The Extracellular Matrix in Genetic Skeletal Disorders
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...
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| Korporacja: | |
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| Kolejni autorzy: | , |
| Format: | Elektroniczne E-book |
| Język: | angielski |
| Wydane: |
Cham :
Springer Nature Switzerland : Imprint: Springer,
2024.
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| Wydanie: | 1st ed. 2024. |
| Seria: | Biology of Extracellular Matrix,
16 |
| Hasła przedmiotowe: | |
| Dostęp online: | https://doi.org/10.1007/978-3-031-70835-0 |
| Etykiety: |
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Spis treści:
- 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.