Matches in SemOpenAlex for { <https://semopenalex.org/work/W4220657508> ?p ?o ?g. }
- W4220657508 endingPage "3095" @default.
- W4220657508 startingPage "3095" @default.
- W4220657508 abstract "A type 3 von Willebrand disease (VWD) index patient (IP) remains mutation-negative after completion of the conventional diagnostic analysis, including multiplex ligation-dependent probe amplification and sequencing of the promoter, exons, and flanking intronic regions of the VWF gene (VWF). In this study, we intended to elucidate causative mutation through next-generation sequencing (NGS) of the whole VWF (including complete intronic region), mRNA analysis, and study of the patient-derived endothelial colony-forming cells (ECFCs). The NGS revealed a variant in the intronic region of VWF (997 + 118 T > G in intron 8), for the first time. The bioinformatics assessments (e.g., SpliceAl) predicted this variant creates a new donor splice site (ss), which could outcompete the consensus 5′ donor ss at exon/intron 8. This would lead to an aberrant mRNA that contains a premature stop codon, targeting it to nonsense-mediated mRNA decay. The subsequent quantitative real-time PCR confirmed the virtual absence of VWF mRNA in IP ECFCs. Additionally, the IP ECFCs demonstrated a considerable reduction in VWF secretion (~6% of healthy donors), and they were devoid of endothelial-specific secretory organelles, Weibel−Palade bodies. Our findings underline the potential of NGS in conjunction with RNA analysis and patient-derived cell studies for genetic diagnosis of mutation-negative type 3 VWD patients." @default.
- W4220657508 created "2022-04-03" @default.
- W4220657508 creator A5001430155 @default.
- W4220657508 creator A5033589468 @default.
- W4220657508 creator A5056910106 @default.
- W4220657508 creator A5080976928 @default.
- W4220657508 date "2022-03-13" @default.
- W4220657508 modified "2023-09-26" @default.
- W4220657508 title "A Homozygous Deep Intronic Variant Causes Von Willebrand Factor Deficiency and Lack of Endothelial-Specific Secretory Organelles, Weibel–Palade Bodies" @default.
- W4220657508 cites W135299688 @default.
- W4220657508 cites W1505239733 @default.
- W4220657508 cites W1581087233 @default.
- W4220657508 cites W1589444790 @default.
- W4220657508 cites W1953610784 @default.
- W4220657508 cites W1968444582 @default.
- W4220657508 cites W1980884659 @default.
- W4220657508 cites W1990942416 @default.
- W4220657508 cites W1994849771 @default.
- W4220657508 cites W2011334787 @default.
- W4220657508 cites W2011547446 @default.
- W4220657508 cites W2012682667 @default.
- W4220657508 cites W2020097016 @default.
- W4220657508 cites W2036897871 @default.
- W4220657508 cites W2042350316 @default.
- W4220657508 cites W2050370340 @default.
- W4220657508 cites W2051832959 @default.
- W4220657508 cites W2056967728 @default.
- W4220657508 cites W2058166036 @default.
- W4220657508 cites W2064246472 @default.
- W4220657508 cites W2066589515 @default.
- W4220657508 cites W2070049032 @default.
- W4220657508 cites W2082069336 @default.
- W4220657508 cites W2083360661 @default.
- W4220657508 cites W2083996220 @default.
- W4220657508 cites W2088430058 @default.
- W4220657508 cites W2096067053 @default.
- W4220657508 cites W2101962720 @default.
- W4220657508 cites W2104680298 @default.
- W4220657508 cites W2129790740 @default.
- W4220657508 cites W2140729960 @default.
- W4220657508 cites W2141441699 @default.
- W4220657508 cites W2170551349 @default.
- W4220657508 cites W2198392330 @default.
- W4220657508 cites W2252676811 @default.
- W4220657508 cites W2313334114 @default.
- W4220657508 cites W2350123421 @default.
- W4220657508 cites W2417483443 @default.
- W4220657508 cites W2424323355 @default.
- W4220657508 cites W2517498730 @default.
- W4220657508 cites W2545491855 @default.
- W4220657508 cites W2549291642 @default.
- W4220657508 cites W2609428916 @default.
- W4220657508 cites W2613432108 @default.
- W4220657508 cites W2757056566 @default.
- W4220657508 cites W2763002867 @default.
- W4220657508 cites W2766752424 @default.
- W4220657508 cites W2811329572 @default.
- W4220657508 cites W2909194804 @default.
- W4220657508 cites W2965335482 @default.
- W4220657508 cites W2974592864 @default.
- W4220657508 cites W2978630030 @default.
- W4220657508 cites W2998894517 @default.
- W4220657508 cites W3002294114 @default.
- W4220657508 cites W3002906249 @default.
- W4220657508 cites W3047289224 @default.
- W4220657508 cites W3121114429 @default.
- W4220657508 cites W3134921846 @default.
- W4220657508 cites W3159624825 @default.
- W4220657508 cites W3171063088 @default.
- W4220657508 cites W3197381589 @default.
- W4220657508 cites W3216230580 @default.
- W4220657508 cites W4200122760 @default.
- W4220657508 cites W4210693078 @default.
- W4220657508 cites W4225725548 @default.
- W4220657508 cites W4247292500 @default.
- W4220657508 doi "https://doi.org/10.3390/ijms23063095" @default.
- W4220657508 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/35328514" @default.
- W4220657508 hasPublicationYear "2022" @default.
- W4220657508 type Work @default.
- W4220657508 citedByCount "0" @default.
- W4220657508 crossrefType "journal-article" @default.
- W4220657508 hasAuthorship W4220657508A5001430155 @default.
- W4220657508 hasAuthorship W4220657508A5033589468 @default.
- W4220657508 hasAuthorship W4220657508A5056910106 @default.
- W4220657508 hasAuthorship W4220657508A5080976928 @default.
- W4220657508 hasBestOaLocation W42206575081 @default.
- W4220657508 hasConcept C104317684 @default.
- W4220657508 hasConcept C153911025 @default.
- W4220657508 hasConcept C203014093 @default.
- W4220657508 hasConcept C2778780528 @default.
- W4220657508 hasConcept C2779394231 @default.
- W4220657508 hasConcept C36823959 @default.
- W4220657508 hasConcept C501734568 @default.
- W4220657508 hasConcept C54355233 @default.
- W4220657508 hasConcept C54458228 @default.
- W4220657508 hasConcept C67705224 @default.
- W4220657508 hasConcept C70219777 @default.
- W4220657508 hasConcept C75563809 @default.