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., Giordano, N., Geraci, S., Gennari, C. (2000). Molecular genetics and bone diseases. ANNALI DELL'ISTITUTO SUPERIORE DI SANITÀ, 36(1), 89-98.
Molecular genetics and bone diseases
RENIERI A.;GIORDANO N.;
2000-01-01
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
https://hdl.handle.net/11365/7357
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