KCNQ1 c.805G>A ;(p.G269S)

Variant ID: 11-2594100-G-A

NM_000218.2(KCNQ1):c.805G>A;(p.G269S)

This variant was identified in 51 publications

View GRCh38 version.




Publications:


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: 805G>A; Gly269Ser
PubMed Link: 37086329
Variant Present in the following documents:
  • 439_2023_2559_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries.

Medrxiv : The Preprint Server For Health Sciences
, ; Chen, Siwei S; Neale, Benjamin M BM; Berkovic, Samuel F SF
Publication Date: 2023-02-24

Variant appearance in text: KCNQ1: 805G>A; Gly269Ser
PubMed Link: 36865150
Variant Present in the following documents:
  • media-2.xlsx, sheet 9
View BVdb publication page



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: G269S
PubMed Link: 36277779
Variant Present in the following documents:
  • Data_Sheet_1.pdf
View BVdb publication page



Sex Differences and Utility of Treadmill Testing in Long-QT Syndrome.

Journal Of The American Heart Association
Yee, Lauren A LA; Han, Hui-Chen HC; Davies, Brianna B; Pearman, Charles M CM; Laksman, Zachary W M ZWM; Roberts, Jason D JD; Steinberg, Christian C; Tadros, Rafik R; Cadrin-Tourigny, Julia J; Simpson, Christopher S CS; Gardner, Martin M; MacIntyre, Ciorsti C; Arbour, Laura L; Leather, Richard R; Fournier, Anne A; Green, Martin S MS; Kimber, Shane S; Angaran, Paul P; Sanatani, Shubhayan S; Joza, Jacqueline J; Khan, Habib H; Healey, Jeffrey S JS; Atallah, Joseph J; Seifer, Colette C; Krahn, Andrew D AD
Publication Date: 2022-09-20

Variant appearance in text: KCNQ1: Gly269Ser
PubMed Link: 36102233
Variant Present in the following documents:
  • JAH3-11-e025108.pdf
  • JAH3-11-e025108-s001.pdf
View BVdb publication page



Assessment of the Diagnostic Yield of Combined Cardiomyopathy and Arrhythmia Genetic Testing.

Jama Cardiology
Dellefave-Castillo, Lisa M LM; Cirino, Allison L AL; Callis, Thomas E TE; Esplin, Edward D ED; Garcia, John J; Hatchell, Kathryn E KE; Johnson, Britt B; Morales, Ana A; Regalado, Ellen E; Rojahn, Susan S; Vatta, Matteo M; Nussbaum, Robert L RL; McNally, Elizabeth M EM
Publication Date: 2022-09-01

Variant appearance in text: KCNQ1: 805G>A; Gly269Ser
PubMed Link: 35947370
Variant Present in the following documents:
  • jamacardiol-e222455-s002.xlsx, sheet 1
View BVdb publication page



Deciphering Common Long QT Syndrome Using CRISPR/Cas9 in Human-Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

Frontiers In Cardiovascular Medicine
Song, Yongfei Y; Zheng, Zequn Z; Lian, Jiangfang J
Publication Date: 2022

Variant appearance in text: LQT1: G269S
PubMed Link: 35647048
Variant Present in the following documents:
  • Main text
  • fcvm-09-889519.pdf
View BVdb publication page



Whole-genome sequencing of 1,171 elderly admixed individuals from São Paulo, Brazil.

Nature Communications
Naslavsky, Michel S MS; Scliar, Marilia O MO; Yamamoto, Guilherme L GL; Wang, Jaqueline Yu Ting JYT; Zverinova, Stepanka S; Karp, Tatiana T; Nunes, Kelly K; Ceroni, José Ricardo Magliocco JRM; de Carvalho, Diego Lima DL; da Silva Simões, Carlos Eduardo CE; Bozoklian, Daniel D; Nonaka, Ricardo R; Dos Santos Brito Silva, Nayane N; da Silva Souza, Andreia A; de Souza Andrade, Heloísa H; Passos, Marília Rodrigues Silva MRS; Castro, Camila Ferreira Bannwart CFB; Mendes-Junior, Celso T CT; Mercuri, Rafael L V RLV; Miller, Thiago L A TLA; Buzzo, Jose Leonel JL; Rego, Fernanda O FO; Araújo, Nathalia M NM; Magalhães, Wagner C S WCS; Mingroni-Netto, Regina Célia RC; Borda, Victor V; Guio, Heinner H; Rojas, Carlos P CP; Sanchez, Cesar C; Caceres, Omar O; Dean, Michael M; Barreto, Mauricio L ML; Lima-Costa, Maria Fernanda MF; Horta, Bernardo L BL; Tarazona-Santos, Eduardo E; Meyer, Diogo D; Galante, Pedro A F PAF; Guryev, Victor V; Castelli, Erick C EC; Duarte, Yeda A O YAO; Passos-Bueno, Maria Rita MR; Zatz, Mayana M
Publication Date: 2022-03-04

