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Pregled bibliografske jedinice broj: 73739


Autori: Primorac, Dragan; Rowe, David, W; Mottes, Monica; Barišić, Ingeborg; Antičević, Darko; Mirandola, Stefania; Gomez Lira, Macarena; Kalajzić, Ivo; Kušec, Vesna; Glorieux, Francis, H
Naslov: Osteogenesis imperfecta at the beginning of bone and joint decade
Izvornik: Croatian Medical Journal (0353-9504) 42 (2001), 4; 393-415
Vrsta rada: pregledni rad
Ključne riječi: collagen; dentinogenesis imperfecta; gene therapy; genetics; mutation; osteogenesis imperfecta; syndrome
Osteogenesis imperfecta (OI), or brittle bone disease, is a heritable disorder characterized by increased bone fragility. Four different types of the disease are commonly distinguished, ranging from a mild condition (type I) to a lethal one (type II). Types III and IV are the severe forms surviving the neonatal period. In most cases, there is a reduction in the production of normal type I collagen or the synthesis of abnormal collagen as a result of mutations in the type I collagen genes. These � classic� forms of OI are described in this review. There are instances, however, where alterations in bone matrix components, other than type I collagen, are the basic abnormalities of the OI. Recently, three such discrete types have been identified by histomorphometric evaluation (types V and VI) and linkage analysis (Rhizomelic OI). They provide evidence for the as yet poorly understood complexity of the phenotype-genotype correlation in OI. We also discuss bisphosphonates treatment as well as fracture management and surgical correction of deformities observed in the patients with OI. However, ultimately, strengthening bone in OI will involve steps to correct the underlying genetic mutations that are responsible for this disorder. Thus, we also describe different genetic therapeutic approaches that have been tested either on OI cells or on available OI murine models.
Projekt / tema: 072777
Izvorni jezik: ENG
Rad je indeksiran u
bazama podataka:
Current Contents Connect (CCC)
Science Citation Index Expanded (SCI-EXP) (sastavni dio Web of Science Core Collectiona)
Kategorija: Ostalo
Znanstvena područja:
Javno zdravstvo i zdravstvena zaštita
URL cjelovitog teksta:
Google Scholar: Osteogenesis imperfecta at the beginning of bone and joint decade

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