Dr. Hart is a periodontist and geneticist who specializes in identifying the genetic basis of diseases of dental and craniofacial importance. Craniofacial/dental manifestations are present in more than 30% of the 7,000 reported genetic disorders. Working with clinicians and scientists in the USA, Europe and South America, we have identified and characterized pathologic clinical findings in a number of diverse genetic disorders. Additionally, we have identified the underlying genetic mutations that cause these conditions in order to understand how these genetic changes cause disease . Specific diseases studied include amelogenesis imperfecta, dentinogenesis imperfecta, gingival overgrowth and various forms of periodontitis. Approaches used in our studies include clinical phenotyping, cell culture, immunohistochemistry, studies of animal models, bioinformatics and an array of molecular genetic techniques.
Choi SJ, Song IS, Feng JQ, Gao T, Haruyama N, Gautam P, Robey PG, Hart TC. 2010. Mutant DLX 3 disrupts odontoblast polarization and dentin formation. Dev Biol 15;344(2):682-92.
Hart TC, Hart PS. 2009. Genetic studies of craniofacial anomalies: clinical implications and applications. Orthod Craniofac Res 12(3):212-20.
Hart PS, Becerik S, Cogulu D, Emingil G, Ozdemir-Ozenen D, Han ST, Sulima PP, Firatli E, Hart TC. 2009. Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta. Clin Genet 75(4):401-4.
Domingo DL, Freeman AF, Davis J, Puck JM, Tianxia W, Holland SM, Hart TC. 2008. Novel intraoral phenotypes in hyperimmunoglobulin-E syndrome. Oral Dis 14(1):73-81.
Ryu OH, Choi SJ, Linares AM, Song IS, Kim YJ, Jang KT, Hart TC. 2007. Gingival epithelial cell expression of macrophage inflammatory protein-1alpha induced by interleukin-1beta and lipopolysaccharide. J Periodontol 78(8):1627-34.
Jang SI, Lee EJ, Hart PS, Ramaswami M, Pallos D, Hart TC. 2007. Germ line gain of function with SOS1 mutation in hereditary gingival fibromatosis. J Biol Chem 13;282(28):20245-55.
Choi SW, Ryu OH, Choi SJ, Song IS, Bleyer AJ, Hart TC. 2005. Mutant tamm-horsfall glycoprotein accumulation in endoplasmic reticulum induces apoptosis reversed by colchicine and sodium 4-phenylbutyrate. J Am Soc Nephrol 16(10):3006-14.
Hart TC, Hart PS, Gorry MC, Michalec MD, Ryu OH, Uygur C, Ozdemir D, Firatli S, Aren G, Firatli E. 2003. Novel ENAM mutation responsible for autosomal recessive amelogenesis imperfecta and localised enamel defects. J Med Genet 40(12):900-6.