A recurrent p.Arg92Trp variant in steroidogenic factor-1 (NR5A1) can act as a molecular switch in human sex development (Q29147443)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

title

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

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

Nuclear receptor subfamily 5 group A member 1

17 March 2020

main subject

1 reference

sequence-specific DNA binding

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

author

Carlos F. Lagos

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

26

Ken McElreavey

2 references

4 April 2017

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17 March 2020

1

Anu Bashamboo

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Joelle Bignon-Topalovic

23

object named as

Joelle Bignon-Topalovic

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

19

Caroline Eozenou

2 references

4 April 2017

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17 March 2020

4

Sandra Rojo

2 references

4 April 2017

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17 March 2020

Marie-Charlotte Dumargne

18

object named as

Marie-Charlotte Dumargne

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

author name string

Eric Vilain

3

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Pierre Calvel

5

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Federica Buonocore

7

2 references

4 April 2017

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17 March 2020

Hayk Barseghyan

8

2 references

4 April 2017

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

Nathan Bingham

9

2 references

4 April 2017

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17 March 2020

Surya Narayan Mulukutla

11

2 references

4 April 2017

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17 March 2020

Mahim Jain

12

2 references

4 April 2017

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17 March 2020

Lindsay Burrage

13

2 references

4 April 2017

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17 March 2020

Shweta Dhar

14

2 references

4 April 2017

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17 March 2020

Ashok Balasubramanyam

15

2 references

4 April 2017

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17 March 2020

Brendan Lee

16

2 references

4 April 2017

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17 March 2020

Members of UDN

17

2 references

4 April 2017

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17 March 2020

Ksh de Silva

21

2 references

4 April 2017

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17 March 2020

Lin Lin

22

2 references

4 April 2017

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17 March 2020

Francis Poulat

24

2 references

4 April 2017

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17 March 2020

Patricia A Donohoue

2

1 reference

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17 March 2020

Sumudu N Seneviratne

6

1 reference

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17 March 2020

Jill A Rosenfeld

10

1 reference

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17 March 2020

Jenifer P Suntharalingham

20

1 reference

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17 March 2020

John C Achermann

27

1 reference

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17 March 2020

publication date

4 July 2016

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

published in

Human Molecular Genetics

2 references

4 April 2017

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17 March 2020

volume

25

2 references

4 April 2017

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17 March 2020

page(s)

3446-3453

1 reference

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17 March 2020

issue

16

2 references

4 April 2017

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

17 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179941

A SOX9 duplication and familial 46,XX developmental testicular disorder

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179941

Identification of SOX3 as an XX male sex reversal gene in mice and humans

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179941

Mutations in NR5A1 associated with ovarian insufficiency

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179941

SERKAL syndrome: an autosomal-recessive disorder caused by a loss-of-function mutation in WNT4

6 April 2017

1 reference

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Consensus statement on management of intersex disorders

6 April 2017

1 reference

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A WNT4 mutation associated with Müllerian-duct regression and virilization in a 46,XX woman

6 April 2017

1 reference

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Dax-1 (dosage-sensitive sex reversal-adrenal hypoplasia congenita critical region on the X chromosome, gene 1) gene transcription is regulated by wnt4 in the female developing gonad

6 April 2017

1 reference

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

6 April 2017

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Comparative protein modelling by satisfaction of spatial restraints

6 April 2017

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

6 April 2017

1 reference

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

6 April 2017

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3 June 2018

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3 June 2018

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3 June 2018

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Inherited human sex reversal due to impaired nucleocytoplasmic trafficking of SRY defines a male transcriptional threshold

3 June 2018

1 reference

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

3 June 2018

1 reference

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3 June 2018

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Elucidation of the transcription network governing mammalian sex determination by exploiting strain-specific susceptibility to sex reversal

3 June 2018

1 reference

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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

3 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=5179941

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

3 June 2018

1 reference

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R-spondin1 is essential in sex determination, skin differentiation and malignancy.

3 June 2018

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Gene expression during sex determination reveals a robust female genetic program at the onset of ovarian development

3 June 2018

1 reference

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

3 June 2018

1 reference

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A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY

3 June 2018

1 reference

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

3 June 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDW186

Delayed Sry and Sox9 expression in developing mouse gonads underlies B6-Y(DOM) sex reversal.

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1093%2FHMG%2FDDW186

Excess DAX1 Leads to XY Ovotesticular Disorder of Sex Development (DSD) in Mice by Inhibiting Steroidogenic Factor-1 (SF1) Activation of the Testis Enhancer ofSRY-box-9(Sox9)

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27378692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Sex-dependent expression of a transcription factor, Ad4BP, regulating steroidogenic P-450 genes in the gonads during prenatal and postnatal rat development

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27378692

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1093/HMG/DDW186

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27378692%20AND%20SRC:MED&resulttype=core&format=json

17 March 2020

2 references