Associated Papers
Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview.
Nowak Z et al.
Children (basel, Switzerland), 2024
A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia.
Alhamoudi KM et al.
Heliyon, 2024
39157388 (PubMed )
Supplement: mmc1.docx
Side-chain cleavage enzyme deficiency: Systematic review and case series.
Phadte A et al.
Clinical Endocrinology, 2023
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
Ali N et al.
Frontiers in Endocrinology, 2022
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A et al.
Journal of the Endocrine Society, 2019
30620006 (PubMed )
Supplement: js.2018-00130.st1.docx
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Cytochromes p450: roles in diseases.
Pikuleva IA et al.
The Journal of Biological Chemistry, 2013
Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc.
Tee MK et al.
The Journal of Clinical Endocrinology and Metabolism, 2013
A novel entity of clinically isolated adrenal insufficiency caused by a partially inactivating mutation of the gene encoding for P450 side chain cleavage enzyme (CYP11A1).
Parajes S et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.
Sahakitrungruang T et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
P450 side-chain cleavage deficiency--a rare cause of congenital adrenal hyperplasia.
Hauffa B et al.
Endocrine Development, 2011
A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient.
Rubtsov P et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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