Searchable abstracts of presentations at key conferences on calcified tissues

ba0005p216 | Chondrocytes and cartilage | ECTS2016

The role of CANT1 in skeletal development with a mouse model of Desbuquois dysplasia type 1

Monti Luca , Costantini Rossella , Paganini Chiara , Lecci Silvia , Maruelli Silvia , Biggiogera Marco , Cormier-Daire Valerie , Forlino Antonella , Rossi Antonio

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 ...