Ginsburg publications

Recent Articles

Baines A.C., Adams E.J., Zhang B., Ginsburg D. (2013). Disruption of the Sec24d Gene Results in Early Embryonic Lethality in the Mouse. PLoS ONE 8(4). PubMed link

Chen XW, Wang H, Bajaj K, Zhang P, Meng X, Ma D, Bai Y, Adams E, Baines A, Yu G, Sartor MA, Zhang B, Yi Z, Lin J, Young SG, Schekman R and Ginsburg D. (2013). SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion. eLife, 2e99444. PubMed link

Desch K.C., Ozel A.B., Siemieniak D., Kalish Y., Shavit J.A., Thornburg C.D., Sharathkumar A.A., McHugh C.P., Laurie C.C., Crenshaw A., Mirel D.B., Kim Y., Cropp C.D., Molloy A.M., Kirke P.N., Bailey-Wilson J.E., Wilson A.F., Mills J.L., Scott J.M., Brody L.C., Lib J.Z., Ginsburg D. (2013). Linkage analysis identifies a locus for plasma von Willebrand factor undetected by genome-wide association. Proceedings of the National Academy of Sciences of the United States of America 110(2):588-593. PubMed link

Everett L, Desch K, Ginsburg D. Molecular and Clinical Genetics. (2013).  In: Hemostasis and Thrombosis: Basic Principles and Clinical Practice, Marder VJ, Aird WC, Bennett JS, Schulman S, White, II GC (eds), Sixth Edition, (Philadelphia: Lippincott Williams & Wilkins), p. 26-40.

Zhang B and Ginsburg D. Familial multiple coagulation factor deficiencies. (2013). In: Hemostasis and Thrombosis: Basic Principles and Clinical Practice, Marder VJ, Aird WC, Bennett JS, Schulman S, White, II GC (eds), Sixth Edition, (Philadelphia:  Lippincott Williams & Wilkins), p. 709-714.

Tao J., Zhu M., Wang H., Afelik S., Vasievich M.P., Chen X.-W., Zhu G., Jensen J., Ginsburg D., Zhang B. (2012). SEC23B is required for the maintenance of murine professional secretory tissues. Proceedings of the National Academy of Sciences of the United States of America 109(29):E2001-E2009. PubMed link

Khoriaty R, Vasievich MP, Ginsburg D. (2012). The COPII pathway and hematologic disease.  Blood 120(1):31-38. PMCID: PMC3390960 PubMed link

Ginsburg D., et al. (2012). Detectable clonal mosaicism from birth to old age and its relationship to cancer. Nature Genetics 44(6):642-650. PubMed link

Sun H., Xu Y., Sitkiewicz I., Ma Y., Wang X., Yestrepsky B.D., Huang Y., Lapadatescu M.C., Larsen M.J., Larsen S.D., Musser J.M., Ginsburg D. (2012). Inhibitor of streptokinase gene expression improves survival after group A streptococcus infection in mice. Proceedings of the National Academy of Sciences of the United States of America 109(9):3469-3474. PubMed link

Chen XW, Leto D, Xiao J, Goss J, Wang Q, Shavit JA, Xiong T, Yu G, Ginsburg D, Toomre D, Xu Z, Saltiel AR. (2011). The function of the exocyst is regulated by effector phosphorylation. Nat Cell Biol 13(5):580-588, 2011. PMID:21516108 PubMed link

Ginsburg D.  (2011). Genetics and genomics to the clinic: A long road ahead.  Cell 147(1):17-19. PubMed link

Zhang B., Zheng C., Zhu M., Tao J., Vasievich M.P., Baines A., Kim J., Schekman R., Kaufman R.J., Ginsburg D. (2011). Mice deficient in LMAN1 exhibit FV and FVIII deficiencies and liver accumulation of a1-antitrypsin. Blood 118(12):3384-3391. PubMed link

Desch K., Li J., Kim S., Laventhal N., Metzger K., Siemieniak D., Ginsburg D. (2011). Analysis of informed consent document utilization in a minimal-risk genetic study. Annals of Internal Medicine 155(5):316-322. PubMed link

Su E.J., Geyer M., Wahl M., Mann K., Ginsburg D., Brohmann H., Petersen K.U., Lawrence D.A. (2011). The thrombomodulin analog Solulin promotes reperfusion and reduces infarct volume in a thrombotic stroke model. Journal of Thrombosis and Haemostasis 9(6):1174-1182. PubMed link

Chen X.-W., Leto D., Xiao J., Goss J., Wang Q., Shavit J.A., Xiong T., Yu G., Ginsburg D., Toomre D., Xu Z., Saltiel A.R. (2011). Exocyst function regulated by effector phosphorylation. Nature Cell Biology 13(5):580-588. PubMed link

Peters L.L., Shavit J.A., Lambert A.J., Tsaih S.-W., Li Q., Su Z., Leduc M.S., Paigen B., Churchill G.A., Ginsburg D., Brugnara C. (2010). Sequence variation at multiple loci influences red cell hemoglobin concentration. Blood 116(25):139-149. PubMed link

Maamary P.G., Sanderson-Smith M.L., Aziz R.K., Hollands A., Cole J.N., McKay F.C., McArthur J.D., Kirk J.K., Cork A.J., Keefe R.J., Kansal R.G., Sun H., Taylor W.L., Chhatwal G.S., Ginsburg D., Nizet V., Kotb M., Walker M.J. (2010). Parameters governing invasive disease propensity of non-M1 serotype group A Streptococci. Journal of Innate Immunity 2(6):596-606. PubMed link

Westrick R.J., Mohlke K.L., Korepta L.M., Yang A.Y., Zhu G., Manning S.L., Winn M.E., Dougherty K.M., Ginsburg D. (2010). Spontaneous Irs1 passenger mutation linked to a gene-targeted SerpinB2 allele. Proceedings of the National Academy of Sciences of the United States of America 107(39):16904-16909. PubMed link

Articles (2005-2009)

Shavit J.A., Manichaikul A., Lemmerhirt H.L., Broman K.W., Ginsburg D. (2009). Modifiers of von Willebrand factor identified by natural variation in inbred strains of mice. Blood 114(26):5368-5374. PubMed link