Variant appearance in text: KCNQ1: G269S; rs120074193
PubMed Link: 35246524
Variant Present in the following documents:
  • 41467_2022_28648_MOESM9_ESM.xlsx, sheet 1
View BVdb publication page



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: 805G>A; Gly269Ser; rs120074193
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Patient-specific induced pluripotent stem cells as "disease-in-a-dish" models for inherited cardiomyopathies and channelopathies - 15 years of research.

World Journal Of Stem Cells
Micheu, Miruna Mihaela MM; Rosca, Ana-Maria AM
Publication Date: 2021-04-26

Variant appearance in text: KCNQ1: G269S
PubMed Link: 33959219
Variant Present in the following documents:
  • Main text
View BVdb publication page



Exome sequencing and characterization of 49,960 individuals in the UK Biobank.

Nature
Van Hout, Cristopher V CV; Tachmazidou, Ioanna I; Backman, Joshua D JD; Hoffman, Joshua D JD; Liu, Daren D; Pandey, Ashutosh K AK; Gonzaga-Jauregui, Claudia C; Khalid, Shareef S; Ye, Bin B; Banerjee, Nilanjana N; Li, Alexander H AH; O'Dushlaine, Colm C; Marcketta, Anthony A; Staples, Jeffrey J; Schurmann, Claudia C; Hawes, Alicia A; Maxwell, Evan E; Barnard, Leland L; Lopez, Alexander A; Penn, John J; Habegger, Lukas L; Blumenfeld, Andrew L AL; Bai, Xiaodong X; O'Keeffe, Sean S; Yadav, Ashish A; Praveen, Kavita K; Jones, Marcus M; Salerno, William J WJ; Chung, Wendy K WK; Surakka, Ida I; Willer, Cristen J CJ; Hveem, Kristian K; Leader, Joseph B JB; Carey, David J DJ; Ledbetter, David H DH; , ; Cardon, Lon L; Yancopoulos, George D GD; Economides, Aris A; Coppola, Giovanni G; Shuldiner, Alan R AR; Balasubramanian, Suganthi S; Cantor, Michael M; , ; Nelson, Matthew R MR; Whittaker, John J; Reid, Jeffrey G JG; Marchini, Jonathan J; Overton, John D JD; Scott, Robert A RA; Abecasis, Gonçalo R GR; Yerges-Armstrong, Laura L; Baras, Aris A
Publication Date: 2020-10

Variant appearance in text: KCNQ1: 805G>A; Gly269Ser; rs120074193
PubMed Link: 33087929
Variant Present in the following documents:
  • 41586_2020_2853_MOESM11_ESM.xlsx, sheet 1
View BVdb publication page



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: 805G>A
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



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: G269S
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
View BVdb publication page



The Emergence of Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes (hiPSC-CMs) as a Platform to Model Arrhythmogenic Diseases.

International Journal Of Molecular Sciences
Pourrier, Marc M; Fedida, David D
Publication Date: 2020-01-19

Variant appearance in text: KCNQ1: G269S
PubMed Link: 31963859
Variant Present in the following documents:
  • Main text
  • ijms-21-00657.pdf
View BVdb publication page



Inherited cardiac diseases, pluripotent stem cells, and genome editing combined-the past, present, and future.

Stem Cells (Dayton, Ohio)
van den Brink, Lettine L; Grandela, Catarina C; Mummery, Christine L CL; Davis, Richard P RP
Publication Date: 2020-02

Variant appearance in text: LQT1: G269S
PubMed Link: 31664757
Variant Present in the following documents:
  • STEM-38-174-s001.pdf
View BVdb publication page



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: 805G>A; G269S
PubMed Link: 31484976
Variant Present in the following documents:
  • 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Clinical Trial in a Dish: Personalized Stem Cell-Derived Cardiomyocyte Assay Compared With Clinical Trial Results for Two QT-Prolonging Drugs.

Clinical And Translational Science
Blinova, Ksenia K; Schocken, Derek D; Patel, Dakshesh D; Daluwatte, Chathuri C; Vicente, Jose J; Wu, Joseph C JC; Strauss, David G DG
Publication Date: 2019-11

Variant appearance in text: KCNQ1: G269S
PubMed Link: 31328865
Variant Present in the following documents:
  • Main text
View BVdb publication page



The utility of the Mayo Score for predicting the yield of genetic testing in patients with hypertrophic cardiomyopathy.

