Nucleotide sequence of pre-pro-von Willebrand factor cDNA.Bonthron D., Orr E.C., Mitsock L.M., Ginsburg D., Handin R.I., Orkin S.H.Nucleic Acids Res. 14:7125-7128(1986)
Structure of the gene for human von Willebrand factor.Mancuso D.J., Tuley E.A., Westfield L.A., Worrall N.K., Shelton-Inloes B.B., Sorace J.M., Alevy Y.G., Sadler J.E.J. Biol. Chem. 264:19514-19527(1989)
The finished DNA sequence of human chromosome 12.Scherer S.E., Muzny D.M., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Montgomery K.T., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Lovering R.C., Wheeler D.A., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clerc-Blankenburg K.P., Davis C., Delgado O., Dinh H.H., Draper H., Gonzalez-Garay M.L., Havlak P., Jackson L.R., Jacob L.S., Kelly S.H., Li L., Li Z., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Pasternak S., Perez L.M., Plopper F.J.H., Santibanez J., Shen H., Tabor P.E., Verduzco D., Waldron L., Wang Q., Williams G.A., Zhang J., Zhou J., Allen C.C., Amin A.G., Anyalebechi V., Bailey M., Barbaria J.A., Bimage K.E., Bryant N.P., Burch P.E., Burkett C.E., Burrell K.L., Calderon E., Cardenas V., Carter K., Casias K., Cavazos I., Cavazos S.R., Ceasar H., Chacko J., Chan S.N., Chavez D., Christopoulos C., Chu J., Cockrell R., Cox C.D., Dang M., Dathorne S.R., David R., Davis C.M., Davy-Carroll L., Deshazo D.R., Donlin J.E., D'Souza L., Eaves K.A., Egan A., Emery-Cohen A.J., Escotto M., Flagg N., Forbes L.D., Gabisi A.M., Garza M., Hamilton C., Henderson N., Hernandez O., Hines S., Hogues M.E., Huang M., Idlebird D.G., Johnson R., Jolivet A., Jones S., Kagan R., King L.M., Leal B., Lebow H., Lee S., LeVan J.M., Lewis L.C., London P., Lorensuhewa L.M., Loulseged H., Lovett D.A., Lucier A., Lucier R.L., Ma J., Madu R.C., Mapua P., Martindale A.D., Martinez E., Massey E., Mawhiney S., Meador M.G., Mendez S., Mercado C., Mercado I.C., Merritt C.E., Miner Z.L., Minja E., Mitchell T., Mohabbat F., Mohabbat K., Montgomery B., Moore N., Morris S., Munidasa M., Ngo R.N., Nguyen N.B., Nickerson E., Nwaokelemeh O.O., Nwokenkwo S., Obregon M., Oguh M., Oragunye N., Oviedo R.J., Parish B.J., Parker D.N., Parrish J., Parks K.L., Paul H.A., Payton B.A., Perez A., Perrin W., Pickens A., Primus E.L., Pu L.-L., Puazo M., Quiles M.M., Quiroz J.B., Rabata D., Reeves K., Ruiz S.J., Shao H., Sisson I., Sonaike T., Sorelle R.P., Sutton A.E., Svatek A.F., Svetz L.A., Tamerisa K.S., Taylor T.R., Teague B., Thomas N., Thorn R.D., Trejos Z.Y., Trevino B.K., Ukegbu O.N., Urban J.B., Vasquez L.I., Vera V.A., Villasana D.M., Wang L., Ward-Moore S., Warren J.T., Wei X., White F., Williamson A.L., Wleczyk R., Wooden H.S., Wooden S.H., Yen J., Yoon L., Yoon V., Zorrilla S.E., Nelson D., Kucherlapati R., Weinstock G., Gibbs R.A.Nature 440:346-351(2006)
Mural R.J., Istrail S., Sutton G., Florea L., Halpern A.L., Mobarry C.M., Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., Hunkapiller M.W., Myers E.W., Venter J.C.
