Epidermolysis Bullosa Dystrophica: Form of epidermolysis bullosa characterized by atrophy of blistered areas, severe scarring, and nail changes. It is most often present at birth or in early infancy and occurs in both autosomal dominant and recessive forms. All forms of dystrophic epidermolysis bullosa result from mutations in COLLAGEN TYPE VII, a major component fibrils of BASEMENT MEMBRANE and EPIDERMIS.Collagen Type VII: A non-fibrillar collagen involved in anchoring the epidermal BASEMENT MEMBRANE to underlying tissue. It is a homotrimer comprised of C-terminal and N-terminal globular domains connected by a central triple-helical region.Collagen: A polypeptide substance comprising about one third of the total protein in mammalian organisms. It is the main constituent of SKIN; CONNECTIVE TISSUE; and the organic substance of bones (BONE AND BONES) and teeth (TOOTH).Collagen Type I: The most common form of fibrillar collagen. It is a major constituent of bone (BONE AND BONES) and SKIN and consists of a heterotrimer of two alpha1(I) and one alpha2(I) chains.Mucopolysaccharidosis VII: Mucopolysaccharidosis characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.Factor VII: Heat- and storage-stable plasma protein that is activated by tissue thromboplastin to form factor VIIa in the extrinsic pathway of blood coagulation. The activated form then catalyzes the activation of factor X to factor Xa.Collagen Type III: A fibrillar collagen consisting of three identical alpha1(III) chains that is widely distributed in many tissues containing COLLAGEN TYPE I. It is particularly abundant in BLOOD VESSELS and may play a role in tissues with elastic characteristics.Glycogen Storage Disease Type VII: An autosomal recessive glycogen storage disease in which there is deficient expression of 6-phosphofructose 1-kinase in muscle (PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE) resulting in abnormal deposition of glycogen in muscle tissue. These patients have severe congenital muscular dystrophy and are exercise intolerant.Epidermolysis Bullosa Acquisita: Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IMMUNOGLOBULIN G deposited at the dermo-epidermal junction.Collagen Type IV: A non-fibrillar collagen found in the structure of BASEMENT MEMBRANE. Collagen type IV molecules assemble to form a sheet-like network which is involved in maintaining the structural integrity of basement membranes. The predominant form of the protein is comprised of two alpha1(IV) subunits and one alpha2(IV) subunit, however, at least six different alpha subunits can be incorporated into the heterotrimer.Collagen Type II: A fibrillar collagen found predominantly in CARTILAGE and vitreous humor. It consists of three identical alpha1(II) chains.Collagen Type V: A fibrillar collagen found widely distributed as a minor component in tissues that contain COLLAGEN TYPE I and COLLAGEN TYPE III. It is a heterotrimeric molecule composed of alpha1(V), alpha2(V) and alpha3(V) subunits. Several forms of collagen type V exist depending upon the composition of the subunits that form the trimer.Fibrillar Collagens: A family of structurally related collagens that form the characteristic collagen fibril bundles seen in CONNECTIVE TISSUE.Basement Membrane: A darkly stained mat-like EXTRACELLULAR MATRIX (ECM) that separates cell layers, such as EPITHELIUM from ENDOTHELIUM or a layer of CONNECTIVE TISSUE. The ECM layer that supports an overlying EPITHELIUM or ENDOTHELIUM is called basal lamina. Basement membrane (BM) can be formed by the fusion of either two adjacent basal laminae or a basal lamina with an adjacent reticular lamina of connective tissue. BM, composed mainly of TYPE IV COLLAGEN; glycoprotein LAMININ; and PROTEOGLYCAN, provides barriers as well as channels between interacting cell layers.Procollagen: A biosynthetic precursor of collagen containing additional amino acid sequences at the amino-terminal and carboxyl-terminal ends of the polypeptide chains.Collagen Type VI: A non-fibrillar collagen that forms a network of MICROFIBRILS within the EXTRACELLULAR MATRIX of CONNECTIVE TISSUE. The alpha subunits of collagen type VI assemble into antiparallel, overlapping dimers which then align to form tetramers.Collagen Type XI: A fibrillar collagen found primarily in interstitial CARTILAGE. Collagen type XI is heterotrimer containing alpha1(XI), alpha2(XI) and alpha3(XI) subunits.Skin: The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.Epidermolysis Bullosa: Group of genetically determined disorders characterized by the blistering of skin and mucosae. There are four major forms: acquired, simple, junctional, and dystrophic. Each of the latter three has several varieties.GlucuronidaseReceptors, Collagen: Collagen receptors are cell surface receptors that modulate signal transduction between cells and the EXTRACELLULAR MATRIX. They are found in many cell types and are involved in the maintenance and regulation of cell shape and behavior, including PLATELET ACTIVATION and aggregation, through many different signaling pathways and differences in their affinities for collagen isoforms. Collagen receptors include discoidin domain receptors, INTEGRINS, and glycoprotein VI.Factor VII Deficiency: An autosomal recessive characteristic or a coagulation disorder acquired in association with VITAMIN K DEFICIENCY. FACTOR VII is a Vitamin K dependent glycoprotein essential to the extrinsic pathway of coagulation.Ehlers-Danlos Syndrome: A heterogeneous group of autosomally inherited COLLAGEN DISEASES caused by defects in the synthesis or structure of FIBRILLAR COLLAGEN. There are numerous subtypes: classical, hypermobility, vascular, and others. Common clinical features include hyperextensible skin and joints, skin fragility and reduced wound healing capability.Fibril-Associated Collagens: A family of non-fibrillar collagens that interact with FIBRILLAR COLLAGENS. They contain short triple helical domains interrupted by short non-helical domains and do not form into collagen fibrils.Extracellular Matrix Proteins: Macromolecular organic compounds that contain carbon, hydrogen, oxygen, nitrogen, and usually, sulfur. These macromolecules (proteins) form an intricate meshwork in which cells are embedded to construct tissues. Variations in the relative types of macromolecules and their organization determine the type of extracellular matrix, each adapted to the functional requirements of the tissue. The two main classes of macromolecules that form the extracellular matrix are: glycosaminoglycans, usually linked to proteins (proteoglycans), and fibrous proteins (e.g., COLLAGEN; ELASTIN; FIBRONECTINS; and LAMININ).Extracellular Matrix: A meshwork-like substance found within the extracellular space and in association with the basement membrane of the cell surface. It promotes cellular proliferation and provides a supporting structure to which cells or cell lysates in culture dishes adhere.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Pepsin A: Formed from pig pepsinogen by cleavage of one peptide bond. The enzyme is a single polypeptide chain and is inhibited by methyl 2-diaazoacetamidohexanoate. It cleaves peptides preferentially at the carbonyl linkages of phenylalanine or leucine and acts as the principal digestive enzyme of gastric juice.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Collagen Type XVIII: A non-fibrillar collagen found in BASEMENT MEMBRANE. The C-terminal end of the alpha1 chain of collagen type XVIII contains the ENDOSTATIN peptide, which can be released by proteolytic cleavage.Microbial Collagenase: A metalloproteinase which degrades helical regions of native collagen to small fragments. Preferred cleavage is -Gly in the sequence -Pro-Xaa-Gly-Pro-. Six forms (or 2 classes) have been isolated from Clostridium histolyticum that are immunologically cross-reactive but possess different sequences and different specificities. Other variants have been isolated from Bacillus cereus, Empedobacter collagenolyticum, Pseudomonas marinoglutinosa, and species of Vibrio and Streptomyces. EC 3.4.24.3.Amnion: The innermost membranous sac that surrounds and protects the developing embryo which is bathed in the AMNIOTIC FLUID. Amnion cells are secretory EPITHELIAL CELLS and contribute to the amniotic fluid.Laminin: Large, noncollagenous glycoprotein with antigenic properties. It is localized in the basement membrane lamina lucida and functions to bind epithelial cells to the basement membrane. Evidence suggests that the protein plays a role in tumor invasion.Blister: Visible accumulations of fluid within or beneath the epidermis.Collagen Type X: A non-fibrillar collagen found primarily in terminally differentiated hypertrophic CHONDROCYTES. It is a homotrimer of three identical alpha1(X) subunits.Cartilage: A non-vascular form of connective tissue composed of CHONDROCYTES embedded in a matrix that includes CHONDROITIN SULFATE and various types of FIBRILLAR COLLAGEN. There are three major types: HYALINE CARTILAGE; FIBROCARTILAGE; and ELASTIC CARTILAGE.Collagen Type XII: A fibril-associated collagen found in many tissues bearing high tensile stress, such as TENDONS and LIGAMENTS. It is comprised of a trimer of three identical alpha1(XII) chains.Fibronectins: Glycoproteins found on the surfaces of cells, particularly in fibrillar structures. The proteins are lost or reduced when these cells undergo viral or chemical transformation. They are highly susceptible to proteolysis and are substrates for activated blood coagulation factor VIII. The forms present in plasma are called cold-insoluble globulins.Hydroxyproline: A hydroxylated form of the imino acid proline. A deficiency in ASCORBIC ACID can result in impaired hydroxyproline formation.Mucopolysaccharidoses: Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides). The diseases are progressive and often display a wide spectrum of clinical severity within one enzyme deficiency.