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Identifying novel genetic determinants of hemostatic balance
dc.contributor.authorGinsburg, David W.en_US
dc.date.accessioned2010-06-01T20:37:40Z
dc.date.available2010-06-01T20:37:40Z
dc.date.issued2005-08en_US
dc.identifier.citationGINSBURG, D. (2005). "Identifying novel genetic determinants of hemostatic balance." Journal of Thrombosis and Haemostasis 3(8): 1561-1568. <http://hdl.handle.net/2027.42/73734>en_US
dc.identifier.issn1538-7933en_US
dc.identifier.issn1538-7836en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/73734
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=16102020&dopt=citationen_US
dc.format.extent331544 bytes
dc.format.extent3109 bytes
dc.format.mimetypeapplication/pdf
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dc.publisherBlackwell Science Incen_US
dc.rights2005 International Society on Thrombosis and Haemostasisen_US
dc.subject.otherCoagulation Protein Disordersen_US
dc.subject.otherFactor Ven_US
dc.subject.otherFactor VIIIen_US
dc.subject.otherHemostasisen_US
dc.subject.otherGenetic Modelen_US
dc.subject.otherVon Willebrand Factoren_US
dc.titleIdentifying novel genetic determinants of hemostatic balanceen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelInternal Medicine and Specialtiesen_US
dc.subject.hlbtoplevelHealth Sciencesen_US
dc.description.peerreviewedPeer Revieweden_US
dc.identifier.pmid16102020en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/73734/1/j.1538-7836.2005.01461.x.pdf
dc.identifier.doi10.1111/j.1538-7836.2005.01461.xen_US
dc.identifier.sourceJournal of Thrombosis and Haemostasisen_US
dc.identifier.citedreferenceJiang Y, Doolittle RF. The evolution of vertebrate blood coagulation as viewed from a comparison of puffer fish and sea squirt genomes. Proc Natl Acad Sci USA 2003; 100: 7527 – 32.en_US
dc.identifier.citedreferenceDavidson CJ, Tuddenham EG, McVey JH. 450 million years of hemostasis. J Thromb Haemost 2003; 1: 1487 – 94.en_US
dc.identifier.citedreferenceGinsburg D. Hemophilia and other disorders of hemostasis. In: Rimoin DL, Connor JM, Pyeritz RE, eds. Emery and Rimoin's Principles and Practice of Medical Genetics, Vol. II., 4th edn. Churchill Livingstone, New York, 2002: 1926 – 58.en_US
dc.identifier.citedreferenceGinsburg D. Disorders of the fibrinolytic system. In: Scriver CR, Beaudet AL, Sly WS, Valle D, Childs B, Vogelstein B, eds. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw Hill, New York, 2001: 4505 – 16.en_US
dc.identifier.citedreferenceNichols WC, Cooney KA, Ginsburg D, Ruggeri ZM. von Willebrand disease. In: Loscalzo J, Schafer AI, eds. Thrombosis and Hemorrhage, 3th edn. Lippincott Williams & Wilkins, Philadelphia, 2003: 539 – 59.en_US
dc.identifier.citedreferenceNadeau JH. Modifier genes in mice and humans. Nat Rev Genet 2001; 2: 165 – 74.en_US
dc.identifier.citedreferenceCarlson CS, Eberle MA, Kruglyak L, Nickerson DA. Mapping complex disease loci in whole-genome association studies. Nature 2004; 429: 446 – 52.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.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.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.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 J-L, Akhtari M, Afshar Y, Tuddenham EGD. 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 H-P, 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.citedreferenceNeerman-Arbez M, Johnson KM, Morris MA, McVey JH, Peyvandi F, Nichols WC, Ginsburg D, Rossier C, Antonarakis SE, Tuddenham EGD. 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.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.citedreferenceZhang B, Cunningham MA, Nichols WC, Bernat JA, Seligsohn U, Pipe SW, McVey JH, Schulte-Overberg U, de Bosch N, Ruiz-Saez A, White GC, Tuddenham EGD, 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.citedreferenceLevy GG, Nichols WC, Lian EC, Foroud T, McClintick JN, McGee BM, Yang AY, Siemieniak DR, Stark KR, Gruppo R, Sarode R, Shurin SB, Chandrasekaran V, Stabler SP, Sabio H, Bouhassira EE, Upshaw JD Jr, Ginsburg D, Tsai H-M. Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature 2001; 413: 488 – 94.en_US
