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