Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme.

1 May 1993

Abstract excerpt

Congenital adrenal hyperplasia (CAH) comprises a family of inherited human disorders caused by a defect in cortisol biosynthesis. We previously reported absent cholesterol side-chain cleavage enzyme cytochrome P450 (P450scc) expression in rabbits affected with CAH. Further molecular studies via Southern blotting analyses, using a full-length human P450scc cDNA probe and a cloned rabbit P450scc cDNA probe,...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adrenal Hormones and Disorders
Share to Hormonal Regulation and Hypertension
Share to Sexual Differentiation and Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 7682938
DOI: 10.1210/endo.132.5.7682938

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme.PMID 7682938Read ↗

Evidence of a steroidogenic enzyme gene dose effect on adrenal gene expression in hereditary rabbit congenital adrenal hyperplasia.Semantic proximity Read ↗

No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc.Semantic proximity Read ↗

Distinguishing deficiencies in the steroidogenic acute regulatory protein and the cholesterol side chain cleavage enzyme causing neonatal adrenal failure.Semantic proximity Read ↗

A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure.Semantic proximity Read ↗

Ontogeny of expression of the genes for steroidogenic enzymes P450 side-chain cleavage, 3 beta-hydroxysteroid dehydrogenase, P450 17 alpha-hydroxylase/C17-20 lyase, and P450 aromatase in fetal mouse gonads.Semantic proximity Read ↗

Glycosylation-dependent activity of baculovirus-expressed human liver carboxylesterases: cDNA cloning and characterization of two highly similar enzyme forms.Semantic proximity Read ↗

Genotype at the P450scc locus determines differences in the amount of P450scc protein and maximal testosterone production in mouse Leydig cells.Semantic proximity Read ↗

Cloning and expression of complementary DNAs for multiple members of the human cytochrome P450IIC subfamilySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.