[Genetic basis for skeletal disease. Genetic defects in chondrodysplasia].
Chondrodysplasia is a subset of skeletal dysplasia caused by genetic defects affecting chondrogenesis and its development, showing abnormal shape and structure of the skeleton. Pathology of growth plate results in defective skeletal development, such as short stature, while pathology of articular cartilage predisposes degenerative skeletal disease, such as early-onset osteoarthritis. Recently identified genetic basis for chondrodysplasia contributed much in understanding the biology and pathology of cartilage. The accumulated knowledge would be a clue to develop fundamental treatment for chondrodysplasia.
Matsui
Yoshito
Y
Department of Orthopaedics, Toyama University Hospital.
D000130:Achondroplasia / Q000145:classification / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D000328:Adult; D002358:Cartilage, Articular / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D024043:Collagen Type II / Q000235:genetics; D005097:Exostoses, Multiple Hereditary / Q000145:classification / Q000235:genetics* / Q000473:pathology / Q000628:therapy; D005260:Female; D006132:Growth Plate / Q000473:pathology; D006801:Humans; D008297:Male; D009154:Mutation; D010003:Osteoarthritis / Q000209:etiology; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics
D024043:Collagen Type II; C496365:FGFR3 protein, human; D051498:Receptor, Fibroblast Growth Factor, Type 3