The Collagen Superfamily and Collagenopathies

The Collagen Superfamily and Collagenopathies PDF Author: Florence Ruggiero
Publisher: Springer Nature
ISBN: 3030675920
Category : Science
Languages : en
Pages : 343

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Book Description
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.

Ehlers-Danlos Syndrome: A Multidisciplinary Approach

Ehlers-Danlos Syndrome: A Multidisciplinary Approach PDF Author: J.W.G. Jacobs
Publisher: IOS Press
ISBN: 1614998787
Category : Medical
Languages : en
Pages : 370

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Book Description
Generalized hypermobility has been known since ancient times, and a clinical description of Ehlers-Danlos syndrome (EDS) is said to have first been recorded by Hippocrates in 400 BC. Hypermobility syndromes occur frequently, but the wide spectrum of possible symptoms, coupled with a relative lack of awareness and recognition, are the reason that they are frequently not recognized, or remain undiagnosed. This book is an international, multidisciplinary guide to hypermobility syndromes, and EDS in particular. It aims to create better awareness of hypermobility syndromes among health professionals, including medical specialists, and to be a guide to the management of such syndromes for patients and practitioners. It is intended for use in daily clinical practice rather than as a reference book for research or the latest developments, and has been written to be understandable for any healthcare worker or educated patient without compromise to the scientific content. The book is organized as follows: chapters on classifications and genetics are followed by chapters on individual types, organ (system) manifestations and complications, and finally ethics and therapeutic strategies, with an appendix on surgery and the precautions which should attend it. A special effort has been made to take account of the perspective of the patient; two of the editors have EDS. The book will be of interest to patients with hypermobility syndromes and their families, as well as to all those healthcare practitioners who may encounter such syndromes in the course of their work.

Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders

Molecular Genetics and Pathogenesis of Ehlers–Danlos Syndrome and Related Connective Tissue Disorders PDF Author: Marina Colombi
Publisher: MDPI
ISBN: 3039363220
Category : Science
Languages : en
Pages : 218

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Book Description
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.

The Extracellular Matrix: an Overview

The Extracellular Matrix: an Overview PDF Author: Robert Mecham
Publisher: Springer Science & Business Media
ISBN: 3642165559
Category : Science
Languages : pt
Pages : 426

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Book Description
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.

Osteoarthritis

Osteoarthritis PDF Author: J.-Y. Reginster
Publisher: Springer Science & Business Media
ISBN: 3642600263
Category : Medical
Languages : en
Pages : 509

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Book Description
Musculoskeletal diseases are rapidly becoming a major health concern. The incidence of osteoarthritis, the most common arthritic disorder, is increasing steadily due to the graying of the world population. This disease is responsible of human life, a time in for significant morbidity, particularly in the second half which the quality of life is of primary importance. The aim of this publication is to bring to physicians and scientists a comprehensive overview of the field, from molecules to men. The direct costs related to osteoarthritis have been increasing steadily over the years and will soon be comparable to those of other major illnesses, such as cardiovascular diseases. This, of course, does not take into account all of the other costs related to the disease which often cannot be simply calculated in dollars and cents. There has been a great deal of renewed interest in osteoarthritis in the last few decades. This has been brought on by the need to improve our knowledge of all aspects of the disease, especially with regard to its etiopathogenesis and treatment. The most recent findings and developments on the structural, bio chemical, biomechanical and molecular changes observed in clinical and ex perimental osteoarthritis are presented in this book.

