04359nam a22005775i 4500 978-3-031-70835-0 DE-He213 20251030114629.0 cr nn 008mamaa 241220s2024 sz | s |||| 0|eng d 9783031708350 978-3-031-70835-0 10.1007/978-3-031-70835-0 doi QH573-671 PSF bicssc SCI017000 bisacsh PSF thema The Extracellular Matrix in Genetic Skeletal Disorders [electronic resource] / edited by Antonio Rossi, Frank Zaucke. 1st ed. 2024. Cham : Springer Nature Switzerland : Imprint: Springer, 2024. X, 410 p. 31 illus., 29 illus. in color. online resource. text txt rdacontent computer c rdamedia online resource cr rdacarrier text file PDF rda Biology of Extracellular Matrix, 2191-1959 ; 16 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. This 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. Cytology. 67436 Musculoskeletal system. 80061 Clinical biochemistry. 67825 Diseases. 68840 Cell Biology. 67440 Musculoskeletal system. 80061 Medical Biochemistry. 67828 Mechanisms of Disease. 81824 Rossi, Antonio. editor. edt http://id.loc.gov/vocabulary/relators/edt 89238 Zaucke, Frank. editor. edt http://id.loc.gov/vocabulary/relators/edt 89239 SpringerLink (Online service) Springer Nature eBook Printed edition: 9783031708343 Printed edition: 9783031708367 Printed edition: 9783031708374 Biology of Extracellular Matrix, 2191-1959 ; 16 87072 https://doi.org/10.1007/978-3-031-70835-0 ZDB-2-SBL ZDB-2-SXB 65877 65877