Article
Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis.
Human molecular genetics - 15 Aug 2014
Flex Elisabetta, Jaiswal Mamta, Pantaleoni Francesca, Martinelli Simone, Strullu Marion, Fansa Eyad K, Caye Aurélie, De Luca Alessandro, Lepri Francesca, Dvorsky Radovan, Pannone Luca, Paolacci Stefano, Zhang Si-Cai, Fodale Valentina, Bocchinfuso Gianfranco, Rossi Cesare, Burkitt-Wright Emma M M, Farrotti Andrea, Stellacci Emilia, Cecchetti Serena, Ferese Rosangela, Bottero Lisabianca, Castro Silvana, Fenneteau Odile, Brethon Benoît, Sanchez Massimo, Roberts Amy E, Yntema Helger G, Van Der Burgt Ineke, Cianci Paola, Bondeson Marie-Louise, Cristina Digilio Maria, Zampino Giuseppe, Kerr Bronwyn, Aoki Yoko, Loh Mignon L, Palleschi Antonio, Di Schiavi Elia, Carè Alessandra, Selicorni Angelo, Dallapiccola Bruno, Cirstea Ion C, Stella Lorenzo, Zenker Martin, Gelb Bruce D, Cavé Hélène, Ahmadian Mohammad R, Tartaglia Marco
Abstract excerpt
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...
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