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Collagen Diseases: Historically, a heterogeneous group of acute and chronic diseases, including rheumatoid arthritis, systemic lupus erythematosus, progressive systemic sclerosis, dermatomyositis, etc. 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. (From Cecil Textbook of Medicine, 19th ed, p1494)Cryoultramicrotomy: The technique of using a cryostat or freezing microtome, in which the temperature is regulated to -20 degrees Celsius, to cut ultrathin frozen sections for microscopic (usually, electron microscopic) examination.Glycogen Storage Disease: A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen. In some patients, prominent liver involvement is presented. In others, more generalized storage of glycogen occurs, sometimes with prominent cardiac involvement.Connective Tissue: Tissue that supports and binds other tissues. It consists of CONNECTIVE TISSUE CELLS embedded in a large amount of EXTRACELLULAR MATRIX.Genes, Recessive: Genes that influence the PHENOTYPE only in the homozygous state.Decorin: A small leucine-rich proteoglycan that interacts with FIBRILLAR COLLAGENS and modifies the EXTRACELLULAR MATRIX structure of CONNECTIVE TISSUE. Decorin has also been shown to play additional roles in the regulation of cellular responses to GROWTH FACTORS. The protein contains a single glycosaminoglycan chain and is similar in structure to BIGLYCAN.Collagen Type IX: A fibril-associated collagen usually found crosslinked to the surface of COLLAGEN TYPE II fibrils. It is a heterotrimer containing alpha1(IX), alpha2(IX) and alpha3(IX) subunits.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Microscopy, Electron: Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.Fluorescent Antibody Technique: Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.Fibrosis: Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury.Proteoglycans: Glycoproteins which have a very high polysaccharide content.Cartilage, Articular: A protective layer of firm, flexible cartilage over the articulating ends of bones. It provides a smooth surface for joint movement, protecting the ends of long bones from wear at points of contact.Chondrocytes: Polymorphic cells that form cartilage.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Cornea: The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)Collagen Type VIII: A non-fibrillar collagen originally found in DESCEMET MEMBRANE. It is expressed in endothelial cell layers and in tissues undergoing active remodeling. It is heterotrimer comprised of alpha1(VIII) and alpha2(VIII) chains.Keratinocytes: Epidermal cells which synthesize keratin and undergo characteristic changes as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.Mycobacterium marinum: A moderate-growing, photochromogenic species found in aquariums, diseased fish, and swimming pools. It is the cause of cutaneous lesions and granulomas (swimming pool granuloma) in humans. (Dorland, 28th ed)Tendons: Fibrous bands or cords of CONNECTIVE TISSUE at the ends of SKELETAL MUSCLE FIBERS that serve to attach the MUSCLES to bones and other structures.Peptide Fragments: Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques.Disease Models, Animal: Naturally occurring or experimentally induced animal diseases with pathological processes sufficiently similar to those of human diseases. They are used as study models for human diseases.Cattle: Domesticated bovine animals of the genus Bos, usually kept on a farm or ranch and used for the production of meat or dairy products or for heavy labor.Recombinant Proteins: Proteins prepared by recombinant DNA technology.Collagenases: Enzymes that catalyze the degradation of collagen by acting on the peptide bonds.Cell Adhesion: Adherence of cells to surfaces or to other cells.Gels: Colloids with a solid continuous phase and liquid as the dispersed phase; gels may be unstable when, due to temperature or other cause, the solid phase liquefies; the resulting colloid is called a sol.Hydroxylysine: A hydroxylated derivative of the amino acid LYSINE that is present in certain collagens.Transforming Growth Factor beta1: A subtype of transforming growth factor beta that is synthesized by a wide variety of cells. It is synthesized as a precursor molecule that is cleaved to form mature TGF-beta 1 and TGF-beta1 latency-associated peptide. The association of the cleavage products results in the formation a latent protein which must be activated to bind its receptor. Defects in the gene that encodes TGF-beta1 are the cause of CAMURATI-ENGELMANN SYNDROME.Transforming Growth Factor beta: A factor synthesized in a wide variety of tissues. It acts synergistically with TGF-alpha in inducing phenotypic transformation and can also act as a negative autocrine growth factor. TGF-beta has a potential role in embryonal development, cellular differentiation, hormone secretion, and immune function. TGF-beta is found mostly as homodimer forms of separate gene products TGF-beta1, TGF-beta2 or TGF-beta3. Heterodimers composed of TGF-beta1 and 2 (TGF-beta1.2) or of TGF-beta2 and 3 (TGF-beta2.3) have been isolated. The TGF-beta proteins are synthesized as precursor proteins.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Autoantibodies: Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Tissue Engineering: Generating tissue in vitro for clinical applications, such as replacing wounded tissues or impaired organs. The use of TISSUE SCAFFOLDING enables the generation of complex multi-layered tissues and tissue structures.Integrins: A family of transmembrane glycoproteins (MEMBRANE GLYCOPROTEINS) consisting of noncovalent heterodimers. They interact with a wide variety of ligands including EXTRACELLULAR MATRIX PROTEINS; COMPLEMENT, and other cells, while their intracellular domains interact with the CYTOSKELETON. The integrins consist of at least three identified families: the cytoadhesin receptors(RECEPTORS, CYTOADHESIN), the leukocyte adhesion receptors (RECEPTORS, LEUKOCYTE ADHESION), and the VERY LATE ANTIGEN RECEPTORS. Each family contains a common beta-subunit (INTEGRIN BETA CHAINS) combined with one or more distinct alpha-subunits (INTEGRIN ALPHA CHAINS). These receptors participate in cell-matrix and cell-cell adhesion in many physiologically important processes, including embryological development; HEMOSTASIS; THROMBOSIS; WOUND HEALING; immune and nonimmune defense mechanisms; and oncogenic transformation.Electrophoresis, Polyacrylamide Gel: Electrophoresis in which a polyacrylamide gel is used as the diffusion medium.Glycosaminoglycans: Heteropolysaccharides which contain an N-acetylated hexosamine in a characteristic repeating disaccharide unit. The repeating structure of each disaccharide involves alternate 1,4- and 1,3-linkages consisting of either N-acetylglucosamine or N-acetylgalactosamine.Genetic Therapy: Techniques and strategies which include the use of coding sequences and other conventional or radical means to transform or modify cells for the purpose of treating or reversing disease conditions.ElastinIntegrin alpha2: An integrin alpha subunit that primarily combines with INTEGRIN BETA1 to form the INTEGRIN ALPHA2BETA1 heterodimer. It contains a domain which has homology to collagen-binding domains found in von Willebrand factor.HSP47 Heat-Shock Proteins: Basic glycoprotein members of the SERPIN SUPERFAMILY that function as COLLAGEN-specific MOLECULAR CHAPERONES in the ENDOPLASMIC RETICULUM.Chondrogenesis: The formation of cartilage. This process is directed by CHONDROCYTES which continually divide and lay down matrix during development. It is sometimes a precursor to OSTEOGENESIS.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Aggrecans: Large HYALURONAN-containing proteoglycans found in articular cartilage (CARTILAGE, ARTICULAR). They form into aggregates that provide tissues with the capacity to resist high compressive and tensile forces.Integrin alpha1beta1: Integrin alpha1beta1 functions as a receptor for LAMININ and COLLAGEN. It is widely expressed during development, but in the adult is the predominant laminin receptor (RECEPTORS, LAMININ) in mature SMOOTH MUSCLE CELLS, where it is important for maintenance of the differentiated phenotype of these cells. Integrin alpha1beta1 is also found in LYMPHOCYTES and microvascular endothelial cells, and may play a role in angiogenesis. In SCHWANN CELLS and neural crest cells, it is involved in cell migration. Integrin alpha1beta1 is also known as VLA-1 and CD49a-CD29.Reverse Transcriptase Polymerase Chain Reaction: A variation of the PCR technique in which cDNA is made from RNA via reverse transcription. The resultant cDNA is then amplified using standard PCR protocols.Osteogenesis Imperfecta: COLLAGEN DISEASES characterized by brittle, osteoporotic, and easily fractured bones. It may also present with blue sclerae, loose joints, and imperfect dentin formation. Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I.Rabbits: The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.Matrix Metalloproteinase 1: A member of the metalloproteinase family of enzymes that is principally responsible for cleaving FIBRILLAR COLLAGEN. It can degrade interstitial collagens, types I, II and III.Cell Line: Established cell cultures that have the potential to propagate indefinitely.Genital Neoplasms, Male: Tumor or cancer of the MALE GENITALIA.Chick Embryo: The developmental entity of a fertilized chicken egg (ZYGOTE). The developmental process begins about 24 h before the egg is laid at the BLASTODISC, a small whitish spot on the surface of the EGG YOLK. After 21 days of incubation, the embryo is fully developed before hatching.Platelet Adhesiveness: The process whereby PLATELETS adhere to something other than platelets, e.g., COLLAGEN; BASEMENT MEMBRANE; MICROFIBRILS; or other "foreign" surfaces.Descemet Membrane: A layer of the cornea. It is the basal lamina of the CORNEAL ENDOTHELIUM (from which it is secreted) separating it from the CORNEAL STROMA. It is a homogeneous structure composed of fine collagenous filaments, and slowly increases in thickness with age.Wound Healing: Restoration of integrity to traumatized tissue.Time Factors: Elements of limited time intervals, contributing to particular results or situations.Protein Binding: The process in which substances, either endogenous or exogenous, bind to proteins, peptides, enzymes, protein precursors, or allied compounds. Specific protein-binding measures are often used as assays in diagnostic assessments.Blotting, Western: Identification of proteins or peptides that have been electrophoretically separated by blot transferring from the electrophoresis gel to strips of nitrocellulose paper, followed by labeling with antibody probes.Microscopy, Electron, Scanning: Microscopy in which the object is examined directly by an electron beam scanning the specimen point-by-point. The image is constructed by detecting the products of specimen interactions that are projected above the plane of the sample, such as backscattered electrons. Although SCANNING TRANSMISSION ELECTRON MICROSCOPY also scans the specimen point by point with the electron beam, the image is constructed by detecting the electrons, or their interaction products that are transmitted through the sample plane, so that is a form of TRANSMISSION ELECTRON MICROSCOPY.Tissue Scaffolds: Cell growth support structures composed of BIOCOMPATIBLE MATERIALS. They are specially designed solid support matrices for cell attachment in TISSUE ENGINEERING and GUIDED TISSUE REGENERATION uses.Phosphofructokinase-1: An allosteric enzyme that regulates glycolysis by catalyzing the transfer of a phosphate group from ATP to fructose-6-phosphate to yield fructose-1,6-bisphosphate. D-tagatose- 6-phosphate and sedoheptulose-7-phosphate also are acceptors. UTP, CTP, and ITP also are donors. In human phosphofructokinase-1, three types of subunits have been identified. They are PHOSPHOFRUCTOKINASE-1, MUSCLE TYPE; PHOSPHOFRUCTOKINASE-1, LIVER TYPE; and PHOSPHOFRUCTOKINASE-1, TYPE C; found in platelets, brain, and other tissues.Procollagen-Lysine, 2-Oxoglutarate 5-Dioxygenase: A mixed-function oxygenase that catalyzes the hydroxylation of peptidyllysine, usually in protocollagen, to peptidylhydroxylysine. The enzyme utilizes molecular oxygen with concomitant oxidative decarboxylation of the cosubstrate 2-oxoglutarate to succinate. EC 1.14.11.4.Non-Fibrillar Collagens: A family of structurally-related short-chain collagens that do not form large fibril bundles.Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.Bone and Bones: A specialized CONNECTIVE TISSUE that is the main constituent of the SKELETON. The principle cellular component of bone is comprised of OSTEOBLASTS; OSTEOCYTES; and OSTEOCLASTS, while FIBRILLAR COLLAGENS and hydroxyapatite crystals form the BONE MATRIX.Antibodies: Immunoglobulin molecules having a specific amino acid sequence by virtue of which they interact only with the ANTIGEN (or a very similar shape) that induced their synthesis in cells of the lymphoid series (especially PLASMA CELLS).Sweat Glands: Sweat-producing structures that are embedded in the DERMIS. Each gland consists of a single tube, a coiled body, and a superficial duct.Biglycan: A small leucine-rich proteoglycan found in a variety of tissues including CAPILLARY ENDOTHELIUM; SKELETAL MUSCLE; CARTILAGE; BONE; and TENDONS. The protein contains two glycosaminoglycan chains and is similar in structure to DECORIN.Desmosomes: A type of junction that attaches one cell to its neighbor. One of a number of differentiated regions which occur, for example, where the cytoplasmic membranes of adjacent epithelial cells are closely apposed. It consists of a circular region of each membrane together with associated intracellular microfilaments and an intercellular material which may include, for example, mucopolysaccharides. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990; Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Epithelium: One or more layers of EPITHELIAL CELLS, supported by the basal lamina, which covers the inner or outer surfaces of the body.Matrix Metalloproteinase 2: A secreted endopeptidase homologous with INTERSTITIAL COLLAGENASE, but which possesses an additional fibronectin-like domain.Cloning, Molecular: The insertion of recombinant DNA molecules from prokaryotic and/or eukaryotic sources into a replicating vehicle, such as a plasmid or virus vector, and the introduction of the resultant hybrid molecules into recipient cells without altering the viability of those cells.Exons: The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.Corneal Stroma: The lamellated connective tissue constituting the thickest layer of the cornea between the Bowman and Descemet membranes.Arthritis, Experimental: ARTHRITIS that is induced in experimental animals. Immunological methods and infectious agents can be used to develop experimental arthritis models. These methods include injections of stimulators of the immune response, such as an adjuvant (ADJUVANTS, IMMUNOLOGIC) or COLLAGEN.Antigens, CD29: Integrin beta-1 chains which are expressed as heterodimers that are noncovalently associated with specific alpha-chains of the CD49 family (CD49a-f). CD29 is expressed on resting and activated leukocytes and is a marker for all of the very late activation antigens on cells. (from: Barclay et al., The Leukocyte Antigen FactsBook, 1993, p164)Proline: A non-essential amino acid that is synthesized from GLUTAMIC ACID. It is an essential component of COLLAGEN and is important for proper functioning of joints and tendons.Antibodies, Monoclonal: Antibodies produced by a single clone of cells.Protein Conformation: The characteristic 3-dimensional shape of a protein, including the secondary, supersecondary (motifs), tertiary (domains) and quaternary structure of the peptide chain. PROTEIN STRUCTURE, QUATERNARY describes the conformation assumed by multimeric proteins (aggregates of more than one polypeptide chain).Factor VIIa: Activated form of factor VII. Factor VIIa activates factor X in the extrinsic pathway of blood coagulation.Collagen Type XIII: A non-fibrillar collagen found as a ubiquitously expressed membrane- associated protein. Type XIII collagen contains both collagenous and non-collagenous domains along with a transmembrane domain within its N-terminal region.Peptides: Members of the class of compounds composed of AMINO ACIDS joined together by peptide bonds between adjacent amino acids into linear, branched or cyclical structures. OLIGOPEPTIDES are composed of approximately 2-12 amino acids. Polypeptides are composed of approximately 13 or more amino acids. PROTEINS are linear polypeptides that are normally synthesized on RIBOSOMES.Protein Structure, Tertiary: The level of protein structure in which combinations of secondary protein structures (alpha helices, beta sheets, loop regions, and motifs) pack together to form folded shapes called domains. Disulfide bridges between cysteines in two different parts of the polypeptide chain along with other interactions between the chains play a role in the formation and stabilization of tertiary structure. Small proteins usually consist of only one domain but larger proteins may contain a number of domains connected by segments of polypeptide chain which lack regular secondary structure.Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen. (1/98)

