Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity a
dc.contributor.author | Byers, Peter H. | en_US |
dc.contributor.author | Bonadio, Jeffrey F. | en_US |
dc.contributor.author | Cohn, Daniel H. | en_US |
dc.contributor.author | Starman, Barbra J. | en_US |
dc.contributor.author | Wenstrup, Richard J. | en_US |
dc.contributor.author | Willing, Marcia C. | en_US |
dc.date.accessioned | 2010-06-01T20:34:38Z | |
dc.date.available | 2010-06-01T20:34:38Z | |
dc.date.issued | 1988-12 | en_US |
dc.identifier.citation | BYERS, 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.issn | 0077-8923 | en_US |
dc.identifier.issn | 1749-6632 | en_US |
dc.identifier.uri | https://hdl.handle.net/2027.42/73685 | |
dc.identifier.uri | http://www.ncbi.nlm.nih.gov/sites/entrez?cmd=retrieve&db=pubmed&list_uids=3063158&dopt=citation | en_US |
dc.format.extent | 752077 bytes | |
dc.format.extent | 3109 bytes | |
dc.format.mimetype | application/pdf | |
dc.format.mimetype | text/plain | |
dc.publisher | Blackwell Publishing Ltd | en_US |
dc.rights | 1988 The New York Academy of Sciences | en_US |
dc.title | Osteogenesis Imperfecta: The Molecular Basis of Clinical Heterogeneity a | en_US |
dc.type | Article | en_US |
dc.subject.hlbsecondlevel | Science (General) | en_US |
dc.subject.hlbtoplevel | Science | en_US |
dc.description.peerreviewed | Peer Reviewed | en_US |
dc.contributor.affiliationum | Howard Hughes Medical Institute and Department of Pathology, University of Michigan Ann Arbor, Michigan | en_US |
dc.contributor.affiliationother | Department of Pathology, University of Washington Seattle, Washington 98195 | en_US |
dc.contributor.affiliationother | Department of Medicine, University of Washington Seattle, Washington 98195 | en_US |
dc.contributor.affiliationother | Center for Inherited Disease University of Washington Seattle, Washington 98195 | en_US |
dc.contributor.affiliationother | Department of Pediatrics Duke University Durham, North Carolina 27710 | en_US |
dc.identifier.pmid | 3063158 | en_US |
dc.description.bitstreamurl | http://deepblue.lib.umich.edu/bitstream/2027.42/73685/1/j.1749-6632.1988.tb55324.x.pdf | |
dc.identifier.doi | 10.1111/j.1749-6632.1988.tb55324.x | en_US |
dc.identifier.source | Annals of the New York Academy of Sciences | en_US |
dc.identifier.citedreference | Byers, P. H. & J. F. Bonadio. 1985. The molecular basis of clinical heterogeneity in osteogenesis imperfecta: mutations in type I collagen genes have different effects on collagen processing. In Genetic and Metabolic Disease in Pediatrics. J. K. Lloyd & C. R. Scriver, Eds. 56 – 90. Butterworth. London. | en_US |
dc.identifier.citedreference | Prockop, D. J. & K. I. Kivirikko. 1984. Heritable diseases of collagen. N. Engl. J. Med. 311: 376 – 386. | en_US |
dc.identifier.citedreference | Sillence, D. O., A. S. Senn & D. M. Danks. 1979. Genetic heterogeneity in osteogenesis imperfecta. J. Med. Genet. 16: 101 – 106. | en_US |
dc.identifier.citedreference | Pentinnen, R. P., J. R. Lichtenstein, G. R. Martin & V. A. Mckusick. 1975. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc. Natl. Acad. Sci. USA 72: 586 – 589. | en_US |
dc.identifier.citedreference | Barsh, G. S. & P. H. Byers. 1981. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta. Proc. Natl. Acad. Sci. USA 78: 5142 – 5146. | en_US |
dc.identifier.citedreference | Williams, C. J. & D. J. Prockop. 1983. Synthesis and processing of a type I procollagen containing shortened proal(I) chains by fibroblasts from a patient with osteogenesis imperfecta. J. Biol. Chem. 258: 5915 – 5921. | en_US |
dc.identifier.citedreference | Chu, M. -L., C. J. Williams, G. Pepe, J. L. Hirsch, D. J. Prockop & F. Ramirez. 1984. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature 304: 78 – 80. | en_US |
dc.identifier.citedreference | Chu, M. -L., V. Gargiulo, C. Williams & F. Ramirez. 1985. Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. J. Biol. Chem. 260: 691 – 694. | en_US |
dc.identifier.citedreference | Barsh, G. S., C. L. Roush, J. Bonadio, P. H. Byers & R. E. Gelinas. 1985. Intronmediated recombination may cause a deletion in an Α I type I collagen chain in a lethal form of osteogenesis imperfecta. Proc. Natl. Acad. Sci. USA 82: 2870 – 2874. | en_US |
dc.identifier.citedreference | Bonadio, J. F. & P. H. Byers. 1985. Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II. Nature 316: 363 – 366. | en_US |
dc.identifier.citedreference | Bateman, J. F., T. Mascara, D. Chan & W. G. Cole. 1984. Abnormal type I collagen metabolism by cultured fibroblasts in lethal perinatal osteogenesis imperfecta. Biochem. J. 217: 103 – 115. | en_US |
dc.identifier.citedreference | Byers, 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.citedreference | Steinmann, 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.citedreference | Cohn, 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 |
dc.identifier.citedreference | Bateman, J. F., D. Chan, I. D. Walker, J. G. Rogers & W. G. Cole. 1987. Lethal perinatal osteogenesis imperfecta due to substitution of arginine for glycine at residue 391 of the Α1(I) chain of type I collagen. J. Biol. Chem. 262: 7021 – 7027. | en_US |
dc.identifier.citedreference | Vogel, 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.citedreference | Constantinou, 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 |
dc.identifier.citedreference | Bachinger, H. P., P. Bruckner, R. Timpl, D. J. Prockop & J. Engel. 1980. Folding mechanism of the triple helix in type-III collagen and type-III pN-collagen. Eur. J. Biochem. 106: 619 – 632. | en_US |
dc.identifier.citedreference | Willing, 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.citedreference | Cohn, 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 |
dc.identifier.citedreference | Rauterberg, J. & K. Kuhn. 1968. The renaturation behaviour of modified collagen molecules. Hoppe-Seyler's Z. Physiol. Chem. 349: 611 – 622. | en_US |
dc.identifier.citedreference | Salem, G. & W. Traub. 1975. Conformational implications of amino acid sequence regularities in collagen. FEBS Lett. 51: 94 – 99. | en_US |
dc.identifier.citedreference | Byers, 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.citedreference | Sillence, 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 |
dc.identifier.citedreference | Thompson, E. M., I. D. Young, C. M. Hall & M. E. Pembery. 1987. Osteogenesis imperfecta type IIA: evidence for dominant inheritance. J. Med. Genet. 24: 386 – 389. | en_US |
dc.identifier.citedreference | Barsh, 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.citedreference | Willing, M. C., D. H. Cohn & P. H. Byers, unpublished observations. | en_US |
dc.identifier.citedreference | Rowe, 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.citedreference | Genovese, 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.citedreference | de 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 |
dc.identifier.citedreference | Sykes, B., D. Ogilvie, P. Wordsworth, J. Anderson & N. Jones. 1986. Osteogenesis imperfecta is linked to both type I collagen structural genes. Lancet 1: 69 – 72. | en_US |
dc.identifier.citedreference | Wenstrup, 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.citedreference | Tsipouras, 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.citedreference | Wenstrup, 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.citedreference | Wenstrup, 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.citedreference | Cohn, D. H. & P. H. Byers. In preparation. | en_US |
dc.identifier.citedreference | Wallis, 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.citedreference | Byers, P. H. & B. J. Starman. In preparation. | en_US |
dc.identifier.citedreference | de 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.citedreference | Sillence, 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.citedreference | Nicholls, A. C., F. M. Pope & H. Schloon. 1979. Biochemical heterogeneity of osteogenesis imperfecta: a new variant. Lancet 1: 1193. | en_US |
dc.identifier.citedreference | Deak, 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.citedreference | Dickson, 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.citedreference | Starman, B. J., D. H. Cohn, L. Weiss, S. Apone, D. Eyre & P. H. Byers. In preparation. | en_US |
dc.owningcollname | Interdisciplinary and Peer-Reviewed |
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