Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying
Noonan Syndrome
期刊名称： Human Mutation
诗词故事
作者： Pannone, Luca,Bocchinfuso, Gianfranco,Flex, Elisabetta,Rossi,
Cesare,Baldassarre, Giuppina,Liswski, Christina,Pantaleoni, Francesca,Consoli, Federica,Lepri, Francesca,Magliozzi, Monia,Anlmi, Massimiliano,Delle Vigne, Silvia,Sorge, Giovanni,Karaer, Kadri,Cuturilo, Goran,Sartorio, Alessandro,Tinschert, Sigrid,Accadia, Maria,Digilio, Maria C.,Zampino, Giuppe,De Luca,
Alessandro,Cavé, Hélène,Zenker, Martin,Gelb, Bruce D.,Dallapiccola, Bruno,Stella, Lorenzo,Ferrero, Giovanni B.,Martinelli, Simone,Tartaglia, Marco
六合八法拳
年份： 2017年
期号： 第4期
工商管理实践报告关键词： PTPN11 mutations;Noonan syndrome;structural and functional
不要对他说好工作studies;genotype‐phenotype correlation analysis王维的竹里馆
重阳节手抄报内容
摘要：Germline mutations in PTPN11, the gene encoding the Src-homology 2 (SH2) domain-containing protein tyrosine phosphata (SHP2), cau Noonan syndrome (NS), a relatively common, clinically variable, multisystem disorder. Here, we report on the identification of five different PTPN11 misn changes affecting residues Leu(261) , Leu(262) and Arg(265) in 16 unrelated individuals with clinical diagnosis of NS or with features suggestive for this disorder, specifying a novel dia-causing mutation cluster. Expression of the mutant proteins in HEK293T cells documented their activating role on MAPK signaling. Structural data predicted a gain-of-function role of substitutions at residues Leu(262) and Arg(265) exerted by disruption of the N-SH2/PTP autoinhibitory interaction. Molecular dynamics simulations suggested a more complex 跨界思维
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