(Q46441350)

22 December 2017

reason for preferred rank

title

Missense mutation serine106—-proline causes 17 alpha-hydroxylase deficiency (English)

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

6 November 2022

Missense mutation serine106----proline causes 17 alpha-hydroxylase deficiency (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714904

congenital adrenal hyperplasia

6 November 2022

main subject

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714904

6 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

6 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

6 November 2022

author name string

D. Lin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714904

6 November 2022

J. A. Harikrishna

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714904

6 November 2022

C. C. Moore

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714904

6 November 2022

K. L. Jones

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714904

6 November 2022

W. L. Miller

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714904

6 November 2022

language of work or name

English

0 references

publication date

1 August 1991

1 reference

22 December 2017

25 August 1991

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=1714904

full work available at URL

6 November 2022

http://intl.jbc.org/cgi/content/abstract/266/24/15992

online access status

open access

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A1714904

https://api.elsevier.com/content/article/PII:S0021925818985066?httpAccept=text/xml

6 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

https://api.elsevier.com/content/article/PII:S0021925818985066?httpAccept=text/plain

6 November 2022

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Journal of Biological Chemistry

6 November 2022

published in

1 reference

22 December 2017

volume

266

1 reference

22 December 2017

issue

24

1 reference

22 December 2017

page(s)

15992-15998

1 reference

22 December 2017

The P450 superfamily: update on new sequences, gene mapping, and recommended nomenclature

cites work

1

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Microsomal cytochrome P-450 from neonatal pig testis: two enzymatic activities (17 alpha-hydroxylase and c17,20-lyase) associated with one protein

6 November 2022

4

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Expression of bovine 17 alpha-hydroxylase cytochrome P-450 cDNA in nonsteroidogenic (COS 1) cells

6 November 2022

6

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Expression of bovine cytochrome P450c17 cDNA in Saccharomyces cerevisiae.

6 November 2022

7

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

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

6 November 2022

8

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Hormonal regulation of P450scc (20,22-desmolase) and P450c17 (17 alpha-hydroxylase/17,20-lyase) in cultured human granulosa cells

6 November 2022

9

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Coordinate tropic hormone regulation of mRNAs for insulin-like growth factor II and the cholesterol side-chain-cleavage enzyme, P450scc [corrected], in human steroidogenic tissues

6 November 2022

10

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Tissue-specific, cyclic adenosine 3',5'-monophosphate-induced, and phorbol ester-repressed transcription from the human P450c17 promoter in mouse cells

6 November 2022

12

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

cAMP regulates P450scc gene expression by a cycloheximide-insensitive mechanism in cultured mouse Leydig MA-10 cells

6 November 2022

14

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Hypogonadism and mineralocorticoid excess. The 17-hydroxylase deficiency syndrome

6 November 2022

17

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Developmental expression of genes for the stereoidogenic enzymes P450scc (20,22-desmolase), P450c17 (17 alpha-hydroxylase/17,20-lyase), and P450c21 (21-hydroxylase) in the human fetus.

6 November 2022

18

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Abnormal sex differentiation

6 November 2022

19

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Assignment of the gene for adrenal P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase) to human chromosome 10.

6 November 2022

20

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

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

6 November 2022

21

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Cloning and sequence of the human gene for P450c17 (steroid 17 alpha-hydroxylase/17,20 lyase): similarity with the gene for P450c21

6 November 2022

22

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

17 alpha-hydroxylase/17,20-lyase deficiency: from clinical investigation to molecular definition

6 November 2022

23

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Gene conversions and rearrangements cause discordance between inheritance of forms of 21-hydroxylase deficiency and HLA types

6 November 2022

24

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Supercoil sequencing: a fast and simple method for sequencing plasmid DNA

6 November 2022

25

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Optimal conditions for directly sequencing double-stranded PCR products with sequenase

6 November 2022

26

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Replacement of insulin receptor tyrosine residues 1162 and 1163 compromises insulin-stimulated kinase activity and uptake of 2-deoxyglucose

6 November 2022

27

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Cell-specific expression of the rat insulin gene: evidence for role of two distinct 5' flanking elements

6 November 2022

28

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

An efficient chloramphenicol-resistance marker for Saccharomyces cerevisiae and Escherichia coli.

6 November 2022

29

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Journal of Biological Chemistry

6 November 2022

31

266

6215

Ozols

1981

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Homologous sequences in steroidogenic enzymes, steroid receptors and a steroid binding protein suggest a consensus steroid-binding sequence

6 November 2022

32

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Alteration of mouse cytochrome P450coh substrate specificity by mutation of a single amino-acid residue

6 November 2022

33

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

A molecular model for the enzyme cytochrome P450(17 alpha), a major target for the chemotherapy of prostatic cancer.

6 November 2022

35

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Rat P450(17 alpha) from testis: characterization of a full-length cDNA encoding a unique steroid hydroxylase capable of catalyzing both delta 4- and delta 5-steroid-17,20-lyase reactions

6 November 2022

36

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Human Proopiomelanocortin-(79–96), a Proposed Androgen Stimulatory Hormone, Does not Affect Steroidogenesis in Cultured Human Fetal Adrenal Cells*

6 November 2022

37

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

Human Proopiomelanocortin-(79–96), a Proposed Cortical Androgen- Stimulating Hormone, Does not Affect Steroidogenesis in Cultured Human Adult Adrenal Cells*

6 November 2022

38

1 reference

https://api.crossref.org/works/10.1016/S0021-9258(18)98506-6

6 November 2022

Identifiers

1 reference

22 December 2017