Associated Papers
STAR/STARD1: a mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.
Koganti PP et al.
Biorxiv : the Preprint Server for Biology, 2025
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
Landscape of pathogenic mutations in premature ovarian insufficiency.
Ke H et al.
Nature Medicine, 2023
Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.
Bakkar AA et al.
Clinical Medicine Insights. Endocrinology and Diabetes, 2023
Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review.
Lu W et al.
Frontiers in Endocrinology, 2022
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 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
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
Kaur J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 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
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
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
Phenotypic features associated with mutations in steroidogenic acute regulatory protein.
Bhangoo A 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
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
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. Mutations in brief no. 117. Online.
Katsumata N et al.
Human Mutation, 1998
Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
Katsumata N et al.
Human Mutation, 1998
Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia.
Katsumata N et al.
Endocrine Journal, 1997
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.
Bose HS et al.
The New England Journal of Medicine, 1996