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PubMed · 11070612

[Molecular genetics and bone diseases].

A Renieri·N Giordano·S Geraci·C Gennari
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Abstract

The authors describe the molecular mechanisms determining some skeletal diseases, in particular those due to a well-defined, single genic defect. In fact, they examine the hereditary disorders due to mutations in the genes encoding the different collagen types and the hereditary diseases secondary to the defects in: a) the structural proteins of cartilage; b) the enzymes and the sulfate transporters of proteoglycans; c) the transcription factors; d) the growth factors. At the end, the authors emphasize the importance of the genetic studies on animal models, for understanding the etiopathogenesis of many human hereditary disorders.

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Bone DensityBone DiseasesBone and BonesConnective TissueHumansMolecular BiologyEnglish AbstractJournal ArticleReview

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A Renieri, N Giordano, S Geraci, C Gennari. 2000. [Molecular genetics and bone diseases].. https://pubmed.ncbi.nlm.nih.gov/11070612/

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