Full-length von Willebrand factor (vWF)
cDNA encodes a highly repetitive protein considerably larger than the mature vWF subunit.Verweij C.L., Diergaarde P.J., Hart M., Pannekoek H.EMBO J. 5:1839-1847(1986)
ErratumVerweij C.L., Diergaarde P.J., Hart M., Pannekoek H.EMBO J. 5:3074-3074(1986)
The human von Willebrand factor gene. Structure of the 5' region.Bonthron D., Orkin S.H.Eur. J. Biochem. 171:51-57(1988)
Evolution of human von Willebrand factor
cDNA sequence polymorphisms, repeated domains, and relationship to von Willebrand antigen II.Shelton-Inloes B.B., Broze G.J. Jr., Miletich J.P., Sadler J.E.Biochem. Biophys. Res. Commun. 144:657-665(1987)
Amino acid sequence of human von Willebrand factor.Titani K., Kumar S., Takio K., Ericsson L.H., Wade R.D., Ashida K., Walsh K.A., Chopek M.W., Sadler J.E., Fujikawa K.Biochemistry 25:3171-3184(1986)
Cloning and characterization of two cDNAs coding for human von Willebrand factor.Sadler J.E., Shelton-Inloes B.B., Sorace J.M., Harlan J.M., Titani K., Davie E.W.Proc. Natl. Acad. Sci. U.S.A. 82:6394-6398(1985)
Exploring proteomes and analyzing protein processing by mass spectrometric identification of sorted N-terminal peptides.Gevaert K., Goethals M., Martens L., Van Damme J., Staes A., Thomas G.R., Vandekerckhove J.Nat. Biotechnol. 21:566-569(2003)
cDNA sequences for human von Willebrand factor reveal five types of repeated domains and five possible protein sequence polymorphisms.Shelton-Inloes B.B., Titani K., Sadler J.E.Biochemistry 25:3164-3171(1986)
Human von Willebrand factor gene and pseudogene
structural analysis and differentiation by polymerase chain reaction.Mancuso D.J., Tuley E.A., Westfield L.A., Lester-Mancuso T.L., Le Beau M.M., Sorace J.M., Sadler J.E.Biochemistry 30:253-269(1991)
Activation of human platelets by the membrane-expressed A1 domain of von Willebrand factor.Schulte am Esch J. II, Cruz M.A., Siegel J.B., Anrather J., Robson S.C.Blood 90:4425-4437(1997)
Human von Willebrand factor (vWF)
isolation of complementary DNA (cDNA)
clones and chromosomal localization.Ginsburg D., Handin R.I., Bonthron D.T., Donlon T.A., Bruns G.A.P., Latt S.A., Orkin S.H.Science 228:1401-1406(1985)
Molecular cloning of cDNA for human von Willebrand factor
authentication by a new method.Lynch D.C., Zimmerman T.S., Collins C.J., Brown M., Morin M.J., Ling E.H., Livingston D.M.Cell 41:49-56(1985)
Lynch D.C.Construction of cDNA coding for human von Willebrand factor using antibody probes for colony-screening and mapping of the chromosomal gene.Verweij C.L., de Vries C.J.M., Distel B., van Zonneveld A.-J., Geurts van Kessel A., van Mourik J.A., Pannekoek H.Nucleic Acids Res. 13:4699-4717(1985)
Molecular cloning of the human gene for von Willebrand factor and identification of the transcription initiation site.Collins C.J., Underdahl J.P., Levene R.B., Ravera C.P., Morin M.J., Dombalagian M.J., Ricca G., Livingston D.M., Lynch D.C.Proc. Natl. Acad. Sci. U.S.A. 84:4393-4397(1987)
von Willebrand factor storage and multimerization
2 independent intracellular processes.Haberichter S.L., Fahs S.A., Montgomery R.R.Blood 96:1808-1815(2000)
Identification of disulfide-bridged substructures within human von Willebrand factor.Marti T., Rosselet S.J., Titani K., Walsh K.A.Biochemistry 26:8099-8109(1987)
Primary structure of a new tetraantennary glycan of the N-acetyllactosaminic type isolated from human factor VIII/von Willebrand factor.Samor B., Michalski J.C., Debray H., Mazurier C., Goudemand M., van Halbeek H., Vliegenthart J.F.G., Montreuil J.Eur. J. Biochem. 158:295-298(1986)
