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Role of TBX1 in human del22q11.2 syndrome
Lancet, The, 2003Del22q11.2 syndrome is the most frequent known chromosomal microdeletion syndrome, with an incidence of 1 in 4000-5000 livebirths. It is characterised by a 3-Mb deletion on chromosome 22q11.2, cardiac abnormalities, T-cell deficits, cleft palate facial anomalies, and hypocalcaemia. At least 30 genes have been mapped to the deleted region.
Takashi Sasaki +2 more
exaly +3 more sources
Current topics in developmental biology, 2017
Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7.5 in mouse embryos and continues to be expressed in a highly dynamic manner.
A. Baldini, F.G. Fulcoli, E. Illingworth
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Recent data have paved the way to mechanistic studies into the role of Tbx1 during development. Tbx1 is haploinsufficient and is involved in an important genetic disorder. The gene encodes a T-box transcription factor that is expressed from approximately E7.5 in mouse embryos and continues to be expressed in a highly dynamic manner.
A. Baldini, F.G. Fulcoli, E. Illingworth
openaire +4 more sources
Cloning and characterization of zebrafish tbx1
Gene Expression Patterns, 2003Tbx1 is one of the genes within the DiGeorge Critical Region (DGCR) and has been recently identified as the critical gene for the cardiovascular anomalies in the DiGeorge mouse models. We have cloned, sequenced and analyzed the zebrafish (Danio rerio) tbx1 cDNA.
Lazaros K, Kochilas +4 more
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Absence of the vagus nerve in the stomach of Tbx1−/− mutant mice
Neurogastroenterology and Motility, 2011Tbx1 is a member of the Tbox family of binding domain transcription factors. TBX1 maps within the region of chromosome 22q11 deleted in humans with DiGeorge syndrome (DGS), a common genetic disorder characterized by numerous physical manifestations including craniofacial and cardiac anomalies.
Peter Scambler
exaly +3 more sources
Tbx1 antagonizes thymus organogenesis (86.4)
The Journal of Immunology, 2009Abstract The thymus and parathyroids originate from organ-specific domains in endoderm of the 3rd pharyngeal pouch (PP), identified by Foxn1 and Gcm2 expression respectively at embryonic day 11 (E11). The molecular mechanisms regulating fate determination in the 3rd PP are not clear.
Kim T Cardenas +5 more
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Dissecting contiguous gene defects: TBX1
Current Opinion in Genetics & Development, 2005DiGeorge syndrome is mainly caused by a multigene, heterozygous, interstitial chromosomal deletion. Of the approximately 30 deleted genes, Tbx1 is the only gene that, after an extensive functional analysis in the mouse, has been found to be haploinsufficient.
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TBX1 Regulates Chondrocyte Maturation in the Spheno-occipital Synchondrosis
Journal of Dental Research, 2020The synchondrosis in the cranial base is an important growth center for the craniofacial region. Abnormalities in the synchondroses affect the development of adjacent regions, including the craniofacial skeleton. Here, we report that the transcription factor TBX1, the candidate gene for DiGeorge syndrome, is expressed in mesoderm-derived chondrocytes ...
N. Funato +3 more
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Phenotypic variability of atypical 22q11.2 deletions not includingTBX1
American Journal of Medical Genetics Part A, 2012AbstractInterstitial deletions of the chromosome 22q11.2 region are the most common microdeletions in humans. TheTBX1gene is considered to be the major candidate gene for the main features in 22q11.2 deletion syndrome, including congenital heart malformations, (para)thyroid hypoplasia, and craniofacial abnormalities.
Verhagen, Judith +14 more
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