Von Willebrand Disease: From In Vivo to In Vitro Disease Models.
Journal
HemaSphere
ISSN: 2572-9241
Titre abrégé: Hemasphere
Pays: United States
ID NLM: 101740619
Informations de publication
Date de publication:
Oct 2019
Oct 2019
Historique:
received:
18
06
2019
accepted:
04
09
2019
entrez:
17
1
2020
pubmed:
17
1
2020
medline:
17
1
2020
Statut:
epublish
Résumé
Von Willebrand factor (VWF) plays an essential role in primary hemostasis and is exclusively synthesized and stored in endothelial cells and megakaryocytes. Upon vascular injury, VWF is released into the circulation where this multimeric protein is required for platelet adhesion. Defects of VWF lead to the most common inherited bleeding disorder von Willebrand disease (VWD). Three different types of VWD exist, presenting with varying degrees of bleeding tendencies. The pathophysiology of VWD can be investigated by examining the synthesis, storage and secretion in VWF producing cells. These cells can either be primary VWF producing cells or transfected heterologous cell models. For many years transfected heterologous cells have been used successfully to elucidate many aspects of VWF synthesis. However, those cells do not fully reflect the characteristics of primary cells. Obtaining primary endothelial cells or megakaryocytes with a VWD phenotype, requires invasive procedures, such as vessel collection or a bone marrow biopsy. A more recent and promising development is the isolation of endothelial colony forming cells (ECFCs) from peripheral blood as a true-to-nature cell model. Alternatively, various animal models are available but limiting, therefore, new approaches are needed to study VWD and other bleeding disorders. A potential versatile source of endothelial cells and megakaryocytes could be induced pluripotent stem cells (iPSCs). This review gives an overview of models that are available to study VWD and VWF and will discuss novel approaches that can be considered to improve the understanding of the structural and functional mechanisms underlying this disease.
Identifiants
pubmed: 31942548
doi: 10.1097/HS9.0000000000000297
pii: HemaSphere-2019-0131
pmc: PMC6919471
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
e297Informations de copyright
Copyright © 2019 the Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the European Hematology Association.
Déclaration de conflit d'intérêts
The authors have indicated they have no potential conflicts of interest to disclose.
Références
Blood. 2011 Jan 20;117(3):1071-80
pubmed: 21048155
Exp Hematol. 1999 Feb;27(2):293-301
pubmed: 10029169
Blood. 1951 Jan;6(1):75-80
pubmed: 14791601
Blood. 1990 Apr 1;75(7):1466-72
pubmed: 2317558
EMBO J. 1993 Feb;12(2):749-58
pubmed: 8440262
Cell Stem Cell. 2010 Jul 2;7(1):20-4
pubmed: 20621045
Semin Cell Dev Biol. 2002 Aug;13(4):313-24
pubmed: 12243731
J Thromb Haemost. 2006 Oct;4(10):2103-14
pubmed: 16889557
Stem Cell Reports. 2016 Oct 11;7(4):802-816
pubmed: 27693424
Mol Biol Cell. 2002 May;13(5):1582-93
pubmed: 12006654
J Thromb Haemost. 2009 Jul;7 Suppl 1:61-4
pubmed: 19630770
Blood. 1994 Jun 1;83(11):3225-31
pubmed: 8193357
Exp Mol Med. 2017 Apr 28;49(4):e322
pubmed: 28450738
Front Med (Lausanne). 2018 Oct 23;5:295
pubmed: 30406106
Stem Cell Reports. 2018 May 8;10(5):1642-1656
pubmed: 29657098
Blood. 2016 Jul 28;128(4):584-93
pubmed: 27317792
Haematologica. 2009 May;94(5):670-8
pubmed: 19336741
Exp Cell Res. 1997 Feb 1;230(2):352-61
pubmed: 9024794
Adv Exp Med Biol. 1978;102:123-33
pubmed: 356556
Dev Cell. 2006 Feb;10(2):223-32
pubmed: 16459301
Eur Heart J. 2020 Mar 1;41(9):1024-1036
pubmed: 31242503
Proc Natl Acad Sci U S A. 1989 May;86(10):3793-7
pubmed: 2657729
J Clin Invest. 1985 Sep;76(3):1102-6
pubmed: 2413071
J Clin Invest. 2000 Jan;105(1):71-7
pubmed: 10619863
J Thromb Haemost. 2018 Jul;16(7):1357-1368
pubmed: 29734512
Br J Haematol. 2010 Mar;148(6):834-43
pubmed: 20067560
J Am Vet Med Assoc. 1987 Feb 15;190(4):437-9
pubmed: 3104251
