Page 2205 - Williams Hematology ( PDFDrive )

2180 Part XII: Hemostasis and Thrombosis Chapter 126: von Willebrand Disease 2181

203. Ginsburg D, Konkle BA, Gill JC, et al: Molecular basis of human von Willebrand 231. Graham JB, Barrow ES, Roberts HR, et al: Dominant inheritance of hemophilia A in
disease: Analysis of platelet von Willebrand factor mRNA. Proc Natl Acad Sci U S A three generations of women. Blood 46:175–188, 1975.
86:3723–3727, 1989. 232. Mazurier C, Gaucher C, Jorieux S, et al: Evidence for a von Willebrand factor defect in
204. Hassenpflug WA, Budde U, Obser T, et al: Impact of mutations in the von Willebrand factor VIII binding in three members of a family previously misdiagnosed mild hae-
factor A2 domain on ADAMTS13-dependent proteolysis. Blood 107:2339–2345, mophilia A and haemophilia A carriers: Consequences for therapy and genetic coun-
2006. selling. Br J Haematol 76:372–379, 1990.
205. Jacobi PM, Gill JC, Flood VH, et al: Intersection of mechanisms of type 2A VWD 233. Mazurier C, Diéval J, Jorieux S, et al: A new von Willebrand Factor (vWF) defect in
through defects in VWF multimerization, secretion, ADAMTS-13 susceptibility, and a patient with factor VIII (FVIII) deficiency but with normal levels and multimeric
regulated storage. Blood 119:4543–4553, 2012. patterns of both plasma and platelet vWF. Characterization of abnormal vWF/FVIII
206. Lyons SE, Bruck ME, Bowie EJ, Ginsburg D: Impaired intracellular transport produced interaction. Blood 75:20–26, 1990.
by a subset of type IIA von Willebrand disease mutations. J Biol Chem 267:4424–4430, 234. Nishino M, Girma J-P, Rothschild C, et al: New variant of von Willebrand disease with
1992. defective binding to factor VIII. Blood 74:1591–1599, 1989.
207. Dent JA, Galbusera M, Ruggeri ZM: Heterogeneity of plasma von Willebrand fac- 235. Hampshire DJ, Goodeve AC: The international society on thrombosis and haematosis
tor multimers resulting from proteolysis of the constituent subunit. J Clin Invest 88: von Willebrand disease database: An update. Semin Thromb Hemost 37:470–479, 2011.
774–782, 1991. 236. Eikenboom JC, Reitsma PH, Peerlinck KM, Briët E: Recessive inheritance of von Wille-
208. Gralnick HR, Williams SB, McKeown LP, et al: In vitro correction of the abnormal mul- brand’s disease type I. Lancet 341:982–986, 1993.
timeric structure of von Willebrand factor in Type IIA von Willebrand’s disease. Proc 237. Castaman G, Giacomelli SH, Jacobi P, et al: Homozygous type 2N R854W von Wille-
Natl Acad Sci U S A 82:5968–5972, 1985. brand factor is poorly secreted and causes a severe von Willebrand disease phenotype.
209. Kunicki TJ, Montgomery RR, Schullek J: Cleavage of human von Willebrand factor by J Thromb Haemost 8:2011–2016, 2010.
platelet calcium-activated protease. Blood 65:352–356, 1985. 238. Gupta M, Lillicrap D, Stain AM, Friedman KD, Carcao MD: Therapeutic consequences
210. Chung DW, Fujikawa K: Processing of von Willebrand Factor by ADAMTS-13. for misdiagnosis of type 2N von Willebrand disease. Pediatr Blood Cancer 57:1081–
Biochemistry 41:11065–11070, 2003. 1083, 2011.
211. Budde U: Diagnosis of von Willebrand disease subtypes: Implications for treatment. 239. Nichols WC, Cooney KA, Ginsburg D, Ruggeri ZM: Von Willebrand disease, in Throm-
Haemophilia 14:27–38, 2008. bosis and Hemorrhage, edited by J Loscalzo, AI Schafer, pp 539–559. Lipincott Williams
212. Schneppenheim R, Thomas KB, Krey S, et al: Identification of a candidate missense & Wilkins, Philadelphia, 2003.
mutation in a family with von Willebrand disease type IIC. Hum Genet 95:681–686, 240. Meyer D, Fressinaud E, Gaucher C, et al: Gene defects in 150 unrelated French cases
1995. with type 2 von Willebrand disease: From the patient to the gene. Thromb Haemost
213. Gaucher C, Diéval J, Mazurier C: Characterization of von Willebrand factor gene 78:451–456, 1997.
defects in two unrelated patients with type IIC von Willebrand disease. Blood 84:1024– 241. McKinnon TA, Nowak AA, Cutler J, et al: Characterisation of von Willebrand factor A1
1030, 1994. domain mutants I1416N and I1416T: Correlation of clinical phenotype with flow-based
214. Haberichter SL, Budde U, Obser T, et al: The mutation N528S in the von Willebrand platelet adhesion. J Thromb Haemost 10:1409–1416, 2012.