Collagen VII is the major structural component of the anchoring fibrils at the dermal-epidermal junction in the skin. It is secreted by keratinocytes as a precursor, procollagen VII, and processed into mature collagen during polymerization of the anchoring fibrils. We show that bone morphogenetic protein-1 (BMP-1), which exhibits procollagen C-proteinase activity, cleaves the C-terminal propeptide from human procollagen VII. The cleavage occurs at the BMP-1 consensus cleavage site SYAA/DTAG within the NC-2 domain. Mammalian tolloid-like (mTLL)-1 and -2, two other proteases of the astacin enzyme family, were able to process procollagen VII at the same site in vitro. Immunohistochemical and genetic evidence supported the involvement of these enzymes in cleaving type VII procollagen in vivo. Both BMP-1 and mTLL-1 are expressed in the skin and in cultured cutaneous cells. A naturally occurring deletion in the human COL7A1 gene, 8523del14, which is associated with dystrophic epidermolysis bullosa and eliminates the BMP-1 consensus sequence, abolished processing of procollagen VII, and in mutant skin procollagen VII accumulated at the dermal-epidermal junction. On the other hand, deficiency of BMP-1 in the skin of knockout mouse embryos did not prevent processing of procollagen VII to mature collagen, suggesting that mTLL-1 and/or mTLL-2 can substitute for BMP-1 in the processing of procollagen VII in situ.  (+info)