McCarroll S.A., Bradner J.E., Turpeinen H., Volin L., Martin P.J., Chilewski S.D., Antin J.H., Lee S.J., Ruutu T., Storer B., Warren E.H., Zhang B., Zhao L.P., Ginsburg D., Soiffer R.J., Partanen J., Hansen J.A., Ritz J., Palotie A., Altshuler D. (2009). Donor-recipient mismatch for common gene deletion polymorphisms in graft-versus-host disease. Nature Genetics 41(12):1341-1344. PubMed link

Sun H, Wang X, Grunz EA, Degen JL, Ginsburg D. (2009). Reduced thrombin generation increases host susceptibility to Group A streptococcal infection.  Blood 113(6):1358-1364.  PMCID: PMC2637198 PubMed link

Oncology of Infancy and Childhood. (2009).  Orkin SH, Fisher DE, Look AT, Lux SE, Ginsburg D, Nathan DG (eds), Saunders Elsevier, Philadelphia, PA.

Westrick RJ, Ginsburg D.  (2009). Modifier genes for disorders of thrombosis and hemostasis.  J Thromb Haemost (7 Suppl) 1:132-135. PubMed link

Shavit JA, Manichaikul A, Lemmerhirt HL, Broman KW, Ginsburg D.  (2009). Modifiers of von Willebrand factor identified by natural variation in inbred strains of mice.  Blood 114(26):5368-5374.  PMCID: PMC2796139 PubMed link

Fahim A.T., Wang H., Feng J., Ginsburg D. (2009). Transgenic overexpression of a stable Plasminogen Activator Inhibitor-1 variant. Thrombosis Research 123(5):785-792. PubMed link

Johnsen J.M., Teschke M., Pavlidis P., McGee B.M., Tautz D., Ginsburg D., Baines J.F. (2009). Selection on cis-regulatory variation at B4galnt2 and its influence on von Willebrand factor in house mice. Molecular Biology and Evolution 26(3):567-578. PubMed link

Nathan and Oski's Hematology of Infancy and Childhood, Seventh Edition (2009). Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE (eds), Saunders Elsevier, Philadelphia, PA.

Ginsburg D and Wagner DD. (2009). Structure, biology and genetics of von Willebrand factor. In:  Hematology: Basic Principles and Practice, Hoffman R, Benz EJ, Jr., Shattil SJ, Furie B, Silberstein LE, McGlave P, Heslop H (eds), Fifth Edition, (Philadelphia: Churchill Livingstone Elsevier), p.1953-1960.

Sun H., Wang X., Degen J.L., Ginsburg D. (2009). Reduced thrombin generation increases host susceptibility to group A streptococcal infection. Blood 113(6):1358-1364. PubMed link

Zhang B., Spreafico M., Zheng C., Yang A., Platzer P., Callaghan M.U., Avci Z., Ozbek N., Mahlangu J., Haw T., Kaufman R.J., Marchant K., Tuddenham E.G.D., Seligsohn U., Peyvandi F., Ginsburg D. (2008). Genotype-phenotype correlation in combined deficiency of factor v and factor VIII. Blood 111(12):5592-5600. PubMed link

Chauhan A.K., Walsh M.T., Zhu G., Ginsburg D., Wagner D.D., Motto D.G. (2008). The combined roles of ADAMTS13 and VWF in murine models of TTP, endotoxemia, and thrombosis. Blood 111(7):3452-3457. PubMed link

Johnsen J.M., Levy G.G., Westrick R.J., Tucker P.K., Ginsburg D. (2008). The endothelial-specific regulatory mutation, Mvwf1, is a common mouse founder allele. Mammalian Genome 19(1):32-40. PubMed link

Tan FL, Ginsburg D. (2007). What a polyclonal antibody sees in von Willebrand factor. Thromb Res 121(4):519-526. PMCID: PMC2258224 PubMed link

Ginsburg D. (2007). Hemophilias and Other Disorders of Hemostasis.  In: Emery and Rimoin's Principles and Practice of Medical Genetics, Rimoin DL, Connor JM, Pyeritz RE, Korf BR (eds), Fifth Edition, (Philadelphia: Churchill Livingstone Elsevier), p. 1699-1726.

Oney S., Nimjee S.M., Layzer J., Que-Gewirth N., Ginsburg D., Becker R.C., Arepally G., Sullenger B.A. (2007). Antidote-controlled platelet inhibition targeting von Willebrand factor with aptamers. Oligonucleotides 17(3):265-274. PubMed link

Buchner D.A., Su F., Yamaoka J.S., Kamei M., Shavit J.A., Barthel L.K., McGee B., Amigo J.D., Kim S., Hanosh A.W., Jagadeeswaran P., Goldman D., Lawson N.D., Raymond P.A., Weinstein B.M., Ginsburg D., Lyons S.E. (2007). pak2a mutations cause cerebral hemorrhage in redheadzebrafish. Proceedings of the National Academy of Sciences of the United States of America 104(35):13996-14001. PubMed link

Tan, F.L., & Ginsburg, D. What a polyclonal antibody sees in von Willebrand factor. Thrombosis Research (in press). PubMed link

Zhu, A., Sun, H., Raymond, R.M., Furie, B.C., Bronstein, M., Kaufman, R.J., Westrick, R., & Ginsburg, D. (2007). Fatal hemorrhage in mice lacking gamma-glutamyl carboxylase. Blood 109, 5270-5. PubMed link

Lemmerhirt, H.L., Broman, K.W., Shavit, J.A., & Ginsburg, D. (2007). Genetic regulation of plasma von Willebrand factor levels: quantitative trait loci analysis in a mouse model. J Thromb Haemost 5, 329-35. PubMed link

Seligsohn, U., & Ginsburg, D. (2006). Deciphering the mystery of combined factor V and factor VIII deficiency. J Thromb Haemost 4, 927-31. PubMed link

Nyfeler, B., Zhang, B., Ginsburg, D., Kaufman, R.J., & Hauri, H.P. (2006). Cargo selectivity of the ERGIC-53/MCFD2 transport receptor complex. Traffic 7, 473-81. PubMed link

Zhang, B., McGee, B., Yamaoka, J. S., Guglielmone, H., Downes, K. A., Minoldo, S., Jarchum, G., Peyvandi, F., de Bosch, N. B., Ruiz-Saez, A., Chatelain, B., Olpinski, M., Bockenstedt, P., Sperl, W., Kaufman, R. J., Nichols, W. C., Tuddenham, E. G. D., & Ginsburg, D. (2006). Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2. Blood, 107, 1903-1907. PubMed link

Lemmerhirt, H.L., Shavit, J.A., Levy, G.G., Cole, S.M., Long, J.C., and Ginsburg, D. (2006). Enhanced VWF biosynthesis and elevated plasma VWF due to a natural variant in the murine Vwf gene. Blood 108, 3061-7. PubMed link

Cole, J.N., McArthur, J.D., McKay, F.C., Sanderson-Smith, M.L., Cork, A.J., Ranson, M., Rohde, M., Itzek, A., Sun, H., Ginsburg, D., Kotb, M., Nizet, V., Chhatwal, G.S., and Walker, M.J. (2006). Trigger for group A streptococcal M1T1 invasive disease. FASEB J. 20, 1745-7. PubMed link

Crawford, G. E., Holt, I. E., Whittle, J., Webb, B. D., Tai, D., Davis, S., Margulies, E. H., Chen, Y. D., Bernat, J. A., Ginsburg, D., Zhou, D. X., Luo, S. J., Vasicek, T. J., Daly, M. J., Wolfsberg, T. G., & Collins, F. S. (2006). Genome-wide mapping of DNase hypersensitive sites using massively parallel signature sequencing (MPSS). Genome Research, 16, 123-131. PubMed link

Bernat, J. A., Crawford, G. E., Ogurtsov, A. Y., Collins, F. S., Ginsburg, D., & Kondrashov, A. S. (2006). Distant conserved sequences flanking endothelial-specific promoters contain tissue-specific DNase-hypersensitive sites and over-represented motifs. Human Molecular Genetics, 15, 2098-2105. PubMed link

Chauhan, A. K., Motto, D. G., Lamb, C. B., Bergmeier, W., Dockal, M., Plaimauer, B., Scheiflinger, F., Ginsburg, D., & Wagner, D. D. (2006). Systemic antithrombotic effects of ADAMTS13. Journal of Experimental Medicine, 203, 767-776. PubMed link

Seligsohn, U., & Ginsburg, D. (2006). Deciphering the mystery of combined factor V and factor VIII deficiency. Journal of Thrombosis and Haemostasis, 4, 927-931. PubMed link

Eitzman, D. T., Westrick, R. J., Shen, Y. C., Bodary, P. F., Gu, S. F., Manning, S. L., Dobies, S. L., & Ginsburg, D. (2005). Homozygosity for factor V Leiden leads to enhanced thrombosis and atherosclerosis in mice. Circulation, 111, 1822-1825. PubMed link

Sirachainan, N., Zhang, B., Chuansumrit, A., Pipe, S., Sasanakul, W., & Ginsburg, D. (2005). Combined factor V and factor VIII deficiency in a Thai patient: A case report of genotype and phenotype characteristics. Haemophilia, 11, 280-284. PubMed link

Zhou, W. H., Dong, L. L., Ginsburg, D., Bouhassira, E. E., & Tsai, H. M. (2005). Enzymatically active ADAMTS13 variants are not inhibited by anti-ADAMTS13 autoantibodies - A novel therapeutic strategy? Journal of Biological Chemistry, 280, 39934-39941. PubMed link

Motto, D. G., Chauhan, A. K., Zhu, G. J., Homeister, J., Lamb, C. B., Desch, K. C., Zhang, W. R., Tsai, H. M., Wagner, D. D., & Ginsburg, D. (2005). Shigatoxin triggers thrombotic thrombocytopenic purpura in genetically susceptible ADAMTS13-deficient mice. Journal of Clinical Investigation, 115, 2752-2761. PubMed link

Ginsburg, D. (2005). Identifying novel genetic determinants of hemostatic balance. Journal of Thrombosis and Haemostasis, 3, 1561-1568. PubMed link

Articles (2000-2004)

Segal, A., Zivelin, A., Rosenberg, N., Ginsburg, D., Shpilberg, O., & Seligsohn, U. (2004). 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 Coagulation & Fibrinolysis, 15, 99-102. PubMed link

Sun, H. M., Ringdahl, U., Homeister, J. W., Fay, W. P., Engleberg, N. C., Yang, A. Y., Rozek, L. S., Wang, X. X., Sjobring, U., & Ginsburg, D. (2004). Plasminogen is a critical host pathogenicity factor for group A streptococcal infection. Science, 305, 1283-1286. PubMed link

Sun, H. M., Yang, T. L., Yang, A., Wang, X. X., & Ginsburg, D. (2003). The murine platelet and plasma factor V pools are biosynthetically distinct and sufficient for minimal hemostasis. Blood, 102, 2856-2861. PubMed link

Savasan, S., Lee, S. K., Ginsburg, D., & Tsai, H. M. (2003). ADAMTS13 gene mutation in congenital thrombotic thrombocytopenic purpura with previously reported normal VWF cleaving protease activity. Blood, 101, 4449-4451. PubMed link

Cunningham, M. A., Pipe, S. W., Zhang, B., Hauri, H. P., Ginsburg, D., & Kaufman, R. J. (2003). LMAN1 is a molecular chaperone for the secretion of coagulation factor VIII. Journal of Thrombosis and Haemostasis, 1, 2360-2367. PubMed link

Becker, D. J., Myers, J. T., Ruff, M. M., Smith, P. L., Gillespie, B. W., Ginsburg, D., & Lowe, J. B. (2003). Strain-specific modification of lethality in fucose-deficient mice. Mammalian Genome, 14, 130-139. PubMed link

Zhang, B., Cunningham, M. A., Nichols, W. C., Bernat, J. A., Seligsohn, U., Pipe, S. W., McVey, J. H., Schulte-Overberg, U., de Bosch, N. B., Ruiz-Saez, A., White, G. C., Tuddenham, E. G. D., Kaufman, R. J., Ginsburg, D. (2003). Bleeding due to disruption of a cargo-specific ER to Golgi transport complex. Nature Genetics, 34, 220-225. PubMed link

