Associated Papers
A novel homozygous CYP17A1 mutation causes partial 17 α-hydroxylase/17,20-lyase deficiency in 46,XX: a case report and literature review.
Chen H et al.
Blood Pressure, 2023
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Functional characterization of the G162R and D216H genetic variants of human CYP17A1.
Capper CP et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2018
Clinical, hormonal, ovarian, and genetic aspects of 46,XX patients with congenital adrenal hyperplasia due to CYP17A1 defects.
Carvalho LC et al.
Fertility and Sterility, 2016
A review of the literature on common CYP17A1 mutations in adults with 17-hydroxylase/17,20-lyase deficiency, a case series of such mutations among Koreans and functional characteristics of a novel mutation.
Kim YM et al.
Metabolism: Clinical and Experimental, 2014
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.
Tian Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2012
Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency.
Neres MS et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2010
Steroid 17alpha-hydroxylase deficiency: functional characterization of four mutations (A174E, V178D, R440C, L465P) in the CYP17A1 gene.
Dhir V et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Genotyping of a Chinese family with 46,XX and 46,XY 17-hydroxylase deficiency.
Tian Q et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Novel mutation in cytochrome P450c17 causes complete combined 17alpha-hydroxylase/17,20-lyase deficiency.
Bhangoo A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2008
Genotyping of five chinese patients with 17alpha-hydroxylase deficiency diagnosed through high-performance liquid chromatography serum adrenal profile: identification of two novel CYP17 mutations.
Wei JQ et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Two intronic mutations cause 17-hydroxylase deficiency by disrupting splice acceptor sites: direct demonstration of aberrant splicing and absent enzyme activity by expression of the entire CYP17 gene in HEK-293 cells.
Costa-Santos M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
Two prevalent CYP17 mutations and genotype-phenotype correlations in 24 Brazilian patients with 17-hydroxylase deficiency.
Costa-Santos M et al.
The Journal of Clinical Endocrinology and Metabolism, 2004
P450c17 deficiency in Brazilian patients: biochemical diagnosis through progesterone levels confirmed by CYP17 genotyping.
Martin RM et al.
The Journal of Clinical Endocrinology and Metabolism, 2003