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Updated: Jun 5, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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作为家族性肺动脉高血压的新型基因,SMAD5

Ding Cao1,2, Ekkehard Grünig1, Yuriy Sirenko3

  • 1Center for Pulmonary Hypertension, Thoraxklinik Heidelberg gGmbH at Heidelberg University Hospital, Translational Lung Research Center Heidelberg (TLRC), German Center for Lung Research (DZL), Heidelberg, Germany.

Clinical science (London, England : 1979)
|December 4, 2024
PubMed
概括

基因测试在肺动脉高血压 (PAH) 患者中发现了两个SMAD5基因变异. 这些变异影响细胞活力和增殖,这表明SMAD5是PAH诊断的潜在新基因.

关键词:
在 BMPR2 路径中.遗传学 遗传学 遗传学 是一个肺动脉高血压 肺动脉高血压

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