LEADER 04163nam 22006615 450 001 9910918594803321 005 20241220115626.0 010 $a9783031708350 010 $a3031708350 024 7 $a10.1007/978-3-031-70835-0 035 $a(MiAaPQ)EBC31855060 035 $a(Au-PeEL)EBL31855060 035 $a(CKB)37058976900041 035 $a(DE-He213)978-3-031-70835-0 035 $a(OCoLC)1482267341 035 $a(EXLCZ)9937058976900041 100 $a20241220d2024 u| 0 101 0 $aeng 135 $aurcnu|||||||| 181 $ctxt$2rdacontent 182 $cc$2rdamedia 183 $acr$2rdacarrier 200 14$aThe Extracellular Matrix in Genetic Skeletal Disorders /$fedited by Antonio Rossi, Frank Zaucke 205 $a1st ed. 2024. 210 1$aCham :$cSpringer Nature Switzerland :$cImprint: Springer,$d2024. 215 $a1 online resource (414 pages) 225 1 $aBiology of Extracellular Matrix,$x2191-1959 ;$v16 311 08$a9783031708343 311 08$a3031708342 327 $aPart 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. 330 $aThis book explores how defects in extracellular matrix (ECM) proteins, their post-translational modifications, and intracellular trafficking impact cartilage and bone integrity. It underscores the ECM's role in providing structural support, establishing morphogenetic gradients, and interacting with cell surface receptors in musculoskeletal tissues. The book delves into the structure and biology of the ECM in the skeleton, discussing skeletal disorders caused by mutations in genes associated with ECM proteins, synthesis, turnover, and signal transduction. Authored by experts who have made significant discoveries in the molecular mechanisms of skeletal disorders and are developing therapeutic strategies, this book is an invaluable research for both scientists and clinicians seeking a comprehensive understanding of this growing and exciting field. The series Biology of Extracellular Matrix is published in collaboration with the American Society for Matrix Biology and the International Society for Matrix Biology. 410 0$aBiology of Extracellular Matrix,$x2191-1959 ;$v16 606 $aCytology 606 $aMusculoskeletal system 606 $aClinical biochemistry 606 $aDiseases 606 $aCell Biology 606 $aMusculoskeletal system 606 $aMedical Biochemistry 606 $aMechanisms of Disease 615 0$aCytology. 615 0$aMusculoskeletal system. 615 0$aClinical biochemistry. 615 0$aDiseases. 615 14$aCell Biology. 615 24$aMusculoskeletal system. 615 24$aMedical Biochemistry. 615 24$aMechanisms of Disease. 676 $a571.6 700 $aRossi$b Antonio$0336364 701 $aZaucke$b Frank$01780939 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910918594803321 996 $aThe Extracellular Matrix in Genetic Skeletal Disorders$94305526 997 $aUNINA