Search: WFRF:(Martinelli Simone) > (2010-2014) > Activating mutation...
Fältnamn | Indikatorer | Metadata |
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000 | 04957naa a2200889 4500 | |
001 | oai:DiVA.org:uu-223942 | |
003 | SwePub | |
008 | 140428s2014 | |||||||||||000 ||eng| | |
024 | 7 | a https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-2239422 URI |
024 | 7 | a https://doi.org/10.1093/hmg/ddu1482 DOI |
040 | a (SwePub)uu | |
041 | a engb eng | |
042 | 9 SwePub | |
072 | 7 | a ref2 swepub-contenttype |
072 | 7 | a art2 swepub-publicationtype |
100 | 1 | a Flex, Elisabetta4 aut |
245 | 1 0 | a Activating mutations in RRAS underlie a phenotype within the RASopathy spectrum and contribute to leukaemogenesis |
264 | c 2014-04-04 | |
264 | 1 | b Oxford University Press (OUP),c 2014 |
338 | a print2 rdacarrier | |
520 | a 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 report on two germline mutations (p.Gly39dup and p.Val55Met) in RRAS, a gene encoding a small monomeric GTPase controlling cell adhesion, spreading and migration, underlying a rare (2 subjects among 504 individuals analysed) and variable phenotype with features partially overlapping Noonan syndrome, the most common RASopathy. We also identified somatic RRAS mutations (p.Gly39dup and p.Gln87Leu) in 2 of 110 cases of non-syndromic juvenile myelomonocytic leukaemia, a childhood myeloproliferative/myelodysplastic disease caused by upregulated RAS signalling, defining an atypical form of this haematological disorder rapidly progressing to acute myeloid leukaemia. Two of the three identified mutations affected known oncogenic hotspots of RAS genes and conferred variably enhanced RRAS function and stimulus-dependent MAPK activation. Expression of an RRAS mutant homolog in Caenorhabditis elegans enhanced RAS signalling and engendered protruding vulva, a phenotype previously linked to the RASopathy-causing SHOC2(S2G) mutant. Overall, these findings provide evidence of a functional link between RRAS and MAPK signalling and reveal an unpredicted role of enhanced RRAS function in human disease. | |
650 | 7 | a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe |
650 | 7 | a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng |
650 | 7 | a NATURVETENSKAPx Biologix Biokemi och molekylärbiologi0 (SwePub)106022 hsv//swe |
650 | 7 | a NATURAL SCIENCESx Biological Sciencesx Biochemistry and Molecular Biology0 (SwePub)106022 hsv//eng |
700 | 1 | a Jaiswal, Mamta4 aut |
700 | 1 | a Pantaleoni, Francesca4 aut |
700 | 1 | a Martinelli, Simone4 aut |
700 | 1 | a Strullu, Marion4 aut |
700 | 1 | a Fansa, Eyad K4 aut |
700 | 1 | a Caye, Aurélie4 aut |
700 | 1 | a De Luca, Alessandro4 aut |
700 | 1 | a Lepri, Francesca4 aut |
700 | 1 | a Dvorsky, Radovan4 aut |
700 | 1 | a Pannone, Luca4 aut |
700 | 1 | a Paolacci, Stefano4 aut |
700 | 1 | a Zhang, Si-Cai4 aut |
700 | 1 | a Fodale, Valentina4 aut |
700 | 1 | a Bocchinfuso, Gianfranco4 aut |
700 | 1 | a Rossi, Cesare4 aut |
700 | 1 | a Burkitt-Wright, Emma M M4 aut |
700 | 1 | a Farrotti, Andrea4 aut |
700 | 1 | a Stellacci, Emilia4 aut |
700 | 1 | a Cecchetti, Serena4 aut |
700 | 1 | a Ferese, Rosangela4 aut |
700 | 1 | a Bottero, Lisabianca4 aut |
700 | 1 | a Castro, Silvana4 aut |
700 | 1 | a Fenneteau, Odile4 aut |
700 | 1 | a Brethon, Benoit4 aut |
700 | 1 | a Sanchez, Massimo4 aut |
700 | 1 | a Roberts, Amy E4 aut |
700 | 1 | a Yntema, Helger G4 aut |
700 | 1 | a Van Der Burgt, Ineke4 aut |
700 | 1 | a Cianci, Paola4 aut |
700 | 1 | a Bondeson, Marie-Louiseu Uppsala universitet,Medicinsk genetik,Bondeson/Anneren4 aut0 (Swepub:uu)malobond |
700 | 1 | a Cristina Digilio, Maria4 aut |
700 | 1 | a Zampino, Giuseppe4 aut |
700 | 1 | a Kerr, Bronwyn4 aut |
700 | 1 | a Aoki, Yoko4 aut |
700 | 1 | a Loh, Mignon L4 aut |
700 | 1 | a Palleschi, Antonio4 aut |
700 | 1 | a Di Schiavi, Elia4 aut |
700 | 1 | a Carè, Alessandra4 aut |
700 | 1 | a Selicorni, Angelo4 aut |
700 | 1 | a Dallapiccola, Bruno4 aut |
700 | 1 | a Cirstea, Ion C4 aut |
700 | 1 | a Stella, Lorenzo4 aut |
700 | 1 | a Zenker, Martin4 aut |
700 | 1 | a Gelb, Bruce D4 aut |
700 | 1 | a Cavé, Hélène4 aut |
700 | 1 | a Ahmadian, Mohammad R4 aut |
700 | 1 | a Tartaglia, Marco4 aut |
710 | 2 | a Uppsala universitetb Medicinsk genetik4 org |
773 | 0 | t Human Molecular Geneticsd : Oxford University Press (OUP)g 23:16, s. 4315-4327q 23:16<4315-4327x 0964-6906x 1460-2083 |
856 | 4 | u https://academic.oup.com/hmg/article-pdf/23/16/4315/13923502/ddu148.pdf |
856 | 4 8 | u https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-223942 |
856 | 4 8 | u https://doi.org/10.1093/hmg/ddu148 |
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