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10.1371/journal.pone.0123922

http://scihub22266oqcxt.onion/10.1371/journal.pone.0123922
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C4391781!4391781!25856582
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suck abstract from ncbi


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pmid25856582      PLoS+One 2015 ; 10 (4): ä
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  • Frequent Down Regulation of the Tumor Suppressor Gene A20 in Multiple Myeloma #MMPMID25856582
  • Troppan K; Hofer S; Wenzl K; Lassnig M; Pursche B; Steinbauer E; Wiltgen M; Zulus B; Renner W; Beham-Schmid C; Deutsch A; Neumeister P
  • PLoS One 2015[]; 10 (4): ä PMID25856582show ga
  • Multiple myeloma (MM) is a malignant clonal expansion of plasma cells in the bone marrow and belongs to the mature B-cell neoplams. The pathogenesis of MM is associated with constitutive NF-?B activation. However, genetic alterations causing constitutive NF-?B activation are still incompletely understood. Since A20 (TNFAIP3) is a suppressor of the NF-?B pathway and is frequently inactivated in various lymphoid malignancies, we investigated the genetic and epigenetic properties of A20 in MM. In total, of 46 patient specimens analyzed, 3 single base pair exchanges, 2 synonymous mutations and one missense mutation were detected by direct sequencing. Gene copy number analysis revealed a reduced A20 gene copy number in 8 of 45 (17.7%) patients. Furthermore, immunohistochemical staining confirmed that A20 expression correlates with the reduction of A20 gene copy number. These data suggest that A20 contributes to tumor formation in a significant fraction of myeloma patients.
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