{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T10:47:49Z","timestamp":1787827669300,"version":"build-2784847793"},"reference-count":48,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2024,4,1]],"date-time":"2024-04-01T00:00:00Z","timestamp":1711929600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"content-domain":{"domain":["clinicalkey.fr","clinicalkey.jp","clinicalkey.com.au","thrombosisresearch.com","clinicalkey.es","clinicalkey.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Thrombosis Research"],"published-print":{"date-parts":[[2024,4]]},"DOI":"10.1016\/j.thromres.2024.02.002","type":"journal-article","created":{"date-parts":[[2024,2,5]],"date-time":"2024-02-05T07:09:03Z","timestamp":1707116943000},"page":"51-60","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":3,"special_numbering":"C","title":["A noncanonical splicing variant c.875-5\u00a0T\u00a0&gt;\u00a0G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease"],"prefix":"10.1016","volume":"236","author":[{"given":"Qian","family":"Liang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ziqi","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Biying","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanyan","family":"Shao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qiulan","family":"Ding","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Dai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xiaobo","family":"Hu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenman","family":"Wu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xuefeng","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.thromres.2024.02.002_bb0005","doi-asserted-by":"crossref","first-page":"2103","DOI":"10.1111\/j.1538-7836.2006.02146.x","article-title":"Update on the pathophysiology and classification of von Willebrand disease: a report of the subcommittee on von Willebrand factor","volume":"4","author":"Sadler","year":"2006","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0010","doi-asserted-by":"crossref","first-page":"25585","DOI":"10.1074\/jbc.M002654200","article-title":"Localization of disulfide bonds in the cystine knot domain of human von Willebrand factor","volume":"275","author":"Katsumi","year":"2000","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.thromres.2024.02.002_bb0015","doi-asserted-by":"crossref","first-page":"797","DOI":"10.1002\/j.1460-2075.1990.tb08176.x","article-title":"Domains involved in multimer assembly of von willebrand factor (vWF): multimerization is independent of dimerization","volume":"9","author":"Voorberg","year":"1990","journal-title":"EMBO J."},{"key":"10.1016\/j.thromres.2024.02.002_bb0020","doi-asserted-by":"crossref","first-page":"15647","DOI":"10.1073\/pnas.0705175104","article-title":"Two Cys residues essential for von Willebrand factor multimer assembly in the Golgi","volume":"104","author":"Purvis","year":"2007","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.thromres.2024.02.002_bb0025","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1182\/blood.2020005989","article-title":"Disulfide exchange in multimerization of von Willebrand factor and gel-forming mucins","volume":"137","author":"Dong","year":"2021","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0030","doi-asserted-by":"crossref","first-page":"1753","DOI":"10.1182\/blood-2015-04-512731","article-title":"von Willebrand factor propeptide: biology and clinical utility","volume":"126","author":"Haberichter","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0035","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1097\/MOH.0000000000000169","article-title":"ADAMTS13 and von Willebrand factor interactions","volume":"22","author":"Zander","year":"2015","journal-title":"Curr. Opin. Hematol."},{"key":"10.1016\/j.thromres.2024.02.002_bb0040","doi-asserted-by":"crossref","first-page":"2739","DOI":"10.1182\/blood-2003-12-4286","article-title":"A novel type 2A von Willebrand factor mutation located at the last nucleotide of exon 26 (3538G>a) causes skipping of 2 nonadjacent exons","volume":"104","author":"James","year":"2004","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0045","doi-asserted-by":"crossref","first-page":"1251","DOI":"10.1111\/jth.12280","article-title":"A synonymous (c.3390C>T) or a splice-site (c.3380-2A>G) mutation causes exon 26 skipping in four patients with von Willebrand disease (2A\/IIE)","volume":"11","author":"Pagliari","year":"2013","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0050","doi-asserted-by":"crossref","first-page":"1534","DOI":"10.1160\/TH16-10-0794","article-title":"Molecular and clinical profile of VWD in a large cohort of Chinese population: application of next generation sequencing and CNVplex((R)) technique","volume":"117","author":"Liang","year":"2017","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0055","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1186\/s13045-015-0166-9","article-title":"Mutations in the D1 domain of von Willebrand factor impair their propeptide-dependent multimerization, intracellular trafficking and secretion","volume":"8","author":"Yin","year":"2015","journal-title":"J. Hematol. Oncol."