| 1 | RGS4, VWF
|
| RGS4 controls secretion of von Willebrand factor to the subendothelial matrix
|
| Patella F, Cutler DF.
|
| J Cell Sci. Jul 24;133(14):jcs247312. doi: 10.1242/jcs.247312. 2020
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| 2 | ADAMTS13, VWF
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| Keeping von Willebrand Factor under Control: Alternatives for ADAMTS13.
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| Tersteeg C, Fijnheer R, Pasterkamp G, de Groot PG, Vanhoorelbeke K, de Maat S, Maas C.
|
| Semin Thromb Hemost 42(1):9-17. doi: 10.1055/s-0035-1564838. Review.
2016
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| 3 | F8, VWF
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| von Willebrand factor binds to the surface of dendritic cells and modulates peptide presentation of factor VIII.
|
| Sorvillo N, Hartholt RB, Bloem E, Sedek M, ten Brinke A, van der Zwaan C, van Alphen FP, Meijer AB, Voorberg J.
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| Haematologica 101(3):309-18. doi: 10.3324/haematol.2015.137067.
2016
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| 4 | ADAMTS13, VWF
|
| The expression of ADAMTS13 in human microvascular endothelial cells.
|
| Wang A, Duan Q, Wu J, Liu X, Sun Z.
|
| Blood Coagul Fibrinolysis 27(4):464-6. doi: 10.1097/MBC.0000000000000405.
2016
|
| 5 | VWF
|
| Regulation of VWF expression, and secretion in health and disease.
|
| Xiang Y, Hwa J.
|
| Curr Opin Hematol 23(3):288-93. doi: 10.1097/MOH.0000000000000230. Review.
2016
|
| 6 | F8, VWF
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| Factor VIII Is Synthesized in Human Endothelial Cells, Packaged in Weibel-Palade Bodies and Secreted Bound to ULVWF Strings.
|
| Turner NA, Moake JL.
|
| PLoS One 10(10):e0140740. doi: 10.1371/journal.pone.0140740.
2015
|
| 7 | F8, F8D, VWF
|
| Interaction between VWF and FVIII in treating VWD.
|
| Miesbach W, Berntorp E.
|
| Eur J Haematol 95(5):449-54. doi: 10.1111/ejh.12514. Review.
2015
|
| 8 | ADAMTS13, VWF
|
| Massively parallel enzyme kinetics reveals the substrate recognition landscape of the metalloprotease ADAMTS13.
|
| Kretz CA, Dai M, Soylemez O, Yee A, Desch KC, Siemieniak D, Tomberg K, Kondrashov FA, Meng F, Ginsburg D.
|
| Proc Natl Acad Sci U S A 112(30):9328-33. doi: 10.1073/pnas.1511328112.
2015
|
| 9 | ADAMTS13, VWF
|
| Probing ADAMTS13 substrate specificity using phage display.
|
| Desch KC, Kretz C, Yee A, Gildersleeve R, Metzger K, Agrawal N, Cheng J, Ginsburg D.
|
| PLoS One 10(4):e0122931. doi: 10.1371/journal.pone.0122931.
2015
|
| 10 | ADAMTS13, VWF
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| The role of the ADAMTS13 cysteine-rich domain in VWF binding and proteolysis.
|
| de Groot R, Lane DA, Crawley JT.
|
| Blood 125(12):1968-75. doi: 10.1182/blood-2014-08-594556.
2015
|
| 11 | GNA12, VWF
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| G protein-dependent basal and evoked endothelial cell vWF secretion.
|
| Rusu L, Andreeva A, Visintine DJ, Kim K, Vogel SM, Stojanovic-Terpo A, Chernaya O, Liu G, Bakhshi FR, Haberichter SL, Iwanari H, Kusano-Arai O, Suzuki N, Hamakubo T, Kozasa T, Cho J, Du X, Minshall RD.
|
| Blood 123(3):442-50. doi: 10.1182/blood-2013-03-489351. Epub 2013 Sep 30.
