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Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression
- Source :
- Clinical Genetics. 44:287-291
- Publication Year :
- 2008
- Publisher :
- Wiley, 2008.
-
Abstract
- Dean JCS, Gray ES, Stewart KN, Brown T, Lloyd DJ, Smith NC, Pope FM. Restrictive dermopathy: a disorder of skin differentiation with abnormal integrin expression. Clin Genet 1993: 44: 287–291. © Munksgaard, 1993 Clinical features and histological findings in two sibs who died from restrictive dermopathy in the neonatal period are described. Fibroblasts cultured from a skin biopsy from the second sib and fibroblasts from normal neonatal skin were studied using monoclonal antibodies to visualise integrin subunits by immunocytochemistry. Restrictive dermopathy fibroblasts displayed increased expression of the alpha-1 and alpha-2 subunits of integrin, those responsible for collagen binding. The increase was not matrix dependent. Integrins may play an important role in tissue differentiation, and our findings support the hypothesis that restrictive dermopathy is a disorder of skin differentiation.
- Subjects :
- Male
Integrins
medicine.medical_specialty
Pathology
Immunocytochemistry
Integrin
Skin Diseases
Pathogenesis
Internal medicine
Gene expression
Cell Adhesion
Genetics
Humans
Medicine
Abnormalities, Multiple
Fibroblast
Cells, Cultured
Genetics (clinical)
Skin
medicine.diagnostic_test
biology
business.industry
Infant, Newborn
Antibodies, Monoclonal
Cell Differentiation
Fibroblasts
medicine.disease
Fetal Diseases
Endocrinology
medicine.anatomical_structure
Skin biopsy
Skin Abnormalities
biology.protein
Immunohistochemistry
Female
Collagen
Laminin
business
Restrictive dermopathy
Infant, Premature
Subjects
Details
- ISSN :
- 13990004 and 00099163
- Volume :
- 44
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi.dedup.....c6d227333dad261365b6cb08b83beaba