Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia (Q28117317)

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18 March 2020

title

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia (English)

2 references

4 January 2017

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Mitogen-activated protein kinase kinase kinase 7

18 March 2020

main subject

1 reference

identical protein binding

GOA release 2020-03-11

1 reference

frontometaphyseal dysplasia

GOA release 2020-03-11

1 reference

inferred from title

author

Aideen M McInerney-Leo

4

1 reference

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18 March 2020

Débora R Bertola

9

1 reference

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18 March 2020

Tae-Joon Cho

12

1 reference

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18 March 2020

Chong Ae Kim

15

1 reference

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Andrew J Sutherland-Smith

18 March 2020

24

1 reference

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Andrew Oliver Mungo Wilkie

18 March 2020

26

1 reference

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18 March 2020

Matthew A. Brown

27

1 reference

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18 March 2020

Emma L. Duncan

28

1 reference

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18 March 2020

David Markie

29

1 reference

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18 March 2020

Stephen Robertson

30

1 reference

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18 March 2020

23

Raoul C M Hennekam

1 reference

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18 March 2020

19

Andrea Superti-Furga

1 reference

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18 March 2020

7

Marie Claude Addor

2 references

4 January 2017

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18 March 2020

author name string

Paul Leo

5

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4 January 2017

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18 March 2020

Tim Morgan

6

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4 January 2017

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18 March 2020

Axel Bohring

10

2 references

4 January 2017

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18 March 2020

Erin Carter

11

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4 January 2017

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18 March 2020

Hans-Christoph Duba

13

2 references

4 January 2017

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18 March 2020

Elaine Fletcher

14

2 references

4 January 2017

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18 March 2020

Deborah Krakow

16

2 references

4 January 2017

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18 March 2020

Eva Morava

17

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4 January 2017

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18 March 2020

Teresa Neuhann

18

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4 January 2017

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18 March 2020

Irma Veenstra-Knol

20

2 references

4 January 2017

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18 March 2020

Emma M Wade

1

1 reference

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18 March 2020

Philip B Daniel

2

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18 March 2020

Zandra A Jenkins

3

1 reference

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18 March 2020

Lesley C Adès

8

1 reference

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18 March 2020

Dagmar Wieczorek

21

1 reference

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18 March 2020

Louise C Wilson

22

1 reference

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18 March 2020

Tim M Strom

25

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18 March 2020

language of work or name

English

0 references

publication date

15 July 2016

1 reference

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American Journal of Human Genetics

18 March 2020

published in

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4 January 2017

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18 March 2020

volume

99

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18 March 2020

page(s)

392-406

1 reference

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18 March 2020

issue

2

2 references

4 January 2017

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HIFalpha targeted for VHL-mediated destruction by proline hydroxylation: implications for O2 sensing

18 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=4974064

TAK1 is a ubiquitin-dependent kinase of MKK and IKK

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974064

Interleukin-1 (IL-1) receptor-associated kinase-dependent IL-1-induced signaling complexes phosphorylate TAK1 and TAB2 at the plasma membrane and activate TAK1 in the cytosol

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4974064

Filamin binds to the cytoplasmic domain of the beta1-integrin. Identification of amino acids responsible for this interaction

20 March 2017

1 reference

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TAB1: an activator of the TAK1 MAPKKK in TGF-beta signal transduction

20 March 2017

1 reference

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Haploinsufficiency of TAB2 causes congenital heart defects in humans

20 March 2017

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Human endothelial actin-binding protein (ABP-280, nonmuscle filamin): a molecular leaf spring

20 March 2017

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TAK1-dependent signaling requires functional interaction with TAB2/TAB3

20 March 2017

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HIF-1alpha binding to VHL is regulated by stimulus-sensitive proline hydroxylation

20 March 2017

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

20 March 2017

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Rate of de novo mutations and the importance of father's age to disease risk

20 March 2017

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20 March 2017

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Filamins regulate cell spreading and initiation of cell migration

20 March 2017

1 reference

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Skeletal dysplasias due to filamin A mutations result from a gain-of-function mechanism distinct from allelic neurological disorders

20 March 2017

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Targeting of HIF-alpha to the von Hippel-Lindau ubiquitylation complex by O2-regulated prolyl hydroxylation

20 March 2017

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TAK1 mitogen-activated protein kinase kinase kinase is activated by autophosphorylation within its activation loop

20 March 2017

1 reference

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

20 March 2017

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TAK1 is critical for IkappaB kinase-mediated activation of the NF-kappaB pathway

