Regulation of COL1A2, AKT3 genes, and related signaling pathway in the pathology of congenital talipes equinovarus.

ABSTRACT: Congenital talipes equinovarus (CTEV) is one of the most common congenital limb defects in children, which is a multifactorial and complex disease that associates with many unknown genetic, social-demographic, and environmental risk factors. Emerging evidence proved that gene expression or mutation might play an important role in the occurrence and development of CTEV. However, the underlying reasons and involved mechanisms are still not clear. Herein, to probe the potential genes and related signaling pathways involved in CTEV, we first identified the differentially expressed genes (DEGs) by mRNA sequencing in pediatric patients with CTEV compared with normal children. The gene of COL1A2 was upregulated, and AKT3 was downregulated at the transcriptional level. Western blot a

SUBMITTER: Wang N 

PROVIDER: S-EPMC9355787 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature