A recognizable systemic connective tissue disorder with polyvalvular heart dystrophy and dysmorphism associated with TAB2 mutations-Reference-Cited by-同舟云学术

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

Published:2017-08-21 Issue:1 Volume:93 Page:126-133
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Ritelli M.¹,Morlino S.²,Giacopuzzi E.¹,Bernardini L.³,Torres B.³,Santoro G.¹,Ravasio V.¹,Chiarelli N.¹,D'Angelantonio D.²,Novelli A.⁴,Grammatico P.²,Colombi M.¹^ORCID,Castori M.⁵

Affiliation:

1. Division of Biology and Genetics, Department of Molecular and Translational Medicine; University of Brescia; Brescia Italy

2. Division/Laboratory of Medical Genetics, Department of Molecular Medicine; University “La Sapienza”, San Camillo-Forlanini Hospital; Rome Italy

3. Unità di Citogenetica; IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo (Foggia) Italy

4. Laboratory of Medical Genetics; Bambino Gesù Children's Hospital, IRCCS; Rome Italy

5. Unità di Genetica Medica; IRCCS Casa Sollievo della Sofferenza; San Giovanni Rotondo (Foggia) Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/cge.13032/fullpdf

Reference22 articles.

1. TAB2, a novel adaptor protein, mediates activation of TAK1 MAPKKK by linking TAK1 to TRAF6 in the IL-1 signal transduction pathway;Takaesu;Mol Cell,2000

2. The TAK1-TRAF6 signalling pathway;Landström;Int J Biochem Cell Biol,2010

3. Pivotal role of cardiomyocyte TGF-β signaling in the murine pathological response to sustained pressure overload;Koitabashi;J Clin Invest,2011

4. TAK1 kinase signaling regulates embryonic angiogenesis by modulating endothelial cell survival and migration;Morioka;Blood,2012

5. Haploinsufficiency of TAB2 causes congenital heart defects in humans;Thienpont;Am J Hum Genet,2010

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