Eitzman, D. T., Westrick, R. J., Bi, X. M., Manning, S. L., Wilkinson, J. E., Broze, G. J., & Ginsburg, D. (2002). Lethal perinatal thrombosis in mice resulting from the interaction of tissue factor pathway inhibitor deficiency and factor V Leiden. Circulation, 105, 2139-2142. PubMed link

Ellies, L. G., Ditto, D., Levy, G. G., Wahrenbrock, M., Ginsburg, D., Varki, A., Le, D. T., & Marth, J. D. (2002). Sialyltransferase ST3Gal-IV operates as a dominant modifier of hemostasis by concealing asialoglycoprotein receptor ligands. Proceedings of the National Academy of Sciences of the USA, 99, 10042-10047. PubMed link

McMahon, G. A., Petitclerc, E., Stefansson, S., Smith, E., Wong, M. K. K., Westrick, R. J., Ginsburg, D., Brooks, P. C., & Lawrence, D. A. (2001). Plasminogen activator inhibitor-1 regulates tumor growth and angiogenesis. Journal of Biological Chemistry, 276, 33964-33968. PubMed link

Levy, G. G., Nichols, W. C., Lian, E. C., Foroud, T., McClintick, J. N., McGee, B. M., Yang, A. Y., Siemieniak, D. R., Stark, K. R., Gruppo, R., Sarode, R., Shurin, S. B., Chandrasekaran, V., Stabler, S. P., Sabio, H., Bouhassira, E. E., Upshaw, J. D., Ginsburg, D., Tsai, H. M. (2001). Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura. Nature, 413, 488-494. PubMed link

Goodeve, A. C., Eikenboom, J. C. J., Ginsburg, D., Hilbert, L., Mazurier, C., Peake, I. R., Sadler, J. E., & Rodeghiero, F. (2001). A standard nomenclature for von Willebrand factor gene mutations and polymorphisms. Thrombosis and Haemostasis, 85, 929-931. PubMed link

Levy, G., & Ginsburg, D. (2001). Getting at the variable expressivity of von Willebrand disease. Thrombosis and Haemostasis, 86, 144-148. PubMed link

Sjöland, H., Eitzman, D. T., Gordon, D., Westrick, R., Nabel, E. G., & Ginsburg, D. (2000). Atherosclerosis progression in LDL receptor-deficient and apolipoprotein E-deficient mice is independent of genetic alterations in plasminogen activator inhibitor-1. Arteriosclerosis, Thrombosis and Vascular Biology, 20, 846-852. PubMed link

Eitzman, D. T., Westrick, R. J., Xu, Z. J., Tyson, J., & Ginsburg, D. (2000). Hyperlipidemia promotes thrombosis following injury to atherosclerotic vessels in apolipoprotein E-deficient mice. Arteriosclerosis, Thrombosis and Vascular Biology, 20, 1831-1834. PubMed link

Eitzman, D. T., Westrick, R. J., Nabel, E. G., & Ginsburg, D. (2000). Plasminogen activator inhibitor-1 and vitronectin promote vascular thrombosis in mice. Blood, 95, 577-580. PubMed link

Cui, J. S., Eitzman, D. T., Westrick, R. J., Christie, P. D., Xu, Z. J. J., Yang, A. Y., Purkayastha, A. A., Yang, T. L., Metz, A. L., Gallagher, K. P., Tyson, J. A., Rosenberg, R. D., & Ginsburg, D. (2000). Spontaneous thrombosis in mice carrying the factor V Leiden mutation. Blood, 96, 4222-4226. PubMed link

Articles (1990-1999)

Mohlke, K. L., Purkayastha, A. A., Westrick, R. J., Smith, P. L., Petryniak, B., Lowe, J. B., Ginsburg, D. (1999). Mvwf, a dominant modifier of von Willebrand factor, results from altered lineage-specific expression of a glycosyltransferase. Cell, 96, 111-120. PubMed link

Ginsburg, D. (1999). The molecular biology of von Willebrand disease. Haemophilia, 5 (Suppl 2), 19-27.

Moussalli, M., Pipe, S. W., Hauri, H. P., Nichols, W. C., Ginsburg, D., & Kaufman, R. J. (1999). Mannose-dependent endoplasmic reticulum (ER)-Golgi intermediate compartment-53-mediated ER to Golgi trafficking of coagulation factors V and VIII. Journal of Biological Chemistry, 274, 32539-32542. PubMed link

Dougherty, K. M., Pearson, J. M., Yang, A. Y., Westrick, R. J., Baker, M. S., & Ginsburg, D. (1999). The plasminogen activator inhibitor-2 gene is not required for normal murine development or survival. Proceedings of the National Academy of Sciences of the USA, 96, 686-691. PubMed link

Sharp, A. M., Stein, P. E., Pannu, N. S., Carrell, R. W., Berkenpas, M. B., Ginsburg, D., Lawrence, D. A., & Read, R. J. (1999). The active conformation of plasminogen activator inhibitor-1, a target for drugs to control fibrinolysis and cell adhesion. Structure, 7, 111-118. PubMed link

Ginsburg, D. (1999). Molecular genetics of von Willebrand disease. Thrombosis and Haemostasis, 82, 585-591. PubMed link

Yang, T. L., Cui, J. S., Rehumtulla, A., Yang, A., Moussalli, M., Kaufman, R. J., & Ginsburg, D. (1998). The structure and function of murine factor V and its inactivation by protein C. Blood, 91, 4593-4599. PubMed link

Nichols, W. C., Seligsohn, U., Zivelin, A., Terry, V. H., Hertel, C. E., Wheatley, M. A., Moussalli, M. J., Hauri, H. P., Ciavarella, N., Kaufman, R. J., & Ginsburg, D. (1998). Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII. Cell, 93, 61-70. PubMed link

Mohlke, K. L., Purkayastha, A. A., Westrick, R. J., & Ginsburg, D. (1998). Comparative mapping of distal murine chromosome 11 and human 17q21.3 in a region containing a modifying locus for murine plasma von Willebrand factor level. Genomics, 54, 19-30. PubMed link

