Associated Papers
StAR Protein Deficiency in Clinical Practice: A Case Series From Saudi Arabia.
Alabduljabbar A et al.
Case Reports in Endocrinology, 2026
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
STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.
Koganti PP et al.
Biorxiv : the Preprint Server for Biology, 2025
Exome sequencing for assessing the risk of 453 monogenic disorders in offspring: A study of 832 Chinese couples.
Ding X et al.
Clinical and Translational Medicine, 2024
Novel STAR Gene Variant of Congenital Lipoid Adrenal Hyperplasia With Testicular Adrenal Rests.
Harinarayan CV et al.
Jcem Case Reports, 2024
Steroidogenic acute regulatory protein (STAR) deficiency: Our experience and systematic review for phenotype-genotype correlation.
Phadte A et al.
Clinical Endocrinology, 2024
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
Insights into National Laboratory Newborn Screening and Future Prospects.
Mujamammi AH
Medicina (kaunas, Lithuania), 2022
Forty-seven pathogenic variants causing autosomal recessive disorders are shared by Israeli and Saudi Arabian Arabs.
Zlotogora J
Clinical Genetics, 2021
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
Mutational analysis of rare subtypes of congenital adrenal hyperplasia in a highly inbred population.
Alswailem MM et al.
Molecular and Cellular 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
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.
Huang Z et al.
Steroids, 2016
Clinical and molecular review of atypical congenital adrenal hyperplasia.
Sahakitrungruang T
Annals of Pediatric Endocrinology & Metabolism, 2015
Congenital lipoid adrenal hyperplasia.
Kim CJ
Annals of Pediatric Endocrinology & Metabolism, 2014
p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia.
Park HW et al.
Annals of Pediatric Endocrinology & Metabolism, 2013
Map of autosomal recessive genetic disorders in Saudi Arabia: concepts and future directions.
Al-Owain M et al.
American Journal of Medical Genetics. Part A, 2012
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.
Lekarev O et al.
European Journal of Pediatrics, 2012
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
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
Phenotypic features of 46, XX females with StAR protein mutations.
Bhangoo A et al.
Pediatric Endocrinology Reviews : Per, 2007
Cholesterol binding does not predict activity of the steroidogenic acute regulatory protein, StAR.
Baker BY et al.
The Journal of Biological Chemistry, 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
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
[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
Molecular and structural analysis of two novel StAR mutations in patients with lipoid congenital adrenal hyperplasia.
Achermann JC et al.
Molecular Genetics and Metabolism, 2001