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The Extracellular Matrix In Genetic Skeletal Disorders
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Book Synopsis The Extracellular Matrix in Genetic Skeletal Disorders by : Antonio Rossi
Download or read book The Extracellular Matrix in Genetic Skeletal Disorders written by Antonio Rossi and published by Springer. This book was released on 2024-11-10 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: 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.
Download or read book Molecular Biology of the Cell written by and published by . This book was released on 2002 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt:
Book Synopsis Connective Tissue and Its Heritable Disorders by : Peter M. Royce
Download or read book Connective Tissue and Its Heritable Disorders written by Peter M. Royce and published by John Wiley & Sons. This book was released on 2003-04-14 with total page 1201 pages. Available in PDF, EPUB and Kindle. Book excerpt: The Second Edition of Connective Tissue and Its Heritable Disorders: Molecular, Genetic, and Medical Aspects is the definitive reference text in its field, with over 40% more pages on the nature, diagnosis, and treatment of disease than its predecessor. Collecting new research on disorders detailed in the first edition as well as on those previously excluded, editors Peter Royce and Beat Steinmann provide the most up-to-date clinical and scientific information for medical specialists treating affected individuals. Features of this revised and updated volume include detailed reviews of the clinical diagnosis, mode of inheritance, risk of recurrence, and prenatal diagnosis of each inherited connective tissue disorder; a thorough description of the morphology of connective tissues; a completely updated and revised section on the biology of the extracellular matrix; and the addition of syndromes such as craniosyntosis, and disorders of sulfate metabolism.
Book Synopsis Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders by : Marina Colombi
Download or read book Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders written by Marina Colombi and published by MDPI. This book was released on 2020-12-14 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ehlers–Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap, including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. The clinical recognition of EDS is not always straightforward, and, for a definite diagnosis, molecular testing can be of great assistance, especially in patients with an uncertain phenotype. Currently, the major challenging task in EDS is to unravel the molecular basis of the hypermobile EDS that is the most frequent form, and for which the diagnosis is only clinical in the absence of any definite laboratory test. This EDS subtype, as well as other EDS-reminiscent phenotypes, are currently investigated worldwide to unravel the primary genetic defect and related pathomechanisms. The research articles, case report, and reviews published in the Special Issue entitled “Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders” focus on different clinical, genetic and molecular aspects of several EDS subtypes and some related disorders, offering novel findings and future research and nosological perspectives.
Book Synopsis Bone Dysplasias by : Jürgen W. Spranger
Download or read book Bone Dysplasias written by Jürgen W. Spranger and published by Oxford University Press, USA. This book was released on 2018 with total page 929 pages. Available in PDF, EPUB and Kindle. Book excerpt: The definitive guide to genetic bone disorders, now revised and expanded with glossy photographs and radiographs "Brilliantly written and produced and deserves to be on the shelves of all pediatric radiologists. It should also be available to geneticists, counselors, and pediatricians." --Radiology This updated and expanded fourth edition of Bone Dysplasias presents age-related radiographs, photographs and clinical guidelines for more than 250 rare constitutional skeletal diseases. Focusing on diagnostically essential imaging and clinical features, each chapter is supplemented with prognostic and therapeutic information, a guide to differential diagnoses, and a short list of the most relevant publications. Organized in accordance with the most recent International Nosology and Classification of Genetic Skeletal Disorders, this new Bone Dysplasias distills the insights of a small, world-class author team on diagnosis and clinical approaches to this most difficult class of disorders.
Book Synopsis Pathology of Bone and Joint Disorders Print and Online Bundle by : Edward F. McCarthy
Download or read book Pathology of Bone and Joint Disorders Print and Online Bundle written by Edward F. McCarthy and published by Cambridge University Press. This book was released on 2014-11-20 with total page 385 pages. Available in PDF, EPUB and Kindle. Book excerpt: Fully updated new edition covering all aspects of bone and joint diseases in one easily readable volume. Color illustrations throughout.