The acidic region of the factor VIII light chain and the C2 domain together form the high affinity binding site for von Willebrand factor.Saenko E.L., Scandella D.J. Biol. Chem. 272:18007-18014(1997)
Screening for N-glycosylated proteins by liquid chromatography mass spectrometry.Bunkenborg J., Pilch B.J., Podtelejnikov A.V., Wisniewski J.R.Proteomics 4:454-465(2004)
Tryptic digestion of ubiquitin standards reveals an improved strategy for identifying ubiquitinated proteins by mass spectrometry.Denis N.J., Vasilescu J., Lambert J.-P., Smith J.C., Figeys D.Proteomics 7:868-874(2007)
Glycoproteomics analysis of human liver tissue by combination of multiple enzyme digestion and hydrazide chemistry.Chen R., Jiang X., Sun D., Han G., Wang F., Ye M., Wang L., Zou H.J. Proteome Res. 8:651-661(2009)
A strategy for precise and large scale identification of core fucosylated glycoproteins.Jia W., Lu Z., Fu Y., Wang H.P., Wang L.H., Chi H., Yuan Z.F., Zheng Z.B., Song L.N., Han H.H., Liang Y.M., Wang J.L., Cai Y., Zhang Y.K., Deng Y.L., Ying W.T., He S.M., Qian X.H.Mol. Cell. Proteomics 8:913-923(2009)
Crystal structure of the von Willebrand factor A1 domain and implications for the binding of platelet glycoprotein Ib.Emsley J., Cruz M., Handin R., Liddington R.J. Biol. Chem. 273:10396-10401(1998)
Crystal structure of the A3 domain of human von Willebrand factor
implications for collagen binding.Huizinga E.G., Martijn van der Plas R., Kroon J., Sixma J.J., Gros P.Structure 5:1147-1156(1997)
The von Willebrand factor A3 domain does not contain a metal ion-dependent adhesion site motif.Bienkowska J., Cruz M., Atiemo A., Handin R., Liddington R.J. Biol. Chem. 272:25162-25167(1997)
von Willebrand factor, platelets and endothelial cell interactions.Ruggeri Z.M.J. Thromb. Haemost. 1:1335-1342(2003)
Molecular basis of human von Willebrand disease
analysis of platelet von Willebrand factor mRNA.Ginsburg D., Konkle B.A., Gill J.C., Montgomery R.R., Bockenstedt P.L., Johnson T.A., Yang A.Y.Proc. Natl. Acad. Sci. U.S.A. 86:3723-3727(1989)
Analysis of the relationship of von Willebrand disease (vWD)
and hereditary hemorrhagic telangiectasia and identification of a potential type IIA vWD mutation (IIe865 to Thr)
.Iannuzzi M.C., Hidaka N., Boehnke M., Bruck M.E., Hanna W.T., Collins F.S., Ginsburg D.Am. J. Hum. Genet. 48:757-763(1991)
Identification of two point mutations in the von Willebrand factor gene of three families with the 'Normandy' variant of von Willebrand disease.Gaucher C., Mercier B., Jorieux S., Oufkir D., Mazurier C.Br. J. Haematol. 78:506-514(1991)
An Arg545-->Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease.Donner M., Andersson A.-M., Kristoffersson A.-C., Nilsson I.M., Dahlback B., Holmberg L.Eur. J. Haematol. 47:342-345(1991)
Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.Randi A.M., Rabinowitz I., Mancuso D.J., Mannucci P.M., Sadler J.E.J. Clin. Invest. 87:1220-1226(1991)
The molecular defect in type IIB von Willebrand disease. Identification of four potential missense mutations within the putative GpIb binding domain.Cooney K.A., Nichols W.C., Bruck M.E., Bahou W.F., Shapiro A.D., Bowie E.J.W., Gralnick H.R., Ginsburg D.J. Clin. Invest. 87:1227-1233(1991)
Identification of a point mutation in type IIB von Willebrand disease illustrating the regulation of von Willebrand factor affinity for the platelet membrane glycoprotein Ib-IX receptor.Ware J., Dent J.A., Azuma H., Sugimoto M., Kyrle P.A., Yoshioka A., Ruggeri Z.M.Proc. Natl. Acad. Sci. U.S.A. 88:2946-2950(1991)
