Publications:

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Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.

Cells

Maggi, Lorenzo L; Bonanno, Silvia S; Altamura, Concetta C; Desaphy, Jean-François JF

Publication Date: 2021-06-16

Variant appearance in text: KCNE3: R83H

PubMed Link: 34208776

Variant Present in the following documents:

• Main text
• cells-10-01521.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: KCNE3: 248G>A; Arg83His

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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Human Lung Adenocarcinoma-Derived Organoid Models for Drug Screening.

Iscience

Li, Zhichao Z; Qian, Youhui Y; Li, Wujiao W; Liu, Lisa L; Yu, Lei L; Liu, Xia X; Wu, Guodong G; Wang, Youyu Y; Luo, Weibin W; Fang, Fuyuan F; Liu, Yuchen Y; Song, Fei F; Cai, Zhiming Z; Chen, Wei W; Huang, Weiren W

Publication Date: 2020-08-21

Variant appearance in text: KCNE3: 248G>A; R83H; rs17215437

PubMed Link: 32771979

Variant Present in the following documents:

• mmc2.xls, sheet 1

View BVdb publication page

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Association study in Mexican patients with thyrotoxic hypokalemic periodic paralysis.

Biomedical Reports

Bautista-Medina, Mario Arturo MA; Gallardo-Blanco, Hugo Leonid HL; Martinez-Garza, Laura Elia LE; Cerda-Flores, Ricardo Martin RM; Lavalle-Gonzalez, Fernando Javier FJ; Villarreal-Perez, Jesus Zacarias JZ

Publication Date: 2020-10

Variant appearance in text: KCNE3: R83H; rs17215437

PubMed Link: 32765863

Variant Present in the following documents:

• Main text
• br-13-04-01331.pdf

View BVdb publication page

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The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research

Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,

Publication Date: 2020-09

Variant appearance in text: KCNE3: 248G>A; Arg83His; rs17215437

PubMed Link: 32355288

Variant Present in the following documents:

• 41422_2020_322_MOESM14_ESM.xlsx, sheet 1

View BVdb publication page

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Reanalysis and reclassification of rare genetic variants associated with inherited arrhythmogenic syndromes.

Ebiomedicine

Campuzano, Oscar O; Sarquella-Brugada, Georgia G; Fernandez-Falgueras, Anna A; Coll, Mónica M; Iglesias, Anna A; Ferrer-Costa, Carles C; Cesar, Sergi S; Arbelo, Elena E; García-Álvarez, Ana A; Jordà, Paloma P; Toro, Rocío R; Tiron de Llano, Coloma C; Grassi, Simone S; Oliva, Antonio A; Brugada, Josep J; Brugada, Ramon R

Publication Date: 2020-04

Variant appearance in text: KCNE3: 248G>A; Arg83His; rs17215437

PubMed Link: 32268277

Variant Present in the following documents:

• Main text
• main.pdf

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: KCNE3: 248G>A; Arg83His

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

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Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.

Scientific Reports

Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE

Publication Date: 2017-04-25

Variant appearance in text: KCNE3: R83H; rs17215437

PubMed Link: 28440294

Variant Present in the following documents:

• srep46105-s2.xls, sheet 6
• srep46105-s2.xls, sheet 8

View BVdb publication page

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Targeted deletion of Kcne3 impairs skeletal muscle function in mice.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

King, Elizabeth C EC; Patel, Vishal V; Anand, Marie M; Zhao, Xiaoli X; Crump, Shawn M SM; Hu, Zhaoyang Z; Weisleder, Noah N; Abbott, Geoffrey W GW

Publication Date: 2017-07

Variant appearance in text: KCNE3: R83H

PubMed Link: 28356343

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: rs17215437

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

View BVdb publication page

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KCNE1 and KCNE3: The yin and yang of voltage-gated K(+) channel regulation.

Gene

Abbott, Geoffrey W GW

Publication Date: 2016-01-15

Variant appearance in text: KCNE3: R83H

PubMed Link: 26410412

Variant Present in the following documents:

• Main text

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: KCNE3: R83H

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

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Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions.