Book Synopsis Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders by : Marina Colombi
Download or read book Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders written by Marina Colombi and published by . This book was released on 2020 with total page 218 pages. Available in PDF, EPUB and Kindle. Book excerpt: Ehlers-Danlos syndromes (EDS) are a group of heritable connective tissue disorders (HCTDs) characterized by a variable degree of skin hyperextensibility, joint hypermobility and tissue fragility. The current EDS classification distinguishes 13 subtypes and 19 different causal genes mainly involved in collagen and extracellular matrix synthesis and maintenance. EDS need to be differentiated from other HCTDs with a variable clinical overlap, including Marfan syndrome and related disorders, some types of skeletal dysplasia and cutis laxa. The clinical recognition of EDS is not always straightforward, and, for a definite diagnosis, molecular testing can be of great assistance, especially in patients with an uncertain phenotype. Currently, the major challenging task in EDS is to unravel the molecular basis of the hypermobile EDS that is the most frequent form, and for which the diagnosis is only clinical in the absence of any definite laboratory test. This EDS subtype, as well as other EDS-reminiscent phenotypes, are currently investigated worldwide to unravel the primary genetic defect and related pathomechanisms. The research articles, case report, and reviews published in the Special Issue entitled “Molecular Genetics and Pathogenesis of Ehlers-Danlos Syndrome and Related Connective Tissue Disorders” focus on different clinical, genetic and molecular aspects of several EDS subtypes and some related disorders, offering novel findings and future research and nosological perspectives.
Book Synopsis Osteogenesis Imperfecta by : Javaid Kassim
Download or read book Osteogenesis Imperfecta written by Javaid Kassim and published by Academic Press. This book was released on 2013-08-06 with total page 578 pages. Available in PDF, EPUB and Kindle. Book excerpt: Osteogenesis Imperfecta is the first translational reference professionals can turn to for a source of comprehensive information on this disorder. Although several reviews of the field have been published in various journals, there is no other single source for a compendium of current information. Separate chapters discuss each of the several clinical features of OI. Ethical issues related to OI are discussed, as is the importance of nutrition in managing the OI child and the OI adult. The role of physical medicine and rehabilitation for OI patients is also presented, along with the current status of OI medical treatment and the prospects for genetic engineering in the future. The text also provides the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI. - Incorporates chapters and information on the ethical issues related to osteogenesis imperfecta (OI) as will the importance of nutrition in managing the OI child and the OI adult - Offers new insights into the underlying mechanisms of collagen biochemistry as related to OI as well as a presentation of intracellular collagen processing and the expanded role of protein chaperones in OI - Discusses the role of physical medicine and rehabilitation for OI patients and the current status of OI medical treatment as well as prospects for genetic engineering in the future - Provides a unique overview for the orthopedic surgeon with an advanced discussion of surgical techniques applicable to OI
Book Synopsis Proteoglycans in Stem Cells by : Martin Götte
Download or read book Proteoglycans in Stem Cells written by Martin Götte and published by Springer Nature. This book was released on 2021-06-07 with total page 314 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a state-of-the-art compendium on the role of proteoglycans and glycosaminoglycans during development and in cancer. It also suggests directions for novel therapeutic and biotechnological applications in stem cell biology. Proteoglycans and glycosaminoglycans, as part of the extracellular matrix, are multifunctional modulators of growth factor, cytokine, integrin and morphogen signaling, which determine both self-renewal, senescence and/or differentiation of stem cells during development. Since proteoglycans modulate cell adhesion and migration they are important organizers of the extracellular matrix within the proper stem cell niche. A malfunctioning of proteoglycans and glycosaminoglycans contributes to the cancer stem cell phenotype, which is linked to therapeutic resistance and recurrence in malignant disease. This book is essential reading for anyone interested in the extracellular matrix and its role in development. The series Biology of Extracellular Matrix is published in collaboration with the American Society for Matrix Biology.
