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10.1681/ASN.2013080886 http://scihub22266oqcxt.onion/10.1681/ASN.2013080886 C4073436!4073436!24511134     free     free     free Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\24511134.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       J+Am+Soc+Nephrol 2014 ; 25 (7): 1408-14 Nephropedia Template TP {{tp|p=24511134|t=2014. Phenotypic Expansion of DGKE-Associated Diseases |pdf=|usr=}}{{24511134}} gab.com Text Phenotypic Expansion of DGKE-Associated Diseases JO: J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=24511134 #FOAvip Atypical hemolytic uremic syndrome (aHUS) is usually characterized by uncontrolled complement activation. The recent discovery of loss-of-function mutations in DGKE in patients with aHUS and normal complement levels challenged this observation. DGKE, encoding diacylglycerol kinase-?, has not been implicated in the complement cascade but hypothetically leads to a prothrombotic state. The discovery of this novel mechanism has potential implications for the treatment of infants with aHUS, who are increasingly treated with complement blocking agents. In this study, we used homozygosity mapping and whole-exome sequencing to identify a novel truncating mutation in DGKE (p.K101X) in a consanguineous family with patients affected by thrombotic microangiopathy characterized by significant serum complement activation and consumption of the complement fraction C3. Aggressive plasma infusion therapy controlled systemic symptoms and prevented renal failure, suggesting that this treatment can significantly affect the natural history of this aggressive disease. Our study expands the clinical phenotypes associated with mutations in DGKE and challenges the benefits of complement blockade treatment in such patients. Mechanistic studies of DGKE and aHUS are, therefore, essential to the design of appropriate therapeutic strategies in patients with DGKE mutations. Twit Text FOAVip Phenotypic Expansion of DGKE-Associated Diseases ????J Am Soc Nephrol http://www.kidney.de/pget.php?&tw=1&pmid=24511134 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=24511134 #FOAvip English Wikipedia <ref>{{Cite pmid|24511134}}</ref> Phenotypic Expansion of DGKE-Associated Diseases #MMPMID24511134 Westland R; Bodria M; Carrea A; Lata S; Scolari F; Fremeaux-Bacchi V; D?Agati VD; Lifton RP; Gharavi AG; Ghiggeri GM; Sanna-Cherchi S J Am Soc Nephrol 2014[Jul]; 25 (7): 1408-14 PMID24511134show ga Atypical hemolytic uremic syndrome (aHUS) is usually characterized by uncontrolled complement activation. The recent discovery of loss-of-function mutations in DGKE in patients with aHUS and normal complement levels challenged this observation. DGKE, encoding diacylglycerol kinase-?, has not been implicated in the complement cascade but hypothetically leads to a prothrombotic state. The discovery of this novel mechanism has potential implications for the treatment of infants with aHUS, who are increasingly treated with complement blocking agents. In this study, we used homozygosity mapping and whole-exome sequencing to identify a novel truncating mutation in DGKE (p.K101X) in a consanguineous family with patients affected by thrombotic microangiopathy characterized by significant serum complement activation and consumption of the complement fraction C3. Aggressive plasma infusion therapy controlled systemic symptoms and prevented renal failure, suggesting that this treatment can significantly affect the natural history of this aggressive disease. Our study expands the clinical phenotypes associated with mutations in DGKE and challenges the benefits of complement blockade treatment in such patients. Mechanistic studies of DGKE and aHUS are, therefore, essential to the design of appropriate therapeutic strategies in patients with DGKE mutations. äPhenotypic Expansion of DGKE-Associated Diseases (epmc).pdf DeepDyve Pubget Overpricing