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The extracellular matrix in genetic skeletal disorders

Record Type:	Electronic resources : Monograph/item
Title/Author:	The extracellular matrix in genetic skeletal disorders/ edited by Antonio Rossi, Frank Zaucke.
other author:	Rossi, Antonio.
Published:	Cham :Springer Nature Switzerland : : 2024.,
Description:	x, 410 p. :ill. (chiefly color), digital ;24 cm.
[NT 15003449]:	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.
Contained By:	Springer Nature eBook
Subject:	Extracellular matrix proteins. -
Online resource:	https://doi.org/10.1007/978-3-031-70835-0
ISBN:	9783031708350

The extracellular matrix in genetic skeletal disorders
The extracellular matrix in genetic skeletal disorders[electronic resource] /edited by Antonio Rossi, Frank Zaucke. - Cham :Springer Nature Switzerland :2024. - x, 410 p. :ill. (chiefly color), digital ;24 cm. - Biology of extracellular matrix,v. 162191-1959 ;. - Biology of extracellular matrix ;v. 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.

ISBN: 9783031708350

Standard No.: 10.1007/978-3-031-70835-0doiSubjects--Topical Terms:

1085041
Extracellular matrix proteins.

LC Class. No.: QP552.E95

Dewey Class. No.: 572.6

The extracellular matrix in genetic skeletal disorders
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300 $a x, 410 p. : $b ill. (chiefly color), digital ; $c 24 cm.
490 1 $a Biology of extracellular matrix, $x 2191-1959 ; $v v. 16
505 0 $a 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.
520 $a 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.
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650 0 $a Musculoskeletal system $x Diseases $x Genetic aspects. $3 3754013
650 1 4 $a Cell Biology. $3 892383
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650 2 4 $a Medical Biochemistry. $3 892387
650 2 4 $a Mechanisms of Disease. $3 3661371
700 1 $a Rossi, Antonio. $3 3754010
700 1 $a Zaucke, Frank. $3 3754011
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830 0 $a Biology of extracellular matrix ; $v v. 16. $3 3754012
856 4 0 $u https://doi.org/10.1007/978-3-031-70835-0
950 $a Biomedical and Life Sciences (SpringerNature-11642)