Results 41 to 50 of about 5,848 (206)
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
openaire +2 more sources
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
doaj +1 more source
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
openaire +3 more sources
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
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
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
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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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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
Loss of Tbx1 induces bone phenotypes similar to cleidocranial dysplasia
, 2015 T-box transcription factor, TBX1, is the major candidate gene for 22q11.2 deletion syndrome (DiGeorge/ Velo-cardio-facial syndrome) characterized by facial defects, thymus hypoplasia, cardiovascular anomalies and cleft palates.
Funato, Noriko +4 more
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