LEADER 04506nam 22006735 450 001 9910298314503321 005 20200704011125.0 010 $a94-007-7893-7 024 7 $a10.1007/978-94-007-7893-1 035 $a(CKB)2550000001200678 035 $a(EBL)1698272 035 $a(OCoLC)870711646 035 $a(SSID)ssj0001185969 035 $a(PQKBManifestationID)11766246 035 $a(PQKBTitleCode)TC0001185969 035 $a(PQKBWorkID)11218607 035 $a(PQKB)11048248 035 $a(MiAaPQ)EBC1698272 035 $a(DE-He213)978-94-007-7893-1 035 $a(PPN)17613042X 035 $a(EXLCZ)992550000001200678 100 $a20140117d2014 u| 0 101 0 $aeng 135 $aur|n|---||||| 181 $ctxt 182 $cc 183 $acr 200 10$aProgress in Heritable Soft Connective Tissue Diseases /$fedited by Jaroslava Halper 205 $a1st ed. 2014. 210 1$aDordrecht :$cSpringer Netherlands :$cImprint: Springer,$d2014. 215 $a1 online resource (246 p.) 225 1 $aAdvances in Experimental Medicine and Biology,$x0065-2598 ;$v802 300 $aDescription based upon print version of record. 311 $a94-007-7892-9 320 $aIncludes bibliographical references at the end of each chapters and index. 327 $aStructure, physiology and biochemistry of collagens -- Basic components of connective tissues and extracellular matrix -- Proteoglycans and diseases of soft tissues -- Advances in the use of growth factors for treatment of disorders of soft tissues -- Clinical, diagnostic, and therapeutic aspects of the Marfan syndrome -- Loeys-Dietz syndrome -- Connective Tissue Disorders and Cardiovascular Complications: The indomitable role of Transforming Growth Factor-beta signaling -- The Ehlers-Danlos Syndrome -- Ehlers?Danlos syndrome associated with glycosaminoglycan abnormalities -- Cutis laxa -- Collagen type VI myopathies -- Mouse Models in Tendon and Ligament Research -- Connective tissue disorders in domestic animals. 330 $aThis volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers.  Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder. 410 0$aAdvances in Experimental Medicine and Biology,$x0065-2598 ;$v802 606 $aHuman genetics 606 $aCell physiology 606 $aInternal medicine 606 $aHuman Genetics$3https://scigraph.springernature.com/ontologies/product-market-codes/B12008 606 $aCell Physiology$3https://scigraph.springernature.com/ontologies/product-market-codes/L33010 606 $aInternal Medicine$3https://scigraph.springernature.com/ontologies/product-market-codes/H33002 615 0$aHuman genetics. 615 0$aCell physiology. 615 0$aInternal medicine. 615 14$aHuman Genetics. 615 24$aCell Physiology. 615 24$aInternal Medicine. 676 $a616.77042 702 $aHalper$b Jaroslava$4edt$4http://id.loc.gov/vocabulary/relators/edt 801 0$bMiAaPQ 801 1$bMiAaPQ 801 2$bMiAaPQ 906 $aBOOK 912 $a9910298314503321 996 $aProgress in Heritable Soft Connective Tissue Diseases$92551290 997 $aUNINA