Osteopetrosis: genetics, treatment and new insights into osteoclast function

C Sobacchi, A Schulz, FP Coxon, A Villa… - Nature Reviews …, 2013 - nature.com
Osteopetrosis is a genetic condition of increased bone mass, which is caused by defects in
osteoclast formation and function. Both autosomal recessive and autosomal dominant forms …

Bone remodelling at a glance

JC Crockett, MJ Rogers, FP Coxon… - Journal of cell …, 2011 - journals.biologists.com
The bone remodelling cycle (see Poster panel “The bone remodelling cycle”) maintains the
integrity of the skeleton through the balanced activities of its constituent cell types. These are …

Genetics of osteoporosis

SH Ralston, AG Uitterlinden - Endocrine reviews, 2010 - academic.oup.com
Osteoporosis is a common disease with a strong genetic component characterized by
reduced bone mass, defects in the microarchitecture of bone tissue, and an increased risk of …

Osteopetrosis

Z Stark, R Savarirayan - Orphanet journal of rare diseases, 2009 - Springer
Abstract Osteopetrosis (" marble bone disease") is a descriptive term that refers to a group of
rare, heritable disorders of the skeleton characterized by increased bone density on …

Chemokines in physiological and pathological bone remodeling

LJ Brylka, T Schinke - Frontiers in immunology, 2019 - frontiersin.org
The bone matrix is constantly remodeled by bone-resorbing osteoclasts and bone-forming
osteoblasts. These two cell types are fundamentally different in terms of progenitor cells …

The osteoclast in bone metastasis: player and target

A Maurizi, N Rucci - Cancers, 2018 - mdpi.com
Bone metastases are frequently the final fate of breast and prostate cancer patients.
According to the definition of metastasis as an incurable disease, to date there are no …

Rheumatoid arthritis in the view of osteoimmunology

M Auréal, I Machuca-Gayet, F Coury - Biomolecules, 2020 - mdpi.com
Rheumatoid arthritis is characterized by synovial inflammation and irreversible bone
erosions, both highlighting the immense reciprocal relationship between the immune and …

Genome-wide association study identifies variants at CSF1, OPTN and TNFRSF11A as genetic risk factors for Paget's disease of bone

OME Albagha, MR Visconti, N Alonso, AL Langston… - Nature …, 2010 - nature.com
Paget's disease of bone (PDB) is a common disorder with a strong genetic component
characterized by focal increases in bone turnover, which in some cases is caused by …

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 …

New knowledge on critical osteoclast formation and activation pathways from study of rare genetic diseases of osteoclasts: focus on the RANK/RANKL axis

JC Crockett, DJ Mellis, DI Scott, MH Helfrich - Osteoporosis International, 2011 - Springer
Functional, biochemical and genetic studies have over the past decade identified many
causative genes in the osteoclast diseases osteopetrosis and Paget's disease of bone …