Ginsburg, D., Nichols, W. C., Zivelin, A., Kaufman, R. J., & Seligsohn, U. (1998). Combined factors V and VIII deficiency - the solution. Haemophilia, 4, 677-682. PubMed link

Risse, B. C., Brown, H., Lavker, R. M., Pearson, J. M., Baker, M. S., Ginsburg, D., & Jensen, P. J. (1998). Differentiating cells of murine stratified squamous epithelia constitutively express plasminogen activator inhibitor type 2 (PAI-2). Histochemistry and Cell Biology, 110, 559-569. PubMed link

Lavker, R. M., Risse, B., Brown, H., Ginsburg, D., Pearson, J., Baker, M. S., & Jensen, P. J. (1998). Localization of plasminogen activator inhibitor type 2 (PAI-2) in hair and nail: Implications for terminal differentiation. Journal of Investigative Dermatology, 110, 917-922. PubMed link

Eitzman, D. T., & Ginsburg, D. (1997). Of mice and men - The function of plasminogen activator inhibitors (PAIs) in vivo. Advances in Experimental Medicine and Biology, 425, 131-141. PubMed link

Tsai, H. M., Sussman, I. I., Ginsburg, D., Lankhof, H., Sixma, J. J., & Nagel, R. L. (1997). Proteolytic cleavage of recombinant type 2A von Willebrand factor mutants R834W and R834Q: Inhibition by doxycycline and by monoclonal antibody VP-1. Blood, 89, 1954-1962. PubMed link

Lawrence, D. A., Palaniappan, S., Stefansson, S., Olson, S. T., Francis-Chmura, A. M., Shore, J. D., & Ginsburg, D. (1997). Characterization of the binding of different conformational forms of plasminogen activator inhibitor-1 to vitronectin - Implications for the regulation of pericellular proteolysis. Journal of Biological Chemistry, 272, 7676-7680. PubMed link

Nichols, W. C., Seligsohn, U., Zivelin, A., Terry, V. H., Arnold, N. D., Siemieniak, D. R., Kaufman, R. J., & Ginsburg D. (1997). Linkage of combined factors V and VIII deficiency to chromosome 18q by homozygosity mapping. Journal of Clinical Investigation, 99, 596-601. PubMed link

Nichols, W. C., Koller, D., Slovis, B., Foroud, T., Terry, V. H., Arnold, N. D., Siemieniak, D. R., Wheeler, L., Phillips, J. A., Newman, J. H., Conneally, P. M., Ginsburg, D., Loyd, J. E. (1997). Localization of the gene for familial primary pulmonary hypertension to chromosome 2q31-32. Nature Genetics, 15, 277-280. PubMed links

Articles (1990-1996)

Cooney, K. A., & Ginsburg, D. (1996). Comparative analysis of type 2b von Willebrand disease mutations: Implications for the mechanism of von Willebrand factor binding to platelets. Blood, 87, 2322-2328. PubMed link

Eitzman, D. T., Krauss, J. C., Shen, T. L., Cui, J. S., & Ginsburg, D. (1996). Lack of plasminogen activator inhibitor-1 effect in a transgenic mouse model of metastatic melanoma. Blood, 87, 4718-4722. PubMed link

Nichols, W. C., Amano, K., Cacheris, P. M., Figueiredo, M. S., Michaelides, K., Schwaab, R., Hoyer, L., Kaufman, R. J., & Ginsburg, D. (1996). Moderation of hemophilia A phenotype by the Factor V R506Q mutation. Blood, 88, 1183-1187. PubMed link

Nichols, W. C., Antin, J. H., Lunetta, K. L., Terry, V. H., Hertel, C. E., Wheatley, M. A., Arnold, N. D., Siemieniak, D. R., Boehnke, M., & Ginsburg, D. (1996). Polymorphism of adhesion molecule CD31 is not a significant risk factor for graft-versus-host disease. Blood, 88, 4429-4434. PubMed link

Mohlke, K. L., Nichols, W. C., Rehemtulla, A., Kaufman, R. J., Fagerstrom, H. M., Ritvanen, K. L. A., Kekomaki, R., & Ginsburg, D. (1996). A common frameshift mutation in von Willebrand factor does not alter mRNA stability but interferes with normal propeptide processing. British Journal of Haematology, 95, 184-191. PubMed link

Eitzman, D. T., McCoy, R. D., Zheng, X. X., Fay, W. P., Shen, T. L., Ginsburg, D., & Simon, R. H. (1996). Bleomycin-induced pulmonary fibrosis in transgenic mice that either lack or overexpress the murine plasminogen activator inhibitor-1 gene. Journal of Clinical Investigation, 97, 232-237. PubMed link

Pipe, S. W., Schmaier, A. H., Nichols, W. C., Ginsburg, D., Bozynski, M. E. A., & Castle, V. P. (1996). Neonatal purpura fulminans in association with factor V R506Q mutation. Journal of Pediatrics, 128, 706-709. PubMed link

Cui, J. S., O'Shea, K. S., Purkayastha, A., Saunders, T. L., & Ginsburg, D. (1996). Fatal haemorrhage and incomplete block to embryogenesis in mice lacking coagulation factor V. Nature, 384, 66-68. PubMed link

Mohlke, K. L., Nichols, W. C., Westrick, R. J., Novak, E. K., Cooney, K. A., Swank, R. T., & Ginsburg, D. (1996). A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11. Proceedings of the National Academy of Sciences of the USA , 93, 15352-15357. PubMed link

Berkenpas, M. B., Lawrence, D. A., & Ginsburg, D. (1995). Molecular evolution of plasminogen activator inhibitor-1 functional stability. EMBO Journal, 14, 2969-2977. PubMed link

Shore, J. D., Day, D. E., Francis-Chmura, A. M., Verhamme, I., Kvassman, J., Lawrence, D. A., & Ginsburg, D. (1995). A fluorescent probe study of plasminogen activator inhibitor-1 - Evidence for reactive center loop insertion and its role in the inhibitory mechanism. Journal of Biological Chemistry, 270, 5395-5398. PubMed link

Sherman, P. M., Lawrence, D. A., Verhamme, I. M., Paielli, D., Shore, J. D., & Ginsburg, D. (1995). Identification of tissue-type plasminogen activator-specific plasminogen activator inhibitor-1 mutants - Evidence that second sites of interaction contribute to target specificity. Journal of Biological Chemistry, 270, 9301-9306. PubMed link

Olson, S. T., Bock, P. E., Kvassman, J., Shore, J. D., Lawrence, D. A., Ginsburg, D., Björk, I. (1995). Role of the catalytic serine in the interactions of serine proteinases with protein inhibitors of the serpin family - Contribution of a covalent interaction to the binding energy of serpin-proteinase complexes. Journal of Biological Chemistry, 270, 30007-30017. PubMed link

Zheng, X. X., Saunders, T. L., Camper, S. A., Samuelson, L. C., & Ginsburg, D. (1995). Vitronectin is not essential for normal mammalian development and fertility. Proceedings of the National Academy of Sciences of the USA, 92, 12426-12430.

