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

about

Protein molecular modeling techniques investigating novel TAB2 variant R347X causing cardiomyopathy and congenital heart defects in multigenerational family.A novel MAP3K7 splice mutation causes cardiospondylocarpofacial syndrome with features of hereditary connective tissue disorder.

P2860

Q52559703-FEC063A2-C24C-4BEB-8AD2-980C959CD0DC Q52691549-9347E44A-591D-4BC8-8F03-09E90B58D418

P2860

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

Item

http://www.wikidata.org/entity/Q48307234

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

@zh-hant

name

A recognizable systemic connec ...... ssociated with TAB2 mutations.

@en

A recognizable systemic connec ...... ssociated with TAB2 mutations.

@nl

type

Item

label

A recognizable systemic connec ...... ssociated with TAB2 mutations.

@en

A recognizable systemic connec ...... ssociated with TAB2 mutations.

@nl

prefLabel

A recognizable systemic connec ...... ssociated with TAB2 mutations.

@en

A recognizable systemic connec ...... ssociated with TAB2 mutations.

@nl

P1476

A recognizable systemic connec ...... ssociated with TAB2 mutations.

@en

P2093

B Torres

http://www.w3.org/2001/XMLSchema#string

D D'Angelantonio

http://www.w3.org/2001/XMLSchema#string

G Santoro

http://www.w3.org/2001/XMLSchema#string

L Bernardini

http://www.w3.org/2001/XMLSchema#string

M Castori

http://www.w3.org/2001/XMLSchema#string

P Grammatico

http://www.w3.org/2001/XMLSchema#string

S Morlino

http://www.w3.org/2001/XMLSchema#string

V Ravasio

http://www.w3.org/2001/XMLSchema#string

P2860

Haploinsufficiency of TAB2 causes congenital heart defects in humans

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

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

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

TAK1 kinase signaling regulates embryonic angiogenesis by modulating endothelial cell survival and migration.

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A.

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

The TAK1-TRAF6 signalling pathway.

Non-Smad signaling pathways.

The 2017 international classification of the Ehlers-Danlos syndromes.

P304

126-133

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1111/CGE.13032

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

P577

2017-04-06T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

28386937

http://www.w3.org/2001/XMLSchema#string

P921

connective tissue

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

about

P2860

P2860

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

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P921