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Pregled bibliografske jedinice broj: 73971

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Autori: Primorac, Dragan; Rowe, David; Mottes, Monica; Barišić, Ingeborg; Antičević, Darko; Mirandola, Stefania; Gomez Lira, Macarena; Kalajzić, Ivo; Kušec, Vesna; Glorieux, Francis
Naslov: Osteogenesis imperfecta: current concepts
Izvornik: The Second European-American Intensive Course in Clinical and Forensic Genetics / Primorac, Dragan (ur.). - Zagreb :
Skup: 2nd European-American Intensive Course in Clinical and Forensic Genetics
Mjesto i datum: Dubrovnik, Hrvatska, 03-14.09.2001.
Ključne riječi: osteogenesis imperfecta; collagen; dentinogenesis imperfecta; mutations; gene therapy
Osteogenesis imperfecta (OI), or brittle bone disease is a heritable disorder characterized by increased bone fragility. Four different types are commonly distinguished that range 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 will be described in this paper in great detail. There are instances, however, where alterations in bone matrix compononents, other than type I collagen, are the basic abnormalities. 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 understoodcomplexity of the phenotype-genotype correlation in OI. Here will also be discussed a bisphosphonates treatment as well as fracure management and surgical correction of deformities observed in the patients with OI. However, ulimately, strenghthening bone in OI will involve steps to correct the underlying genetic mutations that are responsible for this disorder. In this reviwe we will also give different genetic therapeutic approaches that have been tested either on OI cells or on available OI murine models.
Vrsta sudjelovanja: Predavanje
Vrsta prezentacije u zborniku: Sažetak
Vrsta recenzije: Međunarodna recenzija
Projekt / tema: 072777
Izvorni jezik: ENG
Kategorija: Znanstveni
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