A 46,XX Ovotesticular Disorder of Sex Development Likely Caused by a Steroidogenic Factor-1 (NR5A1) Variant (Q29147377)

GOA release 2020-03-11

sex-determination system

1 reference

GOA release 2020-03-11

8

Joel N. Hirschhorn

1 reference

4 April 2017

6

David A. Diamond

1 reference

4 April 2017

Jonathan M. Swartz

1

1 reference

4 April 2017

Ryan Ciarlo

2

1 reference

4 April 2017

Michael H. Guo

3

1 reference

4 April 2017

Aser Abrha

4

1 reference

4 April 2017

Benjamin Weaver

5

1 reference

4 April 2017

Yee-Ming Chan

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development

7

1 reference

4 April 2017

language of work or name

1 reference

18 November 2016

1 reference

4 April 2017

1 reference

4 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development

25 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease

25 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

A framework for variation discovery and genotyping using next-generation DNA sequencing data

25 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

25 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

A method and server for predicting damaging missense mutations

25 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

Fast and accurate short read alignment with Burrows-Wheeler transform

25 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

Rare Causes of Primary Adrenal Insufficiency: Genetic and Clinical Characterization of a Large Nationwide Cohort

25 May 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

Exome sequencing for the diagnosis of 46,XY disorders of sex development.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

Heterozygous missense mutations in steroidogenic factor 1 (SF1/Ad4BP, NR5A1) are associated with 46,XY disorders of sex development with normal adrenal function.

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

A naturally occurring steroidogenic factor-1 mutation exhibits differential binding and activation of target genes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

A Shared Promoter Element Regulates the Expression of Three Steridogenic Enzymes

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

A common trans-acting factor, Ad4-binding protein, to the promoters of steroidogenic P-450s

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569

Ten novel mutations in the NR5A1 gene cause disordered sex development in 46,XY and ovarian insufficiency in 46,XX individuals

3 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1159%2F000452888

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1159%2F000452888

Three new SF-1 (NR5A1) gene mutations in two unrelated families with multiple affected members: within-family variability in 46,XY subjects and low ovarian reserve in fertile 46,XX subjects.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1159%2F000452888

Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner.

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5388569