We have screened type I procollagen synthesized in vitro by skin fibroblasts from several patients with the severe non-lethal form of osteogenesis imperfecta. Cells from one patient synthesized and secreted both normal and a larger amount of abnormal type I procollagen. The abnormal alpha chains are
Mutations in Osteogenesis Imperfecta Leading to the Synthesis of Abnormal Type I Procollagens
โ Scribed by DARWIN J. PROCKOP; MON-LI CHU; WOUTER DE WET; JEANNE C. MYERS; TAINA PIHLAJANIEMI; FRANCESCO RAMIREZ; MARIA SIPPOLA
- Book ID
- 118722913
- Publisher
- John Wiley and Sons
- Year
- 1985
- Tongue
- English
- Weight
- 549 KB
- Volume
- 460
- Category
- Article
- ISSN
- 0890-6564
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Various mutations of genes encoding type I procollagen chains have been linked to osteogenesis imperfecta (OI). The mutations yield abnormal procollagen molecules that fold improperly. HSP 47, a stress-inducible protein localized to the endoplasmic reticulum (ER) of collagen-producing cells, may par
## Communicated by Richard G.H. Cotton Mutations in the type I collagen genes COL1A1 and COL1A2 are responsible for the dominantly inherited connective tissue disorder osteogenesis imperfecta (OI). The severity of OI is diverse, ranging from perinatal lethality to a very mild phenotype that is cha