SwePub
Sök i LIBRIS databas

  Extended search

onr:"swepub:oai:DiVA.org:uu-223942"
 

Search: onr:"swepub:oai:DiVA.org:uu-223942" > Activating mutation...

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

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

Flex, Elisabetta (author)
Jaiswal, Mamta (author)
Pantaleoni, Francesca (author)
show more...
Martinelli, Simone (author)
Strullu, Marion (author)
Fansa, Eyad K (author)
Caye, Aurélie (author)
De Luca, Alessandro (author)
Lepri, Francesca (author)
Dvorsky, Radovan (author)
Pannone, Luca (author)
Paolacci, Stefano (author)
Zhang, Si-Cai (author)
Fodale, Valentina (author)
Bocchinfuso, Gianfranco (author)
Rossi, Cesare (author)
Burkitt-Wright, Emma M M (author)
Farrotti, Andrea (author)
Stellacci, Emilia (author)
Cecchetti, Serena (author)
Ferese, Rosangela (author)
Bottero, Lisabianca (author)
Castro, Silvana (author)
Fenneteau, Odile (author)
Brethon, Benoit (author)
Sanchez, Massimo (author)
Roberts, Amy E (author)
Yntema, Helger G (author)
Van Der Burgt, Ineke (author)
Cianci, Paola (author)
Bondeson, Marie-Louise (author)
Uppsala universitet,Medicinsk genetik,Bondeson/Anneren
Cristina Digilio, Maria (author)
Zampino, Giuseppe (author)
Kerr, Bronwyn (author)
Aoki, Yoko (author)
Loh, Mignon L (author)
Palleschi, Antonio (author)
Di Schiavi, Elia (author)
Carè, Alessandra (author)
Selicorni, Angelo (author)
Dallapiccola, Bruno (author)
Cirstea, Ion C (author)
Stella, Lorenzo (author)
Zenker, Martin (author)
Gelb, Bruce D (author)
Cavé, Hélène (author)
Ahmadian, Mohammad R (author)
Tartaglia, Marco (author)
show less...
 (creator_code:org_t)
2014-04-04
2014
English.
In: Human Molecular Genetics. - : Oxford University Press (OUP). - 0964-6906 .- 1460-2083. ; 23:16, s. 4315-4327
Related links:
https://academic.oup...
show more...
https://urn.kb.se/re...
https://doi.org/10.1...
show less...
  • Journal article (peer-reviewed)
Abstract Subject headings
Close  
  • 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.

Subject headings

MEDICIN OCH HÄLSOVETENSKAP  -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
MEDICAL AND HEALTH SCIENCES  -- Basic Medicine -- Medical Genetics (hsv//eng)
NATURVETENSKAP  -- Biologi -- Biokemi och molekylärbiologi (hsv//swe)
NATURAL SCIENCES  -- Biological Sciences -- Biochemistry and Molecular Biology (hsv//eng)

Publication and Content Type

ref (subject category)
art (subject category)

Find in a library

To the university's database

  • 1 of 1
  • Previous record
  • Next record
  •    To hitlist

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view