Associated Papers
Rare forms of congenital adrenal hyperplasia: pathogenesis, clinical, treatment and management.
Cavarzere P et al.
Journal of Endocrinological Investigation, 2025
Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia Due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency.
Çetin K et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
The Steroidogenic Acute Regulatory (STAR) Gene Anatomy, Expression, and Roles.
Lim JH et al.
Development & Reproduction, 2025
STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.
Koganti PP et al.
Biorxiv : the Preprint Server for Biology, 2025
Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.
Phadte A et al.
Clinical Endocrinology, 2024
New molecular insights into the A218V variant impact on the steroidogenic acute regulatory protein (STAR) associated with 46, XY disorders of sexual development.
Aghaei S et al.
Molecular Genetics and Genomics : Mgg, 2023
Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.
Bakkar AA et al.
Clinical Medicine Insights. Endocrinology and Diabetes, 2023
Congenital lipoid adrenal hyperplasia with Graves' disease: A case report.
Wang YJ et al.
World Journal of Clinical Cases, 2022
Adrenal hyperplasias in childhood: An update.
Pitsava G et al.
Frontiers in Endocrinology, 2022
Clinical Features of 57 Patients with Lipoid Congenital Adrenal Hyperplasia: Criteria for Nonclassic Form Revisited.
Ishii T et al.
The Journal of Clinical Endocrinology and Metabolism, 2020
Clinical and genetic characterization of congenital lipoid adrenal hyperplasia.
Ullah A et al.
Clinical Dysmorphology, 2020
Characterization of Two Novel Variants of the Steroidogenic Acute Regulatory Protein Identified in a Girl with Classic Lipoid Congenital Adrenal Hyperplasia.
Katharopoulos E et al.
International Journal of Molecular Sciences, 2020
Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant.
Balsamo A et al.
Frontiers in Pediatrics, 2020
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Mutation Spectrum of STAR and a Founder Effect of the p.Q258* in Korean Patients with Congenital Lipoid Adrenal Hyperplasia.
Kang E et al.
Molecular Medicine (cambridge, Mass.), 2017
Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.
Bizzarri C et al.
Italian Journal of Pediatrics, 2017
Genetics of Congenital Adrenal Hyperplasia.
Hannah-Shmouni F et al.
Endocrinology and Metabolism Clinics of North America, 2017
De novo disruption of promoter and exon 1 of STAR gene reveals essential role for gonadal development.
Piya A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2017
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.
Huang Z et al.
Steroids, 2016
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
Kaur J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Congenital lipoid adrenal hyperplasia.
Kim CJ
Annals of Pediatric Endocrinology & Metabolism, 2014
Shared functions of plant and mammalian StAR-related lipid transfer (START) domains in modulating transcription factor activity.
Schrick K et al.
Bmc Biology, 2014
Early steps in steroidogenesis: intracellular cholesterol trafficking.
Miller WL et al.
Journal of Lipid Research, 2011
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia.
Kim JM et al.
European Journal of Endocrinology, 2011
Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.
Flück CE et al.
Plos One, 2011
Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).
Sahakitrungruang T et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene.
Bens S et al.
The Journal of Clinical Endocrinology and Metabolism, 2010
Steroidogenic acute regulatory protein in white sturgeon (Acipenser transmontanus): cDNA cloning, sites of expression and transcript abundance in corticosteroidogenic tissue after an acute stressor.
Kusakabe M et al.
General and Comparative Endocrinology, 2009
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.
Roostaee A et al.
Bioscience Reports, 2009
Genetics of congenital adrenal hyperplasia.
Krone N et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2009
Toward the NMR structure of StAR.
Barbar E et al.
Molecular and Cellular Endocrinology, 2009
Hydrophobic core of the steroidogenic acute regulatory protein for cholesterol transport.
Bose HS et al.
Biochemistry, 2009
Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing.
Jean A et al.
Prenatal Diagnosis, 2008
A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia.
Ishizu K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2008
Phenotypic features of 46, XX females with StAR protein mutations.
Bhangoo A et al.
Pediatric Endocrinology Reviews : Per, 2007
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians.
Abdulhadi-Atwan M et al.
The Journal of Clinical Endocrinology and Metabolism, 2007
Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter.
Miller WL
Biochimica Et Biophysica Acta, 2007
Cholesterol binding does not predict activity of the steroidogenic acute regulatory protein, StAR.
Baker BY et al.
The Journal of Biological Chemistry, 2007
Phenotypic features associated with mutations in steroidogenic acute regulatory protein.
Bhangoo A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
A novel mutation L260P of the steroidogenic acute regulatory protein gene in three unrelated patients of Swiss ancestry with congenital lipoid adrenal hyperplasia.
Flück CE et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
A genetic isolate of congenital lipoid adrenal hyperplasia with atypical clinical findings.
Chen X et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Near-miss apparent SIDS from adrenal crisis.
Gassner HL et al.
The Journal of Pediatrics, 2004
[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
Molten globule structure and steroidogenic activity of N-218 MLN64 in human placental mitochondria.
Tuckey RC et al.
Endocrinology, 2004
Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein.
Stocco DM
Molecular and Cellular Endocrinology, 2002
Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia.
Bose HS et al.
The Journal of Clinical Endocrinology and Metabolism, 2000
N-218 MLN64, a protein with StAR-like steroidogenic activity, is folded and cleaved similarly to StAR.
Bose HS et al.
Biochemistry, 2000