TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome.

By S. Merscher, Birgit Funke, J. Epstein, J. Heyer, A. Puech, M. Lu, Ramnik J. Xavier, M. Demay, Robert G. Russell, S. Factor and 14 more. Cell, 2001

962 citations recorded by the source corpus.

How researchers see this paper

The researchers whose trusted networks rank it highest, strongest advocate first. Every researcher gets a different order.

Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model (2008, background): “Results Df(16)A +/− mice show behavioral and cognitive deficits Using chromosomal engineerin”
A census of human transcription factors: function, expression and evolution (2009, background): “For example, TBX1, although primarily known as a developmental facto”
The developmental genetics of congenital heart disease (2008, background): “In mouse chromosome-engineering studies, another transcription factor gene, Tbx1 , was pinpointed as the likely single-gene culprit in 22q11 microdeletion syndrome (also known as DiGeorge syndrome), which is characterized by congenital heart diseases such as TOF, PTA and IA”
Building the mammalian heart from two sources of myocardial cells (2005, neutral): “fcgi?db=gene&cmd=Retrieve&dopt=full_report&list_uids=21380"> Tbx1 (T-box 1) mutant mic”
Essential Role for ADAM19 in Cardiovascular Morphogenesis (2004, background): “It will now be interesting to further explore potential functional connections between ADAM19 and these proteins as well as other molecules that are implicated in endocardial cushion transformation and/or conotruncal defects, such as RXR, smad6, and TBX1 (14, 16, 21, 31, 35 ).”