Lawrence, D. A., Olson, S. T., Palaniappan, S., & Ginsburg, D. (1994). Engineering plasminogen activator inhibitor-1 mutants with increased functional stability. Biochemistry, 33, 3643-3648. PubMed link

Fay, W. P., Eitzman, D. T., Shapiro, A. D., Madison, E. L., & Ginsburg, D. (1994). Platelets inhibit fibrinolysis in vitro by both plasminogen activator inhibitor-1 dependent and inhibitor-1 independent mechanisms. Blood, 83, 351-356. PubMed link

Lyons, S. E., Cooney, K. A., Bockenstedt, P., & Ginsburg, D. (1994). Characterization of Leu777Pro and Ile865Thr type IIA von Willebrand disease mutations. Blood, 83, 1551-1557. PubMed link

Nichols, W. C., Cooney, K. A., Mohlke, K. L., Ballew, J. D., Yang, A., Bruck, M. E., Reddington, M., Novak, E. K., Swank, R. T., & Ginsburg, D. (1994). von Willebrand disease in the RIIIS/J mouse is caused by a defect outside of the von Willebrand factor gene. Blood, 83, 3225-3231. PubMed link

Lawrence, D. A., Berkenpas, M. B., Palaniappan, S., & Ginsburg, D. (1994). Localization of the vitronectin binding domain in plasminogen activator inhibitor-1. Journal of Biological Chemistry, 269, 15223-15228. PubMed link

Lawrence, D. A., Olson, S. T., Palaniappan, S., & Ginsburg, D. (1994). Serpin reactive center loop mobility is required for inhibitor but not for enzyme recognition. Journal of Biological Chemistry, 269, 27657-27662. PubMed link

Piétu, G., Ribba, A. S., Chérel, G., Siguret, V., Obert, B., Rouault, C., Ginsburg, D., & Meyer, D. (1994). Epitope mapping of inhibitory monoclonal antibodies to human von Willebrand factor by using recombinant cDNA libraries. Thrombosis and Haemostasis, 71, 788-792. PubMed link

Lyons, S. E., & Ginsburg, D. (1994). Molecular and cellular biology of von Willebrand factor. Trends in Cardiovascular Medicine, 4, 34-39.

Naski, M. C., Lawrence, D. A., Mosher, D. F., Podor, T. J., & Ginsburg, D. (1993). Kinetics of inactivation of alpha-thrombin by plasminogen activator inhibitor-1 - Comparison of the effects of native and urea-treated forms of vitronectin. Journal of Biological Chemistry, 268, 12367-12372. PubMed link

Ginsburg, D., & Sadler, J. E. (1993). von Willebrand disease - A database of point mutations, insertions, and deletions. Thrombosis and Haemostasis, 69, 177-184. PubMed link

Sadler, J. E., & Ginsburg, D. (1993). A database of polymorphisms in the von Willebrand factor gene and pseudogene. Thrombosis and Haemostasis, 69, 185-191. PubMed link

Roth, M. S., Antin, J. H., Ash, R., Terry, V. H., Gotlieb, M., Silver, S. M., & Ginsburg, D. (1992). Prognostic significance of Philadelphia chromosome-positive cells detected by the polymerase chain reaction after allogeneic bone marrow transplant for chronic myelogenous leukemia. Blood, 79, 276-282. PubMed link

Ginsburg, D. (1992). Biology of inherited coagulopathies - von Willebrand factor. Hematology/Oncology Clinics of North America, 6, 1011-1020. PubMed link

Lyons, S. E., Bruck, M. E., Bowie, E. J. W., & Ginsburg, D. (1992). Impaired intracellular transport produced by a subset of type IIA von Willebrand disease mutations. Journal of Biological Chemistry, 267, 4424-4430. PubMed link

Sherman, P. M., Lawrence, D. A., Yang, A. Y., Vandenberg, E. T., Paielli, D., Olson, S. T., Shore, J. D., & Ginsburg, D. (1992). Saturation mutagenesis of the plasminogen activator inhibitor-1 reactive center. Journal of Biological Chemistry, 267, 7588-7595. PubMed link

Cooney, K. A., Lyons, S. E., & Ginsburg, D. (1992). Functional analysis of a type IIB von Willebrand disease missense mutation - Increased binding of large von Willebrand factor multimers to platelets. Proceedings of the National Academy of Sciences of the USA, 89, 2869-2872. PubMed link

Ginsburg, D., Bockenstedt, P. L., Allen, E. A., Fox, D. A., Foster, P. A., Ruggeri, Z. M., Zimmerman, T. S., Montgomery, R. R., Bahou, W. F., Johnson, T. A., & Yang, A. Y. (1992). Fine mapping of monoclonal antibody epitopes on human von Willebrand factor using a recombinant peptide library. Thrombosis and Haemostasis, 67, 166-171. PubMed link

Iannuzzi, M. C., Hidaka, N., Boehnke, M., Bruck, M. E., Hanna, W. T., Collins, F. S., & Ginsburg, D. (1991). Analysis of the relationship of von Willebrand disease (vWD) and hereditary hemorrhagic telangiectasia and identification of a potential type-IIA vWD mutation (IIe865 to Thr). American Journal of Human Genetics, 48, 757-763. PubMed link

