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- W3088507536 endingPage "109789" @default.
- W3088507536 startingPage "109789" @default.
- W3088507536 abstract "Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous connective tissue disorder characterized by bone fragility and skeletal deformity. To maintain skeletal strength and integrity, bone undergoes constant remodeling of its extracellular matrix (ECM) tightly controlled by osteoclast-mediated bone resorption and osteoblast-mediated bone formation. There are at least 20 recognized OI-forms caused by mutations in the two collagen type I-encoding genes or genes implicated in collagen folding, posttranslational modifications or secretion of collagen, osteoblast differentiation and function, or bone mineralization. The underlying disease mechanisms of non-classical forms of OI that are not caused by collagen type I mutations are not yet completely understood, but an altered ECM structure as well as disturbed intracellular homeostasis seem to be the main defects. The ECM orchestrates local cell behavior in part by regulating bioavailability of signaling molecules through sequestration, release and activation during the constant bone remodeling process. Here, we provide an overview of signaling pathways that are associated with known OI-causing genes and discuss the impact of these genes on signal transduction. These pathways include WNT-, RANK/RANKL-, TGFβ-, MAPK- and integrin-mediated signaling as well as the unfolded protein response." @default.
- W3088507536 created "2020-10-01" @default.
- W3088507536 creator A5003277758 @default.
- W3088507536 creator A5008944785 @default.
- W3088507536 creator A5018491631 @default.
- W3088507536 creator A5050789439 @default.
- W3088507536 creator A5063917292 @default.
- W3088507536 creator A5075572225 @default.
- W3088507536 date "2020-12-01" @default.
- W3088507536 modified "2023-10-11" @default.
- W3088507536 title "Signaling pathways affected by mutations causing osteogenesis imperfecta" @default.
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