2014
|
| 12 | ADAMTS13, VWF
|
| Allosteric activation of ADAMTS13 by von Willebrand factor.
|
| Muia J, Zhu J, Gupta G, Haberichter SL, Friedman KD, Feys HB, Deforche L, Vanhoorelbeke K, Westfield LA, Roth R, Tolia NH, Heuser JE, Sadler JE.
|
| Proc Natl Acad Sci U S A 111(52):18584-9. doi: 10.1073/pnas.1413282112.
2014
|
| 13 | ADAMTS13, VWF
|
| The potential therapeutic benefit of targeting ADAMTS13 activity.
|
| Eerenberg ES, Levi M.
|
| Semin Thromb Hemost 40(1):28-33. doi: 10.1055/s-0033-1363156. Review.
2014
|
| 14 | ADAMTS13, VWF
|
| The WXXW motif in the TSR1 of ADAMTS13 is important for its secretion and proteolytic activity.
|
| Ling J, Su J, Ma Z, Ruan C.
|
| Thromb Res 131(6):529-34. doi: 10.1016/j.thromres.2013.04.024.
2013
|
| 15 | ADAMTS13, VWF
|
| Increased VWF antigen levels and decreased ADAMTS13 activity in preeclampsia.
|
| Aref S, Goda H.
|
| Hematology 18(4):237-41. doi: 10.1179/1607845412Y.0000000070.
2013
|
| 16 | VWF
|
| Von Willebrand factor (VWF) as a risk factor for bleeding and thrombosis.
|
| Lazzari MA, Sanchez-Luceros A, Woods AI, Alberto MF, Meschengieser SS.
|
| Hematology 17 Suppl 1:S150-2.
2012
|
| 17 | VWF
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| von Willebrand factor (VWF) propeptide binding to VWF D'D3 domain attenuates platelet activation and adhesion.
|
| Madabhushi SR, Shang C, Dayananda KM, Rittenhouse-Olson K, Murphy M, Ryan TE, Montgomery RR, Neelamegham S.
|
| Blood 119(20):4769-78. Epub 2012 Mar 27.
2012
|
| 18 | VWF
|
| Calcium stabilizes the von Willebrand factor A2 domain by promoting refolding.
|
| Xu AJ, Springer TA.
|
| Proc Natl Acad Sci U S A 109(10):3742-7. Epub 2012 Feb 22.
2012
|
| 19 | VWF
|
| Modulation of the von Willebrand factor-dependent platelet adhesion through alternative proteolytic pathways.
|
| Wohner N, Kovács A, Machovich R, Kolev K.
|
| Thromb Res 129(4):e41-6. Epub 2011 Dec 15.
2012
|
| 20 | ADAMTS13, F8, VWF
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| Light chain of factor VIII is sufficient for accelerating cleavage of von Willebrand factor by ADAMTS13 metalloprotease.
|
| Cao W, Sabatino DE, Altynova E, Lange AM, Casina VC, Camire RM, Zheng XL.
|
| J Biol Chem 287(39):32459-66. 2012
|
| 21 | ADAMTS13, VWF
|
| A novel calcium-binding site of von Willebrand factor A2 domain regulates its cleavage by ADAMTS13.
|
| Zhou M, Dong X, Baldauf C, Chen H, Zhou Y, Springer TA, Luo X, Zhong C, Gräter F, Ding J.
|
| Blood 117(17):4623-31. Epub 2011 Mar 8. 2011
|
| 22 | VWF
|
| Shear stress-induced unfolding of VWF accelerates oxidation of key methionine residues in the A1A2A3 region.
|
| Fu X, Chen J, Gallagher R, Zheng Y, Chung DW, López JA.
|
| Blood 118(19):5283-91. Epub 2011 Sep 13.
2011
|
| 23 | VWF
|
| Cleavage of von Willebrand factor by granzyme M destroys its factor VIII binding capacity.
|
| Hollestelle MJ, Lai KW, van Deuren M, Lenting PJ, de Groot PG, Sprong T, Bovenschen N.
|
| PLoS One 6(9):e24216. Epub 2011 Sep 1.
2011
|
| 24 | VWF
|
| Role of von Willebrand factor in the haemostasis.
|
| Peyvandi F, Garagiola I, Baronciani L.
|
| Blood Transfus 9 Suppl 2:s3-8. doi: 10.2450/2011.002S. Review. No abstract available.
2011
|
| 25 | VWF
|
| Endothelial von Willebrand factor regulates angiogenesis.
|
| Starke RD, Ferraro F, Paschalaki KE, Dryden NH, McKinnon TA, Sutton RE, Payne EM, Haskard DO, Hughes AD, Cutler DF, Laffan MA, Randi AM.
|
| Blood 117(3):1071-80. Epub 2010 Nov 3.
2011
|
| 26 | VWF
|
| von Willebrand factor-mediated platelet adhesion is critical for deep vein thrombosis in mouse models.
|
| Brill A, Fuchs TA, Chauhan AK, Yang JJ, De Meyer SF, Köllnberger M, Wakefield TW, Lämmle B, Massberg S, Wagner DD.
|
| Blood 117(4):1400-7. Epub 2010 Oct 19.
2011
|
| 27 | ADAMTS13, VWF
|
| Unraveling the scissile bond: how ADAMTS13 recognizes and cleaves von Willebrand factor.
|
| Crawley JT, de Groot R, Xiang Y, Luken BM, Lane DA.
|
| Blood 118(12):3212-21. Epub 2011 Jun 29. Review.
2011
|
| 28 | VWF
|
| Alterations of mRNA processing and stability as a pathogenic mechanism in von Willebrand factor quantitative deficiencies.
|
| Castaman G, Platč M, Giacomelli SH, Rodeghiero F, Duga S.
|
| J Thromb Haemost 8(12):2736-42. doi: 10.1111/j.1538-7836.2010.04060.x.
2010
|
| 29 | ADAMTS13, THBS1, VWF
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| Thrombospondin-1 and ADAMTS13 competitively bind to VWF A2 and A3 domains in vitro.
|
| Wang A, Liu F, Dong N, Ma Z, Zhang J, Su J, Zhao Y, Ruan C.
|
| Thromb Res 126(4):e260-5. Epub 2010 Aug 11.
2010
|
| 30 | PLD1, VWF
|
| Phospholipase D1 is specifically required for regulated secretion of von Willebrand factor from endothelial cells.
|
| Disse J, Vitale N, Bader MF, Gerke V.
|
| Blood 113(4):973-80. doi: 10.1182/blood-2008-06-165282. Epub 2008 Oct 22.
2009
|
| 31 | F8, F8D, VWF
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| The role of VWF in the immunogenicity of FVIII.
|
| Lacroix-Desmazes S, Repessé Y, Kaveri SV, Dasgupta S.
|
| Thromb Res 122 Suppl 2:S3-6. Review. 2008
|
| 32 | ANO2, VWF
|
| A common 253-kb deletion involving VWF and TMEM16B in German and Italian patients with severe von Willebrand disease type 3.
|
| Schneppenheim R, Castaman G, Federici AB, Kreuz W, Marschalek R, Oldenburg J, Oyen F, Budde U.
|
| J Thromb Haemost 5(4):722-8. Epub 2007 Feb 26.
2007
|
| 33 | VWF, ADAMTS13
|
| Characterization of a core binding site for ADAMTS-13 in the A2 domain of von Willebrand factor.
|
| Wu JJ, Fujikawa K, McMullen BA, Chung DW.
|
| Proc Natl Acad Sci U S A 103(49):18470-4. Epub 2006 Nov 22. 2006
|
| 34 | VWF, ADAMTS13
|
| Molecular mapping of the chloride-binding site in von Willebrand factor (VWF): energetics and conformational effects on the VWF/ADAMTS-13 interaction.
|
| De Cristofaro R, Peyvandi F, Baronciani L, Palla R, Lavoretano S, Lombardi R, Di Stasio E, Federici AB, Mannucci PM.
|
| J Biol Chem 281(41):30400-11. Epub 2006 Aug 9. 2006
|
| 35 | F8, F8D, VWF
|
| Haemophilia A: from mutation analysis to new therapies.
|
| Graw J, Brackmann HH, Oldenburg J, Schneppenheim R, Spannagl M, Schwaab R.
|
| Nat Rev Genet 6(6):488-501. 2005
|
| 36 | ADAMTS13, VWF
|
| The proximal carboxyl-terminal domains of ADAMTS13 determine substrate specificity and are all required for cleavage of von Willebrand factor.
|
| Ai J, Smith P, Wang S, Zhang P, Zheng XL.
|
| J Biol Chem 280(33):29428-34. Epub 2005 Jun 23. 2005
|
| 37 | ADAMTS13, GP1BA, VWF
|
| Binding of platelet glycoprotein Ibalpha to von Willebrand factor domain A1 stimulates the cleavage of the adjacent domain A2 by ADAMTS13.
|
| Nishio K, Anderson PJ, Zheng XL, Sadler JE.
|
| Proc Natl Acad Sci U S A 101(29):10578-83. Epub 2004 Jul 12. 2004
|
| 38 | ADAMTS13, VWF
|
| ADAMTS-13 metalloprotease interacts with the endothelial cell-derived ultra-large von Willebrand factor.
|
| Dong JF, Moake JL, Bernardo A, Fujikawa K, Ball C, Nolasco L, Lopez JA, Cruz MA.
|
| J Biol Chem 278(32):29633-9. Epub 2003 May 29. 2003
|
| 39 | VWF
|
| Mapping the collagen-binding site in the von Willebrand factor-A3 domain.
|
| Romijn RA, Westein E, Bouma B, Schiphorst ME, Sixma JJ, Lenting PJ, Huizinga EG.
|
| J Biol Chem 278(17):15035-9. Epub 2003 Feb 11. 2003
|
| 40 | VWF
|
| Two novel type 2N von Willebrand disease-causing mutations that result in defective factor VIII binding, multimerization, and secretion of von Willebrand factor.
|
| Allen S, Abuzenadah AM, Blagg JL, Hinks J, Nesbitt IM, Goodeve AC, Gursel T, Ingerslev J, Peake IR, Daly ME.
|
| Blood 95(6):2000-7. 2000
|
| 41 | VWF
|
| Identification of a new candidate mutation, G1629R, in a family with type 2A von Willebrand disease.
|
| Casana P, et al.
|
| Am J Hematol 60(4):309-10. 1999
|
| 42 | VWF
|
| Identification of new type 2B von Willebrand disease mutations : Arg543Gln, Arg545Pro and Arg578Leu.
|
| Hilbert L, et al.
|
| Br J Haematol 103 : 877-884. 1998
|
| 43 | VWF
|
| A novel mutation in the D3 domain of von Willebrand factor markedly decreases its ability to bind factor VIII and affects its multimerization.
|
| Jorieux S, et al.
|
| Blood 92 : 4663-4670. 1998
|
| 44 | VWF
|
| A type 2b von Willebrand disease mutation (Ile546-->Val) associated with an unusual phenotype.
|
| Federici AB, Mannucci PM, Stabile F, Canciani MT, Di Rocco N, Miyata S, Ware J, Ruggeri ZM.
|
| Thromb Haemost 78(3):1132-7. 1997
|
| 45 | ATN1, VWF, PTHLH
|
| Precise chromosomal locations of the genes for dentatorubral-pallidoluysian atrophy (DRPLA), von Willebrand factor (F8vWF) and parathyroid hormone-like hormone (PTHLH) in human chromosome 12p by deletion mapping.
|
| Kuwano A, et al.
|
| Hum Genet 97 : 95-98. 1996
|
| 46 | VWF
|
| A novel mutation (Leu817Pro) causing type 2A von Willebrand disease.
|
| Gemmati D, et al.
|
| Br J Haematol 92 : 241-243. 1996
|
| 47 | VWF
|
| A novel mutation Gly1672-Arg in type 2A and a homozygous mutation in type 2B von Willebrand disease.
|
| Hagiwara T, et al.
|
| Thromb Haemost 76 : 253-257. 1996
|
| 48 | VWF
|
| Effects of the mutant von Willebrand factor gene in von Willebrand disease.
|
| Zhang Z, et al.
|
| Hum Genet 96 : 388-394. 1995
|
| 49 | APLP2, CAMK2B, CPB1, ENO1, VWF, GLS, ITPKC, LONP1, MTFN, PDE2A, PPP2R2A, MAP2K1L, RAB5B, SCN2A, TST
|
| Toward a cDNA map of the human genome.
|
| Korenberg JR, et al.
|
| Genomics 29 : 364-370. 1995
|
| 50 | VWF
|
| Identification of a candidate missense mutation in a family with von Willebrand disease type IIC.
|
| Schneppenheim R, et al.
|
| Hum Genet 95 : 681-686. 1995
|
| 51 | VWF
|
| 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, et al.
|
| Blood 86 : 1010-1018. 1995
|
| 52 | VWF
|
| A novel case of compound heterozygosity with Normandy/type I von Willebrand disease (vWD). Direct demonstration of the segregation of one allele with a defective expression at the mRNA level causing type I vWD.
|
| Siguret V, et al.
|
| Hum Genet 93 : 95-102. 1994
|
| 53 | VWF, MUC2
|
| Molecular cloning of human intestinal mucin (MUC2) cDNA. Identification of the amino terminus and overall sequence similarity to prepro-von Willebrand factor.
|
| Gum JR, et al.
|
| J Biol Chem 269 : 2440-2446. 1994
|
| 54 | VWF
|
| Multiple substitutions in the von Willebrand factor gene that mimic the pseudogene sequence.
|
| Eikenboom JCJ, et al.
|
| Proc Natl Acad Sci U S A 91 : 2221-2224. 1994
|
| 55 | VWF
|
| Characterization of the von Willebrand factor gene (VWF) in von Willebrand disease type III patients from 24 families of Swedish and Finnish origin.
|
| Zhang ZP, et al.
|
| Genomics 21 : 188-193. 1994
|
| 56 | VWF
|
| Leu 697- val mutation in mature von Willebrand factor is responsible for type IIB von Willebrand disease.
|
| Hilbert L, et al.
|
| Blood 83 : 1542-1550. 1994
|
| 57 | VWF
|
| Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations.
|
| Lyons SE, et al.
|
| Blood 83 : 1551-1557. 1994
|
| 58 | VWF
|
| Linkage disequilibrium patterns vary with chromosomal location : A case study from the von Willebrand factor region.
|
| Watkins WS, et al.
|
| Am J Hum Genet 55 : 348-355. 1994
|
| 59 | VWF
|
| Genetic heterogeneity of severe von Willebrand disease type III in the German population.
|
| Schneppenheim R, et al.
|
| Hum Genet 94 : 640-652. 1994
|
| 60 | VWF
|
| A G+3-to-T donor splice site mutation leads to skipping of exon 50 in Von Willebrand factor mRNA.
|
| Mertes G, et al.
|
| Genomics 24 : 190-191. 1994
|
| 61 | VWF
|
| A de novo mutation in exon 28 of the von Willebrand factor gene in a patient with type IIA von Willebrand's disease coincides with an Mbol polymorphism in the von Willebrand factor pseudogene.
|
| Prez-Casal M, et al.
|
| Hum Mol Genet 2 : 2159-2161. 1993
|
| 62 | VWF
|
| In-frame deletion of von Willebrand factor A domains in a dominant type of von Willebrand disease.
|
| Bernardi F, et al.
|
| Hum Mol Genet 2 : 545-548. 1993
|
| 63 | VWF
|
| von Willebrand factor mutation enhancing interaction with platelets in patients with normal multimeric structure.
|
| Holmberg L, et al.
|
| J Clin Invest 91 : 2169-2177. 1993
|
| 64 | VWF
|
| 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, et al.
|
| Br J Haematol 83 : 94-99. 1993
|
| 65 | VWF
|
| A database of polymorphisms in the von Willebrand factor gene and pseudogene. For the consortium on von Willebrand factor mutations and polymorphisms and the subcommittee on von Willebrand factor of the scientific and standardization committee of the international society on thrombosis and haemostasis.
|
| Sadler JE, et al.
|
| Thromb Haemost 69 : 185-191. 1993
|
| 66 | VWF
|
| 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 EW, et al.
|
| Am J Hum Genet 50 : 199-207. 1992
|
| 67 | VWF
|
| The mutation Arg (53)-Trp causes von Willebrand disease Normandy by abolishing binding to factor VIII. Studies with recombinant von Willebrand factor.
|
| Jorieux S, et al.
|
| Blood 79 : 563-567. 1992
|
| 68 | VWF
|
| Identification of a new nonsense mutation in the von Willebrand factor gene in patients with von Willebrand disease type III.
|
| Zhang ZP, et al.
|
| Hum Mol Genet 1 : 61-62. 1992
|
| 69 | VWF
|
| A patient with von Willebrand's disease characterized by a compound heterozygosity for a substitution of Arg854 by Gln in the putative factor-VIII-binding domain of von Willebrand factor (vWF) on one allele and very low levels of mRNA from the second vWF allele.
|
| Peerlinck K, et al.
|
| Br J Haematol 80 : 358-363. 1992
|
| 70 | VWF
|
| Genetic and blood coagulation characterization of Swedish families with von Willebrand's disease types I and III : new aspects of heredity.
|
| Anvret M, et al.
|
| Hum Genet 89 : 147-154. 1992
|
| 71 | VWF
|
| Polymerase chain reaction amplification of two polymorphic simple repeat sequences within the von Willebrand factor gene: application to family studies in von Willebrand disease.
|
| Cumming AM, et al.
|
| Hum Genet 89 : 194-198. 1992
|
| 72 | VWF
|
| Molecular genetics of von Willebrand disease.
|
| Ginsburg D, et al.
|
| Blood 79 : 2507-2519. 1992
|
| 73 | VWF
|
| A further tetranucleotide repeat polymorphism in the vWF gene.
|
| Kimpton C, et al.
|
| Hum Mol Genet 1 : 287. 1992
|
| 74 | VWF
|
| Nonsense mutations of the von Willebrand factor gene in patients with von Willebrand disease type III and type I.
|
| Zhang ZP, et al.
|
| Am J Hum Genet 51 : 850-858. 1992
|
| 75 | VWF
|
| A single cytosine deletion in exon 18 of the von Willebrand factor gene is the most common mutation in Swedish vWD type III patients.
|
| Zhang ZP, et al.
|
| Hum Mol Genet 1 : 767-768. 1992
|
| 76 | VWF
|
| Dinucleotide repeat polymorphism in the promoter region of the human von Willebrand factor gene (vWF gene).
|
| Zhang ZP, et al.
|
| Hum Mol Genet 1 : 780. 1992
|
| 77 | VWF
|
| Type IIB von Willebrand's disease : gene mutations and clinical presentation in nine families from Denmark, Germany and Sweden.
|
| Donne M, et al.
|
| Br J Haematol 82 : 58-65. 1992
|
| 78 | VWF
|
| Expressed full-length von Willebrand factor containing missense mutations linked to type IIB von Willebrand disease shows enhanced binding to platelets.
|
| Kroner PA, et al.
|
| Blood 79 : 2048-2055. 1992
|
| 79 | VWF
|
| 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 JM, et al.
|
| Br J Haematol 82 : 66-72. 1992
|
| 80 | VWF
|
| Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations.
|
| Lyons SE, et al.
|
| J Biol Chem 267 : 4424-4430. 1992
|
| 81 | VWF
|
| 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, et al.
|
| Proc Natl Acad Sci U S A 88 : 2946-2950. 1991
|
| 82 | VWF
|
| The Normandy variant of von Willebrand disease : Characterization of a point mutation in the von Willebrand factor gene.
|
| Gaucher C, et al.
|
| Blood 77 : 1937-1941. 1991
|
| 83 | VWF
|
| Expression of von Willebrand factor Normandy : an autosomal mutation that mimics hemophilia A.
|
| Tuley EA, et al.
