Recent developments in the understanding of the pathophysiology of osteopetrosis

R Felix, W Hofstetter, MG Cecchini - European journal of …, 1996 - academic.oup.com
Abstract Felix R, Hofstetter W, Cecchini MG. Recent developments in the understanding of
the pathophysiology of osteopetrosis. Eur J Endocrinol 1996; 134: 143–56. ISSN 0804 …

Ultrastructural investigations of bone resorptive cells in two types of autosomal dominant osteopetrosis

J Bollerslev, SC Marks Jr, S Pockwinse, M Kassem… - Bone, 1993 - Elsevier
In order to investigate the ultrastructure of bone resorptive cells in the two types of adult
benign human osteopetrosis, iliac crest biopsies were obtained from 11 patients and 10 …

Osteoclast biology in the osteopetrotic (op) rat

SC Marks Jr, SN Popoff - American journal of anatomy, 1989 - Wiley Online Library
Osteopetrosis is a metabolic bone disease characterized by reduced bone resorption. From
experimental studies of various osteopetrotic mutations has emerged the hypothesis that …

Disease status in autosomal dominant osteopetrosis type 2 is determined by osteoclastic properties

K Chu, R Snyder, MJ Econs - Journal of Bone and Mineral …, 2006 - academic.oup.com
Asymptomatic gene carriers and clinically affected ADO2 subjects have the same ClCN7
mutation. We examined osteoclastic bone resorption in vitro as well as osteoclast formation …

Osteopetrosis

J Tolar, SL Teitelbaum, PJ Orchard - New England Journal of …, 2004 - Mass Medical Soc
This review of the mechanism of osteopetrosis incriminates molecular defects in osteoclasts
as the cause of the imbalance between bone formation by osteoblasts and bone resorption …

Phenotype-autosomal recessive osteopetrosis

NR Pillai, A Aggarwal, P Orchard - Bone, 2022 - Elsevier
Osteopetrosis (OPT) is a life-threatening disease characterized by increased bone mass
caused by diminished osteoclast function/differentiation. The autosomal recessive forms …

Congenital osteopetrotic mutations as probes of the origin, structure, and function of osteoclasts.

SC MARKS JR - … Orthopaedics and Related Research (1976-2007 …, 1984 - journals.lww.com
Progress has been made in recent years on the cell biology of the osteoclast and the
pathogenesis of congenital osteopetrosis. New information is critically evaluated and …

Animal models of osteopetrosis: the impact of recent molecular developments on novel strategies for the therapeutic intervention

SN Popoff, GB Schneider - Molecular Medicine Today, 1996 - Elsevier
Osteopetrosis comprises a group of rare metabolic diseases of skeletal development that
are characterized by a generalized increase in skeletal mass resulting from reduced …

Osteopetrosis

MP Whyte - Connective tissue and its heritable disorders …, 2002 - Wiley Online Library
Osteopetrosis results from diminished osteoclast action. Defective skeletal resorption is
revealed by the persistence of primary spongiosa deposited during endochondral bone …

Genetics of osteopetrosis

E Palagano, C Menale, C Sobacchi, A Villa - Current osteoporosis reports, 2018 - Springer
Abstract Purpose of Review The term osteopetrosis refers to a group of rare skeletal
diseases sharing the hallmark of a generalized increase in bone density owing to a defect in …