(Q37152974)

18 August 2017

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome (English)

1 reference

18 August 2017

1 reference

Valérie Cormier-Daire

11

Valérie Cormier-Daire

0 references

Capucine Picard

10

Capucine Picard

0 references

Olivier Alibeu

Olivier Alibeu

7

0 references

Maya Chrabieh

Maya Chrabieh

6

0 references

Carine Le Goff

Carine Le Goff

1

0 references

Wilfried le Goff

Wilfried Le Goff

3

0 references

Arnold Munnich

9

Arnold Munnich

1 reference

18 August 2017

Curtis Rogers

2

1 reference

18 August 2017

Graziella Pinto

4

1 reference

18 August 2017

Damien Bonnet

5

1 reference

18 August 2017

Patrick Nistchke

8

1 reference

18 August 2017

language of work or name

English

0 references

publication date

14 July 2016

1 reference

American Journal of Human Genetics

18 August 2017

1 reference

18 August 2017

99

1 reference

18 August 2017

2

1 reference

18 August 2017

407-413

1 reference

TAK1 regulates SOX9 expression in chondrocytes and is essential for postnatal development of the growth plate and articular cartilages.

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Essential role of TAK1 in regulating mantle cell lymphoma survival.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

The p38 MAPK pathway is essential for skeletogenesis and bone homeostasis in mice

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Autoactivation of transforming growth factor beta-activated kinase 1 is a sequential bimolecular process

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

TAK1 regulates cartilage and joint development via the MAPK and BMP signaling pathways.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Disruption of TAK1 in hepatocytes causes hepatic injury, inflammation, fibrosis, and carcinogenesis

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Mutations of multiple genes cause deregulation of NF-kappaB in diffuse large B-cell lymphoma.

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

TGF-beta activated kinase-1: new insights into the diverse roles of TAK1 in development and immunity

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Identification of a member of the MAPKKK family as a potential mediator of TGF-beta signal transduction

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

A resorcylic acid lactone, 5Z-7-oxozeaenol, prevents inflammation by inhibiting the catalytic activity of TAK1 MAPK kinase kinase

6 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Smad6 inhibits non-canonical TGF-β1 signalling by recruiting the deubiquitinase A20 to TRAF6.

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Essential function for the kinase TAK1 in innate and adaptive immune responses.

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Postnatal growth retardation, facial dysmorphism, spondylocarpal synostosis, cardiac defect, and inner ear malformation (cardiospondylocarpofacial syndrome?)--a distinct syndrome?

3 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974068

Deletion of a small consensus region at 6q15, including the MAP3K7 gene, is significantly associated with high-grade prostate cancers

20 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27426734

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Angiotensin II increases CTGF expression via MAPKs/TGF-β1/TRAF6 pathway in atrial fibroblasts

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/27426734

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2016.06.005

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

27426734

1 reference