},{"key":"10.1016\/j.thromres.2024.02.002_bb0060","unstructured":"ISTH-BAT. Available from: https:\/\/bh.rockefeller.edu\/ISTH-BATR\/."},{"key":"10.1016\/j.thromres.2024.02.002_bb0065","doi-asserted-by":"crossref","first-page":"679","DOI":"10.1111\/j.1538-7836.2011.04204.x","article-title":"The study of the effect of splicing mutations in von Willebrand factor using RNA isolated from patients\u2019 platelets and leukocytes","volume":"9","author":"Corrales","year":"2011","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0070","doi-asserted-by":"crossref","first-page":"215","DOI":"10.1002\/humu.24312","article-title":"Unraveling the molecular basis underlying nine putative splice site variants of von Willebrand factor","volume":"43","author":"Liang","year":"2022","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.thromres.2024.02.002_bb0075","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1160\/TH14-06-0523","article-title":"Characterisation and quantification of F8 transcripts of ten putative splice site mutations","volume":"113","author":"Liang","year":"2015","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0080","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1016\/j.cell.2018.12.015","article-title":"Predicting splicing from primary sequence with deep learning","volume":"176","author":"Jaganathan","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.thromres.2024.02.002_bb0085","doi-asserted-by":"crossref","first-page":"1699","DOI":"10.1182\/blood-2002-03-0789","article-title":"The role of the D1 domain of the von Willebrand factor propeptide in multimerization of VWF","volume":"100","author":"Rosenberg","year":"2002","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0090","doi-asserted-by":"crossref","DOI":"10.1016\/j.tox.2022.153324","article-title":"HIF-1alpha inhibits T-2 toxin-mediated \"immune evasion\" process by negatively regulating PD-1\/PD-L1","volume":"480","author":"You","year":"2022","journal-title":"Toxicology"},{"key":"10.1016\/j.thromres.2024.02.002_bb0095","doi-asserted-by":"crossref","first-page":"145","DOI":"10.1182\/blood-2006-05-021105","article-title":"The mutational spectrum of type 1 von Willebrand disease: results from a Canadian cohort study","volume":"109","author":"James","year":"2007","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0100","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1016\/0378-1119(94)90567-3","article-title":"Construction of a novel database containing aberrant splicing mutations of mammalian genes","volume":"141","author":"Nakai","year":"1994","journal-title":"Gene"},{"key":"10.1016\/j.thromres.2024.02.002_bb0105","doi-asserted-by":"crossref","DOI":"10.3390\/mps4030062","article-title":"What\u2019s wrong in a jump? Prediction and validation of splice site variants","volume":"4","author":"Riolo","year":"2021","journal-title":"Methods Protoc"},{"key":"10.1016\/j.thromres.2024.02.002_bb0110","doi-asserted-by":"crossref","first-page":"4630","DOI":"10.1093\/nar\/gkl535","article-title":"Aberrant 3\u2032 splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization","volume":"34","author":"Vorechovsky","year":"2006","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.thromres.2024.02.002_bb0115","doi-asserted-by":"crossref","first-page":"40638","DOI":"10.1074\/jbc.M105642200","article-title":"TIA-1 and TIAR activate splicing of alternative exons with weak 5\u2032 splice sites followed by a U-rich stretch on their own pre-mRNAs","volume":"276","author":"Le Guiner","year":"2001","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.thromres.2024.02.002_bb0120","doi-asserted-by":"crossref","first-page":"1247","DOI":"10.1101\/gr.073155.107","article-title":"A systematic analysis of intronic sequences downstream of 5\u2032 splice sites reveals a widespread role for U-rich motifs and TIA1\/TIAL1 proteins in alternative splicing regulation","volume":"18","author":"Aznarez","year":"2008","journal-title":"Genome Res."