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Deciphering the mystery of combined factor V and factor VIII deficiency

dc.contributor.authorSeligsohn, U.en_US
dc.contributor.authorGinsburg, David W.en_US
dc.date.accessioned2010-06-01T21:25:02Z
dc.date.available2010-06-01T21:25:02Z
dc.date.issued2006-05en_US
dc.identifier.citationSELIGSOHN, U.; GINSBURG, D. (2006). "Deciphering the mystery of combined factor V and factor VIII deficiency." Journal of Thrombosis and Haemostasis 4(5): 927-931. <http://hdl.handle.net/2027.42/74477>en_US
dc.identifier.issn1538-7933en_US
dc.identifier.issn1538-7836en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/74477
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=16689736&dopt=citationen_US
dc.format.extent108135 bytes
dc.format.extent3109 bytes
dc.format.mimetypeapplication/pdf
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dc.publisherBlackwell Publishing Incen_US
dc.rights2006 International Society on Thrombosis and Haemostasisen_US
dc.titleDeciphering the mystery of combined factor V and factor VIII deficiencyen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelInternal Medicine and Specialtiesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationum† Departments of Internal Medicine and Human Genetics and Howard Hughes Medical Institute, University of Michigan Medical Center, Ann Arbor, MI, USAen_US
dc.contributor.affiliationother* Amalia Biron Research Institute of Thrombosis and Hemostasis, Sheba Medical Center, Tel Hashomer and Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israelen_US
dc.identifier.pmid16689736en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/74477/1/j.1538-7836.2006.01939.x.pdf
dc.identifier.doi10.1111/j.1538-7836.2006.01939.xen_US
dc.identifier.sourceJournal of Thrombosis and Haemostasisen_US
dc.identifier.citedreferenceOeri J, Matter M, Isenschmid H, Hauser F, Koller F. Congenital factor V deficiency (parahemophilia) with true hemophilia in two brothers (In German). Bibl Paediatr 1954; 58: 575 – 8.en_US
dc.identifier.citedreferenceIversen T, Bastrup-Madsen P. Congenital familial deficiency of factor V (parahaemophilia) combined with deficiency of antihaemophilic globulin. Br J Haematol 1956; 2: 265 – 75.en_US
dc.identifier.citedreferenceSeibert RH, Margolius Jr A, Ratnoff OD. Observations on hemophilia, parahemophilia, and coexistent hemophilia and parahemophilia; alterations in the platelets and the thromboplastin generation test. J Lab Clin Med 1958; 52: 449 – 62.en_US
dc.identifier.citedreferenceJones JH, Rizza CR, Hardisty RM, Dormandy KM, Macpherson JC. Combined deficiency of factor V and factor VIII (antihaemophilic globulin). A report of three cases. Br J Haematol 1962; 8: 120 – 8.en_US
dc.identifier.citedreferenceSaito H, Shioya M, Koie K, Kamiya T, Katsumi O. Congenital combined deficiency of factor V and factor 8. A case report and the effect of transfusion of normal plasma and hemophilic blood. Thromb Diath Haemorrh 1969; 22: 316 – 25.en_US
dc.identifier.citedreferenceSeligsohn U, Ramot B. Combined factor-V and factor-VIII deficiency: report of four cases. Br J Haematol 1969; 16: 475 – 86.en_US
dc.identifier.citedreferenceMenache Dah J. Un Nouveau cas de deficit associt en facteur VIII et V. Pathol Biol (Paris) 1968; 16: 969.en_US
dc.identifier.citedreferenceSibinga CT, Gokemeyer JD, ten Kate LP, Bos-van Zwol F. Combined deficiency of factor V and factor VIII: report of a family and genetic analysis. Br J Haematol 1972; 23: 467 – 81.en_US
