Associated Papers
Proteomics, modeling, and fluorescence assays delineate cytochrome b5 residues involved in binding and stimulation of cytochrome P450 17A1 17,20-lyase.
Tateishi Y et al.
The Journal of Biological Chemistry, 2024
A Novel Compound Heterozygous CYP17A1 Variant Causes 17α-Hydroxylase/17, 20-Lyase Deficiency.
Chen H et al.
Frontiers in Genetics, 2019
A novel compound heterozygous mutation in the CYP17A1 gene in a patient with 17α-hydroxylase/17,20-lyase deficiency.
Sun M et al.
Discovery Medicine, 2017
Clinical and molecular manifestation of fifteen 17OHD patients: a novel mutation and a founder effect.
Han B et al.
Endocrine, 2016
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
The syndrome of 17,20 lyase deficiency.
Miller WL
The Journal of Clinical Endocrinology and Metabolism, 2012
Prevalence of common mutations in the CYP17A1 gene in Chinese Han population.
Bao X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
[Genetic mutation analysis of a kindred with a patient suffering from 17 alpha-hydroxylase/17, 20-lyase deficiency].
Chen Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency.
Hershkovitz E et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Functional characterization of mutant CYP17 genes isolated from a 17 alpha-hydroxylase/17,20-lyase-deficient patient.
Hahm JR et al.
Metabolism: Clinical and Experimental, 2004
Comprehensive evaluation of the association between prostate cancer and genotypes/haplotypes in CYP17A1, CYP3A4, and SRD5A2.
Loukola A et al.
European Journal of Human Genetics : Ejhg, 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
A novel compound heterozygous mutation in the CYP17 (P450 17alpha-hydroxylase) gene leading to 17alpha-hydroxylase/17,20-lyase deficiency.
Hahm JR et al.
Metabolism: Clinical and Experimental, 2003
Differential inhibition of 17alpha-hydroxylase and 17,20-lyase activities by three novel missense CYP17 mutations identified in patients with P450c17 deficiency.
Van Den Akker EL et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Towards a unifying mechanism for CYP17 mutations that cause isolated 17,20-lyase deficiency.
Auchus RJ et al.
Endocrine Research, 2002
Pitfalls in characterizing P450c17 mutations associated with isolated 17,20-lyase deficiency.
Gupta MK et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
17alpha-hydroxylase/17,20-lyase deficiency as a model to study enzymatic activity regulation: role of phosphorylation.
Biason-Lauber A et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
Congenital adrenal hyperplasia: molecular genetics and alternative approaches to treatment.
Stratakis CA et al.
Critical Reviews in Clinical Laboratory Sciences, 1999
Molecular modeling of human P450c17 (17alpha-hydroxylase/17,20-lyase): insights into reaction mechanisms and effects of mutations.
Auchus RJ et al.
Molecular Endocrinology (baltimore, Md.), 1999
P450c17 mutations R347H and R358Q selectively disrupt 17,20-lyase activity by disrupting interactions with P450 oxidoreductase and cytochrome b5.
Geller DH et al.
Molecular Endocrinology (baltimore, Md.), 1999
A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17,20-lyase deficiency.
Biason-Lauber A et al.
The Journal of Clinical Endocrinology and Metabolism, 1997