Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein (Q34666999)

3 August 2017

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title

Clinical disorders associated with abnormal cholesterol transport: mutations in the steroidogenic acute regulatory protein (English)

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3 August 2017

Douglas M Stocco

1

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3 August 2017

1 May 2002

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Molecular and Cellular Endocrinology

3 August 2017

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3 August 2017

191

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3 August 2017

1

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3 August 2017

19-25

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The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

3 August 2017

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

The acute regulation of mineralocorticoid biosynthesis: scenarios for the StAR system.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Mitochondrial regulation of mineralocorticoid biosynthesis by calcium and the StAR protein

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Steroidogenic acute regulatory protein (StAR) and the intramitochondrial translocation of cholesterol

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Evidence for deficient 20 -cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Acute action of luteinizing hormone on mouse Leydig cells: Accumulation of mitochondrial phosphoproteins and stimulation of testosterone synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Studies on the role of protein synthesis in the regulation of corticosterone production by adrenocorticotropic hormone in vivo

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Puromycin analogs: action of adrenocorticotropic hormone and the role of glycogen

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Stoichiometry of mitochondrial cytochromes P-450, adrenodoxin and adrenodoxin reductase in adrenal cortex and corpus luteum. Implications for membrane organization and gene regulation

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Developmental roles of the steroidogenic acute regulatory protein (StAR) as revealed by StAR knockout mice.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Congenital adrenal hyperplasia due to deficient cholesterol side-chain cleavage activity (20, 22-desmolase) in a patient treated for 18 years.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Mitochondrial specificity of the early steps in steroidogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Molecular pathology and mechanism of action of the steroidogenic acute regulatory protein, StAR.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Gonadal Development and Growth in 46, XX and 46, XY Individuals with P450<sub>scc</sub> Deficiency (Congenital Lipoid Adrenal Hyperplasia)

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Spontaneous feminization in a female patient with congenital adrenal lipoid hyperplasia due to a homozygous Q258X mutation in the steroidogenic acute regulatory protein gene

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

A novel splicing junction mutation in the gene for the steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Mechanisms and consequences of cellular cholesterol exchange and transfer.

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Acute cAMP stimulation in Leydig cells: rapid accumulation of a protein similar to that detected in adrenal cortex and corpus luteum

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Acute stimulation of corpus luteum cells by gonadotrophin or adenosine 3',5'-monophosphate causes accumulation of a phosphoprotein concurrent with acceleration of steroid synthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Regulation of intramitochondrial cholesterol transfer to side-chain cleavage cytochrome P-450 in rat adrenal gland

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Membrane cholesterol dynamics: cholesterol domains and kinetic pools

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

The Cholesterol Side-Chain Cleavage System of Bovine Adrenal Cortex

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Induction of mitochondrial proteins in MA-10 Leydig tumour cells with human choriogonadotropin

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Evidence for the functional coupling of cyclic AMP in MA-10 mouse Leydig tumour cells

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Presence of Identical Mitochondrial Proteins in Unstimulated Constitutive Steroid-Producing R2C Rat Leydig Tumor and Stimulated Nonconstitutive Steroid-Producing MA-10 Mouse Leydig Tumor Cells*

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Further evidence that the mitochondrial proteins induced by hormone stimulation in MA-10 mouse Leydig tumor cells are involved in the acute regulation of steroidogenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

A StAR search: implications in controlling steroidgenesis

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

StAR protein and the regulation of steroid hormone biosynthesis

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Human steroidogenic acute regulatory protein: functional activity in COS-1 cells, tissue-specific expression, and mapping of the structural gene to 8p11.2 and a pseudogene to chromosome 13

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

Heterozygous Mutation in the Cholesterol Side Chain Cleavage Enzyme (P450scc) Gene in a Patient with 46,XY Sex Reversal and Adrenal Insufficiency

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

T-->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia

1 reference

https://api.crossref.org/works/10.1016%2FS0303-7207%2802%2900048-5

7 January 2021

10.1016/S0303-7207(02)00048-5

Identifiers

DOI

1 reference

3 August 2017

1 reference

PubMed ID

12044915