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10.1002/art.38008 http://scihub22266oqcxt.onion/10.1002/art.38008 C4066615!4066615 !23666743     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 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 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 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 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\23666743 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       Arthritis+Rheum 2013 ; 65 (8 ): 2161-71 Nephropedia Template TP {{tp|p=23666743 |t=2013. Protein kinase c? deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation |pdf=|usr=}}{{23666743 }} gab.com Text Protein kinase c deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation JO: Arthritis Rheum http://www.kidney.de/pget.php?&tw=1&pmid=23666743 #FOAvip OBJECTIVE: Systemic lupus erythematosus (SLE) is a prototype autoimmune disease that is assumed to occur via a complex interplay of environmental and genetic factors. Rare causes of monogenic SLE have been described, providing unique insights into fundamental mechanisms of immune tolerance. The aim of this study was to identify the cause of an autosomal-recessive form of SLE. METHODS: We studied 3 siblings with juvenile-onset SLE from 1 consanguineous kindred and used next-generation sequencing to identify mutations in the disease-associated gene. We performed extensive biochemical, immunologic, and functional assays to assess the impact of the identified mutations on B cell biology. RESULTS: We identified a homozygous missense mutation in PRKCD, encoding protein kinase ? (PKC?), in all 3 affected siblings. Mutation of PRKCD resulted in reduced expression and activity of the encoded protein PKC? (involved in the deletion of autoreactive B cells), leading to resistance to B cell receptor- and calcium-dependent apoptosis and increased B cell proliferation. Thus, as for mice deficient in PKC?, which exhibit an SLE phenotype and B cell expansion, we observed an increased number of immature B cells in the affected family members and a developmental shift toward naive B cells with an immature phenotype. CONCLUSION: Our findings indicate that PKC? is crucial in regulating B cell tolerance and preventing self-reactivity in humans, and that PKC? deficiency represents a novel genetic defect of apoptosis leading to SLE. Twit Text FOAVip Protein kinase c deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation ????Arthritis Rheum http://www.kidney.de/pget.php?&tw=1&pmid=23666743 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23666743 #FOAvip English Wikipedia <ref>{{Cite pmid|23666743 }}</ref> Protein kinase c? deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation #MMPMID23666743 Belot A ; Kasher PR ; Trotter EW ; Foray AP ; Debaud AL ; Rice GI ; Szynkiewicz M ; Zabot MT ; Rouvet I ; Bhaskar SS ; Daly SB ; Dickerson JE ; Mayer J ; O'Sullivan J ; Juillard L ; Urquhart JE ; Fawdar S ; Marusiak AA ; Stephenson N ; Waszkowycz B ; W Beresford M ; Biesecker LG ; C M Black G ; René C ; Eliaou JF ; Fabien N ; Ranchin B ; Cochat P ; Gaffney PM ; Rozenberg F ; Lebon P ; Malcus C ; Crow YJ ; Brognard J ; Bonnefoy N Arthritis Rheum 2013[Aug]; 65 (8 ): 2161-71 PMID23666743 show ga OBJECTIVE: Systemic lupus erythematosus (SLE) is a prototype autoimmune disease that is assumed to occur via a complex interplay of environmental and genetic factors. Rare causes of monogenic SLE have been described, providing unique insights into fundamental mechanisms of immune tolerance. The aim of this study was to identify the cause of an autosomal-recessive form of SLE. METHODS: We studied 3 siblings with juvenile-onset SLE from 1 consanguineous kindred and used next-generation sequencing to identify mutations in the disease-associated gene. We performed extensive biochemical, immunologic, and functional assays to assess the impact of the identified mutations on B cell biology. RESULTS: We identified a homozygous missense mutation in PRKCD, encoding protein kinase ? (PKC?), in all 3 affected siblings. Mutation of PRKCD resulted in reduced expression and activity of the encoded protein PKC? (involved in the deletion of autoreactive B cells), leading to resistance to B cell receptor- and calcium-dependent apoptosis and increased B cell proliferation. Thus, as for mice deficient in PKC?, which exhibit an SLE phenotype and B cell expansion, we observed an increased number of immature B cells in the affected family members and a developmental shift toward naive B cells with an immature phenotype. CONCLUSION: Our findings indicate that PKC? is crucial in regulating B cell tolerance and preventing self-reactivity in humans, and that PKC? deficiency represents a novel genetic defect of apoptosis leading to SLE. |*Apoptosis [MESH] |*Mutation, Missense [MESH] |Adolescent [MESH] |Adult [MESH] |B-Lymphocytes/immunology/metabolism/*pathology [MESH] |Cell Proliferation [MESH] |Child [MESH] |Female [MESH] |Genetic Variation [MESH] |Homozygote [MESH] |Humans [MESH] |Hyperplasia [MESH] |Immune Tolerance [MESH] |Lupus Erythematosus, Systemic/*enzymology/*genetics/pathology [MESH] |Male [MESH] |Polymorphism, Single Nucleotide [MESH] |Protein Kinase C-delta/*deficiency/*genetics/immunology [MESH]Protein kinase c? deficiency causes mendelian systemic lupus erythemat(epmc).pdf DeepDyve Pubget Overpricing