000 04359nam a22005775i 4500
001 978-3-031-70835-0
003 DE-He213
005 20251030114629.0
007 cr nn 008mamaa
008 241220s2024 sz | s |||| 0|eng d
020 _a9783031708350
_9978-3-031-70835-0
024 7 _a10.1007/978-3-031-70835-0
_2doi
050 4 _aQH573-671
072 7 _aPSF
_2bicssc
072 7 _aSCI017000
_2bisacsh
072 7 _aPSF
_2thema
245 1 4 _aThe Extracellular Matrix in Genetic Skeletal Disorders
_h[electronic resource] /
_cedited by Antonio Rossi, Frank Zaucke.
250 _a1st ed. 2024.
264 1 _aCham :
_bSpringer Nature Switzerland :
_bImprint: Springer,
_c2024.
300 _aX, 410 p. 31 illus., 29 illus. in color.
_bonline resource.
336 _atext
_btxt
_2rdacontent
337 _acomputer
_bc
_2rdamedia
338 _aonline resource
_bcr
_2rdacarrier
347 _atext file
_bPDF
_2rda
490 1 _aBiology of Extracellular Matrix,
_x2191-1959 ;
_v16
505 0 _aPart 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 _aThis 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 _aCytology.
_967436
650 0 _aMusculoskeletal system.
_980061
650 0 _aClinical biochemistry.
_967825
650 0 _aDiseases.
_968840
650 1 4 _aCell Biology.
_967440
650 2 4 _aMusculoskeletal system.
_980061
650 2 4 _aMedical Biochemistry.
_967828
650 2 4 _aMechanisms of Disease.
_981824
700 1 _aRossi, Antonio.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
_989238
700 1 _aZaucke, Frank.
_eeditor.
_4edt
_4http://id.loc.gov/vocabulary/relators/edt
_989239
710 2 _aSpringerLink (Online service)
773 0 _tSpringer Nature eBook
776 0 8 _iPrinted edition:
_z9783031708343
776 0 8 _iPrinted edition:
_z9783031708367
776 0 8 _iPrinted edition:
_z9783031708374
830 0 _aBiology of Extracellular Matrix,
_x2191-1959 ;
_v16
_987072
856 4 0 _uhttps://doi.org/10.1007/978-3-031-70835-0
912 _aZDB-2-SBL
912 _aZDB-2-SXB
999 _c65877
_d65877