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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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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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
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Endothelial neuropilin disruption in mice causes DiGeorge syndrome-like malformations via mechanisms distinct to those caused by loss of Tbx1. [PDF]
PLoS ONE, 2012 The spectrum of human congenital malformations known as DiGeorge syndrome (DGS) is replicated in mice by mutation of Tbx1. Vegfa has been proposed as a modifier of DGS, based in part on the occurrence of comparable phenotypes in Tbx1 and Vegfa mutant ...
Jingjing Zhou +2 more
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Heterozygous Mutations in TBX1 as a Cause of Isolated Hypoparathyroidism [PDF]
The Journal of Clinical Endocrinology & Metabolism, 2018 Most cases of autosomal dominant isolated hypoparathyroidism are caused by gain-of-function mutations in CASR or GNA11 or dominant negative mutations in GCM2 or PTH.To identify the genetic etiology for dominantly transmitted isolated hypoparathyroidism in two multigenerational families with 14 affected family members.We performed whole exome sequencing
Dong Li +8 more
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TBX1 Represses Vegfr2 Gene Expression and Enhances the Cardiac Fate of VEGFR2+ Cells.
PLoS ONE, 2015 The T-box transcription factor TBX1 has critical roles in maintaining proliferation and inhibiting differentiation of cardiac progenitor cells of the second heart field (SHF).
Gabriella Lania +2 more
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Chromatin and Transcriptional Response to Loss of TBX1 in Early Differentiation of Mouse Cells
Frontiers in Cell and Developmental Biology, 2020 The T-box transcription factor TBX1 has critical roles in the cardiopharyngeal lineage and the gene is haploinsufficient in DiGeorge syndrome, a typical developmental anomaly of the pharyngeal apparatus. Despite almost two decades of research, if and how
Andrea Cirino +11 more
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Tbx1 functions in pharyngeal arch and cardiovascular development [PDF]
, 2014 Tbx1, a gene encoding a T-box transcription factor, is required for embryonic development in humans and mice. Half dosage of this gene causes most of the features of the DiGeorge or Velocardiofacial syndrome phenotypes, including aortic arch and cardiac ...
Caprio, Cinzia
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Chordin is a modifier of tbx1 for the craniofacial malformations of 22q11 deletion syndrome phenotypes in mouse. [PDF]
PLoS Genetics, 2009 Point mutations in TBX1 can recapitulate many of the structural defects of 22q11 deletion syndromes (22q11DS), usually associated with a chromosomal deletion at 22q1.2.
Murim Choi, John Klingensmith
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PLoS ONE, 2019 INTRODUCTION AND HYPOTHESIS:Patients with 22q11 deletion syndrome (22q11.2DS) present, in about 75% of cases, typical patterns of cardiac defects, with a particular involvement on the ventricular outflow tract and great arteries. However, in this genetic
Gioia Mastromoro +16 more
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