Results 31 to 40 of about 4,765 (175)
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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Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat.
PLoS ONE, 2014 Haploinsufficiency or mutation of TBX1 is largely responsible for the etiology of physical malformations in individuals with velo-cardio-facial/DiGeorge syndrome (VCFS/DGS/22q11.2 deletion syndrome).
Raquel Castellanos +4 more
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The del22q11.2 candidate gene Tbx1 regulates branchiomeric myogenesis [PDF]
Human Molecular Genetics, 2004 Formation and remodeling of the pharyngeal arches play central roles in craniofacial development. TBX1, encoding a T-box-containing transcription factor, is the major candidate gene for del22q11.2 (DiGeorge or velo-cardio-facial) syndrome, characterized by craniofacial defects, thymic hypoplasia, cardiovascular anomalies, velopharyngeal insufficiency ...
Robert G, Kelly +2 more
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Rebalancing gene haploinsufficiency in vivo by targeting chromatin
Nature Communications, 2016 Deficit in transcription factor Tbx1 causes heart defects in humans and mice. Here the authors show that Tbx1 regulates gene expression by recruiting histone methyltransferases that affect chromatin marks, and that a drug inhibiting histone demethylation
Filomena Gabriella Fulcoli +5 more
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Disease Models & Mechanisms, 2018 The TBX1 gene is haploinsufficient in 22q11.2 deletion syndrome (22q11.2DS), and genetic evidence from human patients and mouse models points to a major role of this gene in the pathogenesis of this syndrome.
Luna Simona Pane +6 more
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NK4 antagonizes Tbx1/10 to promote cardiac versus pharyngeal muscle fate in the ascidian second heart field. [PDF]
PLoS Biology, 2013 The heart and head muscles share common developmental origins and genetic underpinnings in vertebrates, including humans. Parts of the heart and cranio-facial musculature derive from common mesodermal progenitors that express NKX2-5, ISL1, and TBX1. This
Wei Wang +4 more
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A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
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Tbx1 regulates oral epithelial adhesion and palatal development [PDF]
Human Molecular Genetics, 2012 Cleft palate, the most frequent congenital craniofacial birth defect, is a multifactorial condition induced by the interaction of genetic and environmental factors. In addition to complete cleft palate, a large number of human cases involve soft palate cleft and submucosal cleft palate.
Noriko, Funato +4 more
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Chromatin regulators in the TBX1 network confer risk for conotruncal heart defects in 22q11.2DS
npj Genomic Medicine, 2023 Congenital heart disease (CHD) affecting the conotruncal region of the heart, occurs in 40–50% of patients with 22q11.2 deletion syndrome (22q11.2DS). This syndrome is a rare disorder with relative genetic homogeneity that can facilitate identification ...
Yingjie Zhao +52 more
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