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10.1038/ni.3753 http://scihub22266oqcxt.onion/10.1038/ni.3753 C5593426!5593426!28530713     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       Nat+Immunol 2017 ; 18 (7): 813-23 Nephropedia Template TP {{tp|p=28530713|t=2017. BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency |pdf=|usr=}}{{28530713}} gab.com Text BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency JO: Nat Immunol http://www.kidney.de/pget.php?&tw=1&pmid=28530713 #FOAvip Transcriptional programs guiding lymphocyte differentiation depend on precise expression and timing of transcription factors (TFs). BACH2 is a TF essential for T- and B-lymphocytes and is associated with an archetypal super-enhancer (SE). Single nucleotide variants in the BACH2 locus associate with multiple autoimmune diseases but BACH2 mutations causing Mendelian monogenic primary immunodeficiency have not previously been identified. We describe a syndrome of BACH2-related immunodeficiency and autoimmunity (BRIDA) resulting from BACH2 haploinsufficiency. Patients had lymphocyte maturation defects, causing immunoglobulin deficiency and intestinal inflammation. The mutations disrupted protein stability by interfering with homodimerization or by causing aggregation. Analogous lymphocyte defects existed in Bach2 heterozygous mice. More generally, we found that genes causing monogenic haploinsufficient diseases are substantially enriched for TFs and SE-architecture. These observations show a new feature of SE-architecture in Mendelian diseases of immunity, that heterozygous mutations in SE-regulated genes identified on whole exome/genome sequencing may have greater significance than recognized. Twit Text FOAVip BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency ????Nat Immunol http://www.kidney.de/pget.php?&tw=1&pmid=28530713 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=28530713 #FOAvip English Wikipedia <ref>{{Cite pmid|28530713}}</ref> BACH2 immunodeficiency illustrates an association between super-enhancers and haploinsufficiency #MMPMID28530713 Afzali B; Grönholm J; Vandrovcova J; O?Brien C; Sun HW; Vanderleyden I; Davis FP; Khoder A; Zhang Y; Hegazy AN; Villarino AV; Palmer IW; Kaufman J; Watts NR; Kazemian M; Kamenyeva O; Keith J; Sayed A; Kasperaviciute D; Mueller M; Hughes JD; Fuss IJ; Sadiyah MF; Montgomery-Recht K; McElwee J; Restifo NP; Strober W; Linterman MA; Wingfield PT; Uhlig HH; Roychoudhuri R; Aitman TJ; Kelleher P; Lenardo MJ; O?Shea JJ; Cooper N; Laurence AD Nat Immunol 2017[Jul]; 18 (7): 813-23 PMID28530713show ga Transcriptional programs guiding lymphocyte differentiation depend on precise expression and timing of transcription factors (TFs). BACH2 is a TF essential for T- and B-lymphocytes and is associated with an archetypal super-enhancer (SE). Single nucleotide variants in the BACH2 locus associate with multiple autoimmune diseases but BACH2 mutations causing Mendelian monogenic primary immunodeficiency have not previously been identified. We describe a syndrome of BACH2-related immunodeficiency and autoimmunity (BRIDA) resulting from BACH2 haploinsufficiency. Patients had lymphocyte maturation defects, causing immunoglobulin deficiency and intestinal inflammation. The mutations disrupted protein stability by interfering with homodimerization or by causing aggregation. Analogous lymphocyte defects existed in Bach2 heterozygous mice. More generally, we found that genes causing monogenic haploinsufficient diseases are substantially enriched for TFs and SE-architecture. These observations show a new feature of SE-architecture in Mendelian diseases of immunity, that heterozygous mutations in SE-regulated genes identified on whole exome/genome sequencing may have greater significance than recognized. äBACH2 immunodeficiency illustrates an association between super-enhanc(epmc).pdf DeepDyve Pubget Overpricing