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

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

Musculoskeletal Disorders 7CONTENTSCONNECTIVE TISSUE AND BONE DISEASESExtracellular Matrix and Connective TissueCollagenCollagen GenesDisorders of Con

Ebook Elsevier''s integrated review genetics (2nd edition): Part 2nnective TissuesDifferential ConsiderationsMUSCULOSKELETAL DISEASE DUE TO GROWTHFACTOR RECEPTOR DEFECTAchondroplasiaMUSCLE CELL DISEASESMuscular Dystr

ophiesMolecular Basis and Genetics of Duchenne and BeckerTypes of Muscular DystrophyMitochondrial MyopathiesMyoclonic Epilepsy with Ragged Red Fiber S Ebook Elsevier''s integrated review genetics (2nd edition): Part 2

yndromeChronic Progressive External Ophthalmoplegia andKearns-Sayre Syndromeshape, plasticity, and partitioning. The ECM is composed of three associat

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

ed macromolecules: (1) fibrous structural proteins such as collagen and elastin, (2) glycoproteins, and (3) proteoglycans and hyaluronic acid. Typical

Musculoskeletal Disorders 7CONTENTSCONNECTIVE TISSUE AND BONE DISEASESExtracellular Matrix and Connective TissueCollagenCollagen GenesDisorders of Con

Ebook Elsevier''s integrated review genetics (2nd edition): Part 2nd nutrients as well as acting as the substrate for cell-cell contact, migration, and adherence.Connective tissues have an extensive ECM that serves t

o bridge, interconnect, and support a variety of cellular and oigan structures. These structures are typically composed of cells, blood vessels, and a Ebook Elsevier''s integrated review genetics (2nd edition): Part 2

particular type of ECM. For example, skin, fibroblasts and blood vessels are interwoven within an extracellular matrix that is an amalgam of structur

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

al proteins, proteoglycans, and adhesion molecules. Other types of connective tissue include tendon and cartilage. Here, the discussion of connective

Musculoskeletal Disorders 7CONTENTSCONNECTIVE TISSUE AND BONE DISEASESExtracellular Matrix and Connective TissueCollagenCollagen GenesDisorders of Con

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

connective tissue/extracellular matrix deficiencies such as osteogenesis imperfecta, Ehlere-Danlos syndrome,and Marfan syndrome; faulty growth factor

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

biology as seen in achondroplasia; and both structural and metabolic muscle cell abnormalities represented by Becker and Duchenne muscular dystrophie

Musculoskeletal Disorders 7CONTENTSCONNECTIVE TISSUE AND BONE DISEASESExtracellular Matrix and Connective TissueCollagenCollagen GenesDisorders of Con

Ebook Elsevier''s integrated review genetics (2nd edition): Part 2 significant proportion of human disease.•• CONNECTIVE TISSUE AND BONE DISEASESExtracellular Matrix and Connective TissueThe extracellular matrix (ECM

) is found in the spaces between cells, forming a large proportion of tissue volume. It is also found between organs and as such contributes to the bo Ebook Elsevier''s integrated review genetics (2nd edition): Part 2

dy’sBIOCHEMISTRYExtracellular Matrix (ECM)The extracellular matrix occupies the intercellular spaces. It is most abundant in connective tissues such a

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

s the basement membrane, bone, tendon, and cartilage, where definition is grven to the ECM by the proportions and organization of various components.

Musculoskeletal Disorders 7CONTENTSCONNECTIVE TISSUE AND BONE DISEASESExtracellular Matrix and Connective TissueCollagenCollagen GenesDisorders of Con

Ebook Elsevier''s integrated review genetics (2nd edition): Part 2ength and incompressibility.Integrins are a family of heterodimeric proteins composed of« and p subunits that are the main cellular receptors for the

ECM. Integnns have several distinctive features from other adhesion proteins They interact with an arginineglycine-aspartic acid (RGD) motif of ECM pr Ebook Elsevier''s integrated review genetics (2nd edition): Part 2

oteins. Integrins link the intracellular cytoskeleton with the ECM through this RGD motif. Without this attachment, cells normally undergo apoptosis I

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

ntegrins can bind to more than one ligand and many ligands can bind to more than one integrin. Examples of integrins include fibronectin receptors and

Musculoskeletal Disorders 7CONTENTSCONNECTIVE TISSUE AND BONE DISEASESExtracellular Matrix and Connective TissueCollagenCollagen GenesDisorders of Con

Ebook Elsevier''s integrated review genetics (2nd edition): Part 2sue as well as the characteristics of the ground substance.Connective tissue (CT) proper consists of loose connective tissue (areolar tissue) and dens

e connective tissue, which has more and larger fibers than loose CT. Dense connective tissue can be either irregular, in which the fibers are usually Ebook Elsevier''s integrated review genetics (2nd edition): Part 2

arranged more or less haphazardly, or regular, in which the fibers are arranged in parallel sheets or bundles.Specialized CT is distinct in either str

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

ucture or function from CT proper Examples are adipose tissue, blood, bone, cartilage, hematopoietic tissues, and lymphatic tissuesEmbryonic CT encomp

Musculoskeletal Disorders 7CONTENTSCONNECTIVE TISSUE AND BONE DISEASESExtracellular Matrix and Connective TissueCollagenCollagen GenesDisorders of Con

Musculoskeletal Disorders 7CONTENTSCONNECTIVE TISSUE AND BONE DISEASESExtracellular Matrix and Connective TissueCollagenCollagen GenesDisorders of Con

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