Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
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
Side-chain cleavage enzyme deficiency: Systematic review and case series.
Phadte A et al.
Clinical Endocrinology, 2023
A Novel Intronic Splice-Site Mutation of the CYP11A1 Gene Linked to Adrenal Insufficiency with 46,XY Disorder of Sex Development.
Matusik P et al.
International Journal of Environmental Research and Public Health, 2021
Predicted Benign and Synonymous Variants in CYP11A1 Cause Primary Adrenal Insufficiency Through Missplicing.
Maharaj A et al.
Journal of the Endocrine Society, 2019
Aetiological coding sequence variants in non-syndromic premature ovarian failure: From genetic linkage analysis to next generation sequencing.
Laissue P
Molecular and Cellular Endocrinology, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
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
Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.
Kim CJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2008
Cholesterol Side-Chain Cleavage Enzyme (SCC) Deficiency.
Katsumata N
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2007
Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans.
Katsumata N et al.
The Journal of Clinical Endocrinology and Metabolism, 2002