dc.identifier.citedreferenceFujikawa K, Suzuki H, McMullen B, Chung D. Purification of human von Willebrand factor-cleaving protease and its identification as a new member of the metalloproteinase family. Blood 2001; 98: 1662 – 6.en_US
dc.identifier.citedreferenceGerritsen HE, Robles R, Lammle B, Furlan M. Partial amino acid sequence of purified von Willebrand factor-cleaving protease. Blood 2001; 98: 1654 – 61.en_US
dc.identifier.citedreferenceSoejima K, Mimura N, Hirashima M, Maeda H, Hamamoto T, Nakagaki T, Nozaki C. A novel human metalloprotease synthesized in the liver and secreted into the blood: Possibly, the von Willebrand factor-cleaving protease ? J Biochem (Tokyo) 2001; 130: 475 – 80.en_US
dc.identifier.citedreferenceKokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y. Mutations and common polymorphisms in ADAMTS-13 gene responsible for von Willebrand factor-cleaving protease activity. Proc Natl Acad Sci USA 2002; 99: 11902 – 7.en_US
dc.identifier.citedreferenceNichols WC, Amano K, Cacheris PM, Figueiredo MS, Michaelides K, Schwaab R, Hoyer LW, Kaufman RJ, Ginsburg D. Moderation of hemophilia A phenotype by the factor V R506Q mutation. Blood 1996; 88: 1183 – 7.en_US
dc.identifier.citedreferenceLee DH, Walker IR, Teitel J, Poon MC, Ritchie B, Akabutu J, Sinclair GD, Pai M, Wu JWY, Reddy S, Carter C, Growe G, Lillicrap D, Lam M, Blajchman MA. Effect of the factor V Leiden mutation on the clinical expression of severe hemophilia A. Thrombosis & Haemostasis 2000; 83: 387 – 91.en_US
dc.identifier.citedreferenceOrstavik KH, Magnus P, Reisner H, Berg K, Graham JB, Nance W. Factor VIII and factor IX in a twin population. Evidence for a major effect of ABO locus on factor VIII level. Am J Hum Genet 1985; 37: 89 – 101.en_US
dc.identifier.citedreferenceVossen CY, Hasstedt SJ, Rosendaal FR, Callas PW, Bauer KA, Broze GJ Jr, Hoogendoorn H, Long GL, Scott BT, Bovill EG. Heritability of plasma concentrations of clotting factors and measures of a prethrombotic state in a protein C-deficient family. J Thromb Haemost 2004; 2: 242 – 7.en_US
dc.identifier.citedreferenceSouto JC, Almasy L, Borrell M, Gari M, Martinez E, Mateo J, Stone WH, Blangero J, Fontcuberta J. Genetic determinants of hemostasis phenotypes in Spanish families. Circulation 2000; 101: 1546 – 51.en_US
dc.identifier.citedreferenceGill JC, Endres-Brooks J, Bauer PJ, Marks WJ, Montgomery RR. The effect of ABO blood group on the diagnosis of von Willebrand Disease. Blood 1987; 69: 1691 – 5.en_US
dc.identifier.citedreferenceSouto JC, Almasy L, Soria JM, Buil A, Stone W, Lathrop M, Blangero J, Fontcuberta J. Genome-wide linkage analysis of von Willebrand factor plasma levels: results from the GAIT project. Thromb Haemost 2003; 89: 468 – 74.en_US
dc.identifier.citedreferenceKamphuisen PW, Eikenboom JC, Bertina RM. Elevated factor VIII levels and the risk of thrombosis. Arterioscler Thromb Vasc Biol 2001; 21: 731 – 8.en_US
dc.identifier.citedreferenceMohlke KL, Nichols WC, Westrick RJ, Novak EK, Cooney KA, Swank RT, Ginsburg D. A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11. Proc Natl Acad Sci USA 1996; 93: 15352 – 7.en_US
dc.identifier.citedreferenceNichols WC, Cooney KA, Mohlke KL, Ballew JD, Yang A, Bruck ME, Reddington M, Novak EK, Swank RT, Ginsburg D. Willebrand disease in the RIIIS/J mouse is caused by a defect outside of the von Willebrand factor gene. Blood 1994; 83: 3225 – 31.en_US
dc.identifier.citedreferenceSweeney JD, Novak EK, Reddington M, Takeuchi KH, Swank RT. The RIIIS/J inbred mouse strain as a model for von Willebrand disease. Blood 1990; 76: 2258 – 65.en_US
dc.identifier.citedreferenceMohlke KL, Purkayastha AA, Westrick RJ, Smith PL, Petryniak B, Lowe JB, Ginsburg D. Mvwf, a dominant modifier of murine von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell 1999; 96: 111 – 20.en_US
dc.identifier.citedreferenceSchachter H. The clinical relevance of glycobiology. J Clin Invest 2001; 108: 1579 – 82.en_US
dc.identifier.citedreferenceMatsui T, Shimoyama T, Matsumoto M, Fujimura Y, Takemoto Y, Sako M, Hamako J, Titani K. ABO blood group antigens on human plasma von Willebrand factor after ABO-mismatched bone marrow transplantation. Blood 1999; 94: 2895 – 900.en_US
