Search tips
Search criteria 


Logo of jrsocmedLink to Publisher's site
J R Soc Med. 1983 December; 76(12): 1050–1062.
PMCID: PMC1439523

Molecular abnormalities of collagen: a review.

Full text

Full text is available as a scanned copy of the original print version. Get a printable copy (PDF file) of the complete article (3.2M), or click on a page image below to browse page by page. Links to PubMed are also available for Selected References.

Selected References

These references are in PubMed. This may not be the complete list of references from this article.
  • Barsh GS, Byers PH. 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. [PubMed]
  • Barsh GS, David KE, Byers PH. Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen. Proc Natl Acad Sci U S A. 1982 Jun;79(12):3838–3842. [PubMed]
  • Bornstein P, Sage H. Structurally distinct collagen types. Annu Rev Biochem. 1980;49:957–1003. [PubMed]
  • Byers PH, Holbrook KA, McGillivray B, MacLeod PM, Lowry RB. Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet. 1979 Mar 12;47(2):141–150. [PubMed]
  • Byers PH, Siegel RC, Peterson KE, Rowe DW, Holbrook KA, Smith LT, Chang YH, Fu JC. Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745–7749. [PubMed]
  • Di Ferrante N, Leachman RD, Angelini P, Donnelly PV, Francis G, Almazan A. Lysyl oxidase deficiency in Ehlers-Danlos syndrome type V. Connect Tissue Res. 1975;3(1):49–53. [PubMed]
  • Emery AE. Recombinant DNA technology. Lancet. 1981 Dec 19;2(8260-61):1406–1409. [PubMed]
  • Fjolstad M, Helle O. A hereditary dysplasia of collagen tissues in sheep. J Pathol. 1974 Mar;112(3):183–188. [PubMed]
  • Gay S, Martin GR, Muller PK, Timpl R, Kuhn K. Simultaneous synthesis of types I and III collagen by fibroblasts in culture. Proc Natl Acad Sci U S A. 1976 Nov;73(11):4037–4040. [PubMed]
  • Jones DB. Aetiology of cerebral aneurysms. Lancet. 1981 Jun 6;1(8232):1265–1265. [PubMed]
  • Kan YW, Dozy AM. Antenatal diagnosis of sickle-cell anaemia by D.N.A. analysis of amniotic-fluid cells. Lancet. 1978 Oct 28;2(8096):910–912. [PubMed]
  • Lichtenstein JR, Martin GR, Kohn LD, Byers PH, McKusick VA. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science. 1973 Oct 19;182(4109):298–300. [PubMed]
  • Maniatis T, Jeffrey A, Kleid DG. Nucleotide sequence of the rightward operator of phage lambda. Proc Natl Acad Sci U S A. 1975 Mar;72(3):1184–1188. [PubMed]
  • Nicholls AC, Pope FM, Schloon H. Biochemical heterogeneity of osteogenesis imperfecta: New variant. Lancet. 1979 Jun 2;1(8127):1193–1193. [PubMed]
  • Orkin SH, Old JM, Weatherall DJ, Nathan DG. Partial deletion of beta-globin gene DNA in certain patients with beta 0-thalassemia. Proc Natl Acad Sci U S A. 1979 May;76(5):2400–2404. [PubMed]
  • Patterson DF, Minor RR. Hereditary fragility and hyperextensibility of the skin of cats. A defect in collagen fibrillogenesis. Lab Invest. 1977 Aug;37(2):170–179. [PubMed]
  • Peltonen L, Palotie A, Prockop DJ. 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. [PubMed]
  • Penttinen RP, Lichtenstein JR, Martin GR, McKusick VA. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta. Proc Natl Acad Sci U S A. 1975 Feb;72(2):586–589. [PubMed]
  • Pinnell SR, Krane SM, Kenzora JE, Glimcher MJ. A heritable disorder of connective tissue. Hydroxylysine-deficient collagen disease. N Engl J Med. 1972 May 11;286(19):1013–1020. [PubMed]
  • Pope FM, Martin GR, Lichtenstein JR, Penttinen R, Gerson B, Rowe DW, McKusick VA. Patients with Ehlers-Danlos syndrome type IV lack type III collagen. Proc Natl Acad Sci U S A. 1975 Apr;72(4):1314–1316. [PubMed]
  • Pope FM, Martin GR, McKusick VA. Inheritance of Ehlers-Danlos type IV syndrome. J Med Genet. 1977 Jun;14(3):200–204. [PMC free article] [PubMed]
  • Pope FM, Nicholls AC, Jones PM, Wells RS, Lawrence D. EDS IV (acrogeria): new autosomal dominant and recessive types. J R Soc Med. 1980 Mar;73(3):180–186. [PMC free article] [PubMed]
  • Pope FM, Nicholls AC, Narcisi P, Bartlett J, Neil-Dwyer G, Doshi B. Some patients with cerebral aneurysms are deficient in type III collagen. Lancet. 1981 May 2;1(8227):973–975. [PubMed]
  • Prockop DJ, Kivirikko KI, Tuderman L, Guzman NA. The biosynthesis of collagen and its disorders (second of two parts). N Engl J Med. 1979 Jul 12;301(2):77–85. [PubMed]
  • Siegel RC, Black CM, Bailey AJ. Cross-linking of collagen in the X-linked Ehlers-Danlos Type V. Biochem Biophys Res Commun. 1979 May 14;88(1):281–287. [PubMed]
  • Sillence DO, Senn A, Danks DM. Genetic heterogeneity in osteogenesis imperfecta. J Med Genet. 1979 Apr;16(2):101–116. [PMC free article] [PubMed]
  • Steinmann B, Tuderman L, Peltonen L, Martin GR, McKusick VA, Prockop DJ. 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]
  • Turakainen H, Larjava H, Saarni H, Penttinen R. Synthesis of hyaluronic acid and collagen in skin fibroblasts cultured from patients with osteogenesis imperfecta. Biochim Biophys Acta. 1980 Apr 3;628(4):388–397. [PubMed]
  • Vogel A, Holbrook KA, Steinmann B, Gitzelmann R, Byers PH. Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab Invest. 1979 Feb;40(2):201–206. [PubMed]
  • Weatherall DJ. Mapping haemoglobin genes. Br Med J. 1979 Aug 11;2(6186):352–354. [PMC free article] [PubMed]
  • Weiss EH, Cheah KS, Grosveld FG, Dahl HH, Solomon E, Flavell RA. Isolation and characterization of a human collagen alpha 1(I)-like gene from a cosmid library. Nucleic Acids Res. 1982 Mar 25;10(6):1981–1994. [PMC free article] [PubMed]

Articles from Journal of the Royal Society of Medicine are provided here courtesy of Royal Society of Medicine Press