Abstract
Osteoporosis is a systemic skeletal disease characterized by low bone mass and the microarchitectural deterioration of bone tissue. The pathophysiology of osteoporosis is complex, involving a broad spectrum of endogenous and environmental factors. Recently, molecular and genetic approaches are revealing that genetic backgrounds are important for the pathophysiology of osteoporosis. We discuss about recent findings of osteoporosis and osteopenia caused by monogenic mutations in humans and mice.
MeSH terms
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Animals
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Bone Diseases, Metabolic / genetics*
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Glycoproteins / genetics
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Humans
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LDL-Receptor Related Proteins / genetics
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Low Density Lipoprotein Receptor-Related Protein-5
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Mice
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Mice, Mutant Strains
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Mice, Transgenic
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Osteitis Deformans / genetics
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Osteogenesis Imperfecta / genetics
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Osteoporosis / genetics*
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Osteoprotegerin
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Receptors, Cytoplasmic and Nuclear / genetics
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Receptors, Tumor Necrosis Factor / genetics
Substances
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Glycoproteins
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LDL-Receptor Related Proteins
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LRP5 protein, human
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Low Density Lipoprotein Receptor-Related Protein-5
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Lrp5 protein, mouse
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Osteoprotegerin
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Receptors, Cytoplasmic and Nuclear
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Receptors, Tumor Necrosis Factor
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TNFRSF11B protein, human
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Tnfrsf11b protein, mouse