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10.1111/cge.12608 http://scihub22266oqcxt.onion/10.1111/cge.12608 C4760689!4760689 !25959749     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=25959749 &cmd=llinks): Failed to open stream: HTTP request failed! 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Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype |pdf=|usr=}}{{25959749 }} gab.com Text Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype JO: Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=25959749 #FOAvip RASopathies are a clinically heterogeneous group of conditions caused by mutations in 1 of 16 proteins in the RAS-mitogen activated protein kinase (RAS-MAPK) pathway. Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome. Here we provide additional functional evidence for a causal role of RIT1 mutations and expand the associated phenotypic spectrum. We identified two de novo missense variants p.Met90Ile and p.Ala57Gly. Both variants resulted in increased MEK-ERK signaling compared to wild-type, underscoring gain-of-function as the primary functional mechanism. Introduction of p.Met90Ile and p.Ala57Gly into zebrafish embryos reproduced not only aspects of the human phenotype but also revealed abnormalities of eye development, emphasizing the importance of RIT1 for spatial and temporal organization of the growing organism. In addition, we observed severe lymphedema of the lower extremity and genitalia in one patient. We provide additional evidence for a causal relationship between pathogenic mutations in RIT1, increased RAS-MAPK/MEK-ERK signaling and the clinical phenotype. The mutant RIT1 protein may possess reduced GTPase activity or a diminished ability to interact with cellular GTPase activating proteins; however the precise mechanism remains unknown. The phenotypic spectrum is likely to expand and includes lymphedema of the lower extremities in addition to nuchal hygroma. Twit Text FOAVip Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype ????Clin Genet http://www.kidney.de/pget.php?&tw=1&pmid=25959749 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=25959749 #FOAvip English Wikipedia <ref>{{Cite pmid|25959749 }}</ref> Mutations in RIT1 cause Noonan syndrome - additional functional evidence and expanding the clinical phenotype #MMPMID25959749 Koenighofer M ; Hung CY ; McCauley JL ; Dallman J ; Back EJ ; Mihalek I ; Gripp KW ; Sol-Church K ; Rusconi P ; Zhang Z ; Shi GX ; Andres DA ; Bodamer OA Clin Genet 2016[Mar]; 89 (3 ): 359-66 PMID25959749 show ga RASopathies are a clinically heterogeneous group of conditions caused by mutations in 1 of 16 proteins in the RAS-mitogen activated protein kinase (RAS-MAPK) pathway. Recently, mutations in RIT1 were identified as a novel cause for Noonan syndrome. Here we provide additional functional evidence for a causal role of RIT1 mutations and expand the associated phenotypic spectrum. We identified two de novo missense variants p.Met90Ile and p.Ala57Gly. Both variants resulted in increased MEK-ERK signaling compared to wild-type, underscoring gain-of-function as the primary functional mechanism. Introduction of p.Met90Ile and p.Ala57Gly into zebrafish embryos reproduced not only aspects of the human phenotype but also revealed abnormalities of eye development, emphasizing the importance of RIT1 for spatial and temporal organization of the growing organism. In addition, we observed severe lymphedema of the lower extremity and genitalia in one patient. We provide additional evidence for a causal relationship between pathogenic mutations in RIT1, increased RAS-MAPK/MEK-ERK signaling and the clinical phenotype. The mutant RIT1 protein may possess reduced GTPase activity or a diminished ability to interact with cellular GTPase activating proteins; however the precise mechanism remains unknown. The phenotypic spectrum is likely to expand and includes lymphedema of the lower extremities in addition to nuchal hygroma. |*MAP Kinase Signaling System [MESH] |*Mutation, Missense [MESH] |Adolescent [MESH] |Animals [MESH] |Animals, Genetically Modified [MESH] |Child [MESH] |Child, Preschool [MESH] |Disease Models, Animal [MESH] |Eye Abnormalities/genetics [MESH] |Female [MESH] |Humans [MESH] |Infant [MESH] |Infant, Newborn [MESH] |Lower Extremity [MESH] |Lymphedema/genetics [MESH] |Male [MESH] |Noonan Syndrome/genetics/*metabolism [MESH] |Protein Conformation [MESH] |Zebrafish/genetics [MESH]Mutations in RIT1 cause Noonan syndrome - additional functional eviden(epmc).pdf DeepDyve Pubget Overpricing