factor (VWF) propeptide causes defective multimerization and storage of VWF. Blood 242. Larsen DM, Haberichter SL, Gill JC, et al: Variability in platelet- and collagen-binding
115:4580–4587, 2010. defects in type 2M von Willebrand disease. Haemophilia 19:590–594, 2013.
215. Schneppenheim R, Brassard J, Krey S, et al: Defective dimerization of von Willebrand 243. Mannucci PM, Lombardi R, Castaman G, et al: von Willebrand disease “Vicenza” with
factor subunits due to a Cys -> Arg mutation in type IID von Willebrand disease. Proc larger-than-normal (supranormal) von Willebrand factor multimers. Blood 71:65–70,
Natl Acad Sci U S A 93:3581–3586, 1996. 1988.
216. Cooney KA, Nichols WC, Bruck ME, et al: The molecular defect in type IIB von Wille- 244. Randi AM, Sacchi E, Castaman GC, et al: The genetic defect of type I von Willebrand
brand disease. Identification of four potential missense mutations within the putative disease “Vicenza” is linked to the von Willebrand factor gene. Thromb Haemost 69:
GpIb binding domain. J Clin Invest 87:1227–1233, 1991. 173–176, 1993.
217. Ribba AS, Lavergne JM, Bahnak BR, et al: Duplication of a methionine within the gly- 245. Casonato A, Pontara E, Sartorello F, et al: Reduced von Willebrand factor survival in
coprotein Ib binding domain of von Willebrand factor detected by denaturing gradi- type Vicenza von Willebrand disease. Blood 99:180–184, 2002.
ent gel electrophoresis in a patient with type IIB von Willebrand disease. Blood 78: 246. Castaman G, Rodeghiero F, Mannucci PM: The elusive pathogenesis of von Willebrand
1738–1743, 1991. disease Vicenza. Blood 99:4243–4244, 2002.
218. Cooney KA, Ginsburg D: Comparative analysis of type 2B von Willebrand disease 247. Gezsi A, Budde U, Deak I, et al: Accelerated clearance alone explains ultra-large multi-
mutations: Implications for the mechanism of von Willebrand factor to binding plate- mers in von Willebrand disease Vicenza. J Thromb Haemost 8:1273–1280, 2010.
lets. Blood 87:2322–2328, 1996. 248. Berkowitz SD, Ruggeri ZM, Zimmerman TS: Von Willebrand disease, in Coagulation
219. Cooney KA, Lyons SE, Ginsburg D: Functional analysis of a type IIB von Willebrand and Bleeding Disorders. The Role of Factor VIII and von Willebrand Factor, edited by TS
disease missense mutation: Increased binding of large von Willebrand factor multimers Zimmerman, ZM Ruggeri, pp 215–259. Marcel Dekker, New York, 1989.
to platelets. Proc Natl Acad Sci U S A 89:2869–2872, 1992. 249. Miller CH, Graham JB, Goldin LR, Elston RC: Genetics of classic von Willebrand’s
220. Ware J, Dent JA, Azuma H, et al: Identification of a point mutation in type IIB von disease. I. Phenotypic variation within families. Blood 54:117–145, 1979.
Willebrand disease illustrating the regulation of von Willebrand factor affinity for the 250. Gill JC, Endres-Brooks J, Bauer PJ, et al: The effect of ABO blood group on the diagnosis
platelet membrane glycoprotein Ib-IX receptor. Proc Natl Acad Sci U S A 88:2946–2950, of von Willebrand disease. Blood 69:1691–1695, 1987.
1991. 251. Orstavik KH, Kornstad L, Reisner H, Berg K: Possible effect of secretor locus on plasma
221. Kroner PA, Kluessendorf ML, Scott JP, Montgomery RR: Expressed full-length von concentration of Factor VIII and von Willebrand factor. Blood 73:990–993, 1989.
Willebrand factor containing missense mutations linked to type IIB von Willebrand 252. O’Donnell J, Boulton FE, Manning RA, Laffan MA: Genotype at the secretor blood
disease shows enhanced binding to platelets. Blood 79:2048–2055, 1992. group locus is a determinant of plasma von Willebrand factor level. Br J Haematol
222. Randi AM, Jorieux S, Tuley EA, et al: Recombinant von Willebrand factor Arg ->Gln: 116:350–356, 2002.
578
A type IIB von Willebrand disease mutation affects binding to glycoprotein Ib but not 253. Franchini M, Crestani S, Frattini F, et al: ABO blood group and von Willebrand factor:
to collagen or heparin. J Biol Chem 267:21187–21192, 1992. Biological implications. Clin Chem Lab Med 52:1273–1276, 2014.
223. Blenner MA, Dong X, Springer TA: Structural basis of regulation of von Willebrand 254. Antoni G, Oudot-Mellakh T, Dimitromanolakis A, et al: Combined analysis of three
factor binding to glycoprotein Ib. J Biol Chem 289:5565–5579, 2014. genome-wide association studies on vWF and FVIII plasma levels. BMC Med Genet
224. Rayes J, Hollestelle MJ, Legendre P, et al: Mutation and ADAMTS13-dependent mod- 12:102, 2011.
ulation of disease severity in a mouse model for von Willebrand disease type 2B. Blood 255. Smith NL, Chen MH, Dehghan A, et al: Novel associations of multiple genetic loci
115:4870–4877, 2010. with plasma levels of factor VII, factor VIII, and von Willebrand factor: The CHARGE
225. Casari C, Du V, Wu YP, et al: Accelerated uptake of VWF/platelet complexes in mac- (Cohorts for Heart and Aging Research in Genome Epidemiology) Consortium. Circu-
rophages contributes to VWD type 2B-associated thrombocytopenia. Blood 122: lation 121:1382–1392, 2010.
2893–2902, 2013. 256. Zhu Q, Yamakuchi M, Ture S, et al: Syntaxin-binding protein STXBP5 inhibits endothe-
226. Casari C, Berrou E, Lebret M, et al: von Willebrand factor mutation promotes throm- lial exocytosis and promotes platelet secretion. J Clin Invest 124:4503–4516, 2014.
bocytopathy by inhibiting integrin alphaIIbbeta3. J Clin Invest 123:5071–5081, 2013. 257. Ye S, Huang Y, Joshi S, et al: Platelet secretion and hemostasis require syntaxin-binding
227. Golder M, Pruss CM, Hegadorn C, et al: Mutation-specific hemostatic variability protein STXBP5. J Clin Invest 124:4517–4528, 2014.
in mice expressing common type 2B von Willebrand disease substitutions. Blood 258. Rydz N, Swystun LL, Notley C, et al: The C-type lectin receptor CLEC4M binds, inter-
115:4862–4869, 2010. nalizes, and clears von Willebrand factor and contributes to the variation in plasma von
228. Ozeki M, Kunishima S, Kasahara K, et al: A family having type 2B von Willebrand dis- Willebrand factor levels. Blood 121:5228–5237, 2013.
ease with an R1306W mutation: Severe thrombocytopenia leads to the normalization 259. Desch KC, Ozel AB, Siemieniak D, et al: Linkage analysis identifies a locus for plasma
of high molecular weight multimers. Thromb Res 125:e17–e22, 2010. von Willebrand factor undetected by genome-wide association. Proc Natl Acad Sci U S A
229. Holmberg L, Dent JA, Schneppenheim R, et al: von Willebrand factor mutation 110:588–593, 2013.
enhancing interaction with platelets in patients with normal multimeric structure. 260. Werner EJ, Broxson EH, Tucker EL, et al: Prevalence of von Willebrand disease in chil-
J Clin Invest 91:2169–2177, 1993. dren: A multiethnic study. J Pediatr 123:893–898, 1993.
230. Veltkamp JJ, van Tilburg NH: Autosomal haemophilia: A variant of von Willebrand’s 261. Rodeghiero F, Castaman G, Dini E: Epidemiological investigation of the prevalence of
disease. Br J Haematol 26:141–152, 1974. von Willebrand’s disease. Blood 69:454–459, 1987.

Kaushansky_chapter 126_p2163-2182.indd 2180 9/21/15 3:15 PM