PROGRESS IN HERITABLE SOFT CONNECTIVE TISSUE DISEASES PDF
Preview PROGRESS IN HERITABLE SOFT CONNECTIVE TISSUE DISEASES
Advances in Experimental Medicine and Biology 1348 Jaroslava Halper Editor Progress in Heritable Soft Connective Tissue Diseases Second Edition Advances in Experimental Medicine and Biology Volume 1348 Series Editors Wim E. Crusio, Institut de Neurosciences Cognitives et Intégratives d’Aquitaine, CNRS and University of Bordeaux, Pessac Cedex, France Haidong Dong, Departments of Urology and Immunology, Mayo Clinic Rochester, MN, USA Heinfried H. Radeke, Institute of Pharmacology & Toxicology, Clinic of the Goethe University Frankfurt Main, Frankfurt am Main, Hessen, Germany Nima Rezaei, Research Center for Immunodeficiencies, Children’s Medical Center, Tehran University of Medical Sciences, Tehran, Iran Ortrud Steinlein, Institute of Human Genetics, LMU University Hospital, Munich, Germany Junjie Xiao, Cardiac Regeneration and Ageing Lab, Institute of Cardiovascular Science, School of Life Science, Shanghai University, Shanghai, China Advances in Experimental Medicine and Biology provides a platform for scientific contributions in the main disciplines of the biomedicine and the life sciences. This series publishes thematic volumes on contemporary research in the areas of microbiology, immunology, neurosciences, biochemistry, biomedical engineering, genetics, physiology, and cancer research. Covering emerging topics and techniques in basic and clinical science, it brings together clinicians and researchers from various fields. Advances in Experimental Medicine and Biology has been publishing exceptional works in the field for over 40 years, and is indexed in SCOPUS, Medline (PubMed), Journal Citation Reports/Science Edition, Science Citation Index Expanded (SciSearch, Web of Science), EMBASE, BIOSIS, Reaxys, EMBiology, the Chemical Abstracts Service (CAS), and Pathway Studio. 2020 Impact Factor: 2.622 More information about this series at https://link.springer.com/bookseries/5584 Jaroslava Halper Editor Progress in Heritable Soft Connective Tissue Diseases Second Edition Editor Jaroslava Halper Department of Pathology, College of Veterinary Medicine, and Department of Basic Sciences, AU/UGA Medical Partnership The University of Georgia Athens, GA, USA ISSN 0065-2598 ISSN 2214-8019 (electronic) Advances in Experimental Medicine and Biology ISBN 978-3-030-80613-2 ISBN 978-3-030-80614-9 (eBook) https://doi.org/10.1007/978-3-030-80614-9 © Springer Nature Switzerland AG 2021 This work is subject to copyright. All rights are reserved by the Publisher, whether the whole or part of the material is concerned, specifically the rights of translation, reprinting, reuse of illustrations, recitation, broadcasting, reproduction on microfilms or in any other physical way, and transmission or information storage and retrieval, electronic adaptation, computer software, or by similar or dissimilar methodology now known or hereafter developed. The use of general descriptive names, registered names, trademarks, service marks, etc. in this publication does not imply, even in the absence of a specific statement, that such names are exempt from the relevant protective laws and regulations and therefore free for general use. The publisher, the authors, and the editors are safe to assume that the advice and information in this book are believed to be true and accurate at the date of publication. Neither the publisher nor the authors or the editors give a warranty, expressed or implied, with respect to the material contained herein or for any errors or omissions that may have been made. The publisher remains neutral with regard to jurisdictional claims in published maps and institutional affiliations. This Springer imprint is published by the registered company Springer Nature Switzerland AG The registered company address is: Gewerbestrasse 11, 6330 Cham, Switzerland Contents 1 Introduction . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 1 Jaroslava Halper 2 Basic Structure, Physiology, and Biochemistry of Connective Tissues and Extracellular Matrix Collagens . . . 5 Michael J. Mienaltowski, Nicole L. Gonzales, Jessica M. Beall, and Monica Y. Pechanec 3 Tendon Extracellular Matrix Assembly, Maintenance and Dysregulation Throughout Life . . . . . . . . . . . 45 Seyed Mohammad Siadat, Danae E. Zamboulis, Chavaunne T. Thorpe, Jeffrey W. Ruberti, and Brianne K. Connizzo 4 Basic Components of Connective Tissues and Extracellular Matrix: Fibronectin, Fibrinogen, Laminin, Elastin, Fibrillins, Fibulins, Matrilins, Tenascins and Thrombospondins . . . . . . . . . . . . . . . . . . . . . . . . 105 Jaroslava Halper 5 Proteoglycans and Diseases of Soft Tissues . . . . . . . . . . . . . . . . 127 Chloe Taejoo Hwang and Jaroslava Halper 6 Growth Factor Roles in Soft Tissue Physiology and Pathophysiology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 139 Jennifer H. Roberts and Jaroslava Halper 7 Connective Tissue Disorders and Cardiovascular Complications: The Indomitable Role of Transforming Growth Factor-β Signaling . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 161 Jason B. Wheeler, John S. Ikonomidis, and Jeffrey A. Jones 8 Pathophysiology and Pathogenesis of Marfan Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 185 Sanford M. Zeigler, Brandon Sloan, and Jeffrey A. Jones 9 Ehlers-Danlos Syndromes, Joint Hypermobility and Hypermobility Spectrum Disorders . . . . . . . . . . . . . . . . . . . 207 Lucia Micale, Carmela Fusco, and Marco Castori v vi Contents 10 Ehlers Danlos Syndrome with Glycosaminoglycan Abnormalities . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 235 Noriko Miyake, Tomoki Kosho, and Naomichi Matsumoto 11 Loeys-Dietz Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 251 Joe D. Velchev, Lut Van Laer, Ilse Luyckx, Harry Dietz, and Bart Loeys 12 Meester-Loeys Syndrome . