Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development-matrix components and their homeostasis

Autor:	S, Mundlos, B R, Olsen
Rok vydání:	1997
Předmět:	Mice Bone Development Cartilage Sulfates Animals Homeostasis Humans Biological Transport Collagen Osteochondrodysplasias Extracellular Matrix
Zdroj:	FASEB journal : official publication of the Federation of American Societies for Experimental Biology. 11(4)
ISSN:	0892-6638
Popis:	A range of osteochondrodysplasias is caused by mutations in components of the extracellular matrix in cartilage and bone and in molecules that are important for posttranslational processing of such components. Mutations in the genes encoding the two polypeptide subunits of collagen I cause defects in the structure of bone matrix while mutations in genes encoding cartilage-specific collagens are responsible for several chondrodysplasias. Abnormalities in cartilage structure and function can also be due to mutations in structural noncollagenous components such as aggrecan and cartilage oligomeric matrix protein. Finally, several cartilage and bone disorders are due to abnormalities in sulfate transport and regulation of bone matrix homeostasis.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=pmid________::2bd730c51ec074210eb253090db095c7 https://pubmed.ncbi.nlm.nih.gov/9068611 Zobrazit plný text záznamu Plný text