Archives Of Medical Science : Ams
Bonaventura, Jiří J; Norambuena, Patricia P; Tomašov, Pavol P; Jindrová, Denisa D; Šedivá, Hana H; Macek, Milan M; Veselka, Josef J
Publication Date: 2019-05

Variant appearance in text: KCNQ1: Gly269Ser
PubMed Link: 31110529
Variant Present in the following documents:
  • AMS-15-33903-S1.pdf
View BVdb publication page



An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.

Database : The Journal Of Biological Databases And Curation
Famiglietti, M L ML; Estreicher, A A; Breuza, L L; Poux, S S; Redaschi, N N; Xenarios, I I; Bridge, A A; ,
Publication Date: 2019-01-01

Variant appearance in text: KCNQ1: 805G>A
PubMed Link: 30937429
Variant Present in the following documents:
  • famiglietti_supplementarytables1_rev_baz040.xlsx, sheet 1
View BVdb publication page



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: G269S; rs120074193
PubMed Link: 30665703
Variant Present in the following documents:
  • mmc3.xlsx, sheet 1
View BVdb publication page



The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.

Frontiers In Endocrinology
Huttunen, Heta H; Hero, Matti M; Lääperi, Mitja M; Känsäkoski, Johanna J; Swan, Heikki H; Hirsch, Joel A JA; Miettinen, Päivi J PJ; Raivio, Taneli T
Publication Date: 2018

Variant appearance in text: LQT1: Gly269Ser
PubMed Link: 29740400
Variant Present in the following documents:
  • Main text
  • fendo-09-00194.pdf
View BVdb publication page



Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.

Bmc Medical Genetics
Koponen, Mikael M; Havulinna, Aki S AS; Marjamaa, Annukka A; Tuiskula, Annukka M AM; Salomaa, Veikko V; Laitinen-Forsblom, Päivi J PJ; Piippo, Kirsi K; Toivonen, Lauri L; Kontula, Kimmo K; Viitasalo, Matti M; Swan, Heikki H
Publication Date: 2018-04-05

Variant appearance in text: KCNQ1: G269S
PubMed Link: 29622001
Variant Present in the following documents:
View BVdb publication page



A hERG mutation E1039X produced a synergistic lesion on IKs together with KCNQ1-R174C mutation in a LQTS family with three compound mutations.

Scientific Reports
Wu, Jie J; Mizusawa, Yuka Y; Ohno, Seiko S; Ding, Wei-Guang WG; Higaki, Takashi T; Wang, Qi Q; Kohjitani, Hirohiko H; Makiyama, Takeru T; Itoh, Hideki H; Toyoda, Futoshi F; James, Andrew F AF; Hancox, Jules C JC; Matsuura, Hiroshi H; Horie, Minoru M
Publication Date: 2018-02-15

Variant appearance in text: KCNQ1: G269S
PubMed Link: 29449639
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genetic variation in human drug-related genes.

Genome Medicine
Schärfe, Charlotta Pauline Irmgard CPI; Tremmel, Roman R; Schwab, Matthias M; Kohlbacher, Oliver O; Marks, Debora Susan DS
Publication Date: 2017-12-22

Variant appearance in text: KCNQ1: 805G>A; rs120074193
PubMed Link: 29273096
Variant Present in the following documents:
  • 13073_2017_502_MOESM2_ESM.xlsx, sheet 2
View BVdb publication page



Acquired Long-QT Syndrome: Mild but Abnormal?

Internal Medicine (Tokyo, Japan)
Kashiwa, Asami A; Aiba, Takeshi T
Publication Date: 2018-03-15

Variant appearance in text: KCNQ1: G269S
PubMed Link: 29225273
Variant Present in the following documents:
  • Main text
View BVdb publication page



Atrioventricular Block-induced Torsades de Pointes Associated with KCNQ1-G269S.

Internal Medicine (Tokyo, Japan)
Nakajima, Tadashi T; Sugawara, Takashi T; Kaneko, Yoshiaki Y; Kurabayashi, Masahiko M
Publication Date: 2018-03-15

Variant appearance in text: KCNQ1: G269S
PubMed Link: 29151524
Variant Present in the following documents:
  • Main text
  • 1349-7235-57-0905.pdf
View BVdb publication page



Human heart disease: lessons from human pluripotent stem cell-derived cardiomyocytes.

