Autosomal recessive osteopetrosis: case report of two siblings

A Subramaniam, A Singh, M Chavan, S Kunte - Oral Radiology, 2008 - Springer
Malignant osteopetrosis is a rare congenital disorder of bone resorption, occurring in less
than 1 in 200 000 births. It is caused by the failure of osteoclasts to resorb immature bone …

Study of the nonresorptive phenotype of osteoclast‐like cells from patients with malignant osteopetrosis: A new approach to investigating pathogenesis

AM Flanagan, U Sarma, CG Steward… - Journal of bone and …, 2000 - academic.oup.com
Osteopetrosis manifests as failure of osteoclastic bone resorption. The cause of the disease
lies either in the hematopoietic lineage or in the bone marrow stromal microenvironment. It …

Granulocyte/macrophage colony-stimulating factor and interleukin-3 correct osteopetrosis in mice with osteopetrosis mutation

YY Myint, K Miyakawa, M Naito, LD Shultz… - The American journal of …, 1999 - Elsevier
Although young mice homozygous for the osteopetrosis (op) mutation usually developed
prominent osteopetrosis, its severity was markedly reduced in aged op/op mice. This age …

Autosomal dominant osteopetrosis: clinical severity and natural history of 94 subjects with a chloride channel 7 gene mutation

SG Waguespack, SL Hui, LA DiMeglio… - The Journal of Clinical …, 2007 - academic.oup.com
Context: Autosomal dominant osteopetrosis (ADO) is a sclerosing bone disorder caused by
heterozygous mutations in the chloride channel 7 (ClCN7) gene. The clinical manifestations …

Prospects for gene therapy of osteopetrosis

M Askmyr, C Flores, A Fasth, J Richter - Current gene therapy, 2009 - ingentaconnect.com
Dysfunction in or lack of osteoclasts result in osteopetrosis, a group of rare but often severe,
genetic disorders characterized by an increase in bone mass, skeletal malformations and …

[HTML][HTML] Malignant infantile osteopetrosis: a case report

DK Bubshait, ZE Himdy, O Fadaaq, HI Alshmas - Cureus, 2020 - ncbi.nlm.nih.gov
Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary
skeletal disorders that have the main radiographic feature of increased bone density and …

Autosomal dominant osteopetrosis: bone metabolism and epidemiological, clinical, and hormonal aspects

J Bollerslev - Endocrine reviews, 1989 - academic.oup.com
AN ADULT with diffuse radiological osteosclerosis, enlarged corticalis, narrowed marrow
space, and associated multiple fractures was described as a new clinical entity for the first …

Osteopetrosis and its relevance for the discovery of new functions associated with the skeleton

AE Coudert, MC de Vernejoul… - International journal …, 2015 - Wiley Online Library
Osteopetrosis is a rare genetic disorder characterized by an increase of bone mass due to
defective osteoclast function. Patients typically displayed spontaneous fractures, anemia …

Skeletal dysplasias with increased bone density: evolution of molecular pathogenesis in the last century

S Aggarwal - Gene, 2013 - Elsevier
Skeletal dysplasias (SKD) with increased bone density form a discrete group of SKDs as per
the Nosology and Classification of Genetic Skeletal Disorders, 2010 Revision. This group …

Rheumatoid arthritis associated with osteopetrosis

Y Kadono, S Tanaka, J Nishino, K Nishimura… - Modern …, 2009 - Springer
Osteopetrosis is an inherited disorder characterized by reduced bone resorption. We here
report a rare case of osteopetrosis associated with rheumatoid arthritis. The patient was …