Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

doi:10.1016/j.ajhg.2016.05.024

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.

American journal of human genetics - 4 Aug 2016

Wade Emma M, Daniel Philip B, Jenkins Zandra A, McInerney-Leo Aideen, Leo Paul, Morgan Tim, Addor Marie Claude, Adès Lesley C, Bertola Debora, Bohring Axel, Carter Erin, Cho Tae-Joon, Duba Hans-Christoph, Fletcher Elaine, Kim Chong A, Krakow Deborah, Morava Eva, Neuhann Teresa, Superti-Furga Andrea, Veenstra-Knol Irma, Wieczorek Dagmar, Wilson Louise C, Hennekam Raoul C M, Sutherland-Smith Andrew J, Strom Tim M, Wilkie Andrew O M, Brown Matthew A, Duncan Emma L, Markie David M, Robertson Stephen P

Abstract excerpt

Frontometaphyseal dysplasia (FMD) is a progressive sclerosing skeletal dysplasia affecting the long bones and skull. The cause of FMD in some individuals is gain-of-function mutations in FLNA, although how these mutations result in a hyperostotic phenotype remains unknown. Approximately one half of individuals with FMD have no identified mutation in FLNA and are phenotypically very similar to individuals with...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adaptor Proteins, Signal Transducing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Filamins

Share to MAP Kinase Kinase Kinases

Share to MAP Kinase Signaling System

Share to NF-kappa B

Share to Osteochondrodysplasias

Share to Phosphorylation

Share to Protein Multimerization

Source

Open in PubMed Open full text

Identifiers

PMID: 27426733
DOI: 10.1016/j.ajhg.2016.05.024
PMCID: PMC4974064

Genes

FLNA
TAB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in MAP3K7 that Alter the Activity of the TAK1 Signaling Complex Cause Frontometaphyseal Dysplasia.PMID 27426733Read ↗

Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotypeSemantic proximity Read ↗

Insights into the molecular pathogenesis of cardiospondylocarpofacial syndrome: MAP3K7 c.737-7A > G variant alters the TGFβ-mediated α-SMA cytoskeleton assembly and autophagy.Semantic proximity Read ↗

A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.Semantic proximity Read ↗

A Novel MAP3K7 Variant Causing Loss of Function Identified in a Family With Cardiospondylocarpofacial Syndrome: Functional Validation and Molecular Insights.Semantic proximity Read ↗

Expansion of the clinical spectrum of frontometaphyseal dysplasia 2 caused by the recurrent mutation p.Pro485Leu in MAP3K7.Semantic proximity Read ↗

A multi-omics approach expands the mutational spectrum of MAP2K1-related melorheostosis.Semantic proximity Read ↗

Heterozygous Mutations in MAP3K7, Encoding TGF-β-Activated Kinase 1, Cause Cardiospondylocarpofacial Syndrome.Semantic proximity Read ↗

Involvement of MAP3K7 in FMD2 and CSCF, delineation of genotype/phenotype correlations.Semantic proximity Read ↗

Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati-Engelmann disease type II.Semantic proximity Read ↗

A novel variant in MAP3K7 associated with an expanded cardiospondylocarpofacial syndrome phenotype.Semantic proximity Read ↗

A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations.Semantic proximity Read ↗

Somatic SMAD3-activating mutations cause melorheostosis by up-regulating the TGF-β/SMAD pathway.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.