Publisher Summary Osteopetrosis results from a reduction in bone resorption relative to
bone formation, leading to an accumulation of excessive amounts of bone. The relative …

Autosomal dominant osteopetrosis (ADO), is a heritable disorder that results from a failure of
osteoclast-mediated bone resorption. The etiology of the disorder is unknown. A previous …

Background: Osteopetrosis, a genetic disease characterised by osteoclast failure, is
classified into three forms: infantile malignant autosomal recessive osteopetrosis (ARO) …

Abstract Human Autosomal Recessive Osteopetrosis (ARO) is a genetically heterogeneous
disorder caused by reduced bone resorption by osteoclasts. In 2000, we found that …

Mice that are homozygous for the recessive osteopetrosis spontaneous mutation (op/op)
develop severe osteopetrosis due to a defect in the production of macrophage colony …

Two principal types of osteopetrosis have been distinguished. One is the dominantly
inherited, relatively benign condition which is often detected radiologically in asymptomatic …

Osteopetrosis, a metabolic bone disease characterized by a generalized sclerosis of the
skeleton, is inherited as an autosomal recessive in a number of mammalian species. The …

Background Osteopetrosis and related osteoclastic disorders are a heterogeneous group of
inherited diseases characterized by increased bone density. The aim of this study is to …

Introduction 3. Clinical perspective, genetic aberrations of human osteopetrosis 3.1. Human
infantile malignant autosomal recessive OP (arOP) 3.2. Intermediate forms of arOP 3.3 …

Osteopetrosis is an inherited disorder characterized by bone sclerosis due to reduced bone
resorption. Here we report that human osteopetrotic osteoblast-like (Ob) cells express a …