Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1 (Q34169445)

31 July 2017

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

1 reference

31 July 2017

1 reference

14

Jacob Seeler

1 reference

31 July 2017

Bruno Ferraz-de-Souza

Bruno Ferraz-de-Souza

2

0 references

Neil J. Sebire

Neil J Sebire

5

0 references

Kenneth McElreavey

16

Ken McElreavey

1 reference

31 July 2017

1

Anu Bashamboo

1 reference

31 July 2017

12

Hassan Rouba

1 reference

31 July 2017

3

Diana Lourenço

1 reference

31 July 2017

9

Jean-Pierre Siffroi

1 reference

31 July 2017

Joelle Bignon-Topalovic

7

Joelle Bignon-Topalovic

1 reference

31 July 2017

Lin Lin

4

1 reference

31 July 2017

Debbie Montjean

6

1 reference

31 July 2017

Jacqueline Mandelbaum

8

1 reference

31 July 2017

Sophie Christin-Maitre

10

1 reference

31 July 2017

Uppala Radhakrishna

11

1 reference

31 July 2017

Celia Ravel

13

1 reference

31 July 2017

John C Achermann

15

1 reference

31 July 2017

language of work or name

English

0 references

publication date

1 October 2010

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

87

1 reference

31 July 2017

505-512

1 reference

31 July 2017

4

1 reference

The genetic causes of male factor infertility: a review

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Clinical Review#: State of the art for genetic testing of infertile men.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Molecular aspects of steroidogenic factor 1 (SF-1).

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Mutations in NR5A1 associated with ovarian insufficiency

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Testicular dysgenesis syndrome: foetal origin of adult reproductive problems

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Structure of SF-1 Bound by Different Phospholipids: Evidence for Regulatory Ligands

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Steroidogenic factor-1 (SF-1, Ad4BP, NR5A1) and disorders of testis development

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

The herbicide atrazine activates endocrine gene networks via non-steroidal NR5A nuclear receptors in fish and mammalian cells

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Coordinated European investigations of semen quality: results from studies of Scandinavian young men is a matter of concern

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Register data on Assisted Reproductive Technology (ART) in Europe including a detailed description of ART in Denmark

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Is human fecundity declining?

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

The DEAD-box protein DP103 (Ddx20 or Gemin-3) represses orphan nuclear receptor activity via SUMO modification

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Structural analyses reveal phosphatidyl inositols as ligands for the NR5 orphan receptors SF-1 and LRH-1.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Cell-specific knockout of steroidogenic factor 1 reveals its essential roles in gonadal function

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

The SUMO E3 ligase RanBP2 promotes modification of the HDAC4 deacetylase

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Steroidogenic factor 1 (SF1) is essential for pituitary gonadotrope function.

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Phosphorylation of the nuclear receptor SF-1 modulates cofactor recruitment: integration of hormone signaling in reproduction and stress

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Developmental expression of mouse steroidogenic factor-1, an essential regulator of the steroid hydroxylases

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Functional difference between Ad4BP and ELP, and their distributions in steroidogenic tissues

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

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

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Sex determination involves synergistic action of SRY and SF1 on a specific Sox9 enhancer

28 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Translin coactivates steroidogenic factor-1-stimulated transcription

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Role of transcription factors Ad4bp/SF-1 and DAX-1 in steroidogenesis and spermatogenesis in human testicular development and idiopathic azoospermia.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Impaired Leydig cell function in infertile men: a study of 357 idiopathic infertile men and 318 proven fertile controls

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Familial clustering of impaired spermatogenesis: no evidence for a common genetic inheritance pattern.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Expression of steroidogenic factor 1 and Wilms' tumour 1 during early human gonadal development and sex determination.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2948805

Familial oligoasthenoteratozoospermia: evidence of autosomal dominant inheritance with sex-limited expression

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20887963

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Meiotic arrest at first spermatocyte level: a new inherited infertility disorder

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/20887963

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2010.09.009

1 reference

31 July 2017

1 reference

31 July 2017

1 reference