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Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity a

dc.contributor.authorByers, Peter H.en_US
dc.contributor.authorBonadio, Jeffrey F.en_US
dc.contributor.authorCohn, Daniel H.en_US
dc.contributor.authorStarman, Barbra J.en_US
dc.contributor.authorWenstrup, Richard J.en_US
dc.contributor.authorWilling, Marcia C.en_US
dc.date.accessioned2010-06-01T20:34:38Z
dc.date.available2010-06-01T20:34:38Z
dc.date.issued1988-12en_US
dc.identifier.citationBYERS, PETER H.; BONADIO, JEFFREY F.; COHN, DANIEL H.; STARMAN, BARBRA J.; WENSTRUP, RICHARD J.; WILLING, MARCIA C. (1988). "Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity a ." Annals of the New York Academy of Sciences 543(1 Third International Conference on Osteogenesis Imperfecta ): 117-128. <http://hdl.handle.net/2027.42/73685>en_US
dc.identifier.issn0077-8923en_US
dc.identifier.issn1749-6632en_US
dc.identifier.urihttps://hdl.handle.net/2027.42/73685
dc.identifier.urihttp://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=3063158&dopt=citationen_US
dc.format.extent752077 bytes
dc.format.extent3109 bytes
dc.format.mimetypeapplication/pdf
dc.format.mimetypetext/plain
dc.publisherBlackwell Publishing Ltden_US
dc.rights1988 The New York Academy of Sciencesen_US
dc.titleOsteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity aen_US
dc.typeArticleen_US
dc.subject.hlbsecondlevelScience (General)en_US
dc.subject.hlbtoplevelScienceen_US
dc.description.peerreviewedPeer Revieweden_US
dc.contributor.affiliationumHoward Hughes Medical Institute and Department of Pathology, University of Michigan Ann Arbor, Michiganen_US
dc.contributor.affiliationotherDepartment of Pathology, University of Washington Seattle, Washington 98195en_US
dc.contributor.affiliationotherDepartment of Medicine, University of Washington Seattle, Washington 98195en_US
dc.contributor.affiliationotherCenter for Inherited Disease University of Washington Seattle, Washington 98195en_US
dc.contributor.affiliationotherDepartment of Pediatrics Duke University Durham, North Carolina 27710en_US
dc.identifier.pmid3063158en_US
dc.description.bitstreamurlhttp://deepblue.lib.umich.edu/bitstream/2027.42/73685/1/j.1749-6632.1988.tb55324.x.pdf
dc.identifier.doi10.1111/j.1749-6632.1988.tb55324.xen_US
dc.identifier.sourceAnnals of the New York Academy of Sciencesen_US
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dc.identifier.citedreferenceByers, P. H., P. Tsipouras, J. F. Bonadio, B. J. Starman & R. C. Schwartz. 1988. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen. Am. J. Hum. Genet. 42: 237 – 248.en_US
dc.identifier.citedreferenceSteinmann, B., V. H. Rao, A. Vogel, P. Bruckner, R. Gitzelmann & P. H. Byers. 1984. Cysteine in the triple-helical domain of one allelic product of the Α1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J. Biol. Chem. 259: 11129 – 11138.en_US
dc.identifier.citedreferenceCohn, D. H., P. H. Byers, B. Steinmann & R. E. Gelinas. 1986. Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro-Α1(I) collagen allele. Proc. Natl. Acad. Sci. USA 83: 6045 – 6047.en_US
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dc.identifier.citedreferenceVogel, B. E., R. R. Minor, M. Freund & D. J. Prockop. 1987. A point mutation in a type I procollagen gene converts glycine 748 of the Α1 chain to cysteine and destabilizes the triple helix in a lethal variant of osteogenesis imperfecta. J. Biol. Chem. 262: 14737 – 14744.en_US
dc.identifier.citedreferenceConstantinou, C. D., K. B. Nielsen & D. J. Prockop. 1988. The molecular defect in a lethal variant of osteogenesis imperfecta is a single base mutation that substitutes cysteine for glycine 904 of the Α1(I) chain of type I procollagen. Submitted.en_US
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dc.identifier.citedreferenceWilling, M. C., D. H. Cohn, B. J. Starman, K. A. Holbrook, C. R. Greenberg & P. H. Byers. 1988. Heterozygosity for a large deletion in the Α2(I) collagen gene (COL1A2) has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J. Biol. Chem. 263: 8398 – 8404.en_US
dc.identifier.citedreferenceCohn, D. H., R. J. Wenstrup, M. C. Willing, J. F. Bonadio & P. H. Byers. 1988. General strategies for isolating the genes encoding type I collagen and for characterizing mutations which produce osteogenesis imperfecta. Ann. N. Y. Acad. Sci. This volume.en_US
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dc.identifier.citedreferenceByers, P. H., B. J. Starman, D. H. Cohn & P. H. Byers. 1988. A novel mutation causes a perinatal lethal form of osteogenesis imperfecta: an insertion in one Α 1(I) collagen allele (COL1A1). J. Biol. Chem. 263: 7855 – 7861.en_US
dc.identifier.citedreferenceSillence, D. O., K. K. Barlow, A. P. Barber, J. G. Hall & D. L. Rimoin. Osteogenesis imperfecta type II. Delineation of the phenotype with reference to genetic heterogeneity. Am. J. Med. Genet. 17: 407 – 423.en_US
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dc.identifier.citedreferenceBarsh, G. S., K. E. David & P. H. Byers. 1982. Type I osteogenesis imperfecta: a nonfunctional allele for proΑ1(I) chains of type I procollagen. Proc. Natl. Acad. Sci. USA 79: 3838 – 3842.en_US
dc.identifier.citedreferenceWilling, M. C., D. H. Cohn & P. H. Byers, unpublished observations.en_US
dc.identifier.citedreferenceRowe, D. W., J. R. Shapiro, M. Poirier & S. Schlesinger. 1985. Diminished type I collagen synthesis and reduced alpha 1(I) collagen messenger RNA in cultured fibroblasts from patients with dominantly inherited (type I) osteogenesis imperfecta. J. Clin. Invest. 71: 689 – 697.en_US
dc.identifier.citedreferenceGenovese, C. & D. Rowe. 1987. Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta. Methods Enzymol. 145: 223 – 235.en_US
dc.identifier.citedreferencede Wet, W., M. Bernard, V. Benson-CHANDA, M. -L. Chu, L. Dickson, D. Weil & F. Ramirez. 1987. Organization of the human pro-Α2(I) collagen gene. J. Biol. Chem. 262: 16032 – 16036.en_US
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dc.identifier.citedreferenceWenstrup, R. J., A. G. W. Hunter & P. H. Byers. 1986. Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen. Hum. Genet. 74: 47 – 53.en_US
dc.identifier.citedreferenceTsipouras, P., J. C. Myers & F. Ramirez. 1983. Restriction fragment length polymorphism associated with the proΑ2(I) gene of human type I procollagen. J. Clin. Invest. 72: 1262 – 1267.en_US
dc.identifier.citedreferenceWenstrup, R. J., P. Tsipouras & P. H. Byers. 1986. Osteogenesis imperfecta type IV: biochemical confirmation of genetic linkage to the proΑ2(I) gene of type I collagen. J. Clin. Invest. 78: 1449 – 1455.en_US
dc.identifier.citedreferenceWenstrup, R. J., D. H. Cohn, T. Cohen & P. H. Byers. 1988. Arginine for glycine substitution in the triple helical domain of the products of one Α2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. J. Biol. Chem. 263: 7734 – 7740.en_US
dc.identifier.citedreferenceCohn, D. H. & P. H. Byers. In preparation.en_US
dc.identifier.citedreferenceWallis, G., P. Beighton, C. Boyd & C. Mathew. 1986. Mutations associated with the proΑ2(I) collagen gene are responsible for several cases of osteogenesis imperfecta. J. Med. Genet. 23: 411 – 416.en_US
dc.identifier.citedreferenceByers, P. H. & B. J. Starman. In preparation.en_US
dc.identifier.citedreferencede Vries, W. N. & W. J. De Wet. 1986. The molecular defect in an autosomal dominant form of osteogenesis imperfecta. Synthesis of type I procollagen containing cysteine in the triple-helical domain of pro-Α1(I) chains. J. Biol. Chem. 261: 9056 – 9064.en_US
dc.identifier.citedreferenceSillence, D. O., K. K. Barlow, W. G. Cole, S. Dietrich, A. P. Garber & D. L. Rimoin. 1986. Osteogenesis imperfecta type III: delineation of the phenotype with reference to genetic heterogeneity. Am. J. Med. Genet. 23: 821 – 832.en_US
dc.identifier.citedreferenceNicholls, A. C., F. M. Pope & H. Schloon. 1979. Biochemical heterogeneity of osteogenesis imperfecta: a new variant. Lancet 1: 1193.en_US
dc.identifier.citedreferenceDeak, S. B., A. Nicholls, F. M. Pope & D. J. Prockop. 1983. The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of proΑ2(I) chains which are not incorporated into trimers of type I procollagen. J. Biol. Chem. 258: 15192 – 15197.en_US
dc.identifier.citedreferenceDickson, L. A., T. Pihlajaniemi, S. Deak, F. M. Pope, A. Nicholls, D. J. Prockop & J. C. Myers. 1984. Nuclease S 1 mapping of a homozygous mutation in the carboxypropeptide coding region of the proΑ2(I) collagen gene in a patient with osteogenesis imperfecta. Proc. Natl. Acad. Sci. USA 81: 4524 – 4528.en_US
dc.identifier.citedreferenceStarman, B. J., D. H. Cohn, L. Weiss, S. Apone, D. Eyre & P. H. Byers. In preparation.en_US
dc.owningcollnameInterdisciplinary and Peer-Reviewed


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