Results 41 to 50 of about 8,343 (220)
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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Mapping cellular processes in the mesenchyme during palatal development in the absence of Tbx1 reveals complex proliferation changes and perturbed cell packing and polarity [PDF]
, 2015 The 22q11 deletion syndromes represent a spectrum of overlapping conditions including cardiac defects and craniofacial malformations. Amongst the craniofacial anomalies that are seen, cleft of the secondary palate is a common feature.
Brock, Lara J. +3 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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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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Thymus transplantation for complete DiGeorge syndrome: European experience [PDF]
, 2017 Background: Thymus transplantation is a promising strategy for the treatment of athymic complete DiGeorge syndrome (cDGS). Methods: Twelve patients with cDGS were transplanted with allogeneic cultured thymus.
Adrian J. Thrasher +59 more
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Tbx1 is necessary for palatal elongation and elevation
Mechanisms of Development, 2010 The transcription factor TBX1 is a key mediator of developmental abnormalities associated with DiGeorge/Velocardiofacial Syndrome. Studies in mice have demonstrated that decreased dosage of Tbx1 results in defects in pharyngeal arch, cardiovascular, and craniofacial development.
Goudy, Steven +4 more
openaire +2 more sources
Role of the hindbrain in dorsoventral but not anteroposterior axial specification of the inner ear [PDF]
, 2005 An early and crucial event in vertebrate inner ear development is the acquisition of axial identities that in turn dictate the positions of all subsequent inner ear components.
Bok, Jinwoong +2 more
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Tbx1 is required for second heart field proliferation in zebrafish [PDF]
Developmental Dynamics, 2013 Background: The mammalian outflow tract (OFT) and primitive right ventricle arise by accretion of newly differentiated cells to the arterial pole of the heart tube from multi‐potent progenitor cells of the second heart field (SHF). While mounting evidence suggests that the genetic pathways regulating SHF development are highly conserved in zebrafish ...
Kathleen, Nevis +5 more
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Tbx1 orchestrates an immune niche that safeguards a broken heart
Immunity, 2023 Cardiac lymphatics cooperate with the reparative immune response in myocardial healing after infarction. In this issue of Immunity, Wang and colleagues discover a mechanism underlying this cooperation, dependent on the transcription factor Tbx1 and responsible for the creation of an immunosuppressive niche that mitigates autoimmunity.
Perrotta, Sara, Carnevale, Daniela
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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
doaj +1 more source