Gene mutations

TGF-β1 polymorphism 509 C>T is associated with an increased risk for hepatocellular carcinoma in HCV-infected patients

J. Ma, Liu, Y. C., Fang, Y., Cao, Y., and Liu, Z. L., “TGF-β1 polymorphism 509 C>T is associated with an increased risk for hepatocellular carcinoma in HCV-infected patients”, vol. 14, pp. 4461-4468, 2015.

Transforming growth factor-beta 1 (TGF-β1), a member of the transforming growth factor beta family, functions as a multi-functional cytokine and plays a key role in cellular growth, proliferation, and differentiation. The 509 C/T polymorphism in the TGF-β1 gene has been implicated in the outcome of hepatitis C virus (HCV) infection; however, little is known regarding the relationship between TGF-β1 gene mutations and the development of hepatocellular carcinoma (HCC) in HCV-infected patients.

Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism

S. C. Hu, Ye, J., Fathi, A. K., Fu, X., Huang, S., Ning, Q., and Luo, X. P., “Mutations in NR5A1 and PIN1 associated with idiopathic hypogonadotropic hypogonadism”, vol. 11, pp. 4575-4584, 2012.

We tested the hypothesis that mutations in NR5A1 and PIN1 cause disorders in gonadotropin-gonadal system development and function, throught direct DNA sequencing of the coding sequence and splice-sites of NR5A1 and PIN1 in 50 subjects with sporadic idiopathic hypogonadotropic hypogonadism. These patients were recruited from the Pediatrics section of Tongji Hospital, Tongji Medical College, in Wuhan, China. None of the affected subjects had clinical signs of adrenal insufficiency.

Subscribe to Gene mutations