TAILIEUCHUNG - Ebook Elsevier's integrated review genetics (2nd edition): Part 2

(BQ) Part 2 book "Elsevier's integrated review genetics" presents the following contents: Musculoskeletal disorders, neurologic diseases, cardiopulmonary disorders, renal, gastrointestinal and hepatic disorders, disorders of sexual differentiation and development, population genetics and medicine, modern molecular medicine. | Musculoskeletal Disorders 7 CONTENTS CONNECTIVE TISSUE AND BONE DISEASES Extracellular Matrix and Connective Tissue Collagen Collagen Genes Disorders of Connective Tissues Differential Considerations MUSCULOSKELETAL DISEASE DUE TO GROWTH FACTOR RECEPTOR DEFECT Achondroplasia MUSCLE CELL DISEASES Muscular Dystrophies Molecular Basis and Genetics of Duchenne and Becker Types of Muscular Dystrophy Mitochondrial Myopathies Myoclonic Epilepsy with Ragged Red Fiber Syndrome Chronic Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome shape plasticity and partitioning. The ECM is composed of three associated macromolecules 1 fibrous structural proteins such as collagen and elastin 2 glycoproteins and 3 proteoglycans and hyaluronic acid. Typically the ECM forms either basement membrane or interstitial matrix and in doing so performs several functions including retaining water minerals and nutrients as well as acting as the substrate for cell-cell contact migration and adherence. Connective tissues have an extensive ECM that serves to bridge interconnect and support a variety of cellular and organ structures. These structures are typically composed of cells blood vessels and a particular type of ECM. For example skin fibroblasts and blood vessels are interwoven within an extracellular matrix that is an amalgam of structural proteins proteoglycans and adhesion molecules. Other types of connective tissue include tendon and cartilage. Here the discussion of connective tissues focuses on skin connective tissue since much is known about the structure and function of this anatomic element and many well-characterized connective tissue diseases are localized to the skin. Central to any discussion of skin connective tissue is collagen. In this chapter the most common forms of a heterogeneous group of inherited musculoskeletal diseases are highlighted. Musculoskeletal disorders have many etiologic origins including connective tissue extracellular matrix deficiencies such as

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• Elseviers integrated review genetics
• Integrated review genetics
• Musculoskeletal disorders
• Neurologic diseases
• Cardiopulmonary disorders
• Population genetics
• Modern molecular medicine
• Basic mechanisms
• Chromosomes in the cell
• Mechanisms of inheritance
• Hematologic genetics