dc.identifier.citedreferenceVlot AJ, Mauser-Bunschoten EP, Zarkova AG, Haan E, Kruitwagen CLJJ, Sixma JJ, van den Berg HM. The half-life of infused factor VIII is shorter in hemophiliac patients with blood group O than in those with blood group A. Thrombosis & Haemostasis 2000; 83: 65 – 9.en_US
dc.identifier.citedreferenceBertina RM, Koeleman BPC, Koster T, Rosendaal FR, Dirven RJ, de Ronde H, van der Velden PA, Reitsma PH. Mutation in blood coagulation factor V associated with resistance to activated protein C. Nature 1994; 369: 64 – 7.en_US
dc.identifier.citedreferenceSvensson PJ, DahlbÄck B. Resistance to activated protein C as a basis for venous thrombosis. N Engl J Med 1994; 330: 517 – 22.en_US
dc.identifier.citedreferenceDahlbÄck B, Carlsson M, Svensson PJ. Familial thrombophilia due to a previously unrecognized mechanism characterized by poor anticoagulant response to activated protein C: prediction of a cofactor to activated protein C. Proc Natl Acad Sci USA 1993; 90: 1004 – 8.en_US
dc.identifier.citedreferencePrice DT, Ridker PM. Factor V Leiden mutation and the risks for thromboembolic disease: a clinical perspective. Ann Intern Med 1997; 127: 895 – 903.en_US
dc.identifier.citedreferenceZivelin A, Griffin JH, Xu X, Pabinger I, Samama M, Conard J, Brenner B, Eldor A, Seligsohn U. A single genetic origin for a common Caucasian risk factor for venous thrombosis. Blood 1997; 89: 397 – 402.en_US
dc.identifier.citedreferenceKerlin BA, Yan SB, Isermann BH, Brandt JT, Sood R, Basson BR, Joyce DE, Weiler H, Dhainaut JF. Survival advantage associated with heterozygous factor V Leiden mutation in patients with severe sepsis and in mouse endotoxemia. Blood 2003; 102: 3085 – 92.en_US
dc.identifier.citedreferenceCui J, Eitzman DT, Westrick RJ, Christie PD, Xu ZJ, Yang AY, Purkayastha AA, Yang TL, Metz AL, Gallagher KP, Tyson JA, Rosenberg RD, Ginsburg D. Spontaneous thrombosis in mice carrying the factor V Leiden mutation. Blood 2000; 96: 4222 – 6.en_US
dc.identifier.citedreferenceYin Z-F, Huang Z-F, Cui J, Fiehler R, Lasky N, Ginsburg D, Broze GJ Jr. Prothrombotic phenotype of protein Z deficiency. Proc Natl Acad Sci USA 2000; 97: 6734 – 8.en_US
dc.identifier.citedreferenceEitzman DT, Westrick RJ, Bi X, Manning SL, Wilkinson JE, Broze GJ Jr, Ginsburg D. Lethal perinatal thrombosis in mice resulting from the interaction of tissue factor pathway inhibitor deficiency and factor V Leiden. Circulation 2002; 105: 2139 – 42.en_US
dc.identifier.citedreferenceHuang Z-F, Higuchi D, Lasky N, Broze GJ Jr. Tissue factor pathway inhibitor gene disruption produces intrauterine lethality in mice. Blood 1997; 90: 944 – 51.en_US
dc.identifier.citedreferencevan't Veer C, Kalafatis M, Bertina RM, Simioni P, Mann KG. Increased tissue factor-initiated prothrombin activation as a result of the Arg506 –> Gln mutation in factor VLEIDEN. J Biol Chem 1997; 272: 20721 – 9.en_US
dc.identifier.citedreferenceVitaterna MH, King DP, Chang AM, Kornhauser JM, Lowrey PL, McDonald JD, Dove WF, Pinto LH, Turek FW, Takahashi JS. Mutagenesis and mapping of a mouse gene, Clock, essential for circadian behavior. Science 1994; 264: 719 – 25.en_US
dc.identifier.citedreferenceCarpinelli MR, Hilton DJ, Metcalf D, Antonchuk JL, Hyland CD, Mifsud SL, Di Rago L, Hilton AA, Willson TA, Roberts AW, Ramsay RG, Nicola NA, Alexander WS. Suppressor screen in Mpl-/- mice: c-Myb mutation causes supraphysiological production of platelets in the absence of thrombopoietin signaling. Proc Natl Acad Sci USA 2004; 101: 6553 – 8.en_US
dc.identifier.citedreferenceHrabe de Angelis MH, Flaswinkel H, Fuchs H, Rathkolb B, Soewarto D, Marschall S, Heffner S, Pargent W, Wuensch K, Jung M, Reis A, Richter T, Alessandrini F, Jakob T, Fuchs E, Kolb H, Kremmer E, Schaeble K, Rollinski B, Roscher A, Peters C, Meitinger T, Strom T, Steckler T, Holsboer F, Klopstock T, Gekeler F, Schindewolf C, Jung T, Avraham K, Behrendt H, Ring J, Zimmer A, Schughart K, Pfeffer K, Wolf E, Balling R. Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet 2000; 25: 444 – 7.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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