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10.1182/blood-2015-10-678052 http://scihub22266oqcxt.onion/10.1182/blood-2015-10-678052 C4965908!4965908 !27317792     free     free     free Warning: file_get_contents(https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=27317792 &cmd=llinks): Failed to open stream: HTTP request failed! 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Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism |pdf=|usr=}}{{27317792 }} gab.com Text Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism JO: Blood http://www.kidney.de/pget.php?&tw=1&pmid=27317792 #FOAvip Approximately 10% of von Willebrand factor (VWF) gene mutations are thought to alter messenger RNA (mRNA) splicing through disruption of consensus splice sites. This mechanism is likely underrecognized and affected by mutations outside consensus splice sites. During VWF synthesis, splicing abnormalities lead to qualitative defects or quantitative deficiencies in VWF. This study investigated the pathologic mechanism acting in 3 von Willebrand disease (VWD) families with putative splicing mutations using patient-derived blood outgrowth endothelial cells (BOECs) and a heterologous human embryonic kidney (HEK 293(T)) cell model. The exonic mutation c.3538G>A causes 3 in-frame splicing variants (23del, 26del, and 23/26del) which cannot bind platelets, blood coagulation factor VIII, or collagen, causing VWD through dominant-negative intracellular retention of coexpressed wild-type (WT) VWF, and increased trafficking to lysosomes. Individuals heterozygous for the c.5842+1G>C mutation produce exon 33 skipping, exons 33-34 skipping, and WT VWF transcripts. Pathogenic intracellular retention of VWF lacking exons 33-34 causes their VWD. The branch site mutation c.6599-20A>T causes type 1 VWD through mRNA degradation of exon 38 skipping transcripts. Splicing ratios of aberrant transcripts and coexpressed WT were altered in the BOECs with exposure to shear stress. This study provides evidence of mutations outside consensus splice sites disrupting splicing and introduces the concept that VWF splicing is affected by shear stress on endothelial cells. Twit Text FOAVip Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism ????Blood http://www.kidney.de/pget.php?&tw=1&pmid=27317792 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=27317792 #FOAvip English Wikipedia <ref>{{Cite pmid|27317792 }}</ref> Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism #MMPMID27317792 Hawke L ; Bowman ML ; Poon MC ; Scully MF ; Rivard GE ; James PD Blood 2016[Jul]; 128 (4 ): 584-93 PMID27317792 show ga Approximately 10% of von Willebrand factor (VWF) gene mutations are thought to alter messenger RNA (mRNA) splicing through disruption of consensus splice sites. This mechanism is likely underrecognized and affected by mutations outside consensus splice sites. During VWF synthesis, splicing abnormalities lead to qualitative defects or quantitative deficiencies in VWF. This study investigated the pathologic mechanism acting in 3 von Willebrand disease (VWD) families with putative splicing mutations using patient-derived blood outgrowth endothelial cells (BOECs) and a heterologous human embryonic kidney (HEK 293(T)) cell model. The exonic mutation c.3538G>A causes 3 in-frame splicing variants (23del, 26del, and 23/26del) which cannot bind platelets, blood coagulation factor VIII, or collagen, causing VWD through dominant-negative intracellular retention of coexpressed wild-type (WT) VWF, and increased trafficking to lysosomes. Individuals heterozygous for the c.5842+1G>C mutation produce exon 33 skipping, exons 33-34 skipping, and WT VWF transcripts. Pathogenic intracellular retention of VWF lacking exons 33-34 causes their VWD. The branch site mutation c.6599-20A>T causes type 1 VWD through mRNA degradation of exon 38 skipping transcripts. Splicing ratios of aberrant transcripts and coexpressed WT were altered in the BOECs with exposure to shear stress. This study provides evidence of mutations outside consensus splice sites disrupting splicing and introduces the concept that VWF splicing is affected by shear stress on endothelial cells. |*Point Mutation [MESH] |*RNA Splice Sites [MESH] |*RNA Splicing [MESH] |Exons [MESH] |Female [MESH] |HEK293 Cells [MESH] |Humans [MESH] |Male [MESH] |RNA Stability/genetics [MESH] |RNA, Messenger/genetics/metabolism [MESH] |von Willebrand Disease, Type 1/*genetics/metabolism [MESH] |von Willebrand Disease, Type 3/*genetics/metabolism [MESH]Characterization of aberrant splicing of von Willebrand factor in von (epmc).pdf DeepDyve Pubget Overpricing