The majority of keratinocytes incorporate intradermally injected plasmid DNA regardless of size but only a small proportion of cells can express the gene product. (2/98)

The expression of intradermally injected DNA by keratinocytes is found mainly in the upper and middle layers of the epidermis. To investigate the mechanism of this selective expression, we observed the sequential changes in the distribution of interleukin-6-expressing keratinocytes after the introduction of the interleukin-6 gene. Transgene expression first occurred in basal keratinocytes and subsequently expanded to all epidermal layers and then remained in the upper layers. Semiquantitative analysis indicated that keratinocytes in the lower layers incorporated and lost DNA earlier than those in the upper layers. In order to examine the effect of the DNA size on the transgene expression, we constructed a plasmid containing a full-length 9 kb cDNA of type VII collagen and introduced it into keratinocytes. The expression pattern of type VII collagen in the epidermis was the same as those for smaller genes. This suggests that plasmid size has little or no effect on the expression pattern of the transfected gene. To trace the introduced plasmid, we intradermally injected a green fluorescence protein expression plasmid coupled with a rhodamine flag. Almost all keratinocytes in the injected areas showed rhodamine fluorescence. Furthermore, some cells also expressed green fluorescence protein. A lack of rhodamine fluorescence in the nucleus suggested an impairment of plasmid DNA transport from the cytoplasm to the nucleus. Collectively, our results show that the majority of keratinocytes take up the intradermally injected DNA regardless of its size, but that the transfer of DNA from the cytoplasm to the nucleus is limiting the transgene expression.  (+info)