Plos One

Yu, Fuli F; Lu, Jian J; Liu, Xiaoming X; Gazave, Elodie E; Chang, Diana D; Raj, Srilakshmi S; Hunter-Zinck, Haley H; Blekhman, Ran R; Arbiza, Leonardo L; Van Hout, Cris C; Morrison, Alanna A; Johnson, Andrew D AD; Bis, Joshua J; Cupples, L Adrienne LA; Psaty, Bruce M BM; Muzny, Donna D; Yu, Jin J; Gibbs, Richard A RA; Keinan, Alon A; Clark, Andrew G AG; Boerwinkle, Eric E

Publication Date: 2015

Variant appearance in text: KCNE3: R83H; rs17215437

PubMed Link: 25807536

Variant Present in the following documents:

• pone.0121644.s002.xls, sheet 1

View BVdb publication page

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Whole-genome sequencing of the world's oldest people.

Plos One

Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK

Publication Date: 2014

Variant appearance in text: KCNE3: R83H; rs17215437

PubMed Link: 25390934

Variant Present in the following documents:

• pone.0112430.s004.xlsx, sheet 1

View BVdb publication page

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A probabilistic model to predict clinical phenotypic traits from genome sequencing.

Plos Computational Biology

Chen, Yun-Ching YC; Douville, Christopher C; Wang, Cheng C; Niknafs, Noushin N; Yeo, Grace G; Beleva-Guthrie, Violeta V; Carter, Hannah H; Stenson, Peter D PD; Cooper, David N DN; Li, Biao B; Mooney, Sean S; Karchin, Rachel R

Publication Date: 2014-09

Variant appearance in text: KCNE3: R83H

PubMed Link: 25188385

Variant Present in the following documents:

• pcbi.1003825.s014.xlsx, sheet 1

View BVdb publication page

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Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: KCNE3: R83H; rs17215437

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page

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The genetic landscape of high-risk neuroblastoma.

Nature Genetics

Pugh, Trevor J TJ; Morozova, Olena O; Attiyeh, Edward F EF; Asgharzadeh, Shahab S; Wei, Jun S JS; Auclair, Daniel D; Carter, Scott L SL; Cibulskis, Kristian K; Hanna, Megan M; Kiezun, Adam A; Kim, Jaegil J; Lawrence, Michael S MS; Lichenstein, Lee L; McKenna, Aaron A; Pedamallu, Chandra Sekhar CS; Ramos, Alex H AH; Shefler, Erica E; Sivachenko, Andrey A; Sougnez, Carrie C; Stewart, Chip C; Ally, Adrian A; Birol, Inanc I; Chiu, Readman R; Corbett, Richard D RD; Hirst, Martin M; Jackman, Shaun D SD; Kamoh, Baljit B; Khodabakshi, Alireza Hadj AH; Krzywinski, Martin M; Lo, Allan A; Moore, Richard A RA; Mungall, Karen L KL; Qian, Jenny J; Tam, Angela A; Thiessen, Nina N; Zhao, Yongjun Y; Cole, Kristina A KA; Diamond, Maura M; Diskin, Sharon J SJ; Mosse, Yael P YP; Wood, Andrew C AC; Ji, Lingyun L; Sposto, Richard R; Badgett, Thomas T; London, Wendy B WB; Moyer, Yvonne Y; Gastier-Foster, Julie M JM; Smith, Malcolm A MA; Guidry Auvil, Jaime M JM; Gerhard, Daniela S DS; Hogarty, Michael D MD; Jones, Steven J M SJ; Lander, Eric S ES; Gabriel, Stacey B SB; Getz, Gad G; Seeger, Robert C RC; Khan, Javed J; Marra, Marco A MA; Meyerson, Matthew M; Maris, John M JM

Publication Date: 2013-03

Variant appearance in text: KCNE3: 248G>A; R83H; rs17215437

PubMed Link: 23334666

Variant Present in the following documents:

• NIHMS474900-supplement-8.xlsx, sheet 1
• NIHMS474900-supplement-8.xlsx, sheet 2

View BVdb publication page

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Spectrum and prevalence of mutations involving BrS1- through BrS12-susceptibility genes in a cohort of unrelated patients referred for Brugada syndrome genetic testing: implications for genetic testing.

Journal Of The American College Of Cardiology

Crotti, Lia L; Marcou, Cherisse A CA; Tester, David J DJ; Castelletti, Silvia S; Giudicessi, John R JR; Torchio, Margherita M; Medeiros-Domingo, Argelia A; Simone, Savastano S; Will, Melissa L ML; Dagradi, Federica F; Schwartz, Peter J PJ; Ackerman, Michael J MJ

Publication Date: 2012-10-09

Variant appearance in text: KCNE3: R83H

PubMed Link: 22840528

Variant Present in the following documents:

• Main text

View BVdb publication page

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The KCNE genes in hypertrophic cardiomyopathy: a candidate gene study.

