Drug – bio-affecting and body treating compositions – Whole live micro-organism – cell – or virus containing – Genetically modified micro-organism – cell – or virus
Patent
1996-07-26
2000-01-04
Stanton, Brian R.
Drug, bio-affecting and body treating compositions
Whole live micro-organism, cell, or virus containing
Genetically modified micro-organism, cell, or virus
536 231, 536 235, 435366, A01N 6300, C07H 2104, C12N 500
Patent
active
060106948
ABSTRACT:
Human fibroblast cells that comprise a gene construct that comprises a duplication mutated fibrillin 1 gene operably linked to functional regulatory elements and compositions comprising such cells are disclosed. Methods of treating wounds and kits for practicing such methods are disclosed. Transgenic animals comprising a duplication mutated fibrillin 1 gene operably linked to a tissue specific and/or inducible promoter are disclosed. Methods of identifying individuals with a duplication mutated fibrillin 1 gene are disclosed. The methods comprises detecting a duplication of exons 17-40 of a fibrillin 1 gene or a gene product produced by expression of a duplication mutated fibrillin 1 gene. Methods of preventing expression of a duplication mutated fibrillin 1 gene are disclosed.
REFERENCES:
patent: 4645669 (1987-02-01), Reid
patent: 4703108 (1987-10-01), Silver et al.
patent: 4736866 (1988-04-01), Leder et al.
patent: 4873191 (1989-10-01), Wagner et al.
patent: 5334527 (1994-08-01), Brysk
patent: 5376118 (1994-12-01), Kaplan et al.
Aoyama, et al., "Quantitative Differences in Biosynthesis and Extracellular Deposition of Fibrillin in Cultured Fibroblasts Distinguish Five Groups of Marfan syndrome Patients and Suggest Distinct Pathogenetic Mechanisms", J. Clin. Invest., 1994, 94(1), 130-137.
Christiano, et al., "Molecular Pathology of the Elastic Fibers", J. Invest. Dermatol., 1994, 103(5), 53S-57S.
Francke, et al., "A Gly1127Ser Mutation in an EGF-like Dmain of the Fibrillin-1 Gene is a Risk Factor for Ascending Aortic Aneurysm and Dissection", Am. J. Hum. Genet., 1995, 56(6), 1287-1296.
Handford, et al., "The Calcium Binding Properties and Molecular Organization of Epidermal Growth Factor-like Domains in Human Fibrillin-1", J. Biol. Chem., 1995, 270(12), 6751-6756.
Rantamaki, et al., "Prenatal Diagnosis of Marfan Syndrome Identification of a Fibrillin-1 Mutation in Chorionic Villus Sample", Prenatal Diagnosis, 1995, 15(12), 1176-1181.
Aoyama, T., et al., "Missense mutations impair intracellular pocessing of fibrillin and microfibril assembly in Marfan syndrome", Human Molecular Genetics, 1993, 2, 2135-2140.
Cleary, E.G. and Gibson, M.A., "Elastin-Associated Microfibrils and Microfibrillar Proteins", Int. Rev. Connect. Tiss. Res., 1983, 10, 97-209.
Corson, G.M., et al., "Fibrillin Binds Calcium and Is Coded by cDNAs That Reveal a Multidomain Structure and Alternatively spliced Exons at the 5'End", Genomics, 1993, 17, 476-484.
Dietz, H., et al., "Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene", Nature, 1991, 352, 337-339.
Dietz, H., et al., "Marfan Phenotype Variability in a Family Segregating a Missense Mutation in the Epidermal Growth Factor-like Motif on the Fibrillin Gene", J. Clin. Invest., 1992, 89, 1674-1680.
Dietz, H., et al., "Clustering of Fibrillin (FBN1) Missense Mutations in Marfan Syndrome Patients at Cysteine Residues in EGF-Like Domains", Human Mut., 1992, 1, 366-374.
Goldstein, C., et al., "Of mice and Marfan: genetic linkage analyses of the fibrillin genes, Fbn1 and Fbn2, in the mouse genome", Mamm. Genome, 1994, 5, 696-700.
Jablonska, S., et al., "Conjenital fascial dystrophy: Stiff skin syndrome-a human counterpart of the tight-skin mouse", J. Am. Acad. Derm., 1989, 21, 943-950.
Jimenez S. and Christner, P., "Animal Models of Systemic Sclerosis", Clinics Derm., 1994, 12, 425-436.
Kainulainen, K., et al., "Two mutations in Marfan syndrome resulting in truncated fibrillin polypeptides", Proc. Natl. Acad. Sci. USA, 1992, 89, 5917-5921.
Lee, B., et al., "Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes", Nature, 1991, 352, 330-334.
Maslen, C.L., et al., "Partial sequence of a candidate gene for the Marfan syndrome", Nature, 1991, 352, 334-337.
Pereira, L., et al., "Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome", Hum. Mol. Genet., 1993, 2, 961-968.
Yin, W., et al., "Primary Structure and Developmental Expression of Fbn-1, the Mouse Fibrillin Gene", J. Biolog. Chem., 1995, 270, 1798-1806.
Sakai, L.Y., et al., "Fibrillin, A New 350-kD Glycoprotein, as a Component of Extracellular Microfibrils", J. Cell. Biol., 1986, 103, 2499-2509.
Gibson, M.A., et al., "The Protein Components of the 12-Nanometer Microfibrils of Elastic and Nonelastic Tissues", J. Biol. Chem., 1989, 264, 4590-4596.
Ramirez, F., et al., "The Fibrillin-Marfan Syndrome Connection", Bioessays, 1993, 15, 589-594.
Orkin et al. (NIH panel report) Report and recommendations of the panel to assess the NIH investment in research on gene therapy, Distributed by the National Institutes of Health, Bethesda, MD, Dec. 7, 1995.
Jimenez Sergio A.
Siracusa Linda D.
Clark Deborah J. R.
Stanton Brian R.
Thomas Jefferson University
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