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10.1242/dmm.020339 http://scihub22266oqcxt.onion/10.1242/dmm.020339 C4527292!4527292 !26203125     free     free     free 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 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\26203125 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Dis+Model+Mech 2015 ; 8 (8 ): 769-82 Nephropedia Template TP {{tp|p=26203125 |t=2015. RASopathies: unraveling mechanisms with animal models |pdf=|usr=}}{{26203125 }} gab.com Text RASopathies: unraveling mechanisms with animal models JO: Dis Model Mech http://www.kidney.de/pget.php?&tw=1&pmid=26203125 #FOAvip RASopathies are developmental disorders caused by germline mutations in the Ras-MAPK pathway, and are characterized by a broad spectrum of functional and morphological abnormalities. The high incidence of these disorders (?1/1000 births) motivates the development of systematic approaches for their efficient diagnosis and potential treatment. Recent advances in genome sequencing have greatly facilitated the genotyping and discovery of mutations in affected individuals, but establishing the causal relationships between molecules and disease phenotypes is non-trivial and presents both technical and conceptual challenges. Here, we discuss how these challenges could be addressed using genetically modified model organisms that have been instrumental in delineating the Ras-MAPK pathway and its roles during development. Focusing on studies in mice, zebrafish and Drosophila, we provide an up-to-date review of animal models of RASopathies at the molecular and functional level. We also discuss how increasingly sophisticated techniques of genetic engineering can be used to rigorously connect changes in specific components of the Ras-MAPK pathway with observed functional and morphological phenotypes. Establishing these connections is essential for advancing our understanding of RASopathies and for devising rational strategies for their management and treatment. Twit Text FOAVip RASopathies: unraveling mechanisms with animal models ????Dis Model Mech http://www.kidney.de/pget.php?&tw=1&pmid=26203125 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26203125 #FOAvip English Wikipedia <ref>{{Cite pmid|26203125 }}</ref> RASopathies: unraveling mechanisms with animal models #MMPMID26203125 Jindal GA ; Goyal Y ; Burdine RD ; Rauen KA ; Shvartsman SY Dis Model Mech 2015[Aug]; 8 (8 ): 769-82 PMID26203125 show ga RASopathies are developmental disorders caused by germline mutations in the Ras-MAPK pathway, and are characterized by a broad spectrum of functional and morphological abnormalities. The high incidence of these disorders (?1/1000 births) motivates the development of systematic approaches for their efficient diagnosis and potential treatment. Recent advances in genome sequencing have greatly facilitated the genotyping and discovery of mutations in affected individuals, but establishing the causal relationships between molecules and disease phenotypes is non-trivial and presents both technical and conceptual challenges. Here, we discuss how these challenges could be addressed using genetically modified model organisms that have been instrumental in delineating the Ras-MAPK pathway and its roles during development. Focusing on studies in mice, zebrafish and Drosophila, we provide an up-to-date review of animal models of RASopathies at the molecular and functional level. We also discuss how increasingly sophisticated techniques of genetic engineering can be used to rigorously connect changes in specific components of the Ras-MAPK pathway with observed functional and morphological phenotypes. Establishing these connections is essential for advancing our understanding of RASopathies and for devising rational strategies for their management and treatment. |*Disease Models, Animal [MESH] |Animals [MESH] |Genetic Engineering [MESH] |Humans [MESH] |MAP Kinase Signaling System [MESH] |Models, Biological [MESH] |Mutation/genetics [MESH]RASopathies: unraveling mechanisms with animal models (epmc).pdf DeepDyve Pubget Overpricing