20 March 2017

1 reference

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Exchange of N-CoR corepressor and Tip60 coactivator complexes links gene expression by NF-kappaB and beta-amyloid precursor protein

20 March 2017

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Filamins as integrators of cell mechanics and signalling

20 March 2017

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

20 March 2017

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20 March 2017

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

20 March 2017

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Short-rib polydactyly and Jeune syndromes are caused by mutations in WDR60

20 March 2017

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7 April 2017

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Ablation of Tak1 in osteoclast progenitor leads to defects in skeletal growth and bone remodeling in mice

29 September 2017

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Transforming growth factor (TGF)-β-activated kinase 1 (TAK1) activation requires phosphorylation of serine 412 by protein kinase A catalytic subunit α (PKACα) and X-linked protein kinase (PRKX).

29 September 2017

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Mitogen-activated protein kinase pathways in osteoblasts

29 September 2017

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Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA.

29 September 2017

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29 September 2017

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Filamin A mediates interactions between cytoskeletal proteins that control cell adhesion

29 September 2017

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Expansion of the Spectrum of FLNA Mutations Associated with Melnick-Needles Syndrome

29 September 2017

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29 September 2017

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29 September 2017

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Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations

29 September 2017

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Prestressed F-actin networks cross-linked by hinged filamins replicate mechanical properties of cells

29 September 2017

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The many faces of filamin: a versatile molecular scaffold for cell motility and signalling

29 September 2017

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Activation mechanism of c-Jun amino-terminal kinase in the course of neural differentiation of P19 embryonic carcinoma cells

29 September 2017

1 reference

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Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

29 September 2017

1 reference

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TAB2 is essential for prevention of apoptosis in fetal liver but not for interleukin-1 signaling

29 September 2017

1 reference

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NF-kappaB and the innate immune response

29 September 2017

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The role of actin-binding protein 280 in integrin-dependent mechanoprotection

29 September 2017

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Alternative splicing and gene structure of the transforming growth factor beta-activated kinase 1.

29 September 2017

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Osteopetrosis in mice lacking NF-kappaB1 and NF-kappaB2.

2 June 2018

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Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes.

2 June 2018

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A distinct X-linked syndrome involving joint contractures, keloids, large optic cup-to-disc ratio, and renal stones results from a filamin A (FLNA) mutation.

2 June 2018

1 reference

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Novel X-linked syndrome of cardiac valvulopathy, keloid scarring, and reduced joint mobility due to filamin A substitution G1576R.

27 November 2018

1 reference

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Nosology and classification of genetic skeletal disorders: 2015 revision.

27 November 2018

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Frontometaphyseal dysplasia and keloid formation without FLNA mutations.

27 November 2018

1 reference

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Mechanisms of transforming growth factor beta(1)/Smad signalling mediated by mitogen-activated protein kinase pathways in keloid fibroblasts.

27 November 2018

1 reference

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Smad7 binds to the adaptors TAB2 and TAB3 to block recruitment of the kinase TAK1 to the adaptor TRAF2.

27 November 2018

1 reference

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

27 November 2018

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Frontometaphyseal dysplasia: Mutations inFLNA and phenotypic diversity

27 November 2018

1 reference

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Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia

27 November 2018

1 reference

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Structural basis for the interaction of TAK1 kinase with its activating protein TAB1.

27 November 2018

1 reference

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Clinical and genetic heterogeneity in frontometaphyseal dysplasia: severe progressive scoliosis in two families.

27 November 2018

1 reference

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p38 MAPK-mediated signals are required for inducing osteoclast differentiation but not for osteoclast function

27 November 2018

1 reference

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Osteoblasts/stromal cells stimulate osteoclast activation through expression of osteoclast differentiation factor/RANKL but not macrophage colony-stimulating factor: receptor activator of NF-kappa B ligand

27 November 2018

1 reference

12 December 2020

Otopalatodigital syndrome spectrum disorders: otopalatodigital syndrome types 1 and 2, frontometaphyseal dysplasia and Melnick-Needles syndrome

1 reference

12 December 2020

Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy

1 reference

12 December 2020

Fronto-metaphyseal dysplasia. Further delineation of the clinical syndrome

1 reference

12 December 2020

Interaction of p38 and Sp1 in a mechanical force-induced, beta 1 integrin-mediated transcriptional circuit that regulates the actin-binding protein filamin-A

1 reference

12 December 2020

10.1016/J.AJHG.2016.05.024

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27426733%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:27426733%20AND%20SRC:MED&resulttype=core&format=json

18 March 2020

2 references

4 January 2017