MYL4 c.31G>A ;(p.E11K)

Variant ID: 17-45286819-G-A

NM_002476.2(MYL4):c.31G>A;(p.E11K)

This variant was identified in 12 publications

View GRCh38 version.




Publications:


Genetic variants, pathophysiological pathways, and oral anticoagulation in patients with hypertrophic cardiomyopathy and atrial fibrillation.

Frontiers In Cardiovascular Medicine
Wang, Shengnan S; Chen, He H; Liu, Chunju C; Wu, Mengxian M; Sun, Wanlei W; Liu, Shenjian S; Zheng, Yan Y; He, Wenfeng W
Publication Date: 2023

Variant appearance in text: MYL4: E11K
PubMed Link: 37139132
Variant Present in the following documents:
  • Main text
  • fcvm-10-1023394.pdf
View BVdb publication page



Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: MYL4: 31G>A; Glu11Lys
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Myosin light-chain 4 gene-transfer attenuates atrial fibrosis while correcting autophagic flux dysregulation.

Redox Biology
Zhong, Yuan Y; Tang, Kai K; Nattel, Stanley S; Zhai, Ming M; Gong, Shiyu S; Yu, Qing Q; Zeng, Yanxi Y; E, Guangxi G; Maimaitiaili, Nuerbiyemu N; Wang, Jun J; Xu, Yawei Y; Peng, Wenhui W; Li, Hailing H
Publication Date: 2023-01-11

Variant appearance in text: MYL4: E11k
PubMed Link: 36645977
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



The Atrium in Atrial Fibrillation - A Clinical Review on How to Manage Atrial Fibrotic Substrates.

Frontiers In Cardiovascular Medicine
Cunha, Pedro Silva PS; Laranjo, Sérgio S; Heijman, Jordi J; Oliveira, Mário Martins MM
Publication Date: 2022

Variant appearance in text: MYL4: E11K
PubMed Link: 35859594
Variant Present in the following documents:
  • Main text
  • fcvm-09-879984.pdf
View BVdb publication page



Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

Cells
van Wijk, Stan W SW; Su, Wei W; Wijdeveld, Leonoor F J M LFJM; Ramos, Kennedy S KS; Brundel, Bianca J J M BJJM
Publication Date: 2022-01-25

Variant appearance in text: MYL4: E11K
PubMed Link: 35159226
Variant Present in the following documents:
  • Main text
  • cells-11-00416.pdf
View BVdb publication page



Cytoskeletal Protein Variants Driving Atrial Fibrillation: Potential Mechanisms of Action.

Cells
van Wijk, Stan W SW; Su, Wei W; Wijdeveld, Leonoor F J M LFJM; Ramos, Kennedy S KS; Brundel, Bianca J J M BJJM
Publication Date: 2022-01-25

Variant appearance in text: MYL4: E11K
PubMed Link: 35159226
Variant Present in the following documents:
  • Main text
  • cells-11-00416.pdf
View BVdb publication page



Modeling Human Cardiac Arrhythmias: Insights from Zebrafish.

Journal Of Cardiovascular Development And Disease
Gauvrit, Sébastien S; Bossaer, Jaclyn J; Lee, Joyce J; Collins, Michelle M MM
Publication Date: 2022-01-05

Variant appearance in text: MYL4: E11K
PubMed Link: 35050223
Variant Present in the following documents:
  • Main text
View BVdb publication page



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: MYL4: 31G>A; Glu11Lys
PubMed Link: 33279945
Variant Present in the following documents:
  • 41431_2020_784_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page



Atrial Cardiomyopathy: An Unexplored Limb of Virchow's Triad for AF Stroke Prophylaxis.

Frontiers In Cardiovascular Medicine
Darlington, Ashley A; McCauley, Mark D MD
Publication Date: 2020

Variant appearance in text: MYL4: E11K
PubMed Link: 32133372
Variant Present in the following documents:
  • Main text
  • fcvm-07-00011.pdf
View BVdb publication page



Insights into myosin regulatory and essential light chains: a focus on their roles in cardiac and skeletal muscle function, development and disease.

Journal Of Muscle Research And Cell Motility
Sitbon, Yoel H YH; Yadav, Sunil S; Kazmierczak, Katarzyna K; Szczesna-Cordary, Danuta D
Publication Date: 2020-12

Variant appearance in text: MYL4: E11K
PubMed Link: 31131433
Variant Present in the following documents:
  • Main text
View BVdb publication page



Increased plasma microfibrillar-associated protein 4 is associated with atrial fibrillation and more advanced left atrial remodelling.

Archives Of Medical Science : Ams
Zhang, Xianlin X; Li, Hailing H; Kou, Wenxin W; Tang, Kai K; Zhao, Dongdong D; Zhang, Jingying J; Zhuang, Jianhui J; Zhao, Yifan Y; Ji, Shuya S; Peng, Wenhui W; Xu, Yawei Y
Publication Date: 2019-05

Variant appearance in text: MYL4: E11K
PubMed Link: 31110528
Variant Present in the following documents:
  • AMS-15-32503.pdf
View BVdb publication page



Dysfunction of Myosin Light-Chain 4 (MYL4) Leads to Heritable Atrial Cardiomyopathy With Electrical, Contractile, and Structural Components: Evidence From Genetically-Engineered Rats.

Journal Of The American Heart Association
Peng, Wenhui W; Li, Miaoxin M; Li, Hailing H; Tang, Kai K; Zhuang, Jianhui J; Zhang, Jianguo J; Xiao, Jingjing J; Jiang, Hui H; Li, Dali D; Yu, Yongchun Y; Sham, Pak C PC; Nattel, Stanley S; Xu, Yawei Y
Publication Date: 2017-10-28

Variant appearance in text: MYL4: E11K
PubMed Link: 29080865
Variant Present in the following documents:
  • Main text
  • JAH3-6-e007030.pdf
  • JAH3-6-e007030-s001.pdf
View BVdb publication page



A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.

Nature Communications
Orr, Nathan N; Arnaout, Rima R; Gula, Lorne J LJ; Spears, Danna A DA; Leong-Sit, Peter P; Li, Qiuju Q; Tarhuni, Wadea W; Reischauer, Sven S; Chauhan, Vijay S VS; Borkovich, Matthew M; Uppal, Shaheen S; Adler, Arnon A; Coughlin, Shaun R SR; Stainier, Didier Y R DYR; Gollob, Michael H MH
Publication Date: 2016-04-12

Variant appearance in text: MYL4: Glu11Lys
PubMed Link: 27066836
Variant Present in the following documents:
  • ncomms11303.pdf
View BVdb publication page