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
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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
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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
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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
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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
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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
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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
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Tbx1 regulates the BMP-Smad1 pathway in a transcription independent manner.
PLoS ONE, 2009 Tbx1 is a T-box transcription factor implicated in DiGeorge syndrome. The molecular function of Tbx1 is unclear although it can transactivate reporters with T-box binding elements.
F Gabriella Fulcoli +3 more
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Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency. [PDF]
PLoS ONE, 2018 The CXCL12-CXCR4 pathway has crucial roles in stem cell homing and maintenance, neuronal guidance, cancer progression, inflammation, remote-conditioning, cell migration and development.
Mahalia Page +5 more
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Endoderm‐specific deletion of Tbx1 reveals an FGF‐independent role for Tbx1 in pharyngeal apparatus morphogenesis [PDF]
Developmental Dynamics, 2014 Background: The T‐box transcription factor Tbx1, is essential for the normal development of multiple organ systems in the embryo. One of the most striking phenotypes in Tbx1−/− embryos is the failure of the caudal pharyngeal pouches to evaginate from the foregut endoderm.
Jackson, Abigail +4 more
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