Associated Papers
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
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
Clinical and functional analyses of the novel STAR c.558C>A in a patient with classic lipoid congenital adrenal hyperplasia.
Liu J et al.
Frontiers in Genetics, 2023
Lipoid Congenital Adrenal Hyperplasia With a Novel StAR Gene Mutation.
Bakkar AA et al.
Clinical Medicine Insights. Endocrinology and Diabetes, 2023
Can Digenic, Tri-Allelic Inheritance of Variants in STAR and CYP11A1 Give Rise to Primary Adrenal Insufficiency? A Case Report.
Ali N et al.
Frontiers in Endocrinology, 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
Genetic Analysis of Pediatric Primary Adrenal Insufficiency of Unknown Etiology: 25 Years' Experience in the UK.
Buonocore F et al.
Journal of the Endocrine Society, 2021
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
STAR mutations causing non‑classical lipoid adrenal hyperplasia manifested as familial glucocorticoid deficiency.
Luo Y et al.
Molecular Medicine Reports, 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
Primary adrenal insufficiency: New genetic causes and their long-term consequences.
Buonocore F et al.
Clinical Endocrinology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Pubertal Development and Pregnancy Outcomes in 46,XX Patients With Nonclassic Lipoid Congenital Adrenal Hyperplasia.
Hatabu N et al.
The Journal of Clinical Endocrinology and Metabolism, 2019
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
Congenital lipoid adrenal hyperplasia.
Kim CJ
Annals of Pediatric Endocrinology & Metabolism, 2014
The novel mutation p.Trp147Arg of the steroidogenic acute regulatory protein causes classic lipoid congenital adrenal hyperplasia with adrenal insufficiency and 46,XY disorder of sex development.
Yüksel B et al.
Hormone Research in Paediatrics, 2013
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
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
Metherell LA et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
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