• Anchoring fibrils are thought to form a structural link between the epidermal basement membrane and the fibrillar collagens in the upper dermis. (wikipedia.org)
  • Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene. (medlineplus.gov)
  • Mutations that severely reduce or prevent the production of type VII collagen cause RDEB-sev gen. (medlineplus.gov)
  • This gene provides instructions for making a protein that forms the pieces (subunits) of a larger protein called type VII collagen. (medlineplus.gov)
  • This classification was based on the notion that "collagen" was equivalent to "connective tissue", but with the present recognition of the different types of collagen and the aggregates derived from them as distinct entities, the term "collagen diseases" now pertains exclusively to those inherited conditions in which the primary defect is at the gene level and affects collagen biosynthesis, post-translational modification, or extracellular processing directly. (lookformedical.com)
  • and (3) developing methods for delivery of extracutaneous gene therapy in epidermolysis bullosa. (stanford.edu)
  • Our laboratory focuses on discovery, cloning, sequencing, and creating gene therapy approaches for patients with hereditary forms of epidermolysis bullosa, a serious (potentially lethal) skin disease. (stanford.edu)
  • The skin of DEB patients is thus highly susceptible to severe blistering. (wikipedia.org)
  • citation needed] Collagen VII is also associated with the epithelium of the esophageal lining, and DEB patients may have chronic scarring, webbing, and obstruction of the esophagus. (wikipedia.org)
  • A subset of patients have variations in which either IgG autoantibodies bind the central triple-helical collagenous (NC2) domain of type VII collagen, or immunoglobulin A (IgA), rather than IgG, targets type VII collagen. (medscape.com)
  • One of three types of internal repeat within the plasma protein, fibronectin. (embl.de)
  • Initial studies demonstrated that rabbit antimouse type VII collagen antibodies, as well as rabbit antibodies raised against human recombinant protein type VII collagen, were able to induce blisters in mice. (medscape.com)
  • Induction of an active model of autoimmunity against type VII collagen in a hairless mouse strain (SKH1) revealed that regulatory T cells, which have been identified for their ability to inhibit the development of autoimmune diseases, do not inhibit the development of autoantibodies against the self-protein mouse-type VII collagen. (medscape.com)
  • A family of structurally related collagens that form the characteristic collagen fibril bundles seen in CONNECTIVE TISSUE. (lookformedical.com)
  • A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. (lookformedical.com)
  • Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules. (lookformedical.com)
  • A non-vascular form of connective tissue composed of CHONDROCYTES embedded in a matrix that includes CHONDROITIN SULFATE and various types of FIBRILLAR COLLAGEN. (lookformedical.com)
  • The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers. (lookformedical.com)
  • Each domain consists of two antiparallel beta sheets and is folded topologically identically to single fibronectin type III domains from the extracellular matrix proteins tenascin and fibronectin. (embl.de)
  • Several forms of collagen type V exist depending upon the composition of the subunits that form the trimer. (lookformedical.com)
  • Collagen type XI is heterotrimer containing alpha1(XI), alpha2(XI) and alpha3(XI) subunits. (lookformedical.com)
  • The RDEB-gen and -loc types involve scarring in the areas where blisters occur, but these forms of the condition do not cause the severe scarring characteristic of RDEB-sev gen. (medlineplus.gov)
  • Collagen receptors are cell surface receptors that modulate signal transduction between cells and the EXTRACELLULAR MATRIX. (lookformedical.com)
  • Type III modules are present in both extracellular and intracellular proteins. (embl.de)
  • As the blisters heal, they result in severe scarring. (medlineplus.gov)
  • The blisters heal with scarring, but it is less severe than in recessive forms of this condition. (medlineplus.gov)
  • 7] The failure of rabbit antimouse type VII collagen antibodies to induce blisters in C5-deficient mice supports a role for complement activation in the disease pathogenesis. (medscape.com)
  • Collagen VII is a very large molecule (300 kDa) that dimerizes to form a semicircular looping structure: the anchoring fibril. (wikipedia.org)
  • We report the crystal structure of two adjacent fibronectin type III repeats from the Drosophila neural cell adhesion molecule neuroglian. (embl.de)
  • These forms of the condition are somewhat less severe than RDEB-sev gen and are distinguished by the affected regions of the body. (medlineplus.gov)
  • Epidermolysis bullosa dystrophica or dystrophic EB (DEB) is an inherited disease affecting the skin and other organs. (wikipedia.org)
  • iPSC-derived keratinocytes were produced with minimal heterogeneity, and these cells secreted wild-type type VII collagen, resulting in stratified epidermis in vitro in organotypic cultures and in vivo in mice. (nih.gov)
  • We have determined the 2.0 A crystal structure of a fragment of human fibronectin encompassing the seventh through the RGD-containing tenth type III repeats (FN7-10). (embl.de)
  • The C-terminal end of the alpha1 chain of collagen type XVIII contains the ENDOSTATIN peptide, which can be released by proteolytic cleavage. (lookformedical.com)
  • The tenth fibronectin type III repeat contains a RGD cell recognition sequence in a flexible loop between 2 strands. (embl.de)
  • Crystal structure of tandem type III fibronectin domains from Drosophila neuroglian at 2.0 A. (embl.de)
  • Collagen receptors include discoidin domain receptors, INTEGRINS, and glycoprotein VI. (lookformedical.com)
  • A hydroxylated derivative of the amino acid LYSINE that is present in certain collagens. (lookformedical.com)