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. 1985 Mar;75(3):783–787. doi: 10.1172/JCI111773

Mutations in collagen genes. Consequences for rare and common diseases.

D J Prockop
PMCID: PMC423605  PMID: 3884665

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

  1. Barsh G. S., Byers P. H. Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1981 Aug;78(8):5142–5146. doi: 10.1073/pnas.78.8.5142. [DOI] [PMC free article] [PubMed] [Google Scholar]
  2. Byers P. H., Shapiro J. R., Rowe D. W., David K. E., Holbrook K. A. Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta. J Clin Invest. 1983 Mar;71(3):689–697. doi: 10.1172/JCI110815. [DOI] [PMC free article] [PubMed] [Google Scholar]
  3. Byers P. H., Siegel R. C., Peterson K. E., Rowe D. W., Holbrook K. A., Smith L. T., Chang Y. H., Fu J. C. Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745–7749. doi: 10.1073/pnas.78.12.7745. [DOI] [PMC free article] [PubMed] [Google Scholar]
  4. Chu M. L., Williams C. J., Pepe G., Hirsch J. L., Prockop D. J., Ramirez F. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature. 1983 Jul 7;304(5921):78–80. doi: 10.1038/304078a0. [DOI] [PubMed] [Google Scholar]
  5. Deak S. B., Nicholls A., Pope F. M., Prockop D. J. The molecular defect in a nonlethal variant of osteogenesis imperfecta. Synthesis of pro-alpha 2(I) chains which are not incorporated into trimers of type I procollagen. J Biol Chem. 1983 Dec 25;258(24):15192–15197. [PubMed] [Google Scholar]
  6. Dickson L. A., Pihlajaniemi T., Deak S., Pope F. M., Nicholls A., Prockop D. J., Myers J. C. Nuclease S1 mapping of a homozygous mutation in the carboxyl-propeptide-coding region of the pro alpha 2(I) collagen gene in a patient with osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1984 Jul;81(14):4524–4528. doi: 10.1073/pnas.81.14.4524. [DOI] [PMC free article] [PubMed] [Google Scholar]
  7. Hollister D. W., Byers P. H., Holbrook K. A. Genetic disorders of collagen metabolism. Adv Hum Genet. 1982;12:1–87. doi: 10.1007/978-1-4615-8315-8_1. [DOI] [PubMed] [Google Scholar]
  8. Lichtenstein J. R., Martin G. R., Kohn L. D., Byers P. H., McKusick V. A. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science. 1973 Oct 19;182(4109):298–300. doi: 10.1126/science.182.4109.298. [DOI] [PubMed] [Google Scholar]
  9. Myers J. C., Dickson L. A., de Wet W. J., Bernard M. P., Chu M. L., Di Liberto M., Pepe G., Sangiorgi F. O., Ramirez F. Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts. J Biol Chem. 1983 Aug 25;258(16):10128–10135. [PubMed] [Google Scholar]
  10. Nicholls A. C., Pope F. M., Craig D. An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta. Br Med J (Clin Res Ed) 1984 Jan 14;288(6411):112–113. doi: 10.1136/bmj.288.6411.112. [DOI] [PMC free article] [PubMed] [Google Scholar]
  11. Peltonen L., Palotie A., Prockop D. J. A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide. Proc Natl Acad Sci U S A. 1980 Oct;77(10):6179–6183. doi: 10.1073/pnas.77.10.6179. [DOI] [PMC free article] [PubMed] [Google Scholar]
  12. Penttinen R. P., Lichtenstein J. R., Martin G. R., McKusick V. A. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1975 Feb;72(2):586–589. doi: 10.1073/pnas.72.2.586. [DOI] [PMC free article] [PubMed] [Google Scholar]
  13. Pihlajaniemi T., Dickson L. A., Pope F. M., Korhonen V. R., Nicholls A., Prockop D. J., Myers J. C. Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation. J Biol Chem. 1984 Nov 10;259(21):12941–12944. [PubMed] [Google Scholar]
  14. Prockop D. J., Kivirikko K. I. Heritable diseases of collagen. N Engl J Med. 1984 Aug 9;311(6):376–386. doi: 10.1056/NEJM198408093110606. [DOI] [PubMed] [Google Scholar]
  15. Sillence D. Osteogenesis imperfecta: an expanding panorama of variants. Clin Orthop Relat Res. 1981 Sep;(159):11–25. [PubMed] [Google Scholar]
  16. Sippola M., Kaffe S., Prockop D. J. A heterozygous defect for structurally altered pro-alpha 2 chain of type I procollagen in a mild variant of osteogenesis imperfecta. The altered structure decreases the thermal stability of procollagen and makes it resistant to procollagen N-proteinase. J Biol Chem. 1984 Nov 25;259(22):14094–14100. [PubMed] [Google Scholar]
  17. Steinmann B., Tuderman L., Peltonen L., Martin G. R., McKusick V. A., Prockop D. J. Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem. 1980 Sep 25;255(18):8887–8893. [PubMed] [Google Scholar]
  18. Tate V., Finer M., Boedtker H., Doty P. Procollagen genes: further sequence studies and interspecies comparisons. Cold Spring Harb Symp Quant Biol. 1983;47(Pt 2):1039–1049. doi: 10.1101/sqb.1983.047.01.117. [DOI] [PubMed] [Google Scholar]
  19. Tolstoshev P., Crystal R. G. The collagen alpha-2 chain gene. J Invest Dermatol. 1982 Jul;79 (Suppl 1):60s–64s. doi: 10.1111/1523-1747.ep12545778. [DOI] [PubMed] [Google Scholar]
  20. Tsipouras P., Myers J. C., Ramirez F., Prockop D. J. Restriction fragment length polymorphism associated with the pro alpha 2(I) gene of human type I procollagen. Application to a family with an autosomal dominant form of osteogenesis imperfecta. J Clin Invest. 1983 Oct;72(4):1262–1267. doi: 10.1172/JCI111082. [DOI] [PMC free article] [PubMed] [Google Scholar]
  21. Williams C. J., Prockop D. J. Synthesis and processing of a type I procollagen containing shortened pro-alpha 1(I) chains by fibroblasts from a patient with osteogenesis imperfecta. J Biol Chem. 1983 May 10;258(9):5915–5921. [PubMed] [Google Scholar]
  22. Yamada Y., Avvedimento V. E., Mudryj M., Ohkubo H., Vogeli G., Irani M., Pastan I., de Crombrugghe B. The collagen gene: evidence for its evolutinary assembly by amplification of a DNA segment containing an exon of 54 bp. Cell. 1980 Dec;22(3):887–892. doi: 10.1016/0092-8674(80)90565-6. [DOI] [PubMed] [Google Scholar]
  23. de Wet W. J., Pihlajaniemi T., Myers J., Kelly T. E., Prockop D. J. Synthesis of a shortened pro-alpha 2(I) chain and decreased synthesis of pro-alpha 2(I) chains in a proband with osteogenesis imperfecta. J Biol Chem. 1983 Jun 25;258(12):7721–7728. [PubMed] [Google Scholar]

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