Associated Papers
The Steroidogenic Acute Regulatory (STAR) Gene Anatomy, Expression, and Roles.
Lim JH et al.
Development & Reproduction, 2025
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.
Koganti PP et al.
Biorxiv : the Preprint Server for Biology, 2025
New Insight into Pathogenic Variant p.L275P on the Structure and Function of Steroidogenic Acute Regulatory Protein (STAR) Through Molecular Dynamics Simulation.
Aghaei S et al.
Advanced Biomedical Research, 2025
Clinical spectrum of human STAR variants and their genotype-phenotype correlation.
Altinkilic EM et al.
The Journal of Endocrinology, 2024
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
Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review.
Lu W et al.
Frontiers in Endocrinology, 2022
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
Nonclassic congenital lipoid adrenal hyperplasia diagnosed at 17 months in a Korean boy with normal male genitalia: emphasis on pigmentation as a diagnostic clue.
Bae H et al.
Annals of Pediatric Endocrinology & Metabolism, 2020
Long-term follow-up in a Chinese child with congenital lipoid adrenal hyperplasia due to a StAR gene mutation.
Zhao X et al.
Bmc Endocrine Disorders, 2018
A Case of Two Sisters Suffering from 46,XY Gonadal Dysgenesis and Carrying a Mutation of a Novel Candidate Sex-Determining Gene STARD8 on the X Chromosome.
Ilaslan E et al.
Sexual Development : Genetics, Molecular Biology, Evolution, Endocrinology, Embryology, and Pathology of Sex Determination and Differentiation, 2018
Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report.
Albarel F et al.
Human Reproduction (oxford, England), 2016
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 Mutation.
Khoury K et al.
Frontiers in Neuroscience, 2016
[Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia].
Xie T et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Ovarian cyst torsion in a patient with congenital lipoid adrenal hyperplasia.
Jin HY et al.
European Journal of Pediatrics, 2011
Functional and physiological consequences of StAR deficiency: role in lipoid congenital adrenal hyperplasia.
King SR et al.
Endocrine Development, 2011
Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia.
Flück CE et al.
Plos One, 2011
Polycystic ovaries and adrenal insufficiency in a young pubescent female with lipoid congenital adrenal hyperplasia due to splice mutation of the StAR gene: a case report and review of the literature.
Jehaimi CT et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2010
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
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
Gonadal function, first cases of pregnancy, and child delivery in a woman with lipoid congenital adrenal hyperplasia.
Khoury K et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Toward the NMR structure of StAR.
Barbar E et al.
Molecular and Cellular Endocrinology, 2009
Validation of the mechanism of cholesterol binding by StAR using short molecular dynamics simulations.
Barbar E et al.
The Journal of Steroid Biochemistry and Molecular Biology, 2009
Phenotypic features of 46, XX females with StAR protein mutations.
Bhangoo A et al.
Pediatric Endocrinology Reviews : Per, 2007
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia.
Baker BY et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
Modeling the structure of the StART domains of MLN64 and StAR proteins in complex with cholesterol.
Murcia M et al.
Journal of Lipid Research, 2006
Phenotypic variations in lipoid congenital adrenal hyperplasia.
Bhangoo A et al.
Pediatric Endocrinology Reviews : Per, 2006
Phenotypic features associated with mutations in steroidogenic acute regulatory protein.
Bhangoo A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Family of two patients with congenital lipoid adrenal hyperplasia due to StAR mutation.
Khoury K et al.
Endocrine Research, 2004
Near-miss apparent SIDS from adrenal crisis.
Gassner HL et al.
The Journal of Pediatrics, 2004
Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein.
Stocco DM
Molecular and Cellular Endocrinology, 2002
Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency.
Tajima T et al.
The Journal of Clinical Endocrinology and Metabolism, 2001
Evidence that StAR and MLN64 act on the outer mitochondrial membrane as molten globules.
Bose HS et al.
Endocrine Research, 2000
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
Structure and lipid transport mechanism of a StAR-related domain.
Tsujishita Y et al.
Nature Structural Biology, 2000
Incorrect folding of steroidogenic acute regulatory protein (StAR) in congenital lipoid adrenal hyperplasia.
Bose HS et al.
Biochemistry, 1998
MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis.
Watari H et al.
Proceedings of the National Academy of Sciences of the United States of America, 1997
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.
Bose HS et al.
The New England Journal of Medicine, 1996