Human osteopetrosis and other sclerosing disorders: recent genetic developments

MC Vernejoul, O Benichou - Calcified Tissue International, 2001 - search.proquest.com
Osteopetroses are rare human genetic disorders due to markedly decreased bone
resorption. To date, the only gene whose inactivation was known to be responsible for …

A clinical and molecular overview of the human osteopetroses

W Balemans, L Van Wesenbeeck… - Calcified tissue …, 2005 - Springer
The osteopetroses are a heterogeneous group of bone remodeling disorders characterized
by an increase in bone density due to a defect in osteoclastic bone resorption. In humans …

Osteopetrosis--multiple pathways for the interception of osteoclast function.

SC Marks Jr - Applied Pathology, 1987 - europepmc.org
Osteopetrosis is a metabolic bone disease inherited in a number of species including
human beings and characterized by a generalized increase in skeletal density detected …

Osteopetrosis.

MS Kocher, JR Kasser - … Journal of Orthopedics (Belle Mead, NJ), 2003 - europepmc.org
Osteopetrosis is a rare skeletal condition characterized by skeletal sclerosis caused by
aberrant osteoclast-mediated bone resorption. Three clinically distinct forms of osteopetrosis …

Osteoclast populations in congenital 0steopetrosis: Additional evidence of heterogeneity

CR Marks, MF Seifert, SC Marks III - Metabolic Bone Disease and Related …, 1984 - Elsevier
Osteopetrosis is a metabolic bone disease characterized by excessive accumulation of
skeletal mass due to a reduction in bone resorption. The pathogenesis of osteopetrosis is …

Experimental studies of osteopetrosis in laboratory animals

MF Seifert, SN Popoff, ME Jackson… - Clinical Orthopaedics …, 1993 - journals.lww.com
Osteopetrosis is a metabolic bone disease characterized by a systemic increase in skeletal
mass. It results from a defect in the production or function of osteoclasts and is inherited in …

Infantile malignant, autosomal recessive osteopetrosis: the rich and the poor

A Villa, MM Guerrini, B Cassani, A Pangrazio… - Calcified tissue …, 2009 - Springer
Human recessive osteopetrosis (ARO) represents a group of diseases in which, due to a
defect in osteoclasts, bone resorption is prevented. The deficit could arise either from failure …

Human Autosomal Recessive Osteopetrosis Maps to 11q13, a Position Predicted by Comparative Mapping of the Murine Osteosclerosis (oc) Mutation

C Heaney, H Shalev, K Elbedour… - Human molecular …, 1998 - academic.oup.com
Autosomal recessive osteopetrosis is a rare congenital disorder characterized by the
development of abnormally dense bones, acrocephaly, severe anemia …

Advances in osteoclast biology resulting from the study of osteopetrotic mutations

T Segovia-Silvestre, AV Neutzsky-Wulff, MG Sorensen… - Human genetics, 2009 - Springer
Osteopetrosis is the result of mutations affecting osteoclast function. Careful analyses of
osteopetrosis have provided instrumental information on bone remodeling, including the …

Lessons from osteopetrotic mutations in animals: impact on our current understanding of osteoclast biology

L Van Wesenbeeck, W Van Hul - Critical Reviews™ in …, 2005 - dl.begellhouse.com
Throughout life, bone tissue is in a constant state of turnover. This process of bone
remodeling is the result of a combination of sequential removal of bone tissue by osteoclasts …