Osteogenesis imperfecta (OI) is the most common genetic form of the brittle bone disease characterized by short stature, skeletal deformities, low bone mass, and motor deficits. A subset of patients ...
In a recent study, Associate Professor Makoto Ikeya (Department of Clinical Application) and his team of researchers successfully established a method to generate jawbone-like organoids (mini-organs) ...
Mutations in the genes COL1A1, COL1A2, CRTAP, and P3h2 result in OI. In most cases, the inheritance pattern is autosomal dominant and, in some cases, it could also be autosomal recessive. The gene ...