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Items: 1 to 20 of 107

1.

Cellular and molecular basis of von Willebrand disease: studies on blood outgrowth endothelial cells.

Starke RD, Paschalaki KE, Dyer CE, Harrison-Lavoie KJ, Cutler JA, McKinnon TA, Millar CM, Cutler DF, Laffan MA, Randi AM.

Blood. 2013 Apr 4;121(14):2773-84. doi: 10.1182/blood-2012-06-435727. Epub 2013 Jan 25.

2.

Analysis of the storage and secretion of von Willebrand factor in blood outgrowth endothelial cells derived from patients with von Willebrand disease.

Wang JW, Bouwens EA, Pintao MC, Voorberg J, Safdar H, Valentijn KM, de Boer HC, Mertens K, Reitsma PH, Eikenboom J.

Blood. 2013 Apr 4;121(14):2762-72. doi: 10.1182/blood-2012-06-434373. Epub 2013 Feb 20.

3.

Re-establishment of VWF-dependent Weibel-Palade bodies in VWD endothelial cells.

Haberichter SL, Merricks EP, Fahs SA, Christopherson PA, Nichols TC, Montgomery RR.

Blood. 2005 Jan 1;105(1):145-52. Epub 2004 Aug 26.

4.

Angiogenic characteristics of blood outgrowth endothelial cells from patients with von Willebrand disease.

Groeneveld DJ, van Bekkum T, Dirven RJ, Wang JW, Voorberg J, Reitsma PH, Eikenboom J.

J Thromb Haemost. 2015 Oct;13(10):1854-66. doi: 10.1111/jth.13112. Epub 2015 Sep 21.

PMID:
26270243
5.

Reduced von Willebrand factor secretion is associated with loss of Weibel-Palade body formation.

Castaman G, Giacomelli SH, Jacobi PM, Obser T, Budde U, Rodeghiero F, Schneppenheim R, Haberichter SL.

J Thromb Haemost. 2012 May;10(5):951-8. doi: 10.1111/j.1538-7836.2012.04702.x.

6.

Characterization of aberrant splicing of von Willebrand factor in von Willebrand disease: an underrecognized mechanism.

Hawke L, Bowman ML, Poon MC, Scully MF, Rivard GE, James PD.

Blood. 2016 Jul 28;128(4):584-93. doi: 10.1182/blood-2015-10-678052. Epub 2016 Jun 17.

7.

Phenotypic correction of von Willebrand disease type 3 blood-derived endothelial cells with lentiviral vectors expressing von Willebrand factor.

De Meyer SF, Vanhoorelbeke K, Chuah MK, Pareyn I, Gillijns V, Hebbel RP, Collen D, Deckmyn H, VandenDriessche T.

Blood. 2006 Jun 15;107(12):4728-36. Epub 2006 Feb 14.

9.

The molecular characterization of von Willebrand disease: good in parts.

James PD, Lillicrap D.

Br J Haematol. 2013 Apr;161(2):166-76. doi: 10.1111/bjh.12249. Epub 2013 Feb 14. Review.

10.

CLEC4M and STXBP5 gene variations contribute to von Willebrand factor level variation in von Willebrand disease.

Sanders YV, van der Bom JG, Isaacs A, Cnossen MH, de Maat MP, Laros-van Gorkom BA, Fijnvandraat K, Meijer K, van Duijn CM, Mauser-Bunschoten EP, Eikenboom J, Leebeek FW; WiN Study Group.

J Thromb Haemost. 2015 Jun;13(6):956-66. doi: 10.1111/jth.12927. Epub 2015 May 9.

11.
12.

Severe, recessive type 1 is a discrete form of von Willebrand disease: the lesson learned from the c.1534-3C>A von Willebrand factor mutation.

Casonato A, Cattini MG, Barbon G, Daidone V, Pontara E.

Thromb Res. 2015 Sep;136(3):682-6. doi: 10.1016/j.thromres.2015.07.014. Epub 2015 Jul 26.

PMID:
26251079
13.

The genetic basis of von Willebrand disease.

Goodeve AC.

Blood Rev. 2010 May;24(3):123-34. doi: 10.1016/j.blre.2010.03.003. Epub 2010 Apr 20. Review.

PMID:
20409624
15.

Similarity in joint and mucous bleeding syndromes in type 2N von Willebrand disease and severe hemophilia A coexisting with type 1 von Willebrand disease in two Chinese pedigrees.

Qin HH, Xing ZF, Wang XF, Ding QL, Xi XD, Wang HL.

Blood Cells Mol Dis. 2014 Apr;52(4):181-5. doi: 10.1016/j.bcmd.2013.11.005. Epub 2013 Dec 16.

PMID:
24351655
16.

von Willebrand disease type 2A phenotypes IIC, IID and IIE: A day in the life of shear-stressed mutant von Willebrand factor.

Brehm MA, Huck V, Aponte-Santamaría C, Obser T, Grässle S, Oyen F, Budde U, Schneppenheim S, Baldauf C, Gräter F, Schneider SW, Schneppenheim R.

Thromb Haemost. 2014 Jul 3;112(1):96-108. doi: 10.1160/TH13-11-0902. Epub 2014 Mar 6.

PMID:
24598842
17.

Laboratory diagnosis and molecular classification of von Willebrand disease.

Gadisseur A, Hermans C, Berneman Z, Schroyens W, Deckmyn H, Michiels JJ.

Acta Haematol. 2009;121(2-3):71-84. doi: 10.1159/000214846. Epub 2009 Jun 8. Review.

PMID:
19506352
18.

Intersection of mechanisms of type 2A VWD through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and regulated storage.

Jacobi PM, Gill JC, Flood VH, Jakab DA, Friedman KD, Haberichter SL.

Blood. 2012 May 10;119(19):4543-53. doi: 10.1182/blood-2011-06-360875. Epub 2012 Mar 19.

19.

Effect of genetic variation in STXBP5 and STX2 on von Willebrand factor and bleeding phenotype in type 1 von Willebrand disease patients.

van Loon JE, Sanders YV, de Wee EM, Kruip MJ, de Maat MP, Leebeek FW.

PLoS One. 2012;7(7):e40624. doi: 10.1371/journal.pone.0040624. Epub 2012 Jul 6.

20.

The mutation N528S in the von Willebrand factor (VWF) propeptide causes defective multimerization and storage of VWF.

Haberichter SL, Budde U, Obser T, Schneppenheim S, Wermes C, Schneppenheim R.

Blood. 2010 Jun 3;115(22):4580-7. doi: 10.1182/blood-2009-09-244327. Epub 2010 Mar 24.

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