Detection of type III collagen in skin fibroblasts from patients with Ehlers-Danlos syndrome type IV by immunofluorescence
- 1 January 1988
- journal article
- research article
- Published by Oxford University Press (OUP) in British Journal of Dermatology
- Vol. 118 (1) , 17-26
- https://doi.org/10.1111/j.1365-2133.1988.tb01745.x
Abstract
Immunofluorescence showed that cultured skin fibroblasts from 15 out of 17 patients with Ehlers-Danlos syndrome type IV retained abnormal amounts of type III collagen within the cytoplasm. This was not shown by fibroblasts from normal subjects or from patients with other inherited connective tissue diseases. The diagnosis of Ehlers-Danlos syndrome type IV may be facilitated by this findings.This publication has 14 references indexed in Scilit:
- Synthesis of an altered type III procollagen in a patient with type IV Ehlers-Danlos syndrome. A structural change in the alpha 1(III) chain which makes the protein more susceptible to proteinases.Journal of Biological Chemistry, 1985
- Ehlers‐Danlos syndrome type IV D: an autosomal recessive disorderClinical Genetics, 1984
- Monovalent ionophores inhibit secretion of procollagen and fibronectin from cultured human fibroblastsProceedings of the National Academy of Sciences, 1979
- Biochemistry of the Elastic Fibers in Normal Connective Tissues and its Alterations in DiseasesJournal of Investigative Dermatology, 1979
- Physicochemical characterization and molecular organization of the collagen A and B chainsBiochemistry, 1978
- Inheritance of Ehlers-Danlos type IV syndrome.Journal of Medical Genetics, 1977
- Simultaneous synthesis of types I and III collagen by fibroblasts in culture.Proceedings of the National Academy of Sciences, 1976
- Patients with Ehlers-Danlos syndrome type IV lack type III collagen.Proceedings of the National Academy of Sciences, 1975
- Defect in Conversion of Procollagen to Collagen in a Form of Ehlers-Danlos SyndromeScience, 1973
- A Heritable Disorder of Connective TissueNew England Journal of Medicine, 1972