Variant ID: 7-150648800-C-G

NM_000238.3(KCNH2):c.1681G>C;(p.A561P)

This variant was identified in 19 publications

View GRCh38 version.




Publications:


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: LQT2: A561P
PubMed Link: 35647048
Variant Present in the following documents:
  • Main text
  • fcvm-09-889519.pdf
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Urine-derived induced pluripotent/neural stem cells for modeling neurological diseases.

Cell & Bioscience
Shi, Tianyuan T; Cheung, Martin M
Publication Date: 2021-05-13

Variant appearance in text: HERG: A561P
PubMed Link: 33985584
Variant Present in the following documents:
  • Main text
  • 13578_2021_Article_594.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: LQT2: A561P
PubMed Link: 32431610
Variant Present in the following documents:
  • Main text
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Urine-Derived Induced Pluripotent Stem Cells in Cardiovascular Disease.

Cardiology Research And Practice
Huang, Ping P; Li, Yibin Y; Nasser, M I MI; Guo, Huiming H; Huang, Huanlei H; Zhao, Mingyi M; Zhu, Ping P
Publication Date: 2020

Variant appearance in text: HERG: A561P
PubMed Link: 32377426
Variant Present in the following documents:
  • Main text
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Left Ventricular Noncompaction and Congenital Heart Disease Increases the Risk of Congestive Heart Failure.

Journal Of Clinical Medicine
Hirono, Keiichi K; Hata, Yukiko Y; Miyao, Nariaki N; Okabe, Mako M; Takarada, Shinya S; Nakaoka, Hideyuki H; Ibuki, Keijiro K; Ozawa, Sayaka S; Yoshimura, Naoki N; Nishida, Naoki N; Ichida, Fukiko F; Lvnc Study Collaborators,
Publication Date: 2020-03-13

Variant appearance in text: rs199472921
PubMed Link: 32183154
Variant Present in the following documents:
  • Main text
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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: KCNH2: A561P
PubMed Link: 31963859
Variant Present in the following documents:
  • Main text
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R534C mutation in hERG causes a trafficking defect in iPSC-derived cardiomyocytes from patients with type 2 long QT syndrome.

Scientific Reports
Mesquita, Fernanda C P FCP; Arantes, Paulo C PC; Kasai-Brunswick, Tais H TH; Araujo, Dayana S DS; Gubert, Fernanda F; Monnerat, Gustavo G; Silva Dos Santos, Danúbia D; Neiman, Gabriel G; Leitão, Isabela C IC; Barbosa, Raiana A Q RAQ; Coutinho, Jorge L JL; Vaz, Isadora M IM; Dos Santos, Marcus N MN; Borgonovo, Tamara T; Cruz, Fernando E S FES; Miriuka, Santiago S; Medei, Emiliano H EH; Campos de Carvalho, Antonio C AC; Carvalho, Adriana B AB
Publication Date: 2019-12-16

Variant appearance in text: KCNH2: A561P
PubMed Link: 31844156
Variant Present in the following documents:
  • Main text
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Episomal Induced Pluripotent Stem Cells: Functional and Potential Therapeutic Applications.

Cell Transplantation
Wang, Aline Yen Ling AYL; Loh, Charles Yuen Yung CYY
Publication Date: 2019-12

Variant appearance in text: HERG: A561P
PubMed Link: 31722555
Variant Present in the following documents:
  • Main text
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Genome Editing and Induced Pluripotent Stem Cell Technologies for Personalized Study of Cardiovascular Diseases.

Current Cardiology Reports
Chun, Young Wook YW; Durbin, Matthew D MD; Hong, Charles C CC
Publication Date: 2018-04-17

Variant appearance in text: KCNH2: A561P
PubMed Link: 29666931
Variant Present in the following documents:
  • Main text
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Urine-Derived Stem Cells: The Present and the Future.

Stem Cells International
Ji, Xiaoli X; Wang, Min M; Chen, Fang F; Zhou, Junmei J
Publication Date: 2017

Variant appearance in text: HERG: A561P
PubMed Link: 29250119
Variant Present in the following documents:
  • Main text
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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: KCNH2: A561P
PubMed Link: 28573431
Variant Present in the following documents:
  • Main text
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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: LQT2: A561P
PubMed Link: 27807201
Variant Present in the following documents:
  • Main text
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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: LQT2: A561P
PubMed Link: 27335446
Variant Present in the following documents:
  • Main text
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Induced pluripotent stem cells: at the heart of cardiovascular precision medicine.

Nature Reviews. Cardiology
Chen, Ian Y IY; Matsa, Elena E; Wu, Joseph C JC
Publication Date: 2016-06

Variant appearance in text: KCNH2: A561P
PubMed Link: 27009425
Variant Present in the following documents:
  • Main text
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In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome.

Journal Of Molecular And Cellular Cardiology
Romero, Lucia L; Trenor, Beatriz B; Yang, Pei-Chi PC; Saiz, Javier J; Clancy, Colleen E CE
Publication Date: 2015-10

Variant appearance in text: LQT2: A561P
PubMed Link: 26859003
Variant Present in the following documents:
  • Main text
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Toward Personalized Medicine: Using Cardiomyocytes Differentiated From Urine-Derived Pluripotent Stem Cells to Recapitulate Electrophysiological Characteristics of Type 2 Long QT Syndrome.

Journal Of The American Heart Association
Jouni, Mariam M; Si-Tayeb, Karim K; Es-Salah-Lamoureux, Zeineb Z; Latypova, Xenia X; Champon, Benoite B; Caillaud, Amandine A; Rungoat, Anais A; Charpentier, Flavien F; Loussouarn, Gildas G; Baró, Isabelle I; Zibara, Kazem K; Lemarchand, Patricia P; Gaborit, Nathalie N
Publication Date: 2015-09-01

Variant appearance in text: HERG: A561P
PubMed Link: 26330336
Variant Present in the following documents:
  • Main text
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Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

Nature Communications
Anderson, Corey L CL; Kuzmicki, Catherine E CE; Childs, Ryan R RR; Hintz, Caleb J CJ; Delisle, Brian P BP; January, Craig T CT
Publication Date: 2014-11-24

Variant appearance in text: Kv11.1: A561P
PubMed Link: 25417810
Variant Present in the following documents:
  • Main text
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In silico screening of the impact of hERG channel kinetic abnormalities on channel block and susceptibility to acquired long QT syndrome.

Journal Of Molecular And Cellular Cardiology
Romero, Lucia L; Trenor, Beatriz B; Yang, Pei-Chi PC; Saiz, Javier J; Clancy, Colleen E CE
Publication Date: 2014-07

Variant appearance in text: HERG: A561P
PubMed Link: 24631769
Variant Present in the following documents:
  • Main text
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Pharmacological and electrophysiological characterization of nine, single nucleotide polymorphisms of the hERG-encoded potassium channel.

British Journal Of Pharmacology
Männikkö, Roope R; Overend, G G; Perrey, C C; Gavaghan, C L CL; Valentin, J-P JP; Morten, J J; Armstrong, M M; Pollard, C E CE
Publication Date: 2010-01

Variant appearance in text: KCNH2: A561P
PubMed Link: 19673885
Variant Present in the following documents:
  • Main text
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