Use my Search Websuite to scan PubMed, PMCentral, Journal Hosts and Journal Archives, FullText. Kick-your-searchterm to multiple Engines kick-your-query now !>

A dictionary by aggregated review articles of nephrology, medicine and the life sciences Your one-stop-run pathway from word to the immediate pdf of peer-reviewed on-topic knowledge.

10.1681/ASN.2015101189 http://scihub22266oqcxt.onion/10.1681/ASN.2015101189 C5373440!5373440!27974406     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 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       J+Am+Soc+Nephrol 2017 ; 28 (4): 1084-91 Nephropedia Template TP {{tp|p=27974406|t=2017. Thrombotic Microangiopathy in Inverted Formin 2?Mediated Renal Disease |pdf=|usr=}}{{27974406}} gab.com Text Thrombotic Microangiopathy in Inverted Formin 2 Mediated Renal Disease JO: J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=27974406 #FOAvip The demonstration of impaired C regulation in the thrombotic microangiopathy (TMA) atypical hemolytic uremic syndrome (aHUS) resulted in the successful introduction of the C inhibitor eculizumab into clinical practice. C abnormalities account for approximately 50% of aHUS cases; however, mutations in the non-C gene diacylglycerol kinase-? have been described recently in individuals not responsive to eculizumab. We report here a family in which the proposita presented with aHUS but did not respond to eculizumab. Her mother had previously presented with a post?renal transplant TMA. Both the proposita and her mother also had Charcot?Marie?Tooth disease. Using whole-exome sequencing, we identified a mutation in the inverted formin 2 gene (INF2) in the mutational hotspot for FSGS. Subsequent analysis of the Newcastle aHUS cohort identified another family with a functionally-significant mutation in INF2. In this family, renal transplantation was associated with post-transplant TMA. All individuals with INF2 mutations presenting with a TMA also had aHUS risk haplotypes, potentially accounting for the genetic pleiotropy. Identifying individuals with TMAs who may not respond to eculizumab will avoid prolonged exposure of such individuals to the infectious complications of terminal pathway C blockade. Twit Text FOAVip Thrombotic Microangiopathy in Inverted Formin 2 Mediated Renal Disease ????J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=27974406 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27974406 #FOAvip English Wikipedia <ref>{{Cite pmid|27974406}}</ref> Thrombotic Microangiopathy in Inverted Formin 2?Mediated Renal Disease #MMPMID27974406 Challis RC; Ring T; Xu Y; Wong EK; Flossmann O; Roberts IS; Ahmed S; Wetherall M; Salkus G; Brocklebank V; Fester J; Strain L; Wilson V; Wood KM; Marchbank KJ; Santibanez-Koref M; Goodship TH; Kavanagh D J Am Soc Nephrol 2017[Apr]; 28 (4): 1084-91 PMID27974406show ga The demonstration of impaired C regulation in the thrombotic microangiopathy (TMA) atypical hemolytic uremic syndrome (aHUS) resulted in the successful introduction of the C inhibitor eculizumab into clinical practice. C abnormalities account for approximately 50% of aHUS cases; however, mutations in the non-C gene diacylglycerol kinase-? have been described recently in individuals not responsive to eculizumab. We report here a family in which the proposita presented with aHUS but did not respond to eculizumab. Her mother had previously presented with a post?renal transplant TMA. Both the proposita and her mother also had Charcot?Marie?Tooth disease. Using whole-exome sequencing, we identified a mutation in the inverted formin 2 gene (INF2) in the mutational hotspot for FSGS. Subsequent analysis of the Newcastle aHUS cohort identified another family with a functionally-significant mutation in INF2. In this family, renal transplantation was associated with post-transplant TMA. All individuals with INF2 mutations presenting with a TMA also had aHUS risk haplotypes, potentially accounting for the genetic pleiotropy. Identifying individuals with TMAs who may not respond to eculizumab will avoid prolonged exposure of such individuals to the infectious complications of terminal pathway C blockade. äThrombotic Microangiopathy in Inverted Formin 2?Mediated Renal Disease(epmc).pdf DeepDyve Pubget Overpricing