(Q22009986)

English

A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans

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scholarly article

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A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans (English)

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Nuclear receptor subfamily 5 group A member 1

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GOA release 2020-03-11

male sex determination

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GOA release 2020-03-11

author name string

J C Achermann

1

author given names

John C.

author last names

Achermann

1 reference

Dimensions Publication ID

14 September 2022

M Ito

2

author given names

Masafumi

author last names

Ito

1 reference

Dimensions Publication ID

14 September 2022

P C Hindmarsh

4

author given names

Peter C.

author last names

Hindmarsh

1 reference

Dimensions Publication ID

14 September 2022

J L Jameson

5

author given names

J. Larry

author last names

Jameson

1 reference

Dimensions Publication ID

14 September 2022

Mika Ito

author given names

Mika

author last names

Ito

3

1 reference

Dimensions Publication ID

14 September 2022

language of work or name

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publication date

June 1999

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Nature Genetics

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22

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125-6

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2

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Steroidogenic Factor 1: A Key Determinant of Endocrine Development and Function

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

A cell-specific nuclear receptor is essential for adrenal and gonadal development and sexual differentiation.

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Cloning and sequence analysis of the human gene encoding steroidogenic factor 1.

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Three amino acids of the oestrogen receptor are essential to its ability to distinguish an oestrogen from a glucocorticoid-responsive element

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Donor splice-site mutations in WT1 are responsible for Frasier syndrome

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Dax1 antagonizes Sry action in mammalian sex determination

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

WT-1 is required for early kidney development

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex-specific gene expression

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins.

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Steroidogenic factor-1 binding and transcriptional activity of the cholesterol side-chain cleavage promoter in rat granulosa cells

1 reference

https://api.crossref.org/works/10.1038%2F9629

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

Dimensions Publication ID

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

ResearchGate publication ID

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Springer Nature article ID

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