We will determine the molecular pathogenesis of CTDs by taking mouse genetics approaches. We propose that Tbxl genetic pathways are required for cardiac outflow tract development and when altered alters risk to CTDs in 22q11DS (Project 1) and more frequent non-syndromic forms (Project 2).

Agency
National Institute of Health (NIH)
Type
Research Program Projects (P01)
Project #
5P01HD070454-04
Application #
8700164
Study Section
Special Emphasis Panel (ZHD1)
Project Start
Project End
Budget Start
Budget End
Support Year
4
Fiscal Year
2014
Total Cost
Indirect Cost
Name
Albert Einstein College of Medicine
Department
Type
DUNS #
City
Bronx
State
NY
Country
United States
Zip Code
10461
Jackson, Abigail; Kasah, Sahrunizam; Mansour, Suzanne L et al. (2014) Endoderm-specific deletion of Tbx1 reveals an FGF-independent role for Tbx1 in pharyngeal apparatus morphogenesis. Dev Dyn 243:1143-51
Agopian, A J; Mitchell, Laura E; Glessner, Joseph et al. (2014) Genome-wide association study of maternal and inherited loci for conotruncal heart defects. PLoS One 9:e96057
Wang, Tao; Zhou, Baiyu; Guo, Tingwei et al. (2014) A robust method for genome-wide association meta-analysis with the application to circulating insulin-like growth factor I concentrations. Genet Epidemiol 38:162-71
Castellanos, Raquel; Xie, Qing; Zheng, Deyou et al. (2014) Mammalian TBX1 preferentially binds and regulates downstream targets via a tandem T-site repeat. PLoS One 9:e95151
Yi, James J; Tang, Sunny X; McDonald-McGinn, Donna M et al. (2014) Contribution of congenital heart disease to neuropsychiatric outcome in school-age children with 22q11.2 deletion syndrome. Am J Med Genet B Neuropsychiatr Genet 165B:137-47
Schneider, Maude; Debbané, Martin; Bassett, Anne S et al. (2014) Psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome: results from the International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome. Am J Psychiatry 171:627-39
Kong, Ping; Racedo, Silvia E; Macchiarulo, Stephania et al. (2014) Tbx1 is required autonomously for cell survival and fate in the pharyngeal core mesoderm to form the muscles of mastication. Hum Mol Genet 23:4215-31
Widdershoven, Josine C C; Bowser, Mark; Sheridan, Molly B et al. (2013) A candidate gene approach to identify modifiers of the palatal phenotype in 22q11.2 deletion syndrome patients. Int J Pediatr Otorhinolaryngol 77:123-7
Delio, Maria; Guo, Tingwei; McDonald-McGinn, Donna M et al. (2013) Enhanced maternal origin of the 22q11.2 deletion in velocardiofacial and DiGeorge syndromes. Am J Hum Genet 92:439-47
McDonald-McGinn, Donna M; Fahiminiya, Somayyeh; Revil, Timothee et al. (2013) Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet 50:80-90