Expression of von Willebrand factor 'Normandy'
an autosomal mutation that mimics hemophilia A.Tuley E.A., Gaucher C., Jorieux S., Worrall N.K., Sadler J.E., Mazurier C.Proc. Natl. Acad. Sci. U.S.A. 88:6377-6381(1991)
Germ-line mosaicism for a valine-to-methionine substitution at residue 553 in the glycoprotein Ib-binding domain of von Willebrand factor, causing type IIB von Willebrand disease.Murray E.W., Giles A.R., Lillicrap D.Am. J. Hum. Genet. 50:199-207(1992)
Molecular study of von Willebrand disease
identification of potential mutations in patients with type IIA and type IIB.Pietu G., Ribba A.S., de Paillette L., Cherel G., Lavergne J.-M., Bahnak B.R., Meyer D.Blood Coagul. Fibrinolysis 3:415-421(1992)
Type IIB von Willebrand's disease
gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.Donner M., Kristoffersson A.-C., Lenk H., Scheibel E., Dahlback B., Nilsson I.M., Holmberg L.Br. J. Haematol. 82:58-65(1992)
Defects in type IIA von Willebrand disease
a cysteine 509 to arginine substitution in the mature von Willebrand factor disrupts a disulphide loop involved in the interaction with platelet glycoprotein Ib-IX.Lavergne J.-M., de Paillette L., Bahnak B.R., Ribba A.-S., Fressinaud E., Meyer D., Pietu G.Br. J. Haematol. 82:66-72(1992)
Characterization of recombinant von Willebrand factor corresponding to mutations in type IIA and type IIB von Willebrand disease.Ribba A.S., Voorberg J., Meyer D., Pannekoek H., Pietu G.J. Biol. Chem. 267:23209-23215(1992)
von Willebrand disease type B
a missense mutation selectively abolishes ristocetin-induced von Willebrand factor binding to platelet glycoprotein Ib.Rabinowitz I., Tuley E.A., Mancuso D.J., Randi A.M., Firkin B.G., Howard M.A., Sadler J.E.Proc. Natl. Acad. Sci. U.S.A. 89:9846-9849(1992)
Identification of three candidate mutations causing type IIA von Willebrand disease using a rapid, nonradioactive, allele-specific hybridization method.Inbal A., Englender T., Kornbrot N., Randi A.M., Castaman G., Mannucci P.M., Sadler J.E.Blood 82:830-836(1993)
Substitution of cysteine for phenylalanine 751 in mature von Willebrand factor is a novel candidate mutation in a family with type IIA von Willebrand disease.Gaucher C., Hanss M., Dechavanne M., Mazurier C.Br. J. Haematol. 83:94-99(1993)
Two new candidate mutations in type IIA von Willebrand's disease (Arg834-->Gly, Gly846-->Arg)
and one polymorphism (Tyr821-->Cys)
in the A2 region of the von Willebrand factor.Donner M., Kristoffersson A.C., Berntorp E., Scheibel E., Thorsen S., Dahlback B., Nilsson I.M., Holmberg L.Eur. J. Haematol. 51:38-44(1993)
Type IIB mutation His-505-->Asp implicates a new segment in the control of von Willebrand factor binding to platelet glycoprotein Ib.Rabinowitz I., Randi A.M., Shindler K.S., Tuley E.A., Rustagi P.K., Sadler J.E.J. Biol. Chem. 268:20497-20501(1993)
von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.Holmberg L., Dent J.A., Schneppenheim R., Budde U., Ware J., Ruggeri Z.M.J. Clin. Invest. 91:2169-2177(1993)
Leu 697-->Val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.Hilbert L., Gaucher C., de Romeuf C., Horellou M.H., Vink T., Mazurier C.Blood 83:1542-1550(1994)
Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.Lyons S.E., Cooney K.A., Bockenstedt P., Ginsburg D.Blood 83:1551-1557(1994)
Characterization of the von Willebrand factor gene (VWF)
