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10.1186/s13104-015-1166-0 http://scihub22266oqcxt.onion/10.1186/s13104-015-1166-0 C4467638!4467638!26055999     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       BMC+Res+Notes 2015 ; 8 (ä): ä Nephropedia Template TP {{tp|p=26055999|t=2015. PCSK5 mutation in a patient with the VACTERL association |pdf=|usr=}}{{26055999}} gab.com Text PCSK5 mutation in a patient with the VACTERL association JO: BMC Res Notes http://www.kidney.de/pget.php?&tw=1&pmid=26055999 #FOAvip Background: The VACTERL association is a typically sporadic, non-random collection of congenital anomalies that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal anomalies, and limb abnormalities. Although several chromosomal aberrations and gene muta tions have been reported as disease-causative, these findings have been sparsely replicated to date. Case presentation: In the present study, whole exome sequencing of a case with the VACTERL association uncovered a novel frameshift mutation in the PCSK5 gene, which has been reported as one of the causative genes for the VACTERL association. Although this mutation appears potentially pathogenic in its functional aspects, it was also carried by the healthy father. Furthermore, a database survey revealed several other deleterious variants in the PCSK5 gene in the general population. Conclusions: Further studies are necessary to clarify the etiological role of the PCSK5 mutation in the VACTERL association. Electronic supplementary material: The online version of this article (doi:10.1186/s13104-015-1166-0) contains supplementary material, which is available to authorized users. Twit Text FOAVip PCSK5 mutation in a patient with the VACTERL association ????BMC Res Notes http://www.kidney.de/pget.php?&tw=1&pmid=26055999 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26055999 #FOAvip English Wikipedia <ref>{{Cite pmid|26055999}}</ref> PCSK5 mutation in a patient with the VACTERL association #MMPMID26055999 Nakamura Y; Kikugawa S; Seki S; Takahata M; Iwasaki N; Terai H; Matsubara M; Fujioka F; Inagaki H; Kobayashi T; Kimura T; Kurahashi H; Kato H BMC Res Notes 2015[]; 8 (ä): ä PMID26055999show ga Background: The VACTERL association is a typically sporadic, non-random collection of congenital anomalies that includes vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula with esophageal atresia, renal anomalies, and limb abnormalities. Although several chromosomal aberrations and gene muta tions have been reported as disease-causative, these findings have been sparsely replicated to date. Case presentation: In the present study, whole exome sequencing of a case with the VACTERL association uncovered a novel frameshift mutation in the PCSK5 gene, which has been reported as one of the causative genes for the VACTERL association. Although this mutation appears potentially pathogenic in its functional aspects, it was also carried by the healthy father. Furthermore, a database survey revealed several other deleterious variants in the PCSK5 gene in the general population. Conclusions: Further studies are necessary to clarify the etiological role of the PCSK5 mutation in the VACTERL association. Electronic supplementary material: The online version of this article (doi:10.1186/s13104-015-1166-0) contains supplementary material, which is available to authorized users. äPCSK5 mutation in a patient with the VACTERL association (epmc).pdf DeepDyve Pubget Overpricing