Associated Papers
Successful Treatment of Infertility in a Patient with Probable 17 Hydroxylase Deficiency and Particularities of Association with Adrenal Autoimmunity-A Case Report and Review of the Literature.
Albu AI et al.
Life (basel, Switzerland), 2023
Transcriptomic signatures for human male infertility.
Hodžić A et al.
Frontiers in Molecular Biosciences, 2023
The laboratory in the multidisciplinary diagnosis of differences or disorders of sex development (DSD): III) Biochemical and genetic markers in the 46,XYIV) Proposals for the differential diagnosis of DSD.
Granada ML et al.
Advances in Laboratory Medicine, 2021
Steroidogenic electron-transfer factors and their diseases.
Miller WL
Annals of Pediatric Endocrinology & Metabolism, 2021
Isolated 17,20-Lyase Deficiency in a CYB5A Mutated Female With Normal Sexual Development and Fertility.
Leung MT et al.
Journal of the Endocrine Society, 2020
Isolated 17, 20 Lyase Deficiency Secondary to a Novel CYB5A Variant: Comparison of Steroid Metabolomic Findings with Published Cases Provides Diagnostic Guidelines and Greater Insight into Its Biological Role.
Shaunak M et al.
Hormone Research in Paediatrics, 2020
A novel mutation in CYP17A1 gene leads to congenital adrenal hyperplasia: A case report.
Nazari M et al.
International Journal of Reproductive Biomedicine, 2019
Consequences of chromsome18q deletions.
Cody JD et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2015
Differential expression of CYB5A in Chinese and European pig breeds due to genetic variations in the promoter region.
Bai Y et al.
Animal Genetics, 2015
Catalytically relevant electrostatic interactions of cytochrome P450c17 (CYP17A1) and cytochrome b5.
Peng HM et al.
The Journal of Biological Chemistry, 2014
Structures of human steroidogenic cytochrome P450 17A1 with substrates.
Petrunak EM et al.
The Journal of Biological Chemistry, 2014
The action of cytochrome b(5) on CYP2E1 and CYP2C19 activities requires anionic residues D58 and D65.
Peng HM et al.
Biochemistry, 2013
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency.
Idkowiak J et al.
The Journal of Clinical Endocrinology and Metabolism, 2012
The syndrome of 17,20 lyase deficiency.
Miller WL
The Journal of Clinical Endocrinology and Metabolism, 2012
Clinical, biochemical, and molecular characterization of macronodular adrenocortical hyperplasia of the zona reticularis: a new syndrome.
Ghayee HK et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Isolated 17,20-lyase deficiency due to the cytochrome b5 mutation W27X.
Kok RC et al.
The Journal of Clinical Endocrinology and Metabolism, 2010