Results 11 to 20 of about 8,343 (220)
Tbx1 regulates brain vascularization [PDF]
Human Molecular Genetics, 2013 The transcription factor TBX1 is the major gene involved in 22q11.2 deletion syndrome (22q11.2DS). Using mouse models of these diseases, we have previously shown that TBX1 activates VEGFR3 in endothelial cells (EC), and that this interaction is critical for the development of the lymphatic vasculature.
Cioffi, Sara +6 more
openaire +5 more sources
Scientific Reports, 2022 TBX1, which encodes a T-box transcription factor, is considered a candidate gene for DiGeorge syndrome, velocardiofacial syndrome, and conotruncal anomaly face syndrome.
Noriko Funato, Hiromi Yanagisawa
doaj +1 more source
Tbx1 is a negative modulator of Mef2c [PDF]
Human Molecular Genetics, 2012 The developmental role of the T-box transcription factor Tbx1 is exquisitely dosage-sensitive. In this study, we performed a microarray-based transcriptome analysis of E9.5 embryo tissues across a previously generated Tbx1 mouse allelic series. This analysis identified several genes whose expression was affected by Tbx1 dosage.
Pane L. S +5 more
openaire +5 more sources
DiGeorge syndrome gene tbx1 functions through wnt11r to regulate heart looping and differentiation. [PDF]
PLoS ONE, 2013 DiGeorge syndrome (DGS) is the most common microdeletion syndrome, and is characterized by congenital cardiac, craniofacial and immune system abnormalities. The cardiac defects in DGS patients include conotruncal and ventricular septal defects.
Priya Choudhry, Nikolaus S Trede
doaj +1 more source
TBX1 is required for inner ear morphogenesis [PDF]
Human Molecular Genetics, 2003 TBX1 is thought to be a critical gene in the pathogenesis of del22q11/DiGeorge syndrome (DGS). Morphological abnormalities of the external ear and hearing impairment (conductive or sensorineural) affect the majority of patients. Here we show that homozygous mutation of the mouse homolog Tbx1 is associated with severe inner ear defects that prevent the ...
F. Vitelli +5 more
openaire +5 more sources
Orphanet Journal of Rare Diseases, 2021 Background TBX1 (T-box transcription factor 1) is a major candidate gene that likely contributes to the etiology of velo-cardio-facial syndrome/DiGeorge syndrome (VCFS/DGS).
Xuechao Jiang +8 more
doaj +1 more source
VEGFR3 modulates brain microvessel branching in a mouse model of 22q11.2 deletion syndrome
Life Science Alliance, 2022 This study provides genetic evidence that VEGFR3 regulates vessel branching and filopodia formation in the embryonic mouse brain and is a likely mediator of brain vessel anomalies in Tbx1 mutant mice.
Sara Cioffi +5 more
doaj +1 more source
Frontiers in Molecular Neuroscience, 2021 ObjectivesTbx1 mutant mice are a widely used model of 22q11.2 deletion syndrome (22q11.2DS) because they manifest a broad spectrum of physical and behavioral abnormalities that is similar to that found in 22q11.2DS patients.
Ilaria Favicchia +6 more
doaj +1 more source
Reduced dosage of β-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome. [PDF]
PLoS Genetics, 2017 The 22q11.2 deletion syndrome (22q11.2DS; velo-cardio-facial syndrome; DiGeorge syndrome) is a congenital anomaly disorder in which haploinsufficiency of TBX1, encoding a T-box transcription factor, is the major candidate for cardiac outflow tract (OFT ...
Silvia E Racedo +8 more
doaj +1 more source
The occipital lateral plate mesoderm is a novel source for vertebrate neck musculature [PDF]
, 2010 In vertebrates, body musculature originates from somites, whereas head muscles originate from the cranial mesoderm. Neck muscles are located in the transition between these regions.
Christ, B. +9 more
core +1 more source