Associated Papers
[Non-classic lipoid adrenal hyperplasia: clinical cases report].
Sichinava IG et al.
Problemy Endokrinologii, 2026
STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.
Koganti PP et al.
Biorxiv : the Preprint Server for Biology, 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
Comprehensive analysis of recessive carrier status using exome and genome sequencing data in 1543 Southern Chinese.
Chau JFT et al.
Npj Genomic Medicine, 2022
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
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort.
Guran T et al.
The Journal of Clinical Endocrinology and Metabolism, 2016
Long-term clinical data and molecular defects in the STAR gene in five Greek patients.
Sertedaki A et al.
European Journal of Endocrinology, 2013
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
Phenotypic features of 46, XX females with StAR protein mutations.
Bhangoo A et al.
Pediatric Endocrinology Reviews : Per, 2007
[Lipoid adrenal hyperplasia caused by earlier unknown 21STAR gene mutations].
Tyulpakov AN et al.
Problemy Endokrinologii, 2006
Phenotypic features associated with mutations in steroidogenic acute regulatory protein.
Bhangoo A et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
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
Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia.
Korsch E et al.
The Journal of Clinical Endocrinology and Metabolism, 1999