Results 181 to 190 of about 5,428 (208)
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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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Tbx1, subpulmonary myocardium and conotruncal congenital heart defects
Birth Defects Research Part A: Clinical and Molecular Teratology, 2011AbstractConotruncal congenital heart defects, including defects in septation and alignment of the ventricular outlets, account for approximately a third of all congenital heart defects. Failure of the left ventricle to obtain an independent outlet results in incomplete separation of systemic and pulmonary circulation at birth.
Pauline Parisot +3 more
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Lymphatic expression of TBX1 helps to heal the heart
Nature Reviews Immunology, 2023openaire +2 more sources
TBX1 regulates myogenic differentiation by activating the TGFβ-Smad2/3 pathway in myoblasts
Experimental Biology and Medicine, 2023Yu Zhang
exaly
The role of TBX1 in the developing secondary palate
British Journal of Oral and Maxillofacial Surgery, 2013Stephanie Bryan +4 more
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22q11 Deletion Syndrome: A Role for TBX1 in Pharyngeal and Cardiovascular Development
Pediatric Cardiology, 2010Peter J Scambler, Scambler Peter J
exaly