Osteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous skeletal
dysplasia characterized by bone fragility, growth deficiency, and skeletal deformity …

A new paradigm has emerged for osteogenesis imperfecta as a collagen-related disorder.
The more prevalent autosomal dominant forms of osteogenesis imperfecta are caused by …

Osteogenesis imperfecta is a genetic disorder characterized by low bone mass, decreased
bone strength, increased bone fragility, and shortened stature. Autosomal dominant …

Zmpste24 is an integral membrane metalloproteinase of the endoplasmic reticulum.
Biochemical studies of tissues from Zmpste24-deficient mice (Zmpste24−/−) have indicated …

Osteoporosis is a common multifactorial disorder of reduced bone mass. The disorder in its
most common form is generalized, affecting the elderly, both sexes, and all racial groups …

The major clinical feature that defines osteogenesis imperfecta (OI) is bone fragility. We
begin the chapter with a discussion of the history, prevalence, and classification of OI. After a …

Osteogenesis imperfecta (OI) is a monogenic bone fragility disorder that usually is caused
by mutations in one of the two genes coding for collagen type I alpha chains, COL1A1 or …

Bone is a complex tissue constituted by a collagen matrix filled in with crystal of
hydroxyapatite (HAP). Bone mechanical properties are influenced by the collagen matrix …

Osteogenesis Imperfecta (OI) is a genetic disorder characterized by various clinical features
including bone deformities, low bone mass, brittle bones, and connective tissue …

Several genetic disorders affecting bone mineralization may manifest during dentin
mineralization. Dentin and bone are similar in several aspects, especially pertaining to the …