Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development. (Q47658975)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

title

Functional characterization of novel NR5A1 variants reveals multiple complex roles in disorders of sex development (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Gorjana Robevska

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Jocelyn A van den Bergen

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Thomas Ohnesorg

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Stefanie Eggers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Chloe Hanna

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Remko Hersmus

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Elizabeth M Thompson

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Anne Baxendale

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Charles F Verge

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Antony R Lafferty

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Nanis S Marzuki

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Ardy Santosa

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Nurin A Listyasari

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Stefan Riedl

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Garry Warne

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

Sultana Faradz

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

publication date

2 November 2017

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

volume

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

issue

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

page(s)

124-139

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

Genetic and epigenetic effects in sex determination

7 April 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Disorders of sex development: insights from targeted gene sequencing of a large international patient cohort

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Familial forms of disorders of sex development may be common if infertility is considered a comorbidity

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

The biology of germ cell tumors in disorders of sex development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Germ cell neoplasia in situ (GCNIS): evolution of the current nomenclature for testicular pre-invasive germ cell malignancy

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Cpipe: a shared variant detection pipeline designed for diagnostic settings

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Mutational screening of NR5A1 gene encoding steroidogenic factor 1 in cryptorchidism and male factor infertility and functional analysis of seven undescribed mutations

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Fertility preservation in a family with a novel NR5A1 mutation

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46,XY neonates and infants with atypical sexual development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Managing the risk of germ cell tumourigenesis in disorders of sex development patients.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Whole exome sequencing combined with linkage analysis identifies a novel 3 bp deletion in NR5A1

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

46,XY disorder of sexual development resulting from a novel monoallelic mutation (p.Ser31Phe) in the steroid 5α-reductase type-2 (SRD5A2) gene

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

The novel p.Cys65Tyr mutation in NR5A1 gene in three 46,XY siblings with normal testosterone levels and their mother with primary ovarian insufficiency

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Comprehensive sequence analysis of the NR5A1 gene encoding steroidogenic factor 1 in a large group of infertile males

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Steroidogenic factor-1 and human disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

A novel NR5A1 variant in an infant with elevated testosterone from an Australasian cohort of 46,XY patients with disorders of sex development

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Mutation analysis of NR5A1 encoding steroidogenic factor 1 in 77 patients with 46, XY disorders of sex development (DSD) including hypospadias

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

SpliceAid 2: a database of human splicing factors expression data and RNA target motifs

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Steroidogenic factor-1 (SF-1, NR5A1) and human disease

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Protein structure analysis of mutations causing inheritable diseases. An e-Science approach with life scientist friendly interfaces

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

I-TASSER: a unified platform for automated protein structure and function prediction

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

CellProfiler Analyst: data exploration and analysis software for complex image-based screens

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

I-TASSER server for protein 3D structure prediction

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Mutational analysis of steroidogenic factor 1 (NR5a1) in 24 boys with bilateral anorchia: a French collaborative study

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Histone deacetylase inhibitors reduce steroidogenesis through SCF-mediated ubiquitination and degradation of steroidogenic factor 1 (NR5A1).

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Five novel mutations in steroidogenic factor 1 (SF1, NR5A1) in 46,XY patients with severe underandrogenization but without adrenal insufficiency

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Candidate genes for congenital diaphragmatic hernia from animal models: sequencing of FOG2 and PDGFRalpha reveals rare variants in diaphragmatic hernia patients

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Heterozygous mutation of steroidogenic factor-1 in 46,XY subjects may mimic partial androgen insensitivity syndrome

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Micropenis and the 5alpha-reductase-2 (SRD5A2) gene: mutation and V89L polymorphism analysis in 81 Japanese patients

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

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

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Steroidogenic factor-1 regulates transcription of the human anti-müllerian hormone receptor.

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Nuclear receptor steroidogenic factor 1 regulates the müllerian inhibiting substance gene: a link to the sex determination cascade

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

22 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

NR5A1 Loss-of-Function Mutations Lead to 46,XY Partial Gonadal Dysgenesis Phenotype: Report of Three Novel Mutations.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Pubertal androgenization and gonadal histology in two 46,XY adolescents with NR5A1 mutations and predominantly female phenotype at birth

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Partial deletion of the NR5A1 (SF1) gene detected by synthetic probe MLPA in a patient with XY gonadal disorder of sex development.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Predominant Sertoli cell deficiency in a 46,XY disorders of sex development patient with a new NR5A1/SF-1 mutation transmitted by his unaffected father.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Association of cryptorchidism with Gly146Ala polymorphism in the gene for steroidogenic factor-1.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Sequence-specific deoxyribonucleic acid (DNA) recognition by steroidogenic factor 1: a helix at the carboxy terminus of the DNA binding domain is necessary for complex stability

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Association of severe micropenis with Gly146Ala polymorphism in the gene for steroidogenic factor-1.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Acetylation of steroidogenic factor 1 protein regulates its transcriptional activity and recruits the coactivator GCN5.

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

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

14 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5765430

Targeted mutagenesis of the endogenous mouse Mis gene promoter: in vivo definition of genetic pathways of vertebrate sexual development

14 August 2018

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.23354

inferred from DOI database lookup

7 January 2021

based on heuristic

Preserved fertility in a patient with a 46,XY disorder of sex development due to a new heterozygous mutation in the NR5A1/SF-1 gene: evidence of 46,XY and 46,XX gonadal dysgenesis phenotype variability in multiple members of an affected kindred

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.23354

inferred from DOI database lookup

7 January 2021

based on heuristic

Longitudinal hormonal evaluation in a patient with disorder of sexual development, 46,XY karyotype and one NR5A1 mutation

1 reference

Crossref

https://api.crossref.org/works/10.1002%2FHUMU.23354

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.23354

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json

7 April 2020

PubMed publication ID

29027299

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:29027299%20AND%20SRC:MED&resulttype=core&format=json