Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome

Autor:	Pannone, L, Bocchinfuso, G, Flex, E, Rossi, C, Baldassarre, G, Lissewski, C, Pantaleoni, F, Consoli, F, Lepri, F, Magliozzi, M, Anselmi, M, Delle Vigne, S, Sorge, G, Karaer, K, Cuturilo, G, Sartorio, A, Tinschert, S, Accadia, M, Digilio, M, Zampino, G, De Luca, A, Cave, H, Zenker, M, Gelb, B, Dallapiccola, B, Stella, L, Ferrero, G, Martinelli, S, Tartaglia, M
Jazyk:	angličtina
Rok vydání:	2017
Předmět:	Models Molecular PTPN11 mutations MAP Kinase Signaling System Noonan syndrome genotype-phenotype correlation analysis structural and functional studies Mutation Missense Protein Tyrosine Phosphatase Non-Receptor Type 11 src Homology Domains HEK293 Cells Protein Domains Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA Mutation Genetics Humans Genetics (clinical) Genetic Predisposition to Disease Settore CHIM/02 - Chimica Fisica Protein Binding
Popis:	Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphatase (SHP2), cause Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 missense changes affecting residues Leu
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::a0f47230cf3d8948029b468312880d12 http://hdl.handle.net/10807/102190 Zobrazit plný text záznamu