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10.1159/000243782 http://scihub22266oqcxt.onion/10.1159/000243782 20029240!ä!20029240 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       Horm+Res 2009 ; 72 Suppl 2 (ä): 57-63 Nephropedia Template TP {{tp|p=20029240|t=2009. Genetic and pathogenetic aspects of Noonan syndrome and related disorders |pdf=|usr=}}{{20029240}} gab.com Text Genetic and pathogenetic aspects of Noonan syndrome and related disorders JO: Horm Res http://www.kidney.de/pget.php?&tw=1&pmid=20029240 #FOAvip Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of congenital heart defects, and a similar pattern of craniofacial anomalies. It is now known that all these disorders are caused by mutations in components of the RAS-MAPK signaling pathway. This pathway was previously known for its involvement in tumorigenesis. This article reviews the current knowledge on underlying genetic alterations and possible pathogenetic mechanisms responsible for NS and related disorders. It discusses the relationship between a group of developmental disorders and oncogenes. Potential future treatment prospects are based on the possibility of inhibiting RAS-MAPK signaling by pharmaceuticals. Twit Text FOAVip Genetic and pathogenetic aspects of Noonan syndrome and related disorders ????Horm Res http://www.kidney.de/pget.php?&tw=1&pmid=20029240 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20029240 #FOAvip English Wikipedia <ref>{{Cite pmid|20029240}}</ref> Genetic and pathogenetic aspects of Noonan syndrome and related disorders #MMPMID20029240 Zenker M Horm Res 2009[Dec]; 72 Suppl 2 (ä): 57-63 PMID20029240show ga Noonan syndrome (NS) and the clinically overlapping disorders cardio-facio-cutaneous syndrome, LEOPARD syndrome, Costello syndrome and Neurofibromatosis-Noonan syndrome share the clinical features of short stature, the same spectrum of congenital heart defects, and a similar pattern of craniofacial anomalies. It is now known that all these disorders are caused by mutations in components of the RAS-MAPK signaling pathway. This pathway was previously known for its involvement in tumorigenesis. This article reviews the current knowledge on underlying genetic alterations and possible pathogenetic mechanisms responsible for NS and related disorders. It discusses the relationship between a group of developmental disorders and oncogenes. Potential future treatment prospects are based on the possibility of inhibiting RAS-MAPK signaling by pharmaceuticals. |Body Height[MESH] |Costello Syndrome/genetics/physiopathology[MESH] |Female[MESH] |Growth Disorders/genetics[MESH] |Heart Defects, Congenital/genetics[MESH] |Humans[MESH] |LEOPARD Syndrome/genetics/physiopathology[MESH] |Male[MESH] |Mitogen-Activated Protein Kinases/genetics[MESH] |Mutation[MESH] |Neurofibromatoses/genetics/physiopathology[MESH] |Noonan Syndrome/*genetics/*physiopathology[MESH] |Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics[MESH] |Proto-Oncogene Proteins B-raf/genetics[MESH] |Proto-Oncogene Proteins p21(ras)/genetics[MESH] |SOS1 Protein/genetics[MESH]Genetic and pathogenetic aspects of Noonan syndrome and related disord(epmc).pdf DeepDyve Pubget Overpricing