|
| Proc Natl Acad Sci U S A 88 : 6377-6381. 1991
|
| 84 | VWF
|
| Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression : detection by exonic PCR-restriction fragment length polymorphism analysis.
|
| Nichols WC, et al.
|
| Proc Natl Acad Sci U S A 88 : 3857-3861. 1991
|
| 85 | VWF
|
| AatII polymorphism in von Willebrand factor gene at codon 471.
|
| Bowen DJ, et al.
|
| Nucleic Acids Res 19 : 3159. 1991
|
| 86 | VWF
|
| SmaI and HhaI polymorphisms in the 5' region of the human von Willebrand factor gene (F8VWF).
|
| Strain L, et al.
|
| Nucleic Acids Res 19 : 4017. 1991
|
| 87 | VWF
|
| Molecular characterization of a unique von Willebrand disease variant. A novel mutation affecting von Willebrand factor/factor VIII interaction.
|
| Cacheris PM, et al.
|
| J Biol Chem 266 : 13499-13502. 1991
|
| 88 | VWF
|
| A stop codon in a patient with severe type III von Willebrand disease.
|
| Bahnak BR, et al.
|
| Blood 78 : 1148-1149. 1991
|
| 89 | VWF
|
| Characterisation of 98 alleles in 105 unrelated individuals in the F8VWF gene.
|
| Mercier B, et al.
|
| Nucleic Acids Res 19 : 4800. 1991
|
| 90 | VWF
|
| Duplication of a methionine within the glycoprotein 1b binding domain of von Willebrand factor detected by denaturing gradient gel electrophoresis in a patient with type IIB von Willebrand disease.
|
| Ribba AS, et al.
|
| Blood 78 : 1738-1743. 1991
|
| 91 | VWF
|
| Abnormal binding of factor VIII is linked with the substitution of glutamine for arginine 91 in von Willebrand factor in a variant form of von Willebrand disease.
|
| Kroner PA, et al.
|
| J Biol Chem 266 : 19146-19149. 1991
|
| 92 | VWF
|
| Recurring mutations at CpG dinucleotides in the region of the von Willebrand factor gene encoding the glycoprotein Ib binding domain, in patients with type IIB von Willebrand's disease.
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| Lillicrap D, et al.
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| Br J Haematol 79 : 612-617. 1991
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| 93 | VWF
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| Cosegregation of von Willebrand factor gene polymorphisms and possible germinal mosaicism in type IIB von Willebrand disease.
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| Murray EW, et al.
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| Blood 77 : 1476-1483. 1991
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| 94 | VWF
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| Severe type III von Willebrand's disease caused by deletion of exon 42 of the von Willebrand factor gene: family studies that identify carriers of the condition and a compound heterozygous individual.
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| Peake IR, et al.
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| Blood 75 : 654-661. 1991
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| 95 | VWF
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| An Arg545-Cys545 substitution mutation of the von Willebrand factor in type IIB von Willebrand's disease.
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| Eur J Haematol 47 : 342-345. 1991
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| 96 | VWF
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| Human von Willebrand factor gene and pseudogene : structural analysis and differentiation by polymerase chain reaction.
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| Mancuso DJ, et al.
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| Biochemistry 30 : 253-269. 1991
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| 97 | VWF
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| Molecular basis of von Willebrand disease type IIB. Candidate mutations cluster in one disulfide loop between proposed platelet glycoprotein Ib binding sequences.
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| J Clin Invest 87 : 1220-1226. 1991
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| 98 | VWF
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| The molecular defect in type IIB von Willebrand disease.
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| J Clin Invest 87 : 1227-1233. 1991
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| 99 | VWF
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| 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).
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| Iannuzzi MC, et al.
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| Am J Hum Genet 48 : 757-763. 1991
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| 100 | VWF
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| AccI polymorphism in von Willebrand factor (F8VWF) at codon 516.
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| Kunkel GR, et al.
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| Nucleic Acids Res 19 : 1729. 1991
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| 101 | VWF
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| Family studies and prenatal diagnosis in severe von Willebrand disease by polymerase chain reaction amplification of a variable number tandem repeat region of the von Willebrand factor gene.
