Results 51 to 60 of about 5,584 (206)
Tbx1 regulates Vegfr3 and is required for lymphatic vessel development [PDF]
, 2010 Lymphatic dysfunction causes several human diseases, and tumor lymphangiogenesis is implicated in cancer spreading. TBX1 is the major gene for DiGeorge syndrome, which is associated with multiple congenital anomalies.
MUPA A +38 more
core +1 more source
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
doaj +1 more source
TBX1 Transcription Factor: mechanisms of gene regulation [PDF]
, 2018 The Tbx1 gene encodes a transcription factor, TBX1, critical for heart development in several species, including humans. The haploinsufficiency of this gene is associated with DiGeorge Syndrome (DGS) named also 22q11.2 Deletion Syndrome (22q11.2DS) which
Cirino, Andrea
core +1 more source
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
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
openaire +2 more sources
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
doaj +1 more source
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
doaj +1 more source
Tumor‐Derived Exosomal piR‐hsa‐28212 Promotes Lymphatic Metastasis in Breast Cancer
Cancer Science, EarlyView.Breast cancer–derived exosomal piR‐hsa‐28212 promotes lymphangiogenesis and lymph node metastasis by activating VEGFC/VEGFR3 signaling. It stabilizes TBX1 mRNA in lymphatic endothelial cells and METTL3 protein in tumor cells, enhancing VEGFR3 expression and VEGFC secretion.
Yafen Wang +7 more
wiley +1 more source
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
core +1 more source
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
openaire +2 more sources