Cooney, K. A., Nichols, W. C., Bruck, M. E., Bahou, W. F., Shapiro, A. D., Bowie, E. J. W., Gralnick, H. R., & Ginsburg, D. (1991). The molecular defect in type-IIB von Willebrand disease - Identification of four potential missense mutations within the putative Gplb binding domain. Journal of Clinical Investigation, 87, 1227-1233. PubMed link

Ginsburg, D. (1991). The von Willebrand factor gene and genetics of von Willebrand disease. Mayo Clinic Proceedings, 66, 506-15. PubMed link

Chottiner, E. G., Shewach, D. S., Datta, N. S., Ashcraft, E., Gribbin, D., Ginsburg, D., Fox, I. H., & Mitchell, B. S. (1991). Cloning and expression of human deoxycytidine kinase cDNA. Proceedings of the National Academy of Sciences of the USA, 88, 1531-1535. PubMed link

Nichols, W. C., Lyons, S. E., Harrison, J. S., Cody, R. L., & Ginsburg, D. (1991). Severe von Willebrand disease due to a defect at the level of von Willebrand factor mRNA expression: Detection by exonic PCR-restriction fragment length polymorphism analysis. Proceedings of the National Academy of Sciences of the USA, 88, 3857-3861. PubMed link

Sieving, P. A., Bingham, E. L., Roth, M. S., Young, M. R., Boehnke, M., Kuo, C. Y., & Ginsburg, D. (1990). Linkage relationship of X-linked juvenile retinoschisis with Xp22.1-p22.3 probes. American Journal of Human Genetics, 47, 616-621. PubMed link

Engelke, D. R., Krikos, A., Bruck, M. E., & Ginsburg, D. (1990). Purification of thermus aquaticus DNA polymerase expressed in Escherichia coli. Analytical Biochemistry, 191, 396-400.

Roth, M. S., Weiner, G. J., Allen, E. A., Terry, V. H., Harnden, C. E., Boehnke, M., Kaminski, M. S., & Ginsburg, D. (1990). Molecular characterization of anti-idiotype antibody-resistant variants of a murine B cell lymphoma. Journal of Immunology, 145, 768-777. PubMed link

Roth, M. S., Antin, J. H., Bingham, E. L., & Ginsburg, D. (1990). Use of polymerase chain reaction-detected sequence polymorphisms to document engraftment following allogeneic bone marrow transplantation. Transplantation, 49, 714-720. PubMed link

Articles (1985-1989)

Chottiner, E. G., Ginsburg, D., Tartaglia, A. P., & Mitchell, B. S. (1989). Erythrocyte adenosine-deaminase overproduction in hereditary hemolytic anemia. Blood, 74, 448-453. PubMed link

Roth, M. S., Antin, J. H., Bingham, E. L., & Ginsburg, D. (1989). Detection of Philadelphia chromosome-positive cells by the polymerase chain reaction following bone marrow transplant for chronic myelogenous leukemia. Blood, 74, 882-885. PubMed link

Follo, M., & Ginsburg, D. (1989). Structure and expression of the human gene encoding plasminogen activator inhibitor, PAI-1. Gene, 84, 447-453. PubMed link

Bahou, W. F., Ginsburg, D., Sikkink, R., Litwiller, R., & Fass, D. N. (1989). A monoclonal antibody to von Willebrand factor (VWF) inhibits factor VIII binding - Localization of its antigenic determinant to a nonadecapeptide at the amino terminus of mature VWF polypeptide. Journal of Clinical Investigation, 84, 56-61. PubMed link

Ginsburg, D., Konkle, B. A., Gill, J. C., Montgomery, R. R., Bockenstedt, P. L., Johnson, T. A., & Yang, A. Y. (1989). Molecular basis of human von Willebrand disease - Analysis of platelet von Willebrand factor messenger RNA. Proceedings of the National Academy of Sciences of the USA, 86, 3723-3727. PubMed link

Roth, M. S., Schnitzer, B., Bingham, E. L., Harnden, C. E., Hyder, D. M., & Ginsburg, D. (1988). Rearrangement of immunoglobulin and T-cell receptor genes in Hodgkin's disease. American Journal of Pathology, 131, 331-338. PubMed link

Bahou, W. F., Bowie, E. J. W., Fass, D. N., & Ginsburg, D. (1988). Molecular genetic analysis of porcine von Willebrand disease - Tight linkage to the von Willebrand factor locus. Blood, 72, 308-313. PubMed link

Schnitzer, B., Roth, M. S., Hyder, D. M., & Ginsburg, D. (1988). Ki-1 lymphomas in children. Cancer, 61, 1213-1221. PubMed link

Konkle, B. A., & Ginsburg, D. (1988). The addition of endothelial cell growth factor and heparin to human umbilical vein endothelial cell cultures decreases plasminogen activator inhibitor-1 expression. Journal of Clinical Investigation, 82, 579-585. PubMed link

Headington, J. T., Roth, M. S., Ginsburg, D., Lichter, A. S., Hyder, D., & Schnitzer, B. (1987). T-cell receptor gene rearrangement in regressing atypical histiocytosis. Archives of Dermatology, 123, 1183-1187. PubMed link

Goldberg, M. A., Ginsburg, D., Mayer, R. J., Stone, R. M., Maguire, M., Rosenthal, D. S., & Antin, J. H. (1987). Is heparin administration necessary during induction chemotherapy for patients with acute promyelocytic leukemia? Blood, 69, 187-191. PubMed link

Iannuzzi, M. C., Konkle, B. A., Ginsburg, D., & Collins, F. S. (1987). RsaI RFLP in the human von Willebrand factor gene. Nucleic Acids Research, 15, 5909. PubMed link

Ginsburg, D., Zeheb, R., Yang, A. Y., Rafferty, U. M., Andreasen, P. A., Nielsen, L., Dano, K., Lebo, R. V., & Gelehrter, T. D. (1986). cDNA cloning of human plasminogen activator-inhibitor from endothelial cells. Journal of Clinical Investigation, 78, 1673-1680. PubMed link

Bonthron, D. T., Handin, R. I., Kaufman, R. J., Wasley, L. C., Orr, E. C., Mitsock, L. M., Ewenstein, B., Loscalzo, J., Ginsburg, D., & Orkin, S. H. (1986). Structure of pre-pro-von Willebrand factor and its expression in heterologous cells. Nature, 324, 270-273. PubMed link

Bonthron, D., Orr, E. C., Mitsock, L. M., Ginsburg, D., Handin, R. I., & Orkin, S. H. (1986). Nucleotide sequence of pre-pro-von Willebrand factor cDNA. Nucleic Acids Research, 14, 7125-7127. PubMed link

Fay, P. J., Kawai, Y., Wagner, D. D., Ginsburg, D., Bonthron, D., Ohlsson-Wilhelm, B. M., Chavin, S. I., Abraham, G. N., Handin, R. I., Orkin, S. H., Montgomery, R. R., & Marder, V. J. (1986). Propolypeptide of von Willebrand factor circulates in blood and is identical to von Willebrand antigen II. Science, 232, 995-998. PubMed link

Antin, J. H., Ginsburg, D., Smith, B. R., Nathan, D. G., Orkin, S. H., & Rappeport, J. M. (1985). Bone marrow transplantation for paroxysmal nocturnal hemoglobinuria - Eradication of the PNH clone and documentation of complete lymphohematopoietic engraftment. Blood, 66, 1247-1250. PubMed link

Ginsburg, D., Antin, J. H., Smith, B. R., Orkin, S. H., & Rappeport, J. M. (1985). Origin of cell populations after bone marrow transplantation - Analysis using DNA sequence polymorphisms. Journal of Clinical Investigation, 75, 596-603. PubMed link

Ault, K. A., Antin, J. H., Ginsburg, D., Orkin, S. H., Rappeport, J. M., Keohan, M. L., Martin, P., & Smith, B. R. (1985). Phenotype of recovering lymphoid cell populations after marrow transplantation. Journal of Experimental Medicine, 161, 1483-1502. PubMed link

Collins, T., Ginsburg, D., Boss, J. M., Orkin, S. H., & Pober, J. S. (1985). Cultured human endothelial cells express platelet-derived growth factor B chain: cDNA cloning and structural analysis. Nature, 316, 748-750. PubMed link

Ginsburg, D., Handin, R. I., Bonthron, D. T., Donlon, T. A., Bruns, G. A. P., Latt, S. A., & Orkin, S. H. (1985). Human von Willebrand factor (VWF) - Isolation of complementary DNA (cDNA) clones and chromosomal localization. Science, 228, 1401-1406. PubMed link

Review Articles

Khoriaty R., Vasievich M.P., Ginsburg D. (2012). The COPII pathway and hematologic disease. Blood 120(1):31-38.  

Ginsburg D. (2011). Genetics and genomics to the clinic: A long road ahead. Cell 147(1):17-19.

Westrick R.J., Ginsburg D. (2009). Modifier genes for disorders of thrombosis and hemostasis. Journal of Thrombosis and Haemostasis 7(SUPPL. 1):132-135.

Levy, G. G., Motto, D. G., & Ginsburg, D. (2005). ADAMTS13 turns 3. Blood, 106, 11-17.

Zhang, B., & Ginsburg, D. (2004). Familial multiple coagulation factor deficiencies: New biologic insight from rare genetic bleeding disorders. Journal of Thrombosis and Haemostasis, 2, 1564-1572.

Mohlke, K. L., Nichols, W. C., & Ginsburg, D. (1999). The molecular basis of von Willebrand disease. International Journal of Clinical & Laboratory Research, 29, 1-7.

Mohlke, K. L., & Ginsburg, D. (1997). von Willebrand disease and quantitative variation in von Willebrand factor. Journal of Laboratory and Clinical Medicine, 130, 252-261.

Nichols, W. C., & Ginsburg, D. (1997). von Willebrand disease. Medicine, 76, 1-20.

Ginsburg, D., & Bowie, E. J. W. (1992). Molecular genetics of von Willebrand disease. Blood, 79, 2507-2519.

Editorial Material

Zhang, B., & Ginsburg, D. (2003). Getting secretory granules ready for prime time. Cell, 115, 372-373.

Ginsburg, D. (2002). The history and evolution of the ASCI: deja vu all over again. Journal of Clinical Investigation, 110, S1-S4.

Notes

Lawrence, D. A., Ginsburg, D., Day. D. E., Berkenpas, M. B., Verhamme, I. M., Kvassman, J. O., & Shore, J. D. (1995). Serpin-protease complexes are trapped as stable acyl-enzyme intermediates. Journal of Biological Chemistry, 270, 25309-25312.

Eitzman, D. T., Fay, W. P., Lawrence, D. A., Francis-Chmura, A. M., Shore, J. D., Olson, S. T., & Ginsburg, D. (1995). Peptide-mediated inactivation of recombinant and platelet plasminogen activator inhibitor-1 in vitro. Journal of Clinical Investigation, 95, 2416-2420.

Barrow, L. L., Simin, K., Mohlke, K., Nichols, W. C., Ginsburg, D., & Meisler, M. H. (1993). Conserved linkage of neurotrophin-3 and von Willebrand factor on mouse chromosome 6. Mammalian Genome, 4, 343-345.

Fay, W. P., Shapiro, A. D., Shih, J. L., Schleef, R. R., Ginsburg, D. (1992). Brief report - Complete deficiency of plasminogen activator inhibitor type-1 due to a frameshift mutation. New England Journal of Medicine, 327, 1729-1733.

Cacheris, P. M., Nichols, W. C., & Ginsburg, D. (1991). Molecular characterization of a unique von Willebrand disease variant - A novel mutation affecting von Willebrand factor factor VIII interaction. Journal of Biological Chemistry, 266, 13499-13502.

Gribbin, T., Chottiner, E., Ginsburg, D., & Mitchell, B. (1989). Identification of an APA-I polymorphism within the human adenosine deaminase (ADA) gene. Nucleic Acids Research, 17, 3626.

Roth, M. S., Collins, F. S., & Ginsburg, D. (1988). Sizing of the human T-cell receptor alpha-locus and detection of a large deletion in the Molt-4 cell line. Blood, 71, 1744-1747.

Konkle, B. A., Kim, S., Iannuzzi, M. C., Alani, R., Collins, F. S., & Ginsburg, D. (1987). Saci RFLP in the human von Willebrand factor gene. Nucleic Acids Research, 15, 6766.