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

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.

PloS one - 1 Jan 2011

Flück Christa E, Pandey Amit V, Dick Bernhard, Camats Núria, Fernández-Cancio Mónica, Clemente María, Gussinyé Miquel, Carrascosa Antonio, Mullis Primus E, Audi Laura

Abstract excerpt

CONTEXT: Steroidogenic acute regulatory protein (StAR) is crucial for transport of cholesterol to mitochondria where biosynthesis of steroids is initiated. Loss of StAR function causes lipoid congenital adrenal hyperplasia (LCAH). OBJECTIVE: StAR gene mutations causing partial loss of function manifest atypical and may be mistaken as familial glucocorticoid deficiency. Only a few mutations have been reported....

Read the complete abstract on PubMed

Topics

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

Share to Adrenal Hyperplasia, Congenital
Share to Cholesterol

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Disorder of Sex Development, 46,XY

Share to Glucocorticoids

Share to Mutant Proteins

Share to Phosphoproteins

Share to Siblings

Share to Steroidogenic Acute Regulatory Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 21647419
DOI: 10.1371/journal.pone.0020178
PMCID: PMC3103540

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.PMID 21647419Read ↗

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).Semantic proximity Read ↗

Nonclassic Congenital Lipoid Adrenal Hyperplasia: A New Disorder of the Steroidogenic Acute Regulatory Protein with Very Late Presentation and Normal Male GenitaliaSemantic proximity Read ↗

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.Semantic proximity Read ↗

Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia.Semantic proximity Read ↗

Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.Semantic proximity Read ↗

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.Semantic proximity Read ↗

A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal HyperplasiaSemantic proximity Read ↗

Clinical spectrum of human STAR variants and their genotype-phenotype correlation.Semantic proximity Read ↗

Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.Semantic proximity Read ↗

Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

A novel variant of the STAR gene: nonclassical presentation from Turkey.Semantic proximity Read ↗

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