title: [Molecular genetics and bone diseases].
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.
authors.affiliation: Dipartimento di Biologia Molecolare, Università degli Studi, Siena.
authors.forename: A
authors.initials: A
authors.lastname: Renieri
authors.forename: N
authors.initials: N
authors.lastname: Giordano
authors.forename: S
authors.initials: S
authors.lastname: Geraci
authors.forename: C
authors.initials: C
authors.lastname: Gennari
mesh_terms: D015519:Bone Density; D001847:Bone Diseases / Q000235:genetics*; D001842:Bone and Bones / Q000378:metabolism; D003238:Connective Tissue / Q000378:metabolism; D006801:Humans; D008967:Molecular Biology