dc.identifier.citedreferenceSeligsohn U, Zivelin A, Zwang E. Combined factor V and factor VIII deficiency among non-Ashkenazi Jews. N Engl J Med 1982; 307: 1191 – 5.en_US
dc.identifier.citedreferenceZimmerman TS, Ratnoff OD, Powell AE. Immunologic differentiation of classic hemophilia (factor 8 deficiency) and von Willebrand's disease, with observations on combined deficiencies of antihemophilic factor and proaccelerin (factor V) and on an acquired circulating anticoagulant against antihemophilic factor. J Clin Invest 1971; 50: 244 – 54.en_US
dc.identifier.citedreferenceGiddings JC, Seligsohn U, Bloom AL. Immunological studies in combined factor V and factor VIII deficiency. Br J Haematol 1977; 37: 257 – 64.en_US
dc.identifier.citedreferenceSeligsohn U, Zivelin A, Zwang E. Decreased factor VIII clotting antigen levels in the combined factor V and VIII deficiency. Thromb Res 1984; 33: 95 – 8.en_US
dc.identifier.citedreferenceTracy PB, Eide LL, Bowie EJ, Mann KG. Radioimmunoassay of factor V in human plasma and platelets. Blood 1982; 60: 59 – 63.en_US
dc.identifier.citedreferenceSeligsohn U. Combined factors V and VIII deficiency. In: Seghachian MJ, Savidge GT, eds. Factor VIII–von Willebrand Factor. Boca Raton, USA: CRC Press, Inc., 1989: 89 – 100.en_US
dc.identifier.citedreferenceMarlar RA, Griffin JH. Deficiency of protein C inhibitor in combined factor V/VIII deficiency disease. J Clin Invest 1980; 66: 1186 – 9.en_US
dc.identifier.citedreferenceCanfield WM, Kisiel W. Evidence of normal functional levels of activated protein C inhibitor in combined Factor V/VIII deficiency disease. J Clin Invest 1982; 70: 1260 – 72.en_US
dc.identifier.citedreferenceSuzuki K, Nishioka J, Hashimoto S, Kamiya T, Saito H. Normal titer of functional and immunoreactive protein-C inhibitor in plasma of patients with congenital combined deficiency of factor V and factor VIII. Blood 1983; 62: 1266 – 70.en_US
dc.identifier.citedreferenceGardiner JE, Griffin JH. Studies on human protein C inhibitor in normal and Factor V/VIII deficient plasmas. Thromb Res 1984; 36: 197 – 203.en_US
dc.identifier.citedreferencePittman DD, Wang JH, Kaufman RJ. Identification and functional importance of tyrosine sulfate residues within recombinant factor VIII. Biochemistry 1992; 31: 3315 – 25.en_US
dc.identifier.citedreferencePittman DD, Tomkinson KN, Michnick D, Selighsohn U, Kaufman RJ. Posttranslational sulfation of factor V is required for efficient thrombin cleavage and activation and for full procoagulant activity. Biochemistry 1994; 33: 6952 – 9.en_US
dc.identifier.citedreferenceZivelin A, Yatuv R, Seligsohn U. Combined factor V and factor VIII deficiency is probably not related to genetic disorders of components of the protein C system. Thromb Haemost 1995; 73: 2058.en_US
dc.identifier.citedreferenceLander ES, Botstein D. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987; 236: 1567 – 70.en_US
dc.identifier.citedreferenceNichols WC, Antin JH, Lunetta KL, Terry VH, Hertel CE, Wheatley MA, Arnold ND, Siemieniak DR, Boehnke M, Ginsburg D. Polymorphism of adhesion molecule CD31 is not a significant risk factor for graft-versus-host disease. Blood 1996; 88: 4429 – 34.en_US
dc.identifier.citedreferenceGinsburg D, Nichols WC. Genetic linkage analysis to identify minor histocompatibility loci contributing to graft-versus-host disease. In: Roopenian DC, Simpson E, eds. Minor Histocompatibility Antigens: From the Laboratory to the Clinic. Georgetown: Landes Bioscience, 2000: 105 – 12.en_US
dc.identifier.citedreferenceForoud T, Pankratz N, Batchman AP, Pauciulo MW, Vidal R, Miravalle L, Goebel HH, Cushman LJ, Azzarelli B, Horak H, Farlow M, Nichols WC. A mutation in myotilin causes spheroid body myopathy. Neurology 2005; 65: 1936 – 40.en_US