Journal Of Negative Results In Biomedicine

Hedley, Paula L PL; Haundrup, Ole O; Andersen, Paal S PS; Aidt, Frederik H FH; Jensen, Morten M; Moolman-Smook, Johanna C JC; Bundgaard, Henning H; Christiansen, Michael M

Publication Date: 2011-10-03

Variant appearance in text: KCNE3: 248G>A; R83H; rs17215437

PubMed Link: 21967835

Variant Present in the following documents:

• Main text

View BVdb publication page

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Deep resequencing of the voltage-gated potassium channel subunit KCNE3 gene in chronic tinnitus.

Behavioral And Brain Functions : Bbf

Sand, Philipp G PG; Langguth, Berthold B; Kleinjung, Tobias T

Publication Date: 2011-09-07

Variant appearance in text: KCNE3: R83H; rs17215437

PubMed Link: 21899751

Variant Present in the following documents:

• Main text
• 1744-9081-7-39.pdf

View BVdb publication page

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Disruption of the K+ channel beta-subunit KCNE3 reveals an important role in intestinal and tracheal Cl- transport.

The Journal Of Biological Chemistry

Preston, Patricia P; Wartosch, Lena L; Günzel, Dorothee D; Fromm, Michael M; Kongsuphol, Patthara P; Ousingsawat, Jiraporn J; Kunzelmann, Karl K; Barhanin, Jacques J; Warth, Richard R; Jentsch, Thomas J TJ

Publication Date: 2010-03-05

Variant appearance in text: KCNE3: R83H

PubMed Link: 20051516

Variant Present in the following documents:

• Main text

View BVdb publication page

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Muscle channelopathies and electrophysiological approach.

Annals Of Indian Academy Of Neurology

Cherian, Ajith A; Baheti, Neeraj N NN; Kuruvilla, Abraham A

Publication Date: 2008-01

Variant appearance in text: KCNE3: Arg83His

PubMed Link: 19966974

Variant Present in the following documents:

• Main text
• AIAN-11-20.pdf

View BVdb publication page

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Potassium channel gene mutations rarely cause atrial fibrillation.

Bmc Medical Genetics

Ellinor, Patrick T PT; Petrov-Kondratov, Vadim I VI; Zakharova, Elena E; Nam, Edwin G EG; MacRae, Calum A CA

Publication Date: 2006-08-03

Variant appearance in text: KCNE3: R83H

PubMed Link: 16887036

Variant Present in the following documents:

• Main text

View BVdb publication page

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Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.

Journal Of Molecular Medicine (Berlin, Germany)

Wang, Qiufen Q; Liu, Mugen M; Xu, Chunsheng C; Tang, Zhaohui Z; Liao, Yuhua Y; Du, Rong R; Li, Wei W; Wu, Xiaoyan X; Wang, Xu X; Liu, Ping P; Zhang, Xianqin X; Zhu, Jianfang J; Ren, Xiang X; Ke, Tie T; Wang, Qing Q; Yang, Junguo J

Publication Date: 2005-03

Variant appearance in text: KCNE3: Arg83His

PubMed Link: 15726306

Variant Present in the following documents:

• Main text

View BVdb publication page

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Thyrotoxic periodic paralysis: an overview.

Annals Of Saudi Medicine

Hsieh, Chang-Hsun CH; Kuo, Shi-Wen SW; Pei, Dee D; Hung, Yi-Jen YJ; Chyi-Fan, Sandra S; Wu, Ling-I LI; He, Chih-Tsueng CT; Yang, Tsao-Chin TC; Lian, Wei-Cheng WC; Chien-Hsing, Lee L

Publication Date: 2004

Variant appearance in text: KCNE3: R83H

PubMed Link: 15646156

Variant Present in the following documents:

• asm-6-418.pdf

View BVdb publication page

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MinK-related peptide 2 modulates Kv2.1 and Kv3.1 potassium channels in mammalian brain.

The Journal Of Neuroscience : The Official Journal Of The Society For Neuroscience

McCrossan, Zoe A ZA; Lewis, Anthony A; Panaghie, Gianina G; Jordan, Peter N PN; Christini, David J DJ; Lerner, Daniel J DJ; Abbott, Geoffrey W GW

Publication Date: 2003-09-03

Variant appearance in text: MiRP2: R83H

PubMed Link: 12954870

Variant Present in the following documents:

• Main text

View BVdb publication page

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