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10.1002/ajmg.a.33342 http://scihub22266oqcxt.onion/10.1002/ajmg.a.33342 C4180666!4180666!20358587     free     free     free Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 225.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 259.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 259.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 259.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 259.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Med+Genet+A 2010 ; ä (4): 807-14 Nephropedia Template TP {{tp|p=20358587|t=2010. Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations |pdf=|usr=}}{{20358587}} gab.com Text Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations JO: Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=20358587 #FOAvip Cardio-facio-cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen-activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF, MEK1 or MEK2. CFC is a rare multiple congenital anomaly disorder in which individuals have characteristic dysmorphic features, cardiac defects, ectodermal anomalies and developmental delay. We report a 7 ½ month-old boy with a clinical diagnosis of CFC. Bidirectional sequence analysis of MEK2 revealed a novel c.383C?A transition in exon 3 resulting in a nonsynonymous missense substitution, p.P128Q. Other family members, including the proband?s mother and half-sibling, displayed phenotypic features of CFC and were also screened for the MEK2 mutation identified in the proband. SIFT (Sorting Intolerant From Tolerant) analysis determined the novel MEK2 p.P128Q to be deleterious. To corroborate the functional alteration of the novel mutant protein, transient transfection of 293T cells with subsequent Western analysis was used to demonstrate increased kinase activity, as measured by ERK phosphorylation. This first reported case of a vertically transmitted functional CFC MEK mutation further expands our understanding of germline mutations within the Ras/MAPK pathway. Twit Text FOAVip Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations ????Am J Med Genet A http://www.kidney.de/pget.php?&tw=1&pmid=20358587 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=20358587 #FOAvip English Wikipedia <ref>{{Cite pmid|20358587}}</ref> Molecular and functional analysis of a novel MEK2 mutation in cardio-facio-cutaneous syndrome: Transmission through four generations #MMPMID20358587 Rauen KA; Tidyman WE; Estep AL; Sampath S; Peltier HM; Bale SJ; Lacassie Y Am J Med Genet A 2010[Apr]; ä (4): 807-14 PMID20358587show ga Cardio-facio-cutaneous (CFC) syndrome is one of the RASopathies and is caused by alteration of activity through the Ras/mitogen-activated protein kinase (MAPK) pathway due to heterozygous de novo mutations in protein kinases BRAF, MEK1 or MEK2. CFC is a rare multiple congenital anomaly disorder in which individuals have characteristic dysmorphic features, cardiac defects, ectodermal anomalies and developmental delay. We report a 7 ½ month-old boy with a clinical diagnosis of CFC. Bidirectional sequence analysis of MEK2 revealed a novel c.383C?A transition in exon 3 resulting in a nonsynonymous missense substitution, p.P128Q. Other family members, including the proband?s mother and half-sibling, displayed phenotypic features of CFC and were also screened for the MEK2 mutation identified in the proband. SIFT (Sorting Intolerant From Tolerant) analysis determined the novel MEK2 p.P128Q to be deleterious. To corroborate the functional alteration of the novel mutant protein, transient transfection of 293T cells with subsequent Western analysis was used to demonstrate increased kinase activity, as measured by ERK phosphorylation. This first reported case of a vertically transmitted functional CFC MEK mutation further expands our understanding of germline mutations within the Ras/MAPK pathway. äMolecular and functional analysis of a novel MEK2 mutation in cardio-f(epmc).pdf DeepDyve Pubget Overpricing