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Updated: May 13, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

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GEO与定量蛋白质特征位点相结合,可以识别高性心肌病的致病蛋白质

Bo Li1,2, Xu Zhao3, Yan Ding2

  • 1Department of Endocrinology, Quanzhou First Hospital Affiliated to Fujian Medical University, Quanzhou, Fujian, China.

ESC heart failure
|May 10, 2025
PubMed
概括

这项研究确定了两种蛋白质,碳酸无水素酶3 (CA3) 和塞尔家族E成员1 (SERPINE1),因果关系与多变性心肌病 (HCM) 相关. 这些发现为这种罕见的遗传性心脏病提供了潜在的新生物标志物和治疗点.

关键词:
因果关系影响因果关系影响.基因表达总体 (GEO)过度缩性心肌病变性是一种心脏病变.蛋白质定量特征位点 (pQTL)

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