in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.Zhang Z.P., Blombaeck M., Egberg N., Falk G., Anvret M.Genomics 21:188-193(1994)
Genetic heterogeneity of severe von Willebrand disease type III in the German population.Schneppenheim R., Krey S., Bergmann F., Bock D., Budde U., Lange M., Linde R., Mittler U., Meili E., Mertes G., Olek K., Plendl H., Simeoni E.Hum. Genet. 94:640-652(1994)
Investigation of type IIC von Willebrand disease.Uno H., Nishida N., Ishizaki J., Suzuki M., Nishikubo T., Miyata S., Takahashi Y., Yoshioka A., Tsuda K.Int. J. Hematol. 59:219-225(1994)
Identification of two mutations (Arg611Cys and Arg611His)
in the A1 loop of von Willebrand factor (vWF)
responsible for type 2 von Willebrand disease with decreased platelet-dependent function of vWF.Hilbert L., Gaucher C., Mazurier C.Blood 86:1010-1018(1995)
A novel candidate mutation (Arg611-->His)
in type I 'platelet discordant' von Willebrand's disease with desmopressin-induced thrombocytopenia.Castaman G., Eikenboom C.J.C., Rodeghiero F., Briet K., Reitsma P.H.Br. J. Haematol. 89:656-658(1995)
Effects of different amino-acid substitutions in the leucine 694-proline 708 segment of recombinant von Willebrand factor.Hilbert L., Gaucher C., Mazurier C.Br. J. Haematol. 91:983-990(1995)
Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.Schneppenheim R., Thomas K.B., Krey S., Budde U., Jessat U., Sutor A.H., Zeiger B.Hum. Genet. 95:681-686(1995)
Defective dimerization of von Willebrand factor subunits due to a Cys-> Arg mutation in type IID von Willebrand disease.Schneppenheim R., Brassard J., Krey S., Budde U., Kunicki T.J., Holmberg L., Ware J., Ruggeri Z.M.Proc. Natl. Acad. Sci. U.S.A. 93:3581-3586(1996)
A novel von Willebrand disease-causing mutation (Arg273Trp)
in the von Willebrand factor propeptide that results in defective multimerization and secretion.Allen S., Abuzenadah A.M., Hinks J., Blagg J.L., Gursel T., Ingerslev J., Goodeve A.C., Peake I.R., Daly M.E.Blood 96:560-568(2000)
Type 1 von Willebrand disease mutation Cys1149Arg causes intracellular retention and degradation of heterodimers
a possible general mechanism for dominant mutations of oligomeric proteins.Bodo I., Katsumi A., Tuley E.A., Eikenboom J.C., Dong Z., Sadler J.E.Blood 98:2973-2979(2001)
Factor VIII deficiency not induced by FVIII gene mutation in a female first cousin of two brothers with haemophilia A.Mazurier C., Parquet-Gernez A., Gaucher C., Lavergne J.-M., Goudemand J.Br. J. Haematol. 119:390-392(2002)
The prevalence of the cysteine1584 variant of von Willebrand factor is increased in type 1 von Willebrand disease
co-segregation with increased susceptibility to ADAMTS13 proteolysis but not clinical phenotype.Bowen D.J., Collins P.W., Lester W., Cumming A.M., Keeney S., Grundy P., Enayat S.M., Bolton-Maggs P.H., Keeling D.M., Khair K., Tait R.C., Wilde J.T., Pasi K.J., Hill F.G.Br. J. Haematol. 128:830-836(2005)
The consensus coding sequences of human breast and colorectal cancers.Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., Velculescu V.E.Science 314:268-274(2006)
C1272F
a novel type 2A von Willebrand's disease mutation in A1 domain; its clinical significance.Woods A.I., Sanchez-Luceros A., Kempfer A.C., Powazniak Y., Calderazzo Pereyra J.C., Blanco A.N., Meschengieser S.S., Lazzari M.A.Haemophilia 18:112-116(2012)
+Additional computationally mapped references.<p>Provides general information on the entry.
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