},{"key":"10.1016\/j.thromres.2024.02.002_bb0125","doi-asserted-by":"crossref","DOI":"10.1093\/gigascience\/giad085","article-title":"Computational prediction of human deep intronic variation","volume":"12","author":"Barbosa","year":"2022","journal-title":"Gigascience"},{"key":"10.1016\/j.thromres.2024.02.002_bb0130","doi-asserted-by":"crossref","first-page":"2144","DOI":"10.1182\/blood-2016-02-699686","article-title":"Intron retention resulting from a silent mutation in the VWF gene that structurally influences the 5\u2032 splice site","volume":"128","author":"Yadegari","year":"2016","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0135","doi-asserted-by":"crossref","first-page":"587","DOI":"10.3324\/haematol.2018.203166","article-title":"Unraveling the effect of silent, intronic and missense mutations on VWF splicing: contribution of next generation sequencing in the study of mRNA","volume":"104","author":"Borras","year":"2019","journal-title":"Haematologica"},{"key":"10.1016\/j.thromres.2024.02.002_bb0140","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1073\/pnas.0136770100","article-title":"Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans","volume":"100","author":"Lewis","year":"2003","journal-title":"Proc. Natl. Acad. Sci. U. S. A."},{"key":"10.1016\/j.thromres.2024.02.002_bb0145","doi-asserted-by":"crossref","first-page":"2736","DOI":"10.1111\/j.1538-7836.2010.04060.x","article-title":"Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies","volume":"8","author":"Castaman","year":"2010","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0150","doi-asserted-by":"crossref","first-page":"48","DOI":"10.1016\/j.bcmd.2012.03.007","article-title":"Nonsense mediated decay of VWF mRNA subsequent to c.7674-7675insC mutation in type3 VWD patients","volume":"49","author":"Shahbazi","year":"2012","journal-title":"Blood Cells Mol. Dis."},{"key":"10.1016\/j.thromres.2024.02.002_bb0155","doi-asserted-by":"crossref","first-page":"172","DOI":"10.3324\/haematol.2009.012336","article-title":"Premature termination codon mutations in the von Willebrand factor gene are associated with allele-specific and position-dependent mRNA decay","volume":"95","author":"Plate","year":"2010","journal-title":"Haematologica"},{"key":"10.1016\/j.thromres.2024.02.002_bb0160","doi-asserted-by":"crossref","first-page":"584","DOI":"10.1182\/blood-2015-10-678052","article-title":"Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism","volume":"128","author":"Hawke","year":"2016","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0165","doi-asserted-by":"crossref","first-page":"5371","DOI":"10.1182\/blood-2010-02-268920","article-title":"The dominant-negative von Willebrand factor gene deletion p.P1127_C1948delinsR: molecular mechanism and modulation","volume":"116","author":"Casari","year":"2010","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0170","doi-asserted-by":"crossref","first-page":"2979","DOI":"10.1182\/bloodadvances.2018027813","article-title":"Characterization of large in-frame von Willebrand factor deletions highlights differing pathogenic mechanisms","volume":"4","author":"Cartwright","year":"2020","journal-title":"Blood Adv."},{"key":"10.1016\/j.thromres.2024.02.002_bb0175","doi-asserted-by":"crossref","first-page":"1599","DOI":"10.1111\/jth.15740","article-title":"von Willebrand factor propeptide variants lead to impaired storage and ER retention in patient-derived endothelial colony-forming cells","volume":"20","author":"Bowman","year":"2022","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0180","doi-asserted-by":"crossref","first-page":"3314","DOI":"10.1182\/blood.2021014729","article-title":"Structural basis of Von Willebrand factor multimerization and tubular storage","author":"Zeng","year":"2022","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0185","doi-asserted-by":"crossref","first-page":"2452","DOI":"10.1182\/blood-2003-02-0599","article-title":"Analysis of intracellular storage and regulated secretion of 3 von Willebrand disease-causing variants of von Willebrand factor","volume":"102","author":"Michaux","year":"2003","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0190","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1172\/JCI110700","article-title":"Aberrant multimeric structure of von Willebrand factor in a new variant of von Willebrand\u2019s disease (type IIC)","volume":"70","author":"Ruggeri","year":"1982","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.thromres.2024.02.002_bb0195","doi-asserted-by":"crossref","first-page":"718","DOI":"10.1055\/s-0037-1615051","article-title":"Ins405AsnPro mutation in the von Willebrand factor propeptide in recessive type 2A (IIC) von Willebrand\u2019s disease","volume":"79","author":"Holmberg","year":"1998","journal-title":"Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0200","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1159\/000214851","article-title":"Laboratory and molecular characteristics of recessive von Willebrand disease type 2C (2A subtype IIC) of variable severity due to homozygous or double heterozygous mutations in the D1 and D2 domains","volume":"121","author":"Michiels","year":"2009","journal-title":"Acta Haematol."