Peptides and Proteins as Biomaterials for Tissue Regeneration and Repair

Peptides and Proteins as Biomaterials for Tissue Regeneration and Repair PDF Author: Mario Barbosa
Publisher: Woodhead Publishing
ISBN: 008100852X
Category : Technology & Engineering
Languages : en
Pages : 390

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Book Description
Peptides and Proteins as Biomaterials for Tissue Regeneration and Repair highlights the various important considerations that go into biomaterial development, both in terms of fundamentals and applications. After covering a general introduction to protein and cell interactions with biomaterials, the book discusses proteins in biomaterials that mimic the extracellular matrix (ECM). The properties, fabrication and application of peptide biomaterials and protein-based biomaterials are discussed in addition to in vivo and in vitro studies. This book is a valuable resource for researchers, scientists and advanced students interested in biomaterials science, chemistry, molecular biology and nanotechnology. Presents an all-inclusive and authoritative coverage of the important role which protein and peptides play as biomaterials for tissue regeneration Explores protein and peptides from the fundamentals, to processing and applications Written by an international group of leading biomaterials researchers

Osteoarthritis

Osteoarthritis PDF Author: Roland W. Moskowitz
Publisher: Lippincott Williams & Wilkins
ISBN: 9780781767071
Category : Medical
Languages : en
Pages : 492

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Book Description
Written by the foremost experts, this text is a comprehensive clinical reference on osteoarthritis. Chapters review current information on the epidemiology, etiopathogenesis, and pathology of osteoarthritis, the biochemistry and molecular and cell biology of articular cartilage, and experimental models of osteoarthritis. Major sections focus on clinical presentations, roentgenologic and laboratory diagnosis, and treatment, including pharmacologic treatment, intra-articular therapy, surgery, arthroscopy, and complementary and alternative medicine. The authors discuss the indications, outcomes, and complications of various orthopaedic procedures. Chapters present orthopaedic approaches to osteoarthritis of various joints—the shoulder, hand, wrist, elbow, hip, knee, foot, ankle, and cervical, thoracic, and lumbar spine.

Cellular Mechanics and Biophysics

Cellular Mechanics and Biophysics PDF Author: Claudia Tanja Mierke
Publisher: Springer Nature
ISBN: 3030585328
Category : Science
Languages : en
Pages : 919

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Book Description
This book focuses on the mechanical properties of cells, discussing the basic concepts and processes in the fields of immunology, biology, and biochemistry. It introduces and explains state-of-the-art biophysical methods and examines the role of mechanical properties in the cell/protein interaction with the connective tissue microenvironment. The book presents a unique perspective on cellular mechanics and biophysics by combining the mechanical, biological, physical, biochemical, medical, and immunological views, highlighting the importance of the mechanical properties of cells and biophysical measurement methods. The book guides readers through the complex and growing field of cellular mechanics and biophysics, connecting and discussing research findings from different fields such as biology, cell biology, immunology, physics, and medicine. Featuring suggestions for further reading throughout and addressing a wide selection of biophysical topics, this book is an indispensable guide for graduate and advanced undergraduate students in the fields of cellular mechanics and biophysics.

Aneurysms-Osteoarthritis Syndrome

Aneurysms-Osteoarthritis Syndrome PDF Author: Denise van der Linde
Publisher: Elsevier
ISBN: 0128027118
Category : Medical
Languages : en
Pages : 178

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Book Description
Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease. Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care Contains clinical management guidance on optimal cardiovascular treatments and surgery Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features

Evolution of Extracellular Matrix

Evolution of Extracellular Matrix PDF Author: Fred W. Keeley
Publisher: Springer Science & Business Media
ISBN: 3642360025
Category : Science
Languages : en
Pages : 297

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Book Description
The evolution of single cells into multicellular organisms was mediated, in large part, by the extracellular matrix. The proteins and glycoconjugates that make up the extracellular matrix provide structural support to cellular complexes, facilitate cell adhesion and migration, and impart mechanical properties that are important for tissue function. Each class of ECM macromolecule has evolved to incorporate distinctive properties that are defined by conserved modules that are mixed together to achieve appropriate function. This volume provides a comprehensive analysis of how the major ECM components evolved over time in order to fill their specific roles found in modern organisms. The major focus is on the structural matrix proteins, matricellular proteins, and more complex ECM structures such as basement membranes. Adhesive proteins and their receptors are also discussed.