International Journal of Molecular Sciences | |
Rare Variants in Genes Encoding |
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Ming Su3  Jizheng Wang3  Lianming Kang3  Yilu Wang1  Yubao Zou3  Xinxing Feng3  Dong Wang3  Ferhaan Ahmad2  Xianliang Zhou3  Rutai Hui3  | |
[1] Intensive Care Unit, China Meitan General Hospital, Beijing 100028, China; E-Mail:;Division of Cardiovascular Medicine, Department of Internal Medicine, University of Iowa Carver College of Medicine, Iowa City, IA, USA; E-Mail:;State Key Laboratory of Cardiovascular Diseases, Fuwai Hospital, National Center for Cardiovascular Disease, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing 100037, China; E-Mails: | |
关键词: hypertrophic cardiomyopathy; muscle ring finger protein; rare variant; modifier; | |
DOI : 10.3390/ijms15069302 | |
来源: mdpi | |
【 摘 要 】
Modifier genes contribute to the diverse clinical manifestations of hypertrophic cardiomyopathy (HCM), but are still largely unknown. Muscle ring finger (MuRF) proteins are a class of muscle-specific ubiquitin E3-ligases that appear to modulate cardiac mass and function by regulating the ubiquitin-proteasome system. In this study we screened all the three members of the MuRF family, MuRF1, MuRF2 and MuRF3, in 594 unrelated HCM patients and 307 healthy controls by targeted resequencing. Identified rare variants were confirmed by capillary Sanger sequencing. The prevalence of rare variants in both MuRF1 and MuRF2 in HCM patients was higher than that in control subjects (MuRF1 13/594 (2.2%)
【 授权许可】
CC BY
© 2014 by the authors; licensee MDPI, Basel, Switzerland.
【 预 览 】
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RO202003190025731ZK.pdf | 218KB | download |