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Article

Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein.

The Journal of clinical endocrinology and metabolism - 1 Feb 2004

González Alexis A, Reyes M Loreto, Carvajal Cristian A, Tobar Jaime A, Mosso Lorena M, Baquedano Paulina, Solar Antonieta, Venegas Alejandro, Fardella Carlos E

Abstract excerpt

Steroidogenic acute regulatory protein (StAR) plays a crucial role in the transport of cholesterol from the cytoplasm to the inner mitochondrial membrane, facilitating its conversion to pregnenolone by cytochrome P450scc. Its essential role in steroidogenesis was demonstrated after observing that StAR gene mutations gave rise to a potentially lethal disease named congenital lipoid adrenal hyperplasia, in which...

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Adrenal Hyperplasia, Congenital
Chlorocebus aethiops
COS Cells
DNA Restriction Enzymes
Phosphoproteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Steroidogenic Acute Regulatory Protein

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PMID: 14764819
DOI: 10.1210/jc.2003-030345

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Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein.PMID 14764819Read ↗

STAR splicing mutations cause the severe phenotype of lipoid congenital adrenal hyperplasia: insights from a novel splice mutation and review of reported cases.Semantic proximity Read ↗

Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

T→A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasiaSemantic proximity Read ↗

Congenital lipoid adrenal hyperplasia (a rare form of adrenal insufficiency and ambiguous genitalia) caused by a novel mutation of the steroidogenic acute regulatory protein gene.Semantic proximity Read ↗

A Novel Mutation L260P of the Steroidogenic Acute Regulatory Protein Gene in Three Unrelated Patients of Swiss Ancestry with Congenital Lipoid Adrenal HyperplasiaSemantic proximity Read ↗

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Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein.Semantic proximity Read ↗

Clinical, genetic, and functional characterization of four patients carrying partial loss-of-function mutations in the steroidogenic acute regulatory protein (StAR).Semantic proximity Read ↗

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The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.Semantic proximity Read ↗

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