The long term goal of Project IV is to define the genetic and biological bases for abnormalities seen in Down Syndrome (Trisomy 21, Ts21) patients, using genetically defined and genetically manipulated mouse model systems. The Down Syndrome region of human Chromosome (Chr) 21 is conserved in at least three mouse chromosomes -- Chrs 10, 16, and 17. In my laboratory, we have produced a mouse stain that carries segmental trisomy for most of the region of mouse Chromosome (Chr) 16 that is homologous with Down Syndrome region of human Chr 21. In Dr. Gearhart;s laboratory, transgenic strains carrying extra copies of genes from the Chr 10 and Chr 17 segments are being produced. The objectives of Project IV are to (1) combined the Chr 16 trisomic segment with these transgenes by standard breeding protocols, (2) study the pathologic effects of the combinations produced, and (3) provide an intact adult mouse model for testing therapies.
| Singh, Nandini; Dutka, Tara; Devenney, Benjamin M et al. (2015) Acute upregulation of hedgehog signaling in mice causes differential effects on cranial morphology. Dis Model Mech 8:271-9 |
| Bean, Lora J H; Allen, Emily G; Tinker, Stuart W et al. (2011) Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project. Birth Defects Res A Clin Mol Teratol 91:885-93 |
| Locke, Adam E; Dooley, Kenneth J; Tinker, Stuart W et al. (2010) Variation in folate pathway genes contributes to risk of congenital heart defects among individuals with Down syndrome. Genet Epidemiol 34:613-23 |
| Freeman, S B; Torfs, C P; Romitti, P A et al. (2009) Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects. Clin Genet 75:180-4 |
| Lin, Yan; Tseng, George C; Cheong, Soo Yeon et al. (2008) Smarter clustering methods for SNP genotype calling. Bioinformatics 24:2665-71 |
| Freeman, Sallie B; Bean, Lora H; Allen, Emily G et al. (2008) Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med 10:173-80 |
| Parsons, Trish; Ryan, Timothy M; Reeves, Roger H et al. (2007) Microstructure of trabecular bone in a mouse model for Down syndrome. Anat Rec (Hoboken) 290:414-21 |
| Roper, Randall J; St John, Heidi K; Philip, Jessica et al. (2006) Perinatal loss of Ts65Dn Down syndrome mice. Genetics 172:437-43 |
| Maslen, Cheryl L; Babcock, Darcie; Robinson, Susan W et al. (2006) CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down syndrome. Am J Med Genet A 140:2501-5 |
| Richtsmeier, Joan T; Aldridge, Kristina; DeLeon, Valerie B et al. (2006) Phenotypic integration of neurocranium and brain. J Exp Zool B Mol Dev Evol 306:360-78 |
Showing the most recent 10 out of 114 publications
