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

New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.

Molecular genetics and genomics : MGG - 1 May 2023

Aghaei Shahrzad, Farrokhi Effat, Saffari-Chaleshtori Javad, Hoseinzadeh Marziyeh, Molavi Newsha, Hashemipour Mahin, Rostampour Noushin, Asgharzadeh Samira, Tabatabaiefar Mohammad Amin

Abstract excerpt

Disorders of sexual development (DSD) are an abnormal congenital conditions associated with atypical development of the urogenital tract and external genital structures. The steroidogenic acute regulatory (STAR) gene, associated with congenital lipoid adrenal hyperplasia (CLAH), is included in the targeted gene panel for the DSD diagnosis. Therefore, the genetic alterations of the STAR gene and their molecular...

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 Disorder of Sex Development, 46,XY

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Molecular Docking Simulation

Share to Mutation

Share to Phosphoproteins

Share to Sexual Differentiation and Disorders

Share to Steroidogenic Acute Regulatory Protein

Source

Identifiers

PMID: 37004560
DOI: 10.1007/s00438-023-02006-4

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

New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.PMID 37004560Read ↗

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

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

Thirty-Eight-Year Follow-Up of Two Sibling Lipoid Congenital Adrenal Hyperplasia Patients Due to Homozygous Steroidogenic Acute Regulatory (STARD1) Protein Mutation. Molecular Structure and Modeling of the STARD1 L275P MutationSemantic proximity Read ↗

The mechanism of specific binding of free cholesterol by the steroidogenic acute regulatory protein: evidence for a role of the C-terminal alpha-helix in the gating of the binding site.Semantic 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 ↗

Integrated Functional and Structural Analysis of Eleven <em>CYP21A2 </em>Variants of Uncertain Significance Resolves Their Pathogenic Role in Congenital Adrenal HyperplasiaSemantic proximity Read ↗

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

Steroidogenic acute regulatory protein: an update on its regulation and mechanism of action.Semantic proximity Read ↗

Phenotypic features of 46, XX females with StAR protein mutations.Semantic proximity Read ↗

Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.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 ↗

Lipoid congenital adrenal hyperplasia due to steroid acute regulatory protein (STAR) variants in Three Chinese patients.Semantic proximity Read ↗

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