Associated Papers
[Non-classic lipoid adrenal hyperplasia: clinical cases report].
Sichinava IG et al.
Problemy Endokrinologii, 2026
Clinical and genetic insights into congenital lipoid adrenal hyperplasia: a case series from a tertiary care center in North India.
George A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
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
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
Congenital lipoid adrenal hyperplasia with Graves' disease: A case report.
Wang YJ et al.
World Journal of Clinical Cases, 2022
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
Non-classical lipoid adrenal hyperplasia presenting as hypoglycemic seizures.
Garg M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
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
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
MECHANISMS IN ENDOCRINOLOGY: Rare defects in adrenal steroidogenesis.
Miller WL
European Journal of Endocrinology, 2018
An overview of inborn errors of metabolism manifesting with primary adrenal insufficiency.
Hannah-Shmouni F et al.
Reviews in Endocrine & Metabolic Disorders, 2018
A rare cause of primary adrenal insufficiency due to a homozygous Arg188Cys mutation in the STAR gene.
Burget L et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2018
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
Genetics of Congenital Adrenal Hyperplasia.
Hannah-Shmouni F et al.
Endocrinology and Metabolism Clinics of North America, 2017
Disorders in the initial steps of steroid hormone synthesis.
Miller WL
The Journal of Steroid Biochemistry and Molecular Biology, 2017
De novo disruption of promoter and exon 1 of STAR gene reveals essential role for gonadal development.
Piya A et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2017
Identification of five novel STAR variants in ten Chinese patients with congenital lipoid adrenal hyperplasia.
Huang Z et al.
Steroids, 2016
Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected.
Tsai SL et al.
Hormone Research in Paediatrics, 2016
Lipoid congenital adrenal hyperplasia due to STAR mutations in a Caucasian patient.
Kaur J et al.
Endocrinology, Diabetes & Metabolism Case Reports, 2016
Clinical and molecular review of atypical congenital adrenal hyperplasia.
Sahakitrungruang T
Annals of Pediatric Endocrinology & Metabolism, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
Deficiency of ALADIN impairs redox homeostasis in human adrenal cells and inhibits steroidogenesis.
Prasad R et al.
Endocrinology, 2013
ACTH resistance: genes and mechanisms.
Meimaridou E et al.
Endocrine Development, 2013
Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.
Vasudevan L et al.
Journal of Clinical Research in Pediatric Endocrinology, 2013
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
Neonatal presentation of familial glucocorticoid deficiency resulting from a novel splice mutation in the melanocortin 2 receptor accessory protein.
Jain V et al.
European Journal of Endocrinology, 2011
Early steps in steroidogenesis: intracellular cholesterol trafficking.
Miller WL et al.
Journal of Lipid Research, 2011
Effects of melanocortins on adrenal gland physiology.
Chan LF et al.
European Journal of Pharmacology, 2011
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
The mechanism of specific binding of free cholesterol by the steroidogenic acute regulatory protein: evidence for a role of the C-terminal alpha-helix in the gating of the binding site.
Roostaee A et al.
Bioscience Reports, 2009
Genetics of congenital adrenal hyperplasia.
Krone N et al.
Best Practice & Research. Clinical Endocrinology & 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
[Molecular genetic analysis of congenital lipoid adrenal hyperplasia].
Qiu WJ et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004