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10.1017/S1462399408000902 http://scihub22266oqcxt.onion/10.1017/S1462399408000902 19063751!ä!19063751 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Expert+Rev+Mol+Med 2008 ; 10 (ä): e37 Nephropedia Template TP {{tp|p=19063751|t=2008. Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway |pdf=|usr=}}{{19063751}} gab.com Text Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway JO: Expert Rev Mol Med http://www.kidney.de/pget.php?&tw=1&pmid=19063751 #FOAvip A class of developmental disorders caused by dysregulation of the Ras-induced mitogen-activated protein kinase (MAPK) cascade (the Ras-MAPK pathway) has emerged. Three of these disorders - Noonan, Costello and cardio-facio-cutaneous syndromes - have overlapping phenotypic features characterised by distinctive facial dysmorphia, cardiac defects, musculoskeletal and cutaneous abnormalities, and neurocognitive delay. The germline mutations associated with these disorders are in genes that encode proteins of the Ras-MAPK pathway. In vitro studies have determined that the overwhelming majority of these mutations result in increased signal transduction down the pathway, but usually to a lesser degree than somatic mutations in the same genes that are associated with cancer. The Ras-MAPK pathway is essential in the regulation of the cell cycle, differentiation, growth and senescence, so it is not surprising that germline mutations that affect its function have profound effects on development. Here we review the clinical consequences of the known molecular lesions associated with Noonan syndrome, Costello syndrome and cardio-facio-cutaneous syndrome, and explore possible therapeutic modalities for treatment. Twit Text FOAVip Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway ????Expert Rev Mol Med http://www.kidney.de/pget.php?&tw=1&pmid=19063751 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=19063751 #FOAvip English Wikipedia <ref>{{Cite pmid|19063751}}</ref> Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation of the Ras-MAPK pathway #MMPMID19063751 Tidyman WE; Rauen KA Expert Rev Mol Med 2008[Dec]; 10 (ä): e37 PMID19063751show ga A class of developmental disorders caused by dysregulation of the Ras-induced mitogen-activated protein kinase (MAPK) cascade (the Ras-MAPK pathway) has emerged. Three of these disorders - Noonan, Costello and cardio-facio-cutaneous syndromes - have overlapping phenotypic features characterised by distinctive facial dysmorphia, cardiac defects, musculoskeletal and cutaneous abnormalities, and neurocognitive delay. The germline mutations associated with these disorders are in genes that encode proteins of the Ras-MAPK pathway. In vitro studies have determined that the overwhelming majority of these mutations result in increased signal transduction down the pathway, but usually to a lesser degree than somatic mutations in the same genes that are associated with cancer. The Ras-MAPK pathway is essential in the regulation of the cell cycle, differentiation, growth and senescence, so it is not surprising that germline mutations that affect its function have profound effects on development. Here we review the clinical consequences of the known molecular lesions associated with Noonan syndrome, Costello syndrome and cardio-facio-cutaneous syndrome, and explore possible therapeutic modalities for treatment. |*Genes, ras[MESH] |Abnormalities, Multiple/*genetics/metabolism/pathology[MESH] |Animals[MESH] |Craniofacial Abnormalities/*genetics/metabolism[MESH] |Heart Defects, Congenital/*genetics/metabolism[MESH] |Humans[MESH] |LEOPARD Syndrome/genetics[MESH] |MAP Kinase Signaling System[MESH] |Mitogen-Activated Protein Kinases/*genetics/metabolism[MESH] |Mutation[MESH] |Noonan Syndrome/*genetics/metabolism/pathology[MESH] |Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics/metabolism[MESH] |Proto-Oncogene Proteins B-raf/genetics/metabolism[MESH] |Proto-Oncogene Proteins c-raf/genetics/metabolism[MESH] |Proto-Oncogene Proteins p21(ras)/genetics/metabolism[MESH] |Proto-Oncogene Proteins/genetics/metabolism[MESH] |SOS1 Protein/genetics/metabolism[MESH] |Syndrome[MESH]Noonan, Costello and cardio-facio-cutaneous syndromes: dysregulation o(epmc).pdf DeepDyve Pubget Overpricing