國立虎尾科技大學 |

The extracellular matrix in genetic skeletal disorders

Record Type:	Language materials, printed : 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.;
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. 14..

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:

812300
Extracellular matrix proteins.

LC Class. No.: QP552.E95

Dewey Class. No.: 572.6

The extracellular matrix in genetic skeletal disorders
LDR:03269nam a2200337 a 4500 001 1153527
003 DE-He213
005 20241220115626.0
006 m d
007 cr nn 008maaau
008 250619s2024 sz s 0 eng d
020 $a 9783031708350 $q (electronic bk.)
020 $a 9783031708343 $q (paper)
024 7 $a 10.1007/978-3-031-70835-0 $2 doi
035 $a 978-3-031-70835-0
040 $a GP $c GP
041 0 $a eng
050 4 $a QP552.E95
072 7 $a PSF $2 bicssc
072 7 $a SCI017000 $2 bisacsh
072 7 $a PSF $2 thema
082 0 4 $a 572.6 $2 23
090 $a QP552.E95 $b E96 2024
245 0 4 $a The extracellular matrix in genetic skeletal disorders $h [electronic resource] / $c edited by Antonio Rossi, Frank Zaucke.
260 $a Cham : $c 2024. $b Springer Nature Switzerland : $b Imprint: Springer,
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.
650 0 $a Extracellular matrix proteins. $3 812300
650 0 $a Musculoskeletal system $x Diseases $x Genetic aspects. $3 1480961
650 1 4 $a Cell Biology. $3 593889
650 2 4 $a Musculoskeletal system. $3 595675
650 2 4 $a Medical Biochemistry. $3 668897
650 2 4 $a Mechanisms of Disease. $3 1393494
700 1 $a Rossi, Antonio. $3 1480959
700 1 $a Zaucke, Frank. $3 1480960
710 2 $a SpringerLink (Online service) $3 593884
773 0 $t Springer Nature eBook
830 0 $a Biology of extracellular matrix ; $v v. 14. $3 1414668
856 4 0 $u https://doi.org/10.1007/978-3-031-70835-0
950 $a Biomedical and Life Sciences (SpringerNature-11642)