The DOI matches its Crossref record; 27 of the 27 references it cites were found in a registry or an index.
Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A
Open accessAbstract
Haemophilia A is a classic X-linked disease which affects 1 in 5–10,000 males in all populations1 and is caused by defects in coagulation factor VIII2,3. Roughly 60% of patients have severe disease with factor VIII activity <1% of normal; they have frequent spontaneous bleeding into joints, soft tissues, muscles and internal organs. These patients usually require regular injections of plasma-derived or recombinant human factor VIII. Because this is expensive and can potentially lead to life-threatening complications, other forms of therapy, includinggene therapy, have been proposed2. Natural canine models of factor VIII and factor IX deficiency have been available for many years4–5, and gene therapy attempts on these dogs have met with partial success6–8. However, a small animal model of the disease is desirable for studies of factor VIII function and gene therapy. Using gene targeting, we have made a mouse with severe factorVIII deficiency.
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Cites
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Targeted disruption of the c-src proto-oncogene leads to osteopetrosis in mice
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Characterization of the human factor VIII gene
Gitschier, J., Wood, W. I., Goralka, T. M., Wion, K. L., Chen, E. Y., Eaton, D. H., Vehar, G. A., Capon, D. J., & Lawn, R. M. (1984) · Nature · doi:10.1038/312326a0 · Cited by 988
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Molecular cloning of a cDNA encoding human antihaemophilic factor
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Structure of human factor VIII
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Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A
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Mingozzi, F., & High, K. A. (2011) · Nature Reviews Genetics · doi:10.1038/nrg2988 · Cited by 893
Self-citationAAV-mediated factor IX gene transfer to skeletal muscle in patients with severe hemophilia B
Manno, C. S., Chew, A. J., Hutchison, S., Larson, P. J., Herzog, R. W., Arruda, V. R., Tai, S. J., Ragni, M. V., Thompson, A., Ozelo, M., et al. (2003) · Blood · doi:10.1182/blood-2002-10-3296 · Cited by 749
Self-citationPlatelets in inflammation and thrombosis
Wagner, D. D., & Burger, P. C. (2003) · Arteriosclerosis Thrombosis and Vascular Biology · doi:10.1161/01.atv.0000095974.95122.ec · Cited by 570
Polymeric synthetic nanoparticles for the induction of antigen-specific immunological tolerance
Maldonado, R. A., LaMothe, R. A., Ferrari, J. D., Zhang, A.-H., Rossi, R. J., Kolte, P. N., Griset, A. P., O’Neil, C., Altreuter, D. H., Browning, E., et al. (2015) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1408686111 · Cited by 441
Snyder, R. O., Miao, C., Meuse, L., Tubb, J., Donahue, B. A., Lin, H.-F., Stafford, D. W., Patel, S., Thompson, A. R., Nichols, T., et al. (1999) · Nature Medicine · doi:10.1038/4751 · Cited by 409
Metadata
- Authors
- Bi, L., Lawler, A. M., Antonarakis, S. E., High, K. A., Gearhart, J. D., & Kazazian, H. H.
- Venue
- Nature Genetics
- Published
- 1995-05
- Volume
- 10
- Issue
- 1
- Pages
- 119-121
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1964975805
- Cited by
- 593
- References
- 27
- FWCI
- 8.84
- Type
- journal article
- Language
- en
- Open access
- green
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- Bi, L., Lawler, A. M., Antonarakis, S. E., High, K. A., Gearhart, J. D., & Kazazian, H. H. (1995). Targeted disruption of the mouse factor VIII gene produces a model of haemophilia A. Nature Genetics. https://doi.org/10.1038/ng0595-119
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