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

Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome.

Developmental neuroscience - 1 Jan 2005

Waage-Baudet H, Dunty W C, Dehart D B, Hiller S, Sulik K K

Abstract excerpt

The Smith-Lemli-Opitz syndrome is a mental retardation/malformation syndrome with behavioral components of autism. It is caused by a deficiency in 3beta-hydroxysteroid-Delta7-reductase (DHCR7), the enzyme required for the terminal enzymatic step of cholesterol biosynthesis. The availability of Smith-Lemli-Opitz syndrome mouse models has made it possible to investigate the genesis of the malformations associated...

Read the complete abstract on PubMed

Topics

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

Share to Cues
Share to Growth Cones
Share to Nervous System Malformations

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Netrin-1

Share to Neural Pathways

Share to Oxidoreductases Acting on CH-CH Group Donors

Share to Rhombencephalon

Share to Smith-Lemli-Opitz Syndrome

Source

Identifiers

PMID: 16280635
DOI: 10.1159/000088453

Genes

DHCR7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Immunohistochemical and microarray analyses of a mouse model for the smith-lemli-opitz syndrome.PMID 16280635Read ↗

Temporal transcriptomic changes during neurodevelopment in a mouse model of Smith-Lemli-Opitz syndromeSemantic proximity Read ↗

Smith-Lemli-Opitz syndrome.Semantic proximity Read ↗

Development and characterization of a hypomorphic Smith-Lemli-Opitz syndrome mouse model and efficacy of simvastatin therapy.Semantic proximity Read ↗

Cholesterol homeostasis in development: the role of Xenopus 7-dehydrocholesterol reductase (Xdhcr7) in neural development.Semantic proximity Read ↗

7-Dehydrocholesterol-derived oxysterols cause neurogenic defects in Smith-Lemli-Opitz syndromeSemantic proximity Read ↗

Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.Semantic proximity Read ↗

Partial rescue of neonatal lethality of Dhcr7 null mice by a nestin promoter-driven DHCR7 transgene expression.Semantic proximity Read ↗

Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.Semantic proximity Read ↗

Abnormal serotonergic development in a mouse model for the Smith-Lemli-Opitz syndrome: implications for autism.Semantic proximity Read ↗

Smith-Lemli-Opitz syndrome and the DHCR7 gene.Semantic proximity Read ↗

RSH/Smith-Lemli-Opitz syndrome: a multiple congenital anomaly/mental retardation syndrome due to an inborn error of cholesterol biosynthesis.Semantic proximity Read ↗

The Smith-Lemli-Opitz syndrome: a novel metabolic way of understanding developmental biology, embryogenesis, and dysmorphology.Semantic proximity Read ↗

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