The genetic defects that cause human infantile malignant osteopetrosis, a disease with
recessive inheritance characterized by lack of bone resorption and the presence of large …

Mutations in the TCIRG1 gene, coding for a subunit of the osteoclast proton pump, are
responsible for more than 50% of cases of human malignant autosomal recessive …

Osteopetrosis (OPT) is a rare inherited bone disease characterized by a bone resorption
defect, due to osteoclast malfunction (in osteoclast-rich, oc-rich, OPT forms) or absence (in …

Autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder attributed
to reduced bone resorption by osteoclasts. Most human AROs are classified as osteoclast …

Osteopetrosis is a rare hereditary bone disorder that presents in one of three forms:
osteopetrosis tarda, osteopetrosis congenita and “marble bone” disease. Osteopetrosis …

Among the high bone mass disorders, the osteopetroses reflect osteoclast failure that
prevents skeletal resorption and turnover, leading to reduced bone growth and modeling …

Osteopetrosis is a metabolic bone disease characterized by reduced bone resorption of
heterogenous cause. The rabbit mutation is lethal and exhibits ultrastructural aberrations in …

Bone biopsies were obtained from two infants with the malignant form of congenital
osteopetrosis. Nondecalcified histological sections of each biopsy contained vast numbers …

Osteopetrosis is a hereditary disorder in which pathologic alteration of osteoclast resorption
of bone results in thickening of cortical and lamellar bone. Before bone marrow …

Systematic studies of autosomal dominant osteopetrosis (ADO) were followed by the
identification of underlying mutations giving unique possibilities to perform translational …