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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Transposisi Arteri Besar dan mutasi gen TBX1
Sari Pediatri, 2016 Latar belakang. Transposisi arteri besar (TAB) adalah suatu penyakit jantung bawaan (PJB) yang termasuk dalam malformasi konotrunkal. Kelainan terasebut ditemukan sekitar 5% dari seluruh PJB.
Sri Endah Rahayuningsih
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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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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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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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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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