Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.

American journal of human genetics ·Vol. 36 ·No. 3 ·1984-05-00 ·Pages 499-505

Prockop DJ

Abstract

暂无摘要

MeSH Terms

Amino Acid Sequence Base Composition Bone and Bones/metabolism Collagen/genetics,metabolism Ehlers-Danlos Syndrome/genetics,metabolism Fibroblasts/metabolism Humans Mutation Osteogenesis Imperfecta/genetics,metabolism Phenotype Procollagen/genetics,metabolism

Chemicals

Procollagen Collagen

Authors & Affiliations

1 authors, click to expand affiliations / ORCID

Prockop D J

References (19)

19 references, click to expand

Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.
Science. 1973 Oct 19;182(4109):298-300 PMID: 4742738
Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.
Proc Natl Acad Sci U S A. 1975 Feb;72(2):586-9 PMID: 1054840
Biochemical heterogeneity of osteogenesis imperfecta: New variant.
Lancet. 1979 Jun 2;1(8127):1193 PMID: 86915
Genetic heterogeneity in osteogenesis imperfecta.
J Med Genet. 1979 Apr;16(2):101-16 PMID: 458828
Isolation and characterization of a 15-kilobase genomic sequence coding for part of the Pro alpha 2 chain of sheep type I collagen.
J Biol Chem. 1980 Apr 10;255(7):3212-20 PMID: 6244313
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
Isolation and characterization of genomic DNA coding for alpha 2 type I collagen.
Nucleic Acids Res. 1980 Apr 25;8(8):1823-37 PMID: 7433131
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
Structure of the pro alpha 2 (I) collagen gene.
Nature. 1981 Nov 12;294(5837):129-35 PMID: 6272119
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
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
Osteogenesis imperfecta: promising beginnings and continuing challenges.
Coll Relat Res. 1981 Feb;1(2):227-34 PMID: 7049549
Copy number of a human type I alpha 2 collagen gene.
J Biol Chem. 1982 Nov 25;257(22):13816-22 PMID: 6292209
Human type I procollagen genes are located on different chromosomes.
Proc Natl Acad Sci U S A. 1982 Nov;79(21):6627-30 PMID: 6292910
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
Specific transcription and RNA splicing defects in five cloned beta-thalassaemia genes.
Nature. 1983 Apr 14;302(5909):591-6 PMID: 6188062
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
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
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

Article Info

Journal

American journal of human genetics

Abbr.

Am J Hum Genet

ISSN

0002-9297

Published

1984-05-00

Pages

499-505

Language

English

Region

United States

NLM ID

0370475

PMCID

PMC1684455

Subset

External Links

PubMed source PMC Full Text View journal details

Analysis Services

Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.

Contact

WeChat Official Account