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Osteogenesis imperfecta articles from across Nature Portfolio
Osteogenesis imperfecta is a heritable connective tissue disease arising from defects related to type I collagen, most often mutations in COL1A1 or COL1A2. The clinical presentation is characterized by skeletal fragility and primary osteoporosis.
Latest Research and Reviews
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Scientific Reports 12, 17125
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| Open AccessAno5 modulates calcium signaling during bone homeostasis in gnathodiaphyseal dysplasia
npj Genomic Medicine 7, 48 -
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| Open AccessControl of osteocyte dendrite formation by Sp7 and its target gene osteocrin
Nature Communications 12, 6271 -
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| Open AccessGeneration of novel genetically modified rats to reveal the molecular mechanisms of vitamin D actions
Scientific Reports 10, 5677 -
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| Open AccessA novel PHEX mutation associated with vitamin D-resistant rickets
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