dc.identifier.citedreferenceNichols WC, Koller DL, Slovis B, Foroud T, Terry VH, Arnold ND, Siemieniak DR, Wheeler L, Phillips III JA, Newman JH, Conneally PM, Ginsburg D, Loyd JE. Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31–32. Nat Genet 1997; 15: 277 – 80.en_US
dc.identifier.citedreferenceNichols WC, Seligsohn U, Zivelin A, Terry VH, Arnold ND, Siemieniak DR, Kaufman RJ, Ginsburg D. Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. J Clin Invest 1997; 99: 596 – 601.en_US
dc.identifier.citedreferenceNeerman-Arbez M, Antonarakis SE, Blouin JL, Zeinali S, Akhtari M, Afshar Y, Tuddenham EG. The locus for combined factor V–factor VIII deficiency (F5F8D) maps to 18q21, between D18S849 and D18S1103. Am J Hum Genet 1997; 61: 143 – 50.en_US
dc.identifier.citedreferenceNichols WC, Seligsohn U, Zivelin A, Terry VH, Hertel CE, Wheatley MA, Moussalli MJ, Hauri HP, Ciavarella N, Kaufman RJ, Ginsburg D. Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell 1998; 93: 61 – 70.en_US
dc.identifier.citedreferenceSegal A, Zivelin A, Rosenberg N, Ginsburg D, Shpilberg O, Seligsohn U. A mutation in LMAN1 (ERGIC-53) causing combined factor V and factor VIII deficiency is prevalent in Jews originating from the island of Djerba in Tunisia. Blood Coagul Fibrinolysis 2004; 15: 99 – 102.en_US
dc.identifier.citedreferenceNichols WC, Terry VH, Wheatley MA, Yang A, Zivelin A, Ciavarella N, Stefanile C, Matsushita T, Saito H, de Bosch NB, Ruiz-Saez A, Torres A, Thompson AR, Feinstein DI, White GC, Negrier C, Vinciguerra C, Aktan M, Kaufman RJ, Ginsburg D, Seligsohn U. ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families. Blood 1999; 93: 2261 – 6.en_US
dc.identifier.citedreferenceNeerman-Arbez M, Johnson KM, Morris MA, McVey JH, Peyvandi F, Nichols WC, Ginsburg D, Rossier C, Antonarakis SE, Tuddenham EG. Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V–factor VIII deficiency. Blood 1999; 93: 2253 – 60.en_US
dc.identifier.citedreferenceZhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch NB, Ruiz-Saez A, White GC, Tuddenham EG, Kaufman RJ, Ginsburg D. Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complex. Nat Genet 2003; 34: 220 – 5.en_US
dc.identifier.citedreferenceCunningham MA, Pipe SW, Zhang B, Hauri HP, Ginsburg D, Kaufman RJ. LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII. J Thromb Haemost 2003; 1: 2360 – 7.en_US
dc.identifier.citedreferenceZhang B, Kaufman RJ, Ginsburg D. LMAN1 and MCFD2 form a cargo receptor complex and interact with coagulation factor VIII in the early secretory pathway. J Biol Chem 2005; 280: 25881 – 6.en_US
dc.identifier.citedreferenceMoussalli M, Pipe SW, Hauri HP, Nichols WC, Ginsburg D, Kaufman RJ. Mannose-dependent endoplasmic reticulum (ER)-Golgi intermediate compartment-53-mediated ER to Golgi trafficking of coagulation factors V and VIII. J Biol Chem 1999; 274: 32539 – 42.en_US
dc.identifier.citedreferenceZhang B, McGee B, Yamaoka JS, Guglielmone H, Downes KA, Minoldo S, Jarchum G, Peyvandi F, de Bosch NB, Ruiz-Saez A, Chatelain B, Olpinski M, Bockenstedt P, Sperl W, Kaufamn RF, Nichols WC, Tuddenham EGD, Ginsburg D. Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood 2006; 107: 1903 – 7.en_US
dc.identifier.citedreferenceZhang B, Ginsburg D. Familial multiple coagulation factor deficiencies: new biologic insight from rare genetic bleeding disorders. J Thromb Haemost 2004; 2: 1564 – 72.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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