Receptor activator of NF-κB (RANK) ligand (RANKL) induces the differentiation of monocyte/
macrophage–lineage cells into the bone–resorbing cells called osteoclasts. Because …

Hereditary metabolic bone diseases are characterized by genetic abnormalities in skeletal
homeostasis and encompass one of the most diverse groups among rare diseases. In this …

Among the numerous molecules that are being studied for their potential utility as
biomarkers of cardiovascular diseases, much interest has been shown in the superfamily of …

Paget's disease of bone (PDB) is the second most prevalent metabolic bone disorder
worldwide, with a prevalence rate of 1.5%–8.3%. It is characterized by localized areas of …

Juvenile Paget disease (JPD) is a rare disorder, mainly caused by mutations in the gene
TNFRSF11B that encodes osteoprotegerin (OPG). Loss of OPG action causes generalized …

Several rare inherited disorders have been described that show phenotypic overlap with
Paget's disease of bone (PDB) and in which PDB is a component of a multisystem disorder …

Mendelian disorders of RANKL/OPG/RANK signaling feature the extremes of aberrant
osteoclastogenesis and cause either osteopetrosis or rapid turnover skeletal disease. The …

Paget's disease of bone (PDB) is a late‐onset chronic progressive bone disease
characterized by abnormal activation of osteoclasts that results in bone pain, deformities …

Abstract The RANKL/OPG/RANK signalling pathway is a major regulatory system for
osteoclast formation and activity. Mutations in TNFSF11, TNFRSF11B and TNFRSF11A …

Abstract Introduction: Juvenile Paget's disease (JPD), an ultra-rare, debilitating bone
disease due to loss of functional osteoprotegerin (OPG), is caused by recessive mutations in …