The epidermolysis bullosa acquisita antigen (type VII collagen) is present in human colon and patients with crohn's disease have autoantibodies to type VII collagen. (3/98)

Epidermolysis bullosa acquisita is an autoimmune blistering disease of the skin characterized by IgG autoantibodies against type VII collagen. Systemic diseases are often associated with epidermolysis bullosa acquisita, Crohn's disease being the most frequent. This study sought to determine if type VII collagen, the epidermolysis bullosa acquisita autoantigen, was present in normal human colon by western blotting and immunofluorescence. The 290 kDa type VII collagen alpha chain was demonstrated by western blotting in four normal intraoperative colon specimens. Antibodies to type VII collagen labeled the junction between the intestinal epithelium and the lamina propria. We also used an enzyme-linked immunosorbent assay to test sera from patients with Crohn's disease (n = 19), ulcerative colitis (n = 31), celiac disease (n = 17), rheumatoid arthritis (n = 15), and normal controls (n = 16). It was found that 13 of 19 patients with Crohn's disease and four of 31 patients with ulcerative colitis demonstrated reactivity to type VII collagen. Sera from control subjects, patients with celiac disease or rheumatoid arthritis were negative. The sera from Crohn's disease patients also reacted with type VII collagen by immunoblot analysis. It was concluded that patients with inflammatory bowel disease may have IgG autoantibodies to type VII collagen, which exists in both the skin and the gut.  (+info)

