Recognition

• Chenleng Cai, Ph.D., Schuman Award, University of California, San Diego (2004)
• Bruce D. Gelb, M.D., Society for Pediatric Research, E. Mead Johnson Award (2004)
• Kimihiko Oishi, M.D., Society for Pediatric Research, Fellow’s Basic Research Award (2004)
• Kimihiko Oishi, M.D., Eastern Society for Pediatric Research, Young Investigator Award (2005)
• Inkyong Kim, B.A., Associated Medical Schools of New York Annual Research Day Award (2006)

Publications

Gelb Research Team

Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, van der Burgt I, Palleschi A, Petrucci T, Sorcini M, Schoch C, Foa R, Emanuel PD, Gelb BD. Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease. Am J Hum Genet 2006, 78:279-290.

Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim I-K, Ying H, Weber U, Perkins L, Tartaglia M, Mlodzik M, Pick L, Gelb BD. Transgenic Drosophila models of Noonan syndrome-causing PTPN11 gain-of-function mutations. Hum Molec Genet 2006, 15:543-553.

Gelb BD. Marfan’s syndrome and related disorders- more tightly connected than we thought. N Engl J Med 2006, 355:841-844.

Gelb BD, Tartaglia M. Noonan syndrome and related disorders: Dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Molec Genet 2006, 15 Suppl:R220-226.

Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G, Dallapiccola, Gelb BD*, Tartaglia M*. Germline missense mutations affecting KRAS isoform B are associated with a severe Noonan syndrome phenotype.  Am J Hum Genet 2006, 79:129-135. *Denotes co-senior authors

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C, Vasta I, Gibson K, Curry CJ, Siguero JPL, Digilio MC, Zampino G, Dallapiccola B, Bar-Sagi D, Gelb BD. Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome. Nature Genet 2007, 39:75-79.

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P, López Siguero JP, Tenconi R, Selicorni A, Rossi C, Mazzanti L, Torrente I, Marino B, Digilio MC, Zampino G, Ackerman MJ, Dallapiccola B, Tartaglia M, Gelb BD. Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy. Nature Genet 2007, 39:1007-1012.

Cai Research Team

Cai CL, Liang X, Shi Y, Chu PH, Pfaff SL, Chen J, Evans S. Isl1 identifies a cardiac progenitor population that proliferates prior to differentiation and contributes a majority of cells to the heart. Developmental Cell 2003, 5: 877-889.

Cai CL, Zhou W, Yang Y, Bu L, Qyang Y, Zhang X, Rosenfeld MG, Chen J, Evans S. T-Box genes coordinate regional rates of proliferation and regional specification during cardiogenesis, Development 2005, 132:2475-2487

Laugwitz KL, Moretti A, Lam J, Gruber P, Chen Y, Woodard S, Lin L, Cai CL, Lu MM, Reth M, Platoshyn O, Yuan JX, Evans S, Chien KR. Postnatal isl1+ cardioblasts enter fully differentiated cardiomyocyte lineages. Nature 2005, 433:647- 653.

Yang L, Cai CL, Lin L, Qyang Y, Cogen A, Chung C, Monteiro RM, Mummery CL, Fishman GI, Evans S. Isl1-Cre reveals common BMP pathway in heart and limb development. Development 2006, 133:1575-1585.

Lin L, Bu L, Cai CL, Zhang X, Evans S. Isl1 is upstream of sonic hedgehog in a genetic cascade required for cardiac morphogenesis. Developmental Biology 2006, 295:756-763.