Haematologica. 2019 Jul;104(7):1473-1481
pubmed: 30655369
Blood Coagul Fibrinolysis. 2017 Oct;28(7):521-533
pubmed: 28362648
Blood. 2008 Feb 1;111(3):1227-33
pubmed: 17962514
Nat Biotechnol. 2008 Nov;26(11):1276-84
pubmed: 18931654
Int J Hematol. 2018 Apr;107(4):428-435
pubmed: 29392565
Blood. 2015 May 28;125(22):3509-16
pubmed: 25716207
Blood. 1990 Dec 1;76(11):2258-65
pubmed: 2124152
Blood Transfus. 2017 Oct;15(6):548-556
pubmed: 27483487
Blood. 2010 Apr 1;115(13):2649-56
pubmed: 20118404
Blood. 1981 Oct;58(4):788-96
pubmed: 6791726
J Thromb Haemost. 2012 Oct;10(10):2168-78
pubmed: 22905953
Cell Stem Cell. 2016 May 5;18(5):573-86
pubmed: 27152442
Blood. 2008 Aug 1;112(3):603-9
pubmed: 18487513
J Thromb Haemost. 2006 Jan;4(1):148-57
pubmed: 16409464
Proc Natl Acad Sci U S A. 1992 Apr 15;89(8):3531-5
pubmed: 1565649
Thromb Res. 1985 Jun 15;38(6):623-33
pubmed: 3927508
Proc Natl Acad Sci U S A. 2008 Jan 15;105(2):482-7
pubmed: 18182488
Cell. 1991 Jan 25;64(2):403-13
pubmed: 1988154
Am J Transl Res. 2013;5(1):21-35
pubmed: 23390563
Blood. 2015 Oct 8;126(15):1753-61
pubmed: 26215113
Blood. 2010 Sep 9;116(10):1807-16
pubmed: 20448112
EMBO J. 1990 Mar;9(3):797-803
pubmed: 2311582
Blood. 2013 Apr 4;121(14):2773-84
pubmed: 23355534
Br J Haematol. 1993 Jan;83(1):88-93
pubmed: 8435340
JCI Insight. 2016 Jun 2;1(8):
pubmed: 27398408
J Clin Invest. 1973 Nov;52(11):2745-56
pubmed: 4355998
Sci Rep. 2016 May 23;6:26306
pubmed: 27212476
Proc Natl Acad Sci U S A. 1987 Sep;84(18):6550-4
pubmed: 3306682
J Thromb Haemost. 2019 Sep;17(9):1544-1554
pubmed: 31265169
PLoS One. 2017 Mar 13;12(3):e0173271
pubmed: 28288160
Proc Natl Acad Sci U S A. 1998 Aug 4;95(16):9524-9
pubmed: 9689113
Blood. 2013 Apr 4;121(14):2583-4
pubmed: 23557970
Nat Protoc. 2014;9(6):1514-31
pubmed: 24874816
J Thromb Haemost. 2019 Jul;17(7):1190-1194
pubmed: 31119878
Blood. 1979 Apr;53(4):712-9
pubmed: 311643
Cell Stem Cell. 2015 Aug 6;17(2):213-20
pubmed: 26212079
Blood. 2003 Jul 15;102(2):436-41
pubmed: 12649145
Stem Cells. 2014 Dec;32(12):3037-45
pubmed: 25070152
Blood. 2006 Jun 15;107(12):4728-36
pubmed: 16478886
Stem Cells Transl Med. 2017 May;6(5):1316-1320
pubmed: 28296182
Stem Cells. 2009 Mar;27(3):559-67
pubmed: 19259936
Blood. 2013 Apr 4;121(14):2762-72
pubmed: 23426949
Tissue Eng Part C Methods. 2010 Oct;16(5):877-86
pubmed: 19891540
J Biol Chem. 2011 Jul 8;286(27):24180-8
pubmed: 21596755
Blood. 2010 Jun 10;115(23):4870-7
pubmed: 20200350
PLoS One. 2015 Feb 13;10(2):e0118081
pubmed: 25679506
Annu Rev Cell Biol. 1990;6:217-46
pubmed: 2275814
Blood. 2010 Jun 10;115(23):4862-9
pubmed: 20371742
Mol Ther. 2017 Apr 5;25(4):935-948
pubmed: 28279644
Stem Cells Int. 2014;2014:768391
pubmed: 25431601
Cell. 2007 Nov 30;131(5):861-72
pubmed: 18035408
Blood. 1988 Jun;71(6):1533-8
pubmed: 3285907
Stem Cells Transl Med. 2012 Dec;1(12):855-65
pubmed: 23283547
J Allergy Clin Immunol. 2018 Aug;142(2):630-646
pubmed: 29391254
Vet Clin North Am Small Anim Pract. 1988 Jan;18(1):195-229
pubmed: 3282380
Arteriosclerosis. 1987 Jan-Feb;7(1):47-54
pubmed: 3545164
Cell Stem Cell. 2014 Apr 3;14(4):535-48
pubmed: 24529595
Blood. 2000 Sep 1;96(5):1808-15
pubmed: 10961880
Blood. 2014 Aug 28;124(9):1412-25
pubmed: 24928861
Nature. 1986 Nov 20-26;324(6094):270-3
pubmed: 3491324
Haematologica. 2012 Jun;97(6):859-66
pubmed: 22207689
Stem Cells Dev. 2005 Aug;14(4):415-24
pubmed: 16137231
J Thromb Haemost. 2017 Jul;15(7):1403-1411
pubmed: 28453889
Arterioscler Thromb Vasc Biol. 2014 Jan;34(1):177-86
pubmed: 24158517
N Engl J Med. 2016 Nov 24;375(21):2067-2080
pubmed: 27959741
Stem Cell Res Ther. 2012 Aug 16;3(4):31
pubmed: 22897941
Br J Haematol. 2014 Nov;167(4):529-40
pubmed: 25103891
J Lab Clin Med. 1970 Nov;76(5):713-21
pubmed: 5312238
Differentiation. 2013 Feb;85(3):101-9
pubmed: 23665895
J Vis Exp. 2015 Dec 23;(106):e53384
pubmed: 26780290
J Thromb Haemost. 2015 Oct;13(10):1854-66
pubmed: 26270243
Bioessays. 2006 Mar;28(3):261-70
pubmed: 16479582