Results 21 to 30 of about 4,652 (175)
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
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
doaj +1 more source
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
doaj +1 more source
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
openaire +3 more sources
Disease Models & Mechanisms, 2021 The Ezh2 gene encodes a histone methyltransferase of the polycomb repressive complex 2 that methylates histone H3 lysine 27. In this study, we investigated whether EZH2 has a role in the development of the pharyngeal apparatus and whether it regulates ...
Cinzia Caprio +5 more
doaj +1 more source
A Novel TBX1 Variant Causing Hypoparathyroidism and Deafness [PDF]
Journal of the Endocrine Society, 2019 Abstract Background The TBX1 gene encodes the T-box 1 protein that is a transcription factor involved in development. Haploinsufficiency of the TBX1 gene is reported to cause features similar to DiGeorge syndrome.
Rabih Halwani +8 more
openaire +3 more sources