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Page 1
Pathogenic PTPN11 variants involving the poly-glutamine Gln255 -Gln256 -Gln257 stretch highlight the relevance of helix B in SHP2's functional regulation.
Martinelli S, Pannone L, Lissewski C, Brinkmann J, Flex E, Schanze D, Calligari P, Anselmi M, Pantaleoni F, Canale VC, Radio FC, Ioannides A, Rahner N, Schanze I, Josifova D, Bocchinfuso G, Ryten M, Stella L, Tartaglia M, Zenker M. Martinelli S, et al. Among authors: flex e. Hum Mutat. 2020 Jun;41(6):1171-1182. doi: 10.1002/humu.24007. Epub 2020 Mar 11. Hum Mutat. 2020. PMID: 32112654
Activating PTPN11 mutations play a minor role in pediatric and adult solid tumors.
Martinelli S, Carta C, Flex E, Binni F, Cordisco EL, Moretti S, Puxeddu E, Tonacchera M, Pinchera A, McDowell HP, Dominici C, Rosolen A, Di Rocco C, Riccardi R, Celli P, Picardo M, Genuardi M, Grammatico P, Sorcini M, Tartaglia M. Martinelli S, et al. Among authors: flex e. Cancer Genet Cytogenet. 2006 Apr 15;166(2):124-9. doi: 10.1016/j.cancergencyto.2005.10.003. Cancer Genet Cytogenet. 2006. PMID: 16631468
Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.
Flex E, Petrangeli V, Stella L, Chiaretti S, Hornakova T, Knoops L, Ariola C, Fodale V, Clappier E, Paoloni F, Martinelli S, Fragale A, Sanchez M, Tavolaro S, Messina M, Cazzaniga G, Camera A, Pizzolo G, Tornesello A, Vignetti M, Battistini A, Cavé H, Gelb BD, Renauld JC, Biondi A, Constantinescu SN, Foà R, Tartaglia M. Flex E, et al. J Exp Med. 2008 Apr 14;205(4):751-8. doi: 10.1084/jem.20072182. Epub 2008 Mar 24. J Exp Med. 2008. PMID: 18362173 Free PMC article.
Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.
Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, Tartaglia M. Martinelli S, et al. Among authors: flex e. Hum Mol Genet. 2008 Jul 1;17(13):2018-29. doi: 10.1093/hmg/ddn099. Epub 2008 Mar 27. Hum Mol Genet. 2008. PMID: 18372317 Free PMC article.
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.
Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E, Lepri F, Bartholdi D, Kutsche K, Ferrero GB, Anichini C, Selicorni A, Rossi C, Tenconi R, Zenker M, Merlo D, Dallapiccola B, Iyengar R, Bazzicalupo P, Gelb BD, Tartaglia M. Cordeddu V, et al. Among authors: flex e. Nat Genet. 2009 Sep;41(9):1022-6. doi: 10.1038/ng.425. Epub 2009 Aug 16. Nat Genet. 2009. PMID: 19684605 Free PMC article.
Transcriptional hallmarks of Noonan syndrome and Noonan-like syndrome with loose anagen hair.
Ferrero GB, Picco G, Baldassarre G, Flex E, Isella C, Cantarella D, Corà D, Chiesa N, Crescenzio N, Timeus F, Merla G, Mazzanti L, Zampino G, Rossi C, Silengo M, Tartaglia M, Medico E. Ferrero GB, et al. Among authors: flex e. Hum Mutat. 2012 Apr;33(4):703-9. doi: 10.1002/humu.22026. Epub 2012 Feb 14. Hum Mutat. 2012. PMID: 22253195 Free PMC article.
Counteracting effects operating on Src homology 2 domain-containing protein-tyrosine phosphatase 2 (SHP2) function drive selection of the recurrent Y62D and Y63C substitutions in Noonan syndrome.
Martinelli S, Nardozza AP, Delle Vigne S, Sabetta G, Torreri P, Bocchinfuso G, Flex E, Venanzi S, Palleschi A, Gelb BD, Cesareni G, Stella L, Castagnoli L, Tartaglia M. Martinelli S, et al. Among authors: flex e. J Biol Chem. 2012 Aug 3;287(32):27066-77. doi: 10.1074/jbc.M112.350231. Epub 2012 Jun 18. J Biol Chem. 2012. PMID: 22711529 Free PMC article.
71 results