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The genetic and functional basis of isolated 17,20-lyase deficiency
scientific article
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
title
The genetic and functional basis of isolated 17,20-lyase deficiency
(English)
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
main subject
cytochrome P450 family 17 subfamily A member 1
1 reference
stated in
GOA release 2020-03-11
sex differentiation
1 reference
stated in
GOA release 2020-03-11
author
Berenice Bilharinho Mendonca
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
author name string
D H Geller
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
R J Auchus
series ordinal
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
W L Miller
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
language of work or name
English
0 references
publication date
1 October 1997
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
published in
Nature Genetics
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
volume
17
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
issue
2
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
page(s)
201-205
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
cites work
Molecular basis of apparent isolated 17,20-lyase deficiency: compound heterozygous mutations in the C-terminal region (Arg(496)----Cys, Gln(461)----Stop) actually cause combined 17 alpha-hydroxylase/17,20-lyase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
21 January 2018
Point mutation of Arg440 to His in cytochrome P450c17 causes severe 17 alpha-hydroxylase deficiency
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
21 January 2018
17 alpha-Hydroxylase/17,20-lyase defects.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
21 January 2018
Steroid 17 alpha-hydroxylase and 17,20-lyase activities of P450c17: contributions of serine106 and P450 reductase
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
21 January 2018
Modeling and mutagenesis of the active site of human P450c17.
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Crossref
reference URL
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21 January 2018
A three-dimensional model of aromatase cytochrome P450.
1 reference
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Crossref
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https://api.crossref.org/works/10.1038%2FNG1097-201
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21 January 2018
Steroid 17,20-desmolase deficiency: a new cause of male pseudohermaphroditism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Microsomal cytochrome P-450 from neonatal pig testis: two enzymatic activities (17 alpha-hydroxylase and c17,20-lyase) associated with one protein
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Conversion from pure 17,20-desmolase- to combined 17,20-desmolase/17 alpha-hydroxylase deficiency with age
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regional mapping of genes encoding human steroidogenic enzymes: P450scc to 15q23-q24, adrenodoxin to 11q22; adrenodoxin reductase to 17q24-q25; and P450c17 to 10q24-q25
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Localization of the human CYP17 gene (cytochrome P450(17 alpha)) to 10q24.3 by fluorescence in situ hybridization and simultaneous chromosome banding
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cytochrome P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): cloning of human adrenal and testis cDNAs indicates the same gene is expressed in both tissues
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
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7 January 2021
based on heuristic
inferred from DOI database lookup
Crystal structure of hemoprotein domain of P450BM-3, a prototype for microsomal P450's
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structure and function of cytochromes P450: a comparative analysis of three crystal structures.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homologous sequences in steroidogenic enzymes, steroid receptors and a steroid binding protein suggest a consensus steroid-binding sequence
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
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7 January 2021
based on heuristic
inferred from DOI database lookup
Dissociation of Hydroxylase and Lyase Activities by Site-Directed Mutagenesis of the Rat P45017α
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Serine phosphorylation of human P450c17 increases 17,20-lyase activity: implications for adrenarche and the polycystic ovary syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Structural alignments of P450s and extrapolations to the unknown
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Protein folding and association: insights from the interfacial and thermodynamic properties of hydrocarbons
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1038%2FNG1097-201
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1038/NG1097-201
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
Dimensions Publication ID
1003217230
0 references
PubMed publication ID
9326943
1 reference
stated in
Europe PubMed Central
PubMed publication ID
9326943
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:9326943%20AND%20SRC:MED&resulttype=core&format=json
retrieved
6 November 2019
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