},{"key":"10.1016\/j.thromres.2024.02.002_bb0205","doi-asserted-by":"crossref","first-page":"1725","DOI":"10.1111\/jth.13398","article-title":"Identification and characterization of the elusive mutation causing the historical von Willebrand disease type IIC Miami","volume":"14","author":"Obser","year":"2016","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0210","doi-asserted-by":"crossref","first-page":"641","DOI":"10.1111\/j.1538-7836.2009.03290.x","article-title":"Genetic alteration of the D2 domain abolishes von Willebrand factor multimerization and trafficking into storage","volume":"7","author":"Haberichter","year":"2009","journal-title":"J. Thromb. Haemost."},{"key":"10.1016\/j.thromres.2024.02.002_bb0215","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1007\/BF00209487","article-title":"Identification of a candidate missense mutation in a family with von Willebrand disease type IIC","volume":"95","author":"Schneppenheim","year":"1995","journal-title":"Hum. Genet."},{"key":"10.1016\/j.thromres.2024.02.002_bb0220","doi-asserted-by":"crossref","first-page":"2973","DOI":"10.1182\/blood.V98.10.2973","article-title":"Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers: a possible general mechanism for dominant mutations of oligomeric proteins","volume":"98","author":"Bodo","year":"2001","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0225","doi-asserted-by":"crossref","first-page":"2433","DOI":"10.1182\/blood.V88.7.2433.bloodjournal8872433","article-title":"Dominant type 1 von Willebrand disease caused by mutated cysteine residues in the D3 domain of von Willebrand factor","volume":"88","author":"Eikenboom","year":"1996","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0230","doi-asserted-by":"crossref","first-page":"262","DOI":"10.1182\/blood-2014-11-613935","article-title":"Variable content of von Willebrand factor mutant monomer drives the phenotypic variability in a family with von Willebrand disease","volume":"126","author":"Chen","year":"2015","journal-title":"Blood"},{"key":"10.1016\/j.thromres.2024.02.002_bb0235","doi-asserted-by":"crossref","first-page":"556","DOI":"10.1111\/j.1365-2516.2008.01703.x","article-title":"L1503R is a member of group I mutation and has dominant-negative effect on secretion of full-length VWF multimers: an analysis of two patients with type 2A von Willebrand disease","volume":"14","author":"Kashiwagi","year":"2008","journal-title":"Haemophilia"},{"key":"10.1016\/j.thromres.2024.02.002_bb0240","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1016\/0092-8674(88)90511-9","article-title":"The propeptide of von Willebrand factor independently mediates the assembly of von Willebrand multimers","volume":"52","author":"Wise","year":"1988","journal-title":"Cell"}],"container-title":["Thrombosis Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0049384824000379?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0049384824000379?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2024,6,1]],"date-time":"2024-06-01T14:18:05Z","timestamp":1717251485000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0049384824000379"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,4]]},"references-count":48,"alternative-id":["S0049384824000379"],"URL":"https:\/\/doi.org\/10.1016\/j.thromres.2024.02.002","relation":{},"ISSN":["0049-3848"],"issn-type":[{"value":"0049-3848","type":"print"}],"subject":[],"published":{"date-parts":[[2024,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"A noncanonical splicing variant c.875-5\u00a0T\u00a0>\u00a0G in von Willebrand factor causes in-frame exon skipping and type 2A von Willebrand disease","name":"articletitle","label":"Article Title"},{"value":"Thrombosis Research","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.thromres.2024.02.002","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2024 Published by Elsevier Ltd.","name":"copyright","label":"Copyright"}]}}