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 (Q37365129)

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scientific article published on March 1997

Language	Label	Description	Also known as
English	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	scientific article published on March 1997

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

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 (English)

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

congenital disorder

0 references

steroid biosynthetic process

1 reference

based on heuristic

inferred from title

author name string

K Fujieda

1

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

T Tajima

2

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

J Nakae

3

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

S Sageshima

4

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

K Tachibana

5

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

S Suwa

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

T Sugawara

7

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

J F Strauss

8

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

language of work or name

0 references

publication date

1 March 1997

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

Journal of Clinical Investigation

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

99

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

6

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

1265-1271

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

6 September 2017

Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

6 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

6 September 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

6 September 2017

Molecular biology of steroid hormone synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

14 September 2017

Regulation of the acute production of steroids in steroidogenic cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

28 September 2017

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://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

28 September 2017

No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

26 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

26 June 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

26 June 2018

Structure of the human steroidogenic acute regulatory protein (StAR) gene: StAR stimulates mitochondrial cholesterol 27-hydroxylase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=507941

2 September 2018

Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease)

1 reference

https://pubmed.ncbi.nlm.nih.gov/9077535

12 December 2020

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inferred from PubMed ID database lookup

Identifiers

10.1172/JCI119284

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

19 August 2017

ResearchGate publication ID

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