The goal of this project is to study the developmental profile in mouse of genes that map within the VCFS critical region. Knock-out and deletion mice that have been generated by Project III will be characterized and include Gscl -/- mice, Arvcf-/- mice, and Idd-Arvcf deletion mice. The principal investigator will compare the developmental expression profile between normal mice embryos and the knock-out/deletion mice using two techniques; DNA microarrays and cDNA representational difference analysis. The investigator will use a similar strategy to characterize knock-out mice that delete non-chromosome 22 genes but present with abnormalities similar to VCFS. These mice include the endothelin-A receptor knock-out mouse and the Hoxa-3 knock-out mouse. Finally, the investigator will continue to characterize the developmental profile of mouse genes that are orthologous to genes identified in Project I.
| 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 |
| Herman, Sean B; Guo, Tingwei; McGinn, Donna M McDonald et al. (2012) Overt cleft palate phenotype and TBX1 genotype correlations in velo-cardio-facial/DiGeorge/22q11.2 deletion syndrome patients. Am J Med Genet A 158A:2781-7 |
| John, Anitha S; McDonald-McGinn, Donna M; Zackai, Elaine H et al. (2009) Aortic root dilation in patients with 22q11.2 deletion syndrome. Am J Med Genet A 149A:939-42 |
| Burdick, Katherine E; Funke, Birgit; Goldberg, Joseph F et al. (2007) COMT genotype increases risk for bipolar I disorder and influences neurocognitive performance. Bipolar Disord 9:370-6 |
| Funke, Birgit H; Lencz, Todd; Finn, Christine T et al. (2007) Analysis of TBX1 variation in patients with psychotic and affective disorders. Mol Med 13:407-14 |
| DeRosse, Pamela; Funke, Birgit; Burdick, Katherine E et al. (2006) COMT genotype and manic symptoms in schizophrenia. Schizophr Res 87:28-31 |
| Chegar, Burke E; Tatum 3rd, Sherard A; Marrinan, Eileen et al. (2006) Upper airway asymmetry in velo-cardio-facial syndrome. Int J Pediatr Otorhinolaryngol 70:1375-81 |
| Burdick, Katherine E; Lencz, Todd; Funke, Birgit et al. (2006) Genetic variation in DTNBP1 influences general cognitive ability. Hum Mol Genet 15:1563-8 |
| Long, Jeffrey M; LaPorte, Patricia; Merscher, Sandra et al. (2006) Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome. Neurogenetics 7:247-57 |
| DeRosse, Pamela; Funke, Birgit; Burdick, Katherine E et al. (2006) Dysbindin genotype and negative symptoms in schizophrenia. Am J Psychiatry 163:532-4 |
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