Book Synopsis The Collagen Superfamily and Collagenopathies by : Florence Ruggiero
Download or read book The Collagen Superfamily and Collagenopathies written by Florence Ruggiero and published by Springer Nature. This book was released on 2021-05-15 with total page 343 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book aims at providing insights into the collagen superfamily and the remarkable diversity of collagen function within the extracellular matrix. Additionally, the mechanisms underlying collagen-related diseases such as dystrophic epidermolysis bullosa, osteogenesis imperfecta, as well as collagen-related myopathies and neurological disorders are discussed. Collagens are the most abundant extracellular matrix proteins in organisms. Their primary function is to provide structural support and strength to cells and to maintain biomechanical integrity of tissues. However, collagens can no longer be considered just as structural proteins. They can act as extracellular modulators of signaling events and serve critical regulatory roles in various cell functions during embryonic development and adult homeostasis. Furthermore, collagens are associated with a broad spectrum of heritability-related diseases known as “collagenopathies” that affect a multitude of organs and tissues including sensorial organs. The book is a useful introduction to the field for junior scientists, interested in extracellular matrix research. It is also an interesting read for advanced scientists and clinicians working on collagens and collagenopathies, giving them a broader view of the field beyond their area of specialization.
Book Synopsis Extracellular Matrix in Development by : Douglas W. DeSimone
Download or read book Extracellular Matrix in Development written by Douglas W. DeSimone and published by Springer Science & Business Media. This book was released on 2013-03-15 with total page 260 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cells in the developing embryo depend on signals from the extracellular environment to help guide their differentiation. An important mediator in this process is the extracellular matrix – secreted macromolecules that interact to form large protein networks outside the cell. During development, the extracellular matrix serves to separate adjacent cell groups, participates in establishing morphogenic gradients, and, through its ability to interact directly will cell-surface receptors, provides developmental clocks and positional information. This volume discusses how the extracellular matrix influences fundamental developmental processes and how model systems can be used to elucidate ECM function. The topics addressed range from how ECM influences early development as well as repair processes in the adult that recapitulate developmental pathways.
Book Synopsis Composition and Function of the Extracellular Matrix in the Human Body by : Francesco Travascio
Download or read book Composition and Function of the Extracellular Matrix in the Human Body written by Francesco Travascio and published by BoD – Books on Demand. This book was released on 2016-06-15 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: The extracellular matrix (ECM) is an ensemble of non-cellular components present within all tissues and organs of the human body. The ECM provides structural support for scaffolding cellular constituents and biochemical and biomechanical support for those events leading to tissue morphogenesis, differentiation and homeostasis. Essential components of all ECMs are water, proteins and polysaccharides. However, their composition, architecture and bioactivity greatly vary from tissue to tissue in relation to the specific role the ECM is required to assume. This book overviews the role of the ECM in different tissues and organs of the human body.
Book Synopsis The Extracellular Matrix: an Overview by : Robert Mecham
Download or read book The Extracellular Matrix: an Overview written by Robert Mecham and published by Springer Science & Business Media. This book was released on 2011-02-16 with total page 429 pages. Available in PDF, EPUB and Kindle. Book excerpt: Knowledge of the extracellular matrix (ECM) is essential to understand cellular differentiation, tissue development, and tissue remodeling. This volume of the series “Biology of Extracellular Matrix” provides a timely overview of the structure, regulation, and function of the major macromolecules that make up the extracellular matrix. It covers topics such as collagen types and assembly of collagen-containing suprastructures, basement membrane, fibronectin and other cell-adhesive glycoproteins, proteoglycans, microfibrils, elastin, fibulins and matricellular proteins, such as thrombospondin. It also explores the concept that ECM components together with their cell surface receptors can be viewed as intricate nano-devices that allow cells to physically organize their 3-D-environment. Further, the role of the ECM in human disease and pathogenesis is discussed as well as the use of model organisms in elucidating ECM function.
