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10.1126/science.1124642 http://scihub22266oqcxt.onion/10.1126/science.1124642 16439621!ä!16439621 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Science 2006 ; 311 (5765): 1287-90 Nephropedia Template TP {{tp|p=16439621|t=2006. Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome |pdf=|usr=}}{{16439621}} gab.com Text Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome JO: Science http://www.kidney.de/pget.php?&tw=1&pmid=16439621 #FOAvip Cardio-facio-cutaneous (CFC) syndrome is a sporadic developmental disorder involving characteristic craniofacial features, cardiac defects, ectodermal abnormalities, and developmental delay. We demonstrate that heterogeneous de novo missense mutations in three genes within the mitogen-activated protein kinase (MAPK) pathway cause CFC syndrome. The majority of cases (18 out of 23) are caused by mutations in BRAF, a gene frequently mutated in cancer. Of the 11 mutations identified, two result in amino acid substitutions that occur in tumors, but most are unique and suggest previously unknown mechanisms of B-Raf activation. Furthermore, three of five individuals without BRAF mutations had missense mutations in either MEK1 or MEK2, downstream effectors of B-Raf. Our findings highlight the involvement of the MAPK pathway in human development and will provide a molecular diagnosis of CFC syndrome. Twit Text FOAVip Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome ????Science http://www.kidney.de/pget.php?&tw=1&pmid=16439621 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=16439621 #FOAvip English Wikipedia <ref>{{Cite pmid|16439621}}</ref> Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome #MMPMID16439621 Rodriguez-Viciana P; Tetsu O; Tidyman WE; Estep AL; Conger BA; Cruz MS; McCormick F; Rauen KA Science 2006[Mar]; 311 (5765): 1287-90 PMID16439621show ga Cardio-facio-cutaneous (CFC) syndrome is a sporadic developmental disorder involving characteristic craniofacial features, cardiac defects, ectodermal abnormalities, and developmental delay. We demonstrate that heterogeneous de novo missense mutations in three genes within the mitogen-activated protein kinase (MAPK) pathway cause CFC syndrome. The majority of cases (18 out of 23) are caused by mutations in BRAF, a gene frequently mutated in cancer. Of the 11 mutations identified, two result in amino acid substitutions that occur in tumors, but most are unique and suggest previously unknown mechanisms of B-Raf activation. Furthermore, three of five individuals without BRAF mutations had missense mutations in either MEK1 or MEK2, downstream effectors of B-Raf. Our findings highlight the involvement of the MAPK pathway in human development and will provide a molecular diagnosis of CFC syndrome. |*Germ-Line Mutation[MESH] |Abnormalities, Multiple/*genetics[MESH] |Adolescent[MESH] |Adult[MESH] |Amino Acid Substitution[MESH] |Child[MESH] |Child, Preschool[MESH] |Craniofacial Abnormalities/genetics[MESH] |Extracellular Signal-Regulated MAP Kinases/metabolism[MESH] |Female[MESH] |Growth Disorders/genetics[MESH] |Heart Defects, Congenital/genetics[MESH] |Humans[MESH] |Infant[MESH] |MAP Kinase Kinase 1/genetics[MESH] |MAP Kinase Kinase 2/genetics[MESH] |MAP Kinase Kinase Kinases/metabolism[MESH] |MAP Kinase Signaling System[MESH] |Male[MESH] |Mitogen-Activated Protein Kinases/genetics/*metabolism[MESH] |Mutation, Missense[MESH] |Phosphorylation[MESH] |Proto-Oncogene Proteins B-raf/genetics[MESH] |Skin Abnormalities/genetics[MESH] |Syndrome[MESH]Germline mutations in genes within the MAPK pathway cause cardio-facio(epmc).pdf DeepDyve Pubget Overpricing