Extracellular Matrix in Genetic Skeletal Disorders

Part I: ECM proteins and skeletal disorders.- Chapter 1: Extracellular matrix and skeletal dysplasias.- Chapter 2: Osteogenesis imperfecta and related diseases - collagen I alterations in skeletal and extraskeletal tissues.- Chapter 3: Bone involvement in the Ehlers-Danlos syndromes.- Chapter 4: Collagen II mutations in inherited cartilage diseases: our current understanding of genotype-phenotype correlations.- Chapter 5: Skeletal disorders linked to GAG synthesis.- Chapter 6: GAG sulfation and skeletal disorders.- Chapter 7: The fibrillinopathies - fibrillin-dependent skeletal dysplasias affecting long bone growth.- Part II: ECM signaling and skeletal disorders.- Chapter 8: FGF signaling: a key pathway during skeletal development.- Chapter 9: Impaired Wnt signaling as a cause of skeletal disorders.- Chapter 10: The skeletal ciliopathies.- Part III: Intracellular trafficking of ECM proteins and related skeletal disorders.- Chapter 11: Microtubule-associated motor proteins in skeletal development and health.- Chapter 12: COG4 variant and Saul-Wilson Syndrome.- 13: Membrane trafficking to the extracellular matrix and skeletal dysplasia.

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• Medicina pré-clínica: ciências básicas
• Biologia Celular (citologia)
• Medicina músculo-esquelética, motricidade
• Anatomia
• Química

extracellular matrix;skeletal dysplasia;collagen;matrilin;COMP;proteoglycan;glycosaminoglycan;FGFR;KIF22;WNT;TRIP11;COG4;Sedlin;Osteogenesis Imperfecta;Marfan syndrome;osteopetrosis;mucopolysaccharidosis;ciliopathies