Autoantibodies to type VII collagen mediate Fcgamma-dependent neutrophil activation and induce dermal-epidermal separation in cryosections of human skin. (4/98)

Epidermolysis bullosa acquisita is an autoimmune subepidermal blistering disease associated with autoantibodies to type VII collagen, the major constituent of anchoring fibrils. Previous attempts to demonstrate the blister-inducing potential of autoantibodies to this protein have failed. To address this question, we used an in vitro model involving cryosections of human skin incubated with patients' autoantibodies and leukocytes from healthy donors. We show that sera from 14 of 16 epidermolysis bullosa acquisita patients, in contrast to sera from healthy controls, induced dermal-epidermal separation in the cryosections. Recruitment and activation of neutrophils at the dermal-epidermal junction was necessary for split induction, whereas mononuclear cells were not required. Importantly, patients' autoantibodies affinity-purified against a recombinant form of the noncollagenous 1 domain of type VII collagen retained their blister-inducing capacity in a dose-dependent manner, whereas patients' IgG that was depleted of reactivity to type VII collagen lost this ability. Monoclonal antibody LH7.2 to the noncollagenous 1 domain of type VII collagen also induced subepidermal splits in the cryosections; F(ab')(2) fragments of autoantibodies to type VII collagen were not pathogenic. We demonstrate the capacity of autoantibodies to type VII collagen to trigger an Fcgamma-dependent inflammation leading to split formation in cryosections of human skin.  (+info)

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa. (5/98)

Dystrophic epidermolysis bullosa (DEB) is a rare skin disorder that is clinically heterogeneous and is transmitted either in dominant (DDEB) or recessive (RDEB) mode. Nevertheless, all variants of DEB are caused by mutations in type VII collagen gene (COL7A1). We report an analysis of COL7A1 mutations in 51 Italian DEB patients, 27 affected with Hallopeau-Siemens RDEB, 19 with non Hallopeau-Siemens RDEB, two with DDEB, two with pretibial RDEB, and one with inversa RDEB. Forty-one mutations were identified, 18 of which are novel. Mutation consequences were analyzed at the mRNA and protein level and genotype-phenotype correlation was determined. Recessive inheritance of a new case of pretibial RDEB was also established. In RDEB patients, six recurrent mutations were identified: 7344G-->A, 425A-->G, 8441-14del21, 4783-1G-->A, 497insA, and G1664A, the last three being found only in Italian patients. Indeed, haplotype analysis supported propagation of ancestral mutated alleles within the Italian population for these particular mutations. Altogether recurrent mutations account for approximately 43% of RDEB alleles in Italian patients and therefore new DEB patients should first be screened for the presence of these mutations.  (+info)

Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue. (6/98)

Current therapeutic strategies for genetic skin disorders rely on the complex process of grafting genetically engineered tissue to recipient wound beds. Because fibroblasts synthesize and secrete extracellular matrix, we explored their utility in recessive dystrophic epidermolysis bullosa (RDEB), a blistering disease due to defective extracellular type VII collagen. Intradermal injection of RDEB fibroblasts overexpressing type VII collagen into intact RDEB skin stably restored correctly localized type VII collagen expression in vivo and normalized hallmark RDEB disease features, including subepidermal blistering and anchoring fibril defects. This article was published online in advance of the print edition. The date of publication is available from the JCI website, http://www.jci.org.  (+info)

Identification of COL7A1 alternative splicing inserting 9 amino acid residues into the fibronectin type III linker domain. (7/98)

