu, Yu Y

Publication Date: 2015-02

Variant appearance in text: LQT1: S209F

PubMed Link: 25460172

Variant Present in the following documents:

• Main text

View BVdb publication page

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Single-channel basis for the slow activation of the repolarizing cardiac potassium current, I(Ks).

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

Werry, Daniel D; Eldstrom, Jodene J; Wang, Zhuren Z; Fedida, David D

Publication Date: 2013-03-12

Variant appearance in text: KCNQ1: S209F

PubMed Link: 23431135

Variant Present in the following documents:

• Main text

View BVdb publication page

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Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

The Journal Of General Physiology

Eldstrom, Jodene J; Xu, Hongjian H; Werry, Daniel D; Kang, Congbao C; Loewen, Matthew E ME; Degenhardt, Amanda A; Sanatani, Shubhayan S; Tibbits, Glen F GF; Sanders, Charles C; Fedida, David D

Publication Date: 2010-05

Variant appearance in text: KCNQ1: S209F

PubMed Link: 20421371

Variant Present in the following documents:

• Main text
• JGP_200910351.pdf

View BVdb publication page

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Mutation in the S3 segment of KCNQ1 results in familial lone atrial fibrillation.

Heart Rhythm

Das, Saumya S; Makino, Seiko S; Melman, Yonathan F YF; Shea, Marisa A MA; Goyal, Sanjeev B SB; Rosenzweig, Anthony A; Macrae, Calum A CA; Ellinor, Patrick T PT

Publication Date: 2009-08

Variant appearance in text: KCNQ1: S209F

PubMed Link: 19632626

Variant Present in the following documents:

• Main text

View BVdb publication page

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