Associated Papers
17α-Hydroxylase/17,20-Lyase Deficiency in 46,XY: Our Experience and Review of Literature.
Maheshwari M et al.
Journal of the Endocrine Society, 2022
Prevalence of CYP17A1 gene mutations in 17α-hydroxylase deficiency in the Chinese Han population.
Wang M et al.
Clinical Hypertension, 2019
Endocrine and molecular investigations in a cohort of 25 adolescent males with prominent/persistent pubertal gynecomastia.
Paris F et al.
Andrology, 2016
Partial deficiency of 17α-hydroxylase/17,20-lyase caused by a novel missense mutation in the canonical cytochrome heme-interacting motif.
Rubtsov P et al.
European Journal of Endocrinology, 2015
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
Structural motif-based homology modeling of CYP27A1 and site-directed mutational analyses affecting vitamin D hydroxylation.
Prosser DE et al.
Biophysical Journal, 2006
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
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
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
Mutation R96W in cytochrome P450c17 gene causes combined 17 alpha-hydroxylase/17-20-lyase deficiency in two French Canadian patients.
Laflamme N et al.
The Journal of Clinical Endocrinology and Metabolism, 1996
Genetic disorders of steroid hormone synthesis and metabolism.
New MI et al.
Bailliere's Clinical Endocrinology and Metabolism, 1995
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