Bone Abstracts

Dominant osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility and growth delay. Nowadays no definitive cure is available. A zebrafish OI model (Chihuahua) carrying an heterozygous G574D substitution in the α1 chain of collagen type I was generated by ENU mutagenesis and is available in our laboratory. Control (WT) and mutant (Chi+/−) fish growth was followed up from day 1 post fertilization to ...

Desbuquois dysplasia (DBQD) is a rare recessive chondrodysplasia, characterized by growth retardation, multiple dislocations and advanced carpal ossification. Two forms of DBQD have been described on the basis of the presence (type 1) or absence (type 2) of characteristic hand anomalies. DBQD type 1 is caused by mutations in the Calcium-Activated Nucleotidase 1 gene (CANT1), while DBQD type 2 is caused by mutations in the xylosiltransferase 1 gene.CANT1 ...

Objectives: Osteogenesis imperfecta (OI) is a bone disease mainly caused by collagen type I mutations and characterized by bone fragility. No definitive cure is available and the search for novel treatments is necessary. The small teleost D. rerio is particularly appealing for drug screening approaches. A zebrafish OI model (Chihuahua) carrying in heterozygosis the G574D substitution in the α1 chain of collagen type I is available. To use this model for ...