Associated Papers
STAR/STARD1: A mitochondrial intermembrane space cholesterol shuttle degraded through mitophagy.
Koganti PP et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
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
Pathological variants in genes associated with disorders of sex development and central causes of hypogonadism in a whole-genome reference panel of 8380 Japanese individuals.
Shiga N et al.
Human Genome Variation, 2022
36171209 (PubMed )
Supplement: 41439_2022_213_MOESM2_ESM.xlsx › Supplementary_Table_2
Clinical characteristics of a male child with non-classic lipoid congenital adrenal hyperplasia and literature review.
Lu W et al.
Frontiers in Endocrinology, 2022
Pubertal and Adult Testicular Functions in Nonclassic Lipoid Congenital Adrenal Hyperplasia: A Case Series and Review.
Ishii T et al.
Journal of the Endocrine Society, 2019
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
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
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
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