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10.1038/ng.3459 http://scihub22266oqcxt.onion/10.1038/ng.3459 C4777523!4777523!26642243     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 267.2 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\26642243.jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Nat+Genet 2016 ; 48 (1): 67-73 Nephropedia Template TP {{tp|p=26642243|t=2016. Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome |pdf=|usr=}}{{26642243}} gab.com Text Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome JO: Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=26642243 #FOAvip Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity1. Herein we describe a new syndrome caused by high penetrance heterozygous germline mutations in the NF?B regulatory protein TNFAIP3 (A20) in six unrelated families with early onset systemic inflammation. The syndrome resembles Behçet?s disease (BD), which is typically considered a polygenic disorder with onset in early adulthood2. A20 is a potent inhibitor of the NF?B signaling pathway3. TNFAIP3 mutant truncated proteins are likely to act by haploinsufficiency since they do not exert a dominant-negative effect in overexpression experiments. Patients? cells show increased degradation of I?B? and nuclear translocation of NF?B p65, and increased expression of NF?B-mediated proinflammatory cytokines. A20 restricts NF?B signals via deubiquitinating (DUB) activity. In cells expressing the mutant A20 protein, there is defective removal of K63-linked ubiquitin from TRAF6, NEMO, and RIP1 after TNF stimulation. NF?B-dependent pro-inflammatory cytokines are potential therapeutic targets for these patients. Twit Text FOAVip Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome ????Nat Genet http://www.kidney.de/pget.php?&tw=1&pmid=26642243 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=26642243 #FOAvip English Wikipedia <ref>{{Cite pmid|26642243}}</ref> Loss-of-function mutations in TNFAIP3 leading to A20 haploinsufficiency cause an early onset autoinflammatory syndrome #MMPMID26642243 Zhou Q; Wang H; Schwartz DM; Stoffels M; Park YH; Zhang Y; Yang D; Demirkaya E; Takeuchi M; Tsai WL; Lyons JJ; Yu X; Ouyang C; Chen C; Chin DT; Zaal K; Chandrasekharappa SC; Hanson EP; Yu Z; Mullikin JC; Hasni SA; Wertz I; Ombrello AK; Stone DL; Hoffmann P; Jones A; Barham BK; Leavis HL; van Royen-Kerkof A; Sibley C; Batu ED; Gül A; Siegel RM; Boehm M; Milner JD; Ozen S; Gadina M; Chae J; Laxer RM; Kastner DL; Aksentijevich I Nat Genet 2016[Jan]; 48 (1): 67-73 PMID26642243show ga Systemic autoinflammatory diseases are driven by abnormal activation of innate immunity1. Herein we describe a new syndrome caused by high penetrance heterozygous germline mutations in the NF?B regulatory protein TNFAIP3 (A20) in six unrelated families with early onset systemic inflammation. The syndrome resembles Behçet?s disease (BD), which is typically considered a polygenic disorder with onset in early adulthood2. A20 is a potent inhibitor of the NF?B signaling pathway3. TNFAIP3 mutant truncated proteins are likely to act by haploinsufficiency since they do not exert a dominant-negative effect in overexpression experiments. Patients? cells show increased degradation of I?B? and nuclear translocation of NF?B p65, and increased expression of NF?B-mediated proinflammatory cytokines. A20 restricts NF?B signals via deubiquitinating (DUB) activity. In cells expressing the mutant A20 protein, there is defective removal of K63-linked ubiquitin from TRAF6, NEMO, and RIP1 after TNF stimulation. NF?B-dependent pro-inflammatory cytokines are potential therapeutic targets for these patients. äLoss-of-function mutations in TNFAIP3 leading to A20 haploinsufficienc(epmc).pdf DeepDyve Pubget Overpricing