(Q34381676)

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Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination

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17 January 2020

Mutations in MAP3K1 cause 46,XY disorders of sex development and implicate a common signal transduction pathway in human testis determination (English)

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17 January 2020

Alexander Pearlman

1

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17 January 2020

7

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17 January 2020

8

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17 January 2020

9

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17 January 2020

Andy Greenfield

20

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17 January 2020

Andrew H Sinclair

21

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17 January 2020

author name string

Johnny Loke

2

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17 January 2020

Cedric Le Caignec

3

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17 January 2020

Stefan White

4

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17 January 2020

Lisa Chin

5

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17 January 2020

Andrew Friedman

6

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17 January 2020

Charles Farmer

10

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17 January 2020

Eric Brooks

11

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17 January 2020

Carole Oddoux

12

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17 January 2020

Bridget Riley

13

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17 January 2020

Shahin Shajahan

14

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17 January 2020

Giovanna Camerino

15

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17 January 2020

Tessa Homfray

16

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17 January 2020

Andrew H Crosby

17

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17 January 2020

Jenny Couper

18

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17 January 2020

Albert David

19

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17 January 2020

Harry Ostrer

22

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17 January 2020

language of work or name

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publication date

1 December 2010

1 reference

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17 January 2020

American Journal of Human Genetics

1 reference

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17 January 2020

87

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17 January 2020

6

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17 January 2020

898-904

1 reference

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17 January 2020

MAP3K1 functionally interacts with Axin1 in the canonical Wnt signalling pathway.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Loss of mitogen-activated protein kinase kinase kinase 4 (MAP3K4) reveals a requirement for MAPK signalling in mouse sex determination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

The transcriptional activity of Sox9 in chondrocytes is regulated by RhoA signaling and actin polymerization

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Mixed signals: development of the testis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Stabilization of beta-catenin in XY gonads causes male-to-female sex-reversal

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Role of mitogen-activated protein kinase kinase kinases in signal integration

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Consensus statement on management of intersex disorders. International Consensus Conference on Intersex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Expression profiling of purified mouse gonadal somatic cells during the critical time window of sex determination reveals novel candidate genes for human sexual dysgenesis syndromes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

RhoA/ROCK signaling regulates Sox9 expression and actin organization during chondrogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

SIFT: Predicting amino acid changes that affect protein function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

MEK kinase 1 interacts with focal adhesion kinase and regulates insulin receptor substrate-1 expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Novel recognition mode between Vav and Grb2 SH3 domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Up-regulation of WNT-4 signaling and dosage-sensitive sex reversal in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Up-regulation of the chondrogenic Sox9 gene by fibroblast growth factors is mediated by the mitogen-activated protein kinase pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Sertoli cells of the mouse testis originate from the coelomic epithelium.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Axin, an inhibitor of the Wnt signalling pathway, interacts with beta-catenin, GSK-3beta and APC and reduces the beta-catenin level

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Familial Syndrome of Streak Gonads and Normal Male Karyotype in Five Phenotypic Females

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Studies on Sex Differentiation in Mammals

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Genetic evidence equating SRY and the testis-determining factor

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

A gene from the human sex-determining region encodes a protein with homology to a conserved DNA-binding motif

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Dominant negative mutations in the Wilms tumour (WT1) gene cause Denys-Drash syndrome--proof that a tumour-suppressor gene plays a crucial role in normal genitourinary development

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Genetically Determined Sex-Reversal in 46,XY Humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

6 July 2018

Regulation of SOX9 mRNA in human articular chondrocytes involving p38 MAPK activation and mRNA stabilization.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

27 October 2018

RhoA binds to the amino terminus of MEKK1 and regulates its kinase activity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2997363

27 October 2018

46,XY gonadal dysgenesis: evidence for autosomal dominant transmission in a large kindred

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mapping a gene for 46,XY gonadal dysgenesis by linkage analysis

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Abnormal sex determination and differentiation in man

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The open-eyelid mutation, lidgap-Gates, is an eight-exon deletion in the mouse Map3k1 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21129722

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1016/J.AJHG.2010.11.003

1 reference

Europe PubMed Central

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17 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21129722%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21129722%20AND%20SRC:MED&resulttype=core&format=json

17 January 2020

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