Book Synopsis Extracellular Matrix Omics by : Sylvie Ricard-Blum
Download or read book Extracellular Matrix Omics written by Sylvie Ricard-Blum and published by Springer. This book was released on 2021-12-17 with total page 225 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book covers different omics aspects related to the extracellular matrix (ECM), namely specific omics resources focused on the extracellular matrix (e.g., databases, repositories and atlases), quantitative proteomics applied to specific extracellular matrices (e.g. basement membranes), biological processes such as ECM degradation (degradomics), cell-matrix interactions (adhesomes), signaling pathways, biomarker discovery and diseases, and interactomics (extracellular matrix interaction networks including not only protein-protein but also protein-glycosaminoglycan interactions). The volume also includes recent advances in glycomics and glycobioinformatics applied to proteoglycans and glycosaminoglycans, which are key biological players. The use of omics data to build dynamic models of ECM-regulated biological pathways is addressed, together with the requirement to standardize omic data, which is a prerequisite for the FAIR (Findability, Accessibility, Interoperability, and Reusability) guiding principles for scientific data management. This book will be of great interest to a broad readership from beginners to advanced researchers, who are interested in extracellular matrix omics and will inspire future research topics.
Book Synopsis Orthopedic Surgery Clerkship by : Adam E. M. Eltorai
Download or read book Orthopedic Surgery Clerkship written by Adam E. M. Eltorai and published by Springer. This book was released on 2017-08-09 with total page 753 pages. Available in PDF, EPUB and Kindle. Book excerpt: This quick-reference guide is the first book written specifically for the many third- and fourth-year medical students rotating on an orthopedic surgery service. Organized anatomically, it focuses on the diagnosis and management of the most common pathologic entities. Each chapter covers history, physical examination, imaging, and common diagnoses. For each diagnosis, the book sets out the typical presentation, options for non-operative and operative management, and expected outcomes. Chapters include key illustrations, quick-reference charts, tables, diagrams, and bulleted lists. Each chapter is co-authored by a senior resident or fellow and an established academic physician and is concise enough to be read in two or three hours. Students can read the text from cover to cover to gain a general foundation of knowledge that can be built upon when they begin their rotation, then use specific chapters to review a sub-specialty before starting a new rotation or seeing a patient with a sub-specialty attending. Practical and user-friendly, Orthopedic Surgery Clerkship is the ideal, on-the-spot resource for medical students and practitioners seeking fast facts on diagnosis and management. Its bullet-pointed outline format makes it a perfect quick-reference, and its content breadth covers the most commonly encountered orthopedic problems in practice.
Book Synopsis Extracellular Matrix in Development and Disease by : Julia Thom Oxford
Download or read book Extracellular Matrix in Development and Disease written by Julia Thom Oxford and published by MDPI. This book was released on 2019-02-21 with total page 357 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book is a printed edition of the Special Issue "Extracellular Matrix in Development and Disease" that was published in IJMS
Book Synopsis Cartilage Molecular Aspects by : Brian K. Hall
Download or read book Cartilage Molecular Aspects written by Brian K. Hall and published by CRC Press. This book was released on 1991-06-18 with total page 280 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cartilage plays diverse roles as a definitive supporting tissue in some organs, the basis of low friction surfaces in joints, and a transient morphogenetic template during embryogenesis and repair of the skeleton. The versatility of cartilage is derived from the remarkable material properties of its extracellular matrix, the wide spectrum of regulatory systems that influence the synthesis and degradation of the unique molecular constituents of this matrix, and the development and growth of the cells that produce it. This book touches on each of these areas and provides the first comprehensive reviews of the molecular biology of the genes specifying the collagenous and noncollagenous proteins of the cartilage matrix, as well as the biophysical-chemical properties of the matrix that suits it to the various functions it performs. Up-to-date critical reviews of the mineralization and degradation of cartilage matrix, the roles of polypeptide growth and inducing factors, of ions, in the regulation of cartilage growth and development, and the unique requirements of the energy metabolism of cartilage as a nonvascular tissue, make this volume a useful source for concepts and results for the multiple disciplines that play a part in modern cartilage research.
