The Extracellular Matrix in Genetic Skeletal Disorders / edited by Antonio Rossi, Frank Zaucke.

Format:

Book

Author/Creator:

Rossi, Antonio.

Contributor:

Zaucke, Frank.

Series:

Biology of Extracellular Matrix, 2191-1959 ; 16

Language:

English

Subjects (All):

Cytology.

Musculoskeletal system.

Clinical biochemistry.

Diseases.

Cell Biology.

Medical Biochemistry.

Mechanisms of Disease.

Local Subjects:

Cell Biology.

Musculoskeletal system.

Medical Biochemistry.

Mechanisms of Disease.

Physical Description:

1 online resource (414 pages)

Edition:

1st ed. 2024.

Place of Publication:

Cham : Springer Nature Switzerland : Imprint: Springer, 2024.

Summary:

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.

Contents:

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.

Notes:

Description based on publisher supplied metadata and other sources.

ISBN:

9783031708350

3031708350

OCLC:

1482267341