Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc. (Q36589412)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23337730%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

title

Varied clinical presentations of seven patients with mutations in CYP11A1 encoding the cholesterol side-chain cleavage enzyme, P450scc (English)

1 reference

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22 February 2020

8

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22 February 2020

Val C Sheffield

9

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22 February 2020

Eli Hershkovitz

11

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22 February 2020

author name string

Meng Kian Tee

1

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22 February 2020

Michal Abramsohn

2

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22 February 2020

Neta Loewenthal

3

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22 February 2020

Mark Harris

4

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22 February 2020

Sudeep Siwach

5

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22 February 2020

Ana Kaplinsky

6

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22 February 2020

Barak Markus

7

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22 February 2020

Ruti Parvari

10

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22 February 2020

Walter L Miller

12

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22 February 2020

language of work or name

English

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publication date

21 January 2013

1 reference

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The Journal of Clinical Endocrinology and Metabolism

22 February 2020

published in

1 reference

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22 February 2020

volume

98

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22 February 2020

page(s)

713-720

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22 February 2020

issue

2

1 reference

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Delayed diagnosis of adrenal insufficiency in a patient with severe penoscrotal hypospadias due to two novel P450 side-change cleavage enzyme (CYP11A1) mutations (p.R360W; p.R405X)

22 February 2020

cites work

1 reference

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Structural basis for pregnenolone biosynthesis by the mitochondrial monooxygenase system

9 September 2017

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Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia

9 September 2017

1 reference

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Structural Basis for Three-step Sequential Catalysis by the Cholesterol Side Chain Cleavage Enzyme CYP11A1

9 September 2017

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The molecular biology, biochemistry, and physiology of human steroidogenesis and its disorders

9 September 2017

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Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

9 September 2017

1 reference

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Severe combined adrenal and gonadal deficiency caused by novel mutations in the cholesterol side chain cleavage enzyme, P450scc

9 September 2017

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StAR search--what we know about how the steroidogenic acute regulatory protein mediates mitochondrial cholesterol import

9 September 2017

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Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia

9 September 2017

1 reference

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Homozygous mutation of P450 side-chain cleavage enzyme gene (CYP11A1) in 46, XY patient with adrenal insufficiency, complete sex reversal, and agenesis of corpus callosum

9 September 2017

1 reference

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Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency

9 September 2017

1 reference

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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

9 September 2017

1 reference

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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

9 September 2017

1 reference

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Role of steroidogenic acute regulatory protein in adrenal and gonadal steroidogenesis

9 September 2017

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Human cholesterol side-chain cleavage enzyme, P450scc: cDNA cloning, assignment of the gene to chromosome 15, and expression in the placenta

9 September 2017

1 reference

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Indispensability of the human corpus luteum in the maintenance of early pregnancy. Luteectomy evidence

9 September 2017

1 reference

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Compound heterozygous mutations in the cholesterol side-chain cleavage enzyme gene (CYP11A) cause congenital adrenal insufficiency in humans

30 September 2017

1 reference

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The pathophysiology and genetics of congenital lipoid adrenal hyperplasia.

28 June 2018

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Construction and function of fusion enzymes of the human cytochrome P450scc system

28 June 2018

1 reference

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A novel homozygous mutation in CYP11A1 gene is associated with late-onset adrenal insufficiency and hypospadias in a 46,XY patient

28 June 2018

1 reference

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Homozygous disruption of P450 side-chain cleavage (CYP11A1) is associated with prematurity, complete 46,XY sex reversal, and severe adrenal failure

20 September 2018

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Steroid deficiency syndromes in mice with targeted disruption of Cyp11a1.

20 September 2018

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Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia

20 September 2018

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Regulation of proteins in the cholesterol side-chain cleavage system in JEG-3 and Y-1 cells

20 September 2018

1 reference

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Inherited congenital adrenal hyperplasia in the rabbit is caused by a deletion in the gene encoding cytochrome P450 cholesterol side-chain cleavage enzyme

20 September 2018

1 reference

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A Novel Entity of Clinically Isolated Adrenal Insufficiency Caused by a Partially Inactivating Mutation of the Gene Encoding for P450 Side Chain Cleavage Enzyme (CYP11A1)

20 September 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23337730

inferred from PubMed ID database lookup

12 December 2020

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Effects of luteectomy and progesterone replacement therapy in early pregnant patients

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23337730

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12 December 2020

based on heuristic

Identifiers

DOI

10.1210/JC.2012-2828

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23337730%20AND%20SRC:MED&resulttype=core&format=json

release_l7n5daor5nhnrjglexxr7y75lu

22 February 2020

Fatcat ID

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mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23337730%20AND%20SRC:MED&resulttype=core&format=json

22 February 2020

1 reference