Varaico: Literature-Extracted Genetic Variants

Gene:STAR
Variant:p.E169K
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STAR

NM_000349.3:p.E169K

Associated Papers

Single-Center Experience in Five Patients Diagnosed with Lipoid Congenital Adrenal Hyperplasia Due to Steroidogenic Acute Regulatory Protein (STAR) Gene Variants: A Rare Cause of Adrenal Insufficiency.

Çetin K et al.

Journal of Clinical Research in Pediatric Endocrinology, 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

Congenital lipoid adrenal hyperplasia with Graves' disease: A case report.

Wang YJ et al.

World Journal of Clinical Cases, 2022

Steroid Hormone Profiles and Molecular Diagnostic Tools in Pediatric Patients With non-CAH Primary Adrenal Insufficiency.

Seven Menevse T et al.

The Journal of Clinical Endocrinology and Metabolism, 2022

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

MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.

Fukasawa Y et al.

Molecular & Cellular Proteomics : Mcp, 2015

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A

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

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

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

Phenotypic features of 46, XX females with StAR protein mutations.

Bhangoo A et al.

Pediatric Endocrinology Reviews : Per, 2007

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

Structure and lipid transport mechanism of a StAR-related domain.

Tsujishita Y et al.

Nature Structural Biology, 2000

MLN64 contains a domain with homology to the steroidogenic acute regulatory protein (StAR) that stimulates steroidogenesis.

Watari H et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

Bose HS et al.

The New England Journal of Medicine, 1996

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."