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 265 Josephina A. N. Meester, Pauline De Kinderen, Aline Verstraeten, and Bart Loeys 13 Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis . . . . . . . . . . . . . . . . . . 273 Aude Beyens, Lore Pottie, Patrick Sips, and Bert Callewaert 14 Collagen VI Muscle Disorders: Mutation Types, Pathogenic Mechanisms and Approaches to Therapy . . . . . . . . 311 Shireen R. Lamandé 15 Connective Tissue Disorders in Domestic Animals . . . . . . . . . . 325 Jennifer Hope Roberts and Jaroslava Halper Index . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . 337 Editor and Contributors About the Editor Jaroslava Halper, M.D., Ph.D., is Professor of Pathology at The University of Georgia where she is affiliated with the Department of Pathology, College of Veterinary Medicine, and with the Department of Basic Sciences in the Medical Partnership. She is a board-certified anatomic pathologist who received M.D. degree from the Faculty of Medicine, University of Toronto. She trained in pathology at Albert Einstein College of Medicine (in the Bronx, New York) and at Mayo Clinic in Rochester, Minnesota. She obtained her Ph.D. in experimental pathology from the University of Minnesota at Mayo Clinic where she worked on the identification of transforming growth factor e (known better as granulin) with Harold Moses as her major professor. She continued her work on granulins, growth factors, and tissue repair when she first arrived at The University of Georgia. With time, her research interests have evolved into probing basic problems in tendons. More recently, she has conducted groundbreaking research on equine degenerative suspensory liga- ment desmitis (DSLD). Her group has established that DSLD, a chronic pro- gressive disorder, is a systemic condition characterized by inappropriate accumulation of proteoglycans in connective tissues, particularly in tendons and ligaments. Contributors Jessica M. Beall Department of Animal Science, University of California Davis, Davis, CA, USA Aude Beyens Center for Medical Genetics Ghent, Department of Dermatology, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium Bert Callewaert Center for Medical Genetics Ghent, Department of Biomolecular Medicine, Ghent University Hospital, Ghent University, Ghent, Belgium vii viii Editor and Contributors Marco Castori Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy Brianne K. Connizzo Department of Biomedical Engineering, Boston University, Boston, MA, USA Pauline De Kinderen Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium Harry Dietz McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA Carmela Fusco Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy Nicole L. Gonzales Department of Animal Science, University of California Davis, Davis, CA, USA Jaroslava Halper Department of Pathology, College of Veterinary Medicine, and Department of Basic Sciences, AU/UGA Medical Partnership, The University of Georgia, Athens, GA, USA Chloe Taejoo Hwang Department of Pathology, College of Veterinary Medicine, The University of Georgia, Athens, GA, USA John S. Ikonomidis Division of Cardiothoracic Surgery, University of North Carolina, Chapel Hill, NC, USA Jeffrey A. Jones Division of Cardiothoracic Surgery, Medical University of South Carolina and Ralph H. Johnson Veterans Affairs Medical Center, Charleston, SC, USA Tomoki Kosho Department of Medical Genetics, Shinshu University School of Medicine, Matsumoto, Japan Shireen R. Lamandé Murdoch Children’s Research Institute and Department of Paediatrics, University of Melbourne, Royal Children’s Hospital, Parkville, VIC, Australia Bart Loeys Center for Medical Genetics, Antwerp University Hospital/ University of Antwerp, Antwerp, Belgium Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands Ilse Luyckx Center for Medical Genetics, Antwerp University Hospital/ University of Antwerp, Antwerp, Belgium Naomichi Matsumoto Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan Josephina A.N. Meester Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium Lucia Micale Division of Medical Genetics, Fondazione IRCCS-Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy Editor and Contributors ix Michael J. Mienaltowski Department of Animal Science, University of California Davis, Davis, CA, USA Noriko Miyake Department of Human Genetics, National Center for Global Health and Medicine, Tokyo, Japan Monica Y. Pechanec Department of Animal Science, University of California Davis, Davis, CA, USA Lore Pottie Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium Department of Biomolecular Medicine, Ghent University, Ghent, Belgium Jennifer Hope Roberts Department of Pathology, College of Veterinary Medicine, The University of Georgia, Athens, GA, USA Jeffrey W. Ruberti Department of Bioengineering, Northeastern University, Boston, MA, USA Seyed Mohammad Siadat Department of Bioengineering, Northeastern University, Boston, MA, USA Patrick Sips Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium Department of Biomolecular Medicine, Ghent University, Ghent, Belgium Brandon Sloan Division of Cardiothoracic Surgery, Department of Surgery, Medical University of South Carolina, Charleston, SC, USA Chavaunne T. Thorpe Comparative Biomedical Sciences, The Royal Veterinary College, University of London, London, UK Lut Van Laer Center for Medical Genetics, Antwerp University Hospital/ University of Antwerp, Antwerp, Belgium Joe D. Velchev Center for Medical Genetics, Antwerp University Hospital/ University of Antwerp, Antwerp, Belgium Aline Verstraeten Center for Medical Genetics, Antwerp University Hospital/University of Antwerp, Antwerp, Belgium Jason B. Wheeler Division of Cardiology, Cleveland Clinic, Cleveland, OH, USA Danae E. Zamboulis Institute of Life Course and Medical Sciences, Faculty of Health and Life Sciences, University of Liverpool, Liverpool, UK Sanford M. Zeigler Division of Cardiothoracic Surgery, Department of Surgery, Medical University of South Carolina, Charleston, SC, USA
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