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

Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.

Journal of lipid research - 1 Jun 2005

Cunningham David, Swartzlander Daniel, Liyanarachchi Sandya, Davuluri Ramana V, Herman Gail E

Abstract excerpt

Seven human disorders of postsqualene cholesterol biosynthesis have been described. One of these, congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome, results from mutations in the X-linked gene NADH sterol dehydrogenase-like (NSDHL) encoding a sterol dehydrogenase. A series of mutant alleles of the murine Nsdhl gene are carried by bare patches (Bpa) mice, with Bpa(1H) representing...

Read the complete abstract on PubMed

Topics

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

Share to 3-Hydroxysteroid Dehydrogenases
Share to Cell Separation

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

Share to Cholesterol

Share to Down-Regulation

Share to Green Fluorescent Proteins

Share to Hydroxysteroid Dehydrogenases

Share to Mice, Inbred CBA

Share to Up-Regulation

Source

Identifiers

PMID: 15805545
DOI: 10.1194/jlr.M400462-JLR200

Genes

NSDHL

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 · 10 closest

Changes in gene expression associated with loss of function of the NSDHL sterol dehydrogenase in mouse embryonic fibroblasts.PMID 15805545Read ↗

The gene mutated in bare patches and striated mice encodes a novel 3beta-hydroxysteroid dehydrogenase.Semantic proximity Read ↗

NSDHL, an enzyme involved in cholesterol biosynthesis, traffics through the Golgi and accumulates on ER membranes and on the surface of lipid droplets.Semantic proximity Read ↗

Mutations in the NSDHL gene, encoding a 3beta-hydroxysteroid dehydrogenase, cause CHILD syndrome.Semantic proximity Read ↗

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos.Semantic proximity Read ↗

Identification of two novel mutations in the murine Nsdhl sterol dehydrogenase gene and development of a functional complementation assay in yeast.Semantic proximity Read ↗

Localization of mammalian NAD(P)H steroid dehydrogenase-like protein on lipid droplets.Semantic proximity Read ↗

NSDHL Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi.Semantic proximity Read ↗

Loss of fumarylacetoacetate hydrolase is responsible for the neonatal hepatic dysfunction phenotype of lethal albino mice.Semantic proximity Read ↗

Left‐sided CHILD syndrome caused by a nonsense mutation in the <i>NSDHL</i> geneSemantic proximity Read ↗

Embryonic prostaglandin H synthase-2 (PHS-2) expression and benzo[a]pyrene teratogenicity in PHS-2 knockout mice.Semantic proximity Read ↗

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