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| Blood 76 : 555-561. 1990
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| 102 | VWF
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| A de novo and heterozygous gene deletion causing a variant of von Willebrand disease.
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| Blood 75 : 677-683. 1990
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| 103 | VWF
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| StuI polymorphisms in the vWF gene.
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| Nucleic Acids Res 18 : 4959 1990
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| 104 | VWF
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| A KpnI DNA polymorphism in the human von Willebrand factor (VWF) gene.
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| Nucleic Acids Res 18 : 4968. 1990
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| 105 | VWF
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| Rsal polymorphism in von Willebrand factor (vWF) at codon 789.
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| Nucleic Acids Res 18 : 4961. 1990
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| 106 | VWF
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| Tetranucleotide repeat polymorphism in the vWF gene.
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| Nucleic Acids Res 18 : 4957. 1990
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| 107 | VWF, VWFP
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| Characterization of polymorphic markers in the von Willebrand factor gene and pseudogene.
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| Br J Haematol 74 : 282-289. 1990
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| 108 | VWF
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| An MspI polymorphism in the von Willebrand factor gene.
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| Nucleic Acids Res 18 : 7467. 1990
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| 109 | VWF
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| An EcoRI polymorphism of the human von Willebrand factor cDNA (VWF).
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| Nucleic Acids Res 17 : 2882. 1989
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| 110 | VWF
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| Two additional TaqI RFLPs in von Willebrand factor gene (VWF) and pseudogene.
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| Nucleic Acids Res 17 : 3329. 1989
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| 111 | VWF
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| An EcoRI polymorphism in the human von Willebrand factor (vWF) gene.
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| Nucleic Acids Res 17 : 5416. 1989
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| 112 | VWF
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| Two TaqI polymorphisms in the 5' region of the von Willebrand factor (vWF) gene.
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| Nucleic Acids Res 17 : 10143. 1989
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| 113 | VWF
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| Molecular basis of human von Willebrand disease : analysis of platelet von Willebrand factor mRNA.
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| Proc Natl Acad Sci U S A 86 : 3723-3727. 1989
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| 114 | VWF
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| Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.
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| Proc Natl Acad Sci U S A 85 : 2753-2757. 1988
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| 115 | VWF
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| The human gene for von Willebrand factor. Identification of repetitive ALU sequence 5' to the transcription initiation site.
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| Biochem Biophys Res Commun 153 : 1159-1166. 1988
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| 116 | VWF
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| A Taq I polymorphism in the 5' region of the von Willebrand factor (vWF) gene.
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| Nucleic Acids Res 16 : 2742. 1988
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| 117 | VWF
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| Molecular cloning of the human gene for von Willebrand factor and identification of the transcription initiation site.
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| 118 | VWF
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| Restriction enzyme mapping of families with von Willebrand's disease.
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| (HGM9) Cytogenet Cell Genet 46 : 651. 1987
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| 119 | F8, F8D, VWF
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| RFLPs studies in coagulation FVIII and von Willebrand factors.
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| 120 | VWF
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| Two TaqI RFLPs in the human von Willebrand factor gene.
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| Nucleic Acids Res 15 : 1347. 1987
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| 121 | VWF
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| RsaI RFLP in the human von Willebrand factor gene.
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| Nucleic Acids Res 15 : 5909. 1987
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| 122 | VWF
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| SacI RFLP in the human von Willebrand factor gene.
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| Nucleic Acids Res 15 : 6766. 1987
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| 123 | VWF
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| A second Xba I polymorphic site within the human von Willebrand factor (vWF) gene.
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| 124 | VWF
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| A polymorphism of the human von Willebrand factor (vWf) gene with BamHI.
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| Nucleic Acids Res 14 : 4697. 1986
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| 125 | VWF
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| A polymorphic Xba I site within the human von Willebrand factor (vWf) gene identified by a vWF cDNA clone.
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| Nucleic Acids Res 14 : 7139. 1986
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| Human von Willebrand factor (vWF): isolation of complementary DNA(cDNA) clones and chromosomal localization.
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