Haploinsufficiency of TAB2 causes congenital heart defects in humans (Q24314581)

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3 February 2020

title

Haploinsufficiency of TAB2 causes congenital heart defects in humans (English)

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TGF-beta activated kinase 1 (MAP3K7) binding protein 2

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GOA release 2020-03-11

heart development

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TGF-beta activated kinase 1 (MAP3K7) binding protein 2

GOA release 2020-03-11

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GOA release 2020-03-11

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Léon-Charles Tranchevent

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Yves Moreau

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Jeroen Breckpot

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Kjeld Møllgård

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Darrel Waggoner

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Klaartje van Engelen

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Koen Devriendt

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language of work or name

English

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publication date

20 May 2010

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American Journal of Human Genetics

3 February 2020

published in

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volume

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issue

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page(s)

839-849

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Direct activation of protein kinases by unanchored polyubiquitin chains

3 February 2020

cites work

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Mutations in GATA4, NKX2.5, CRELD1, and BMP4 are infrequently found in patients with congenital cardiac septal defects

19 March 2017

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Identification and functional analysis of CITED2 mutations in patients with congenital heart defects

19 March 2017

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Collaboratively charting the gene-to-phenotype network of human congenital heart defects

19 March 2017

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The TGF beta activated kinase TAK1 regulates vascular development in vivo

19 March 2017

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TAK1, but not TAB1 or TAB2, plays an essential role in multiple signaling pathways in vivo

19 March 2017

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Reduced NODAL signaling strength via mutation of several pathway members including FOXH1 is linked to human heart defects and holoprosencephaly

27 September 2017

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27 September 2017

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Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pedia

27 September 2017

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27 September 2017

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Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients

27 September 2017

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Familial recurrence of congenital heart disease: an overview and review of the literature.

27 September 2017

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A pivotal role for endogenous TGF-beta-activated kinase-1 in the LKB1/AMP-activated protein kinase energy-sensor pathway

27 September 2017

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27 September 2017

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Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports

27 September 2017

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CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design, and first results

27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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27 September 2017

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30 May 2018

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29 November 2018

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29 November 2018

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12 December 2020

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Identifiers

DOI

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3 February 2020

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3 February 2020

PubMed publication ID

20493459

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