Type VII collagen is the major component of anchoring fibrils within the cutaneous basement membrane zone. The large amino-terminal noncollagenous domain of type VII collagen interacts with various extracellular matrix proteins and contributes to the dermal-epidermal attachment. The purpose of this study was to detect alternative splicing of COL7A1 transcript encoding the noncollagenous 1 domain. The alternative splicing in this region may affect interactions of the noncollagenous 1 domain with extracellular matrix proteins and also dermal-epidermal adhesion. Thus we examined expression of the alternative splicing in situations relating to wound healing and skin remodeling that required dermal-epidermal binding and detachment. Amplification of overlapping cDNA from keratinocytes using reverse transcription-polymerase chain reaction identified alternative splicing, which was generated by a different exon 18 acceptor site 27 bp upstream from the common acceptor site. Expression of this alternatively spliced transcript differed among several cell types. The nine amino acid residues GPLTLPLSP from the 27 bp nucleotides were inserted into the linker of fibronectin type III domains. This insertion was suggested to contribute to flexibility of the linker of fibronectin type III domains and may affect the interactions between the noncollagenous 1 domain and extracellular matrix proteins. Treatment with transforming growth factor-beta 1, which is known to promote wound healing and skin remodeling, enhanced the expression of this 27 bp transcript. Furthermore, keratinocyte biopsies from the wound edge of patients with epithelizing skin ulcers showed a significant increase in the 27 bp transcript expression compared with normal keratinocytes from steady-state body sites. These results suggest that amino acid variation of this alternative splicing may have some role in dermal-epidermal adhesion, wound healing, and skin remodeling. To the best of our knowledge, this is the first evidence of alternative splice insertion of a small peptide into the linker region of the fibronectin type III domains, a common motif within modular proteins.  (+info)

Genetic correction of canine dystrophic epidermolysis bullosa mediated by retroviral vectors. (8/98)

We have assessed the suitability of retroviral vectors for gene therapy of recessive dystrophic epidermolysis bullosa (RDEB) in dogs expressing a mutated collagen type VII. Isolation and analysis of the 9 kb dog collagen type VII cDNA identified the causative genetic mutation G1906S and disclosed the interspecies conservation of collagen type VII. Highly efficient transfer of the wild-type collagen type VII cDNA to both dog RDEB and human primary RDEB collagen type VII-null keratinocytes using recombinant vectors derived from LZRS-Ires-zeo and MSCV retroviruses achieved sustained and permanent expression of the transgene product. The expression and post-translational modification profile of the recombinant collagen type VII was comparable to that of the wild-type counterpart. The recombinant canine collagen type VII in human RDEB keratinocytes and dog cells corrected the observable defects caused by RDEB keratinocytes in cell cultures and in vitro reconstructed skin. Hypermotility was fully reverted in human RDEB keratinocytes, and strongly reduced in the dog RDEB cells. This observation suggests that not only infection efficiency but also high expression levels are required to ensure therapeutic efficacy in the presence of mutated gene products. Our results set the basis for preclinical gene therapy assays in the first immune-competent large animal model for an inherited skin disease and broaden the spectrum of preclinical and clinical applications of retroviral vectors in the transfer of large recombinant genes in epithelial cells.  (+info)

Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. It functions as an anchoring fibril between the external epithelia and the underlying stroma. Mutations in this gene are associated with all forms of dystrophic epidermolysis bullosa. In the absence of mutations, however, an autoimmune response against type VII collagen can result in an acquired form of this disease called epidermolysis bullosa acquisita. Type VII collagen is also found in the retina; its function in this organ is unknown. COL7A1 is located on the short arm of human chromosome 3, in the chromosomal region denoted 3p21.31. The gene is approximately 31,000 base pairs in size and is remarkable for the extreme fragmentation of its coding sequence into 118 exons. COL7A1 is transcribed into ...
Epidermolysis Bullosa encompasses a group of inherited heterogeneous diseases involving trauma induced blistering of the skin. Recessive Dystrophic Epidermolysis Bullosa (RDEB) is one of the most debilitating variants of the disease and patients are predisposed to developing aggressive cutaneous Squamous Cell Carcinoma (SCC). Unlike SCC in the general population, the primary cause of RDEB associated SCC is not UV-radiation. SCC in RDEB patients has poor prognosis due to a high frequency of recurrence and metastasis. 70% of all severe generalized RDEB patients die from SCC by the age of 45, compared to only 1.25% of all patients with UV-induced SCC in the general population (Fine et al. 2008), making SCC the leading cause of death in these RDEB patients. The aim of this investigation was to identify therapeutic targets for RDEB associated SCC. Global gene expression studies identified 36 candidate genes which were differentially regulated in RDEB SCC (n=4) compared with non-RDEB SCC (n=5) primary ...
TY - JOUR. T1 - Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa. AU - Ng, Yi Zhen. AU - Pourreyron, Celine. AU - Salas-Alanis, Julio C.. AU - Dayal, Jasbani H.S.. AU - Cepeda-Valdes, Rodrigo. AU - Yan, Wenfei. AU - Wright, Sheila. AU - Chen, Mei. AU - Fine, Jo David. AU - Hogg, Fiona J.. AU - McGrath, John A.. AU - Murrell, Dