Zhonghua Yi Xue Yi Chuan Xue Za Zhi
January 2023
Objective: To explore the clinical characteristics and genetic basis of two Chinese pedigrees affected with Joubert syndrome.
Methods: Clinical data of the two pedigrees was collected. Genomic DNA was extracted from peripheral blood samples and subjected to high-throughput sequencing.
Int J Clin Pharmacol Ther
August 2015
Objective: CYP3A4*1G (G > A) in human CYP3A4 intron 10 is associated with therapeutic effects of CYP3A4-metabolized drugs. The aim of this study was to predict its function in the regulation of CYP3A4 expression.
Methods: Functional analysis of the CYP3A4*1G allele was performed using bioinformatic methods and enhancer or promoter reporter assays in HepG2 cells.