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Article

Identification of variants of ISL1 gene promoter and cellular functions in isolated ventricular septal defects.

American journal of physiology. Cell physiology - 1 Sept 2021

Zheng Si-Qiang, Chen Huan-Xin, Liu Xiao-Cheng, Yang Qin, He Guo-Wei

Abstract excerpt

Ventricular septal defects (VSDs) are the most common congenital heart defects (CHDs). Studies have documented that ISL1 has a crucial impact on cardiac growth, but the role of variants in the ISL1 gene promoter in patients with VSD has not been explored. In 400 subjects (200 patients with isolated and sporadic VSDs: 200 healthy controls), we investigated the ISL1 gene promoter variant and performed cellular...

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PMID: 34260301
DOI: 10.1152/ajpcell.00167.2021

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