Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis

• Published in: Human molecular genetics Vol. 23; no. 16; pp. 4315 - 4327
• Main Authors: Flex, E., Jaiswal, M., Pantaleoni, F., Martinelli, S., Strullu, M., Fansa, E. K., Caye, A., De Luca, A., Lepri, F., Dvorsky, R., Pannone, L., Paolacci, S., Zhang, S.-C., Fodale, V., Bocchinfuso, G., Rossi, C., Burkitt-Wright, E. M. M., Farrotti, A., Stellacci, E., Cecchetti, S., Ferese, R., Bottero, L., Castro, S., Fenneteau, O., Brethon, B., Sanchez, M., Roberts, A. E., Yntema, H. G., Van Der Burgt, I., Cianci, P., Bondeson, M.-L., Cristina Digilio, M., Zampino, G., Kerr, B., Aoki, Y., Loh, M. L., Palleschi, A., Di Schiavi, E., Care, A., Selicorni, A., Dallapiccola, B., Cirstea, I. C., Stella, L., Zenker, M., Gelb, B. D., Cave, H., Ahmadian, M. R., Tartaglia, M.
• Format: Journal Article
• Language: English
• Published: England Oxford University Press 15.08.2014
• Subjects: Animals; Caenorhabditis elegans; Carcinogenesis - genetics; Cohort Studies; Extracellular Signal-Regulated MAP Kinases - metabolism; Humans; Leukemia, Myeloid, Acute - genetics; Leukemia, Myelomonocytic, Juvenile - genetics; MAP Kinase Kinase Kinases - metabolism; Mutation - physiology; Noonan Syndrome - genetics; Oncogene Protein v-akt - metabolism; Phenotype; ras Proteins - chemistry; ras Proteins - genetics; ras Proteins - metabolism; Signal Transduction - genetics

RASopathies, a family of disorders characterized by cardiac defects, defective growth, facial dysmorphism, variable cognitive deficits and predisposition to certain malignancies, are caused by constitutional dysregulation of RAS signalling predominantly through the RAF/MEK/ERK (MAPK) cascade. We rep...