Cellular And Molecular Life Sciences : Cmls
Giacomelli, E E; Mummery, C L CL; Bellin, M M
Publication Date: 2017-10

Variant appearance in text: LQT1: G269S
PubMed Link: 28573431
Variant Present in the following documents:
  • Main text
  • 18_2017_Article_2546.pdf
View BVdb publication page



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: 805G>A; Gly269Ser
PubMed Link: 28569743
Variant Present in the following documents:
  • gim201760x7.xlsx, sheet 2
View BVdb publication page



Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.

Journal Of Biological Research (Thessalonike, Greece)
Ioakeimidis, Nikolaos S NS; Papamitsou, Theodora T; Meditskou, Soultana S; Iakovidou-Kritsi, Zafiroula Z
Publication Date: 2017-12

Variant appearance in text: KCNQ1: G269S
PubMed Link: 28316956
Variant Present in the following documents:
  • Main text
  • 40709_2017_Article_63.pdf
View BVdb publication page



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: G269S
PubMed Link: 27761162
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Human Induced Pluripotent Stem Cells as a Platform for Personalized and Precision Cardiovascular Medicine.

Physiological Reviews
Matsa, Elena E; Ahrens, John H JH; Wu, Joseph C JC
Publication Date: 2016-07

Variant appearance in text: KCNQ1: G269S
PubMed Link: 27335446
Variant Present in the following documents:
  • Main text
View BVdb publication page



QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

Journal Of The American Heart Association
Seethala, Srikanth S; Singh, Prabhpreet P; Shusterman, Vladimir V; Ribe, Margareth M; Haugaa, Kristina H KH; Němec, Jan J
Publication Date: 2015-12-16

Variant appearance in text: LQT1: 805G>A
PubMed Link: 26675252
Variant Present in the following documents:
  • Main text
  • JAH3-4-e002395.pdf
View BVdb publication page



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: G269S
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page



Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

Heart Rhythm
Ruwald, Martin H MH; Xu Parks, Xiaorong X; Moss, Arthur J AJ; Zareba, Wojciech W; Baman, Jayson J; McNitt, Scott S; Kanters, Jorgen K JK; Shimizu, Wataru W; Wilde, Arthur A AA; Jons, Christian C; Lopes, Coeli M CM
Publication Date: 2016-01

Variant appearance in text: LQT1: G269S
PubMed Link: 26318259
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: G269S
PubMed Link: 26206375
Variant Present in the following documents:
  • 12859_2015_673_MOESM1_ESM.xls, sheet 5
View BVdb publication page



Reprogramming and transdifferentiation for cardiovascular development and regenerative medicine: where do we stand?

Embo Molecular Medicine
Ebert, Antje D AD; Diecke, Sebastian S; Chen, Ian Y IY; Wu, Joseph C JC
Publication Date: 2015-09

Variant appearance in text: KCNQ1: G269S
PubMed Link: 26183451
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: 805G>A
PubMed Link: 25649125
Variant Present in the following documents:
  • 13073_2014_120_MOESM1_ESM.pdf
View BVdb publication page



Genome editing of isogenic human induced pluripotent stem cells recapitulates long QT phenotype for drug testing.

Journal Of The American College Of Cardiology
Wang, Yongming Y; Liang, Ping P; Lan, Feng F; Wu, Haodi H; Lisowski, Leszek L; Gu, Mingxia M; Hu, Shijun S; Kay, Mark A MA; Urnov, Fyodor D FD; Shinnawi, Rami R; Gold, Joseph D JD; Gepstein, Lior L; Wu, Joseph C JC
Publication Date: 2014-08-05

Variant appearance in text: KCNQ1: G269S
PubMed Link: 25082577
Variant Present in the following documents:
  • Main text
View BVdb publication page



Modeling inherited cardiac disorders.

Circulation Journal : Official Journal Of The Japanese Circulation Society
Sallam, Karim K; Kodo, Kazuki K; Wu, Joseph C JC
Publication Date: 2014

Variant appearance in text: KCNQ1: G269S
PubMed Link: 24632794
Variant Present in the following documents:
  • Main text
View BVdb publication page



A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.

Heart Rhythm
Bartos, Daniel C DC; Giudicessi, John R JR; Tester, David J DJ; Ackerman, Michael J MJ; Ohno, Seiko S; Horie, Minoru M; Gollob, Michael H MH; Burgess, Don E DE; Delisle, Brian P BP
Publication Date: 2014-03

Variant appearance in text: Kv7.1: G269S
PubMed Link: 24269949
Variant Present in the following documents:
  • Main text
View BVdb publication page



Sudden death by stress: how far under the nerves should we dig to find out why LQT1 patients die?

Journal Of The American College Of Cardiology
Schwartz, Peter J PJ; Volders, Paul G A PG
Publication Date: 2014-03-04

Variant appearance in text: KCNQ1: G269S
PubMed Link: 24184246
Variant Present in the following documents:
  • Main text
View BVdb publication page



Assessment of computational methods for predicting the effects of missense mutations in human cancers.

Bmc Genomics
Gnad, Florian F; Baucom, Albion A; Mukhyala, Kiran K; Manning, Gerard G; Zhang, Zemin Z
Publication Date: 2013

Variant appearance in text: KCNQ1: G269S; rs120074193
PubMed Link: 23819521
Variant Present in the following documents:
  • 1471-2164-14-S3-S7-S1.xlsx, sheet 2
View BVdb publication page



Drug screening using a library of human induced pluripotent stem cell-derived cardiomyocytes reveals disease-specific patterns of cardiotoxicity.

Circulation
Liang, Ping P; Lan, Feng F; Lee, Andrew S AS; Gong, Tingyu T; Sanchez-Freire, Veronica V; Wang, Yongming Y; Diecke, Sebastian S; Sallam, Karim K; Knowles, Joshua W JW; Wang, Paul J PJ; Nguyen, Patricia K PK; Bers, Donald M DM; Robbins, Robert C RC; Wu, Joseph C JC
Publication Date: 2013-04-23

Variant appearance in text: KCNQ1: G269S
PubMed Link: 23519760
Variant Present in the following documents:
  • Main text
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Cardiac channel molecular autopsy: insights from 173 consecutive cases of autopsy-negative sudden unexplained death referred for postmortem genetic testing.

Mayo Clinic Proceedings
Tester, David J DJ; Medeiros-Domingo, Argelia A; Will, Melissa L ML; Haglund, Carla M CM; Ackerman, Michael J MJ
Publication Date: 2012-06

Variant appearance in text: KCNQ1: G269S
PubMed Link: 22677073
Variant Present in the following documents:
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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: G269S
PubMed Link: 22199116
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A dual mechanism for I(Ks) current reduction by the pathogenic mutation KCNQ1-S277L.

Pacing And Clinical Electrophysiology : Pace
Chen, Jerri J; Weber, Michael M; Um, Sung Yon SY; Walsh, Christine A CA; Tang, Yingying Y; McDonald, Thomas V TV
Publication Date: 2011-12

Variant appearance in text: KCNQ1: G269S
PubMed Link: 21895724
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Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.

Heart Rhythm
Tester, David J DJ; Valdivia, Carmen C; Harris-Kerr, Carole C; Alders, Marielle M; Salisbury, Benjamin A BA; Wilde, Arthur A M AA; Makielski, Jonathan C JC; Ackerman, Michael J MJ
Publication Date: 2010-07

Variant appearance in text: LQT1: G269S
PubMed Link: 20403459
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Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.

Nucleic Acids Research
Ryu, Gil-Mi GM; Song, Pamela P; Kim, Kyu-Won KW; Oh, Kyung-Soo KS; Park, Keun-Joon KJ; Kim, Jong Hun JH
Publication Date: 2009-03

Variant appearance in text: KCNQ1: G269S
PubMed Link: 19139070
Variant Present in the following documents:
  • gkn1008_nar-01723-s-2008-File009.xls, sheet 3
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Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.

Annals Of Noninvasive Electrocardiology : The Official Journal Of The International Society For Holter And Noninvasive Electrocardiology, Inc
Liu, Judy F JF; Goldenberg, Ilan I; Moss, Arthur J AJ; Shimizu, Wataru W; Wilde, Arthur A AA; Hofman, Nynke N; McNitt, Scott S; Zareba, Wojciech W; Miyamato, Yoshihiro Y; Robinson, Jennifer L JL; Andrews, Mark L ML
Publication Date: 2008-07

Variant appearance in text: KCNQ1: G269S
PubMed Link: 18713323
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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: G269S
PubMed Link: 17470695
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Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy.

The Journal Of Molecular Diagnostics : Jmd
Creighton, Wendy W; Virmani, Renu R; Kutys, Robert R; Burke, Allen A
Publication Date: 2006-02

Variant appearance in text: KCNQ1: G269S
PubMed Link: 16436635
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KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

Clinical Genetics
Chen, S S; Zhang, L L; Bryant, R M RM; Vincent, G M GM; Flippin, M M; Lee, J C JC; Brown, E E; Zimmerman, F F; Rozich, R R; Szafranski, P P; Oberti, C C; Sterba, R R; Marangi, D D; Tchou, P J PJ; Chung, M K MK; Wang, Q Q
Publication Date: 2003-04

Variant appearance in text: KCNQ1: G269S
PubMed Link: 12702160
Variant Present in the following documents:
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