Home LiteratureArticle Details
PMID: 3884665 Published · ppublish English Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. Review

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

The Journal of clinical investigation ·Vol. 75 ·No. 3 ·1985-03-00 ·Pages 783-7

Prockop DJ

Abstract

暂无摘要

MeSH Terms
Amino Acid Sequence Cloning, Molecular Collagen/biosynthesis,genetics,physiology Ehlers-Danlos Syndrome/genetics Humans Marfan Syndrome/genetics Mutation Osteogenesis Imperfecta/genetics Procollagen/genetics
Chemicals
Procollagen Collagen
Authors & Affiliations
1 authors, click to expand affiliations / ORCID
Prockop D J
References (23)
23 references, click to expand
  1. Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
    Science. 1973 Oct 19;182(4109):298-300 PMID: 4742738
  2. The collagen alpha-2 chain gene.
    J Invest Dermatol. 1982 Jul;79 Suppl 1:60s-64s PMID: 7086191
  3. 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):8887-93 PMID: 6773953
  4. 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):6179-83 PMID: 6934545
  5. 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):887-92 PMID: 7460017
  6. Osteogenesis imperfecta: an expanding panorama of variants.
    Clin Orthop Relat Res. 1981 Sep;(159):11-25 PMID: 7285446
  7. 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):5142-6 PMID: 6946461
  8. Genetic disorders of collagen metabolism.
    Adv Hum Genet. 1982;12:1-87 PMID: 6812396
  9. Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta.
    J Clin Invest. 1983 Mar;71(3):689-97 PMID: 6826730
  10. 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):5915-21 PMID: 6304100
  11. Procollagen genes: further sequence studies and interspecies comparisons.
    Cold Spring Harb Symp Quant Biol. 1983;47 Pt 2:1039-49 PMID: 6305571
  12. 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):7721-8 PMID: 6863261
  13. Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta.
    Nature. 1983 Jul 7-13;304(5921):78-80 PMID: 6191221
  14. 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):10128-35 PMID: 6309769
  15. 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):1262-7 PMID: 6313757
  16. 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):15192-7 PMID: 6418743
  17. An abnormal collagen alpha chain containing cysteine in autosomal dominant osteogenesis imperfecta.
    Br Med J (Clin Res Ed). 1984 Jan 14;288(6411):112-3 PMID: 6419811
  18. Heritable diseases of collagen.
    N Engl J Med. 1984 Aug 9;311(6):376-86 PMID: 6146097
  19. 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):4524-8 PMID: 6087329
  20. Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.
    J Biol Chem. 1984 Nov 10;259(21):12941-4 PMID: 6092353
  21. 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):14094-100 PMID: 6438090
  22. Marfan syndrome: abnormal alpha 2 chain in type I collagen.
    Proc Natl Acad Sci U S A. 1981 Dec;78(12):7745-9 PMID: 6950413
  23. Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.
    Proc Natl Acad Sci U S A. 1975 Feb;72(2):586-9 PMID: 1054840
Article Info
Journal
The Journal of clinical investigation
Abbr.
J Clin Invest
ISSN
0021-9738
Published
1985-03-00
Pages
783-7
Language
English
Region
United States
NLM ID
7802877
PMCID
PMC423605
Subset
IM
Grants
NIADDK NIH HHS · AM-16516 · United States
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com