Journal article
Understanding the Role of Tbx1 as a Candidate Gene for 22q11.2 Deletion Syndrome
Current allergy and asthma reports, Vol.13(6), pp.613-621
12/01/2013
DOI: 10.1007/s11882-013-0384-6
PMCID: PMC3840116
PMID: 23996541
Abstract
22q11.2 deletion syndrome (22q11.2DS) is caused by a commonly occurring microdeletion on chromosome 22. Clinical findings include cardiac malformations, thymic and parathyroid hypoplasia, craniofacial dysmorphisms, and dental defects. These phenotypes are due mainly to abnormal development of the pharyngeal apparatus. Targeted deletion studies in mice and analysis of naturally occurring mutations in humans have implicated Tbx1 as a candidate gene for 22q11.2DS. Tbx1 belongs to an evolutionarily conserved T-box family of transcription factors, whose expression is precisely regulated during embryogenesis, and it appears to regulate the proliferation and differentiation of various progenitor cells during organogenesis. In this review, we discuss the mechanisms of Tbx1 during development of the heart, thymus and parathyroid glands, as well as during formation of the palate, teeth, and other craniofacial features.
Details
- Title: Subtitle
- Understanding the Role of Tbx1 as a Candidate Gene for 22q11.2 Deletion Syndrome
- Creators
- Shan Gao - Texas A&M Health Science CenterXiao Li - University of IowaBrad A. Amendt - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Current allergy and asthma reports, Vol.13(6), pp.613-621
- DOI
- 10.1007/s11882-013-0384-6
- PMID
- 23996541
- PMCID
- PMC3840116
- NLM abbreviation
- Curr Allergy Asthma Rep
- ISSN
- 1529-7322
- eISSN
- 1534-6315
- Publisher
- Current Medicine Group
- Number of pages
- 9
- Grant note
- DE013941; DE018885 / National Institute of Dental and Craniofacial Research; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Dental & Craniofacial Research (NIDCR) R01DE018885 / NATIONAL INSTITUTE OF DENTAL & CRANIOFACIAL RESEARCH; United States Department of Health & Human Services; National Institutes of Health (NIH) - USA; NIH National Institute of Dental & Craniofacial Research (NIDCR)
- Language
- English
- Date published
- 12/01/2013
- Academic Unit
- Orthodontics; Anatomy and Cell Biology; Craniofacial Anomalies Research Center; Dental Research
- Record Identifier
- 9984284356902771
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