The Rossi, Antonio. editor. edt http://id.loc.gov/vocabulary/relators/edt Zaucke, Frank. editor. edt http://id.loc.gov/vocabulary/relators/edt SpringerLink (Online service) text sz 2024 1st ed. 2024. monographic eng

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access X, 410 p. 31 illus., 29 illus. in color. online resource. 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. 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. edited by Antonio Rossi, Frank Zaucke. Cytology Musculoskeletal system Clinical biochemistry Diseases Cell Biology Musculoskeletal system Medical Biochemistry Mechanisms of Disease QH573-671 9783031708350 https://doi.org/10.1007/978-3-031-70835-0 https://doi.org/10.1007/978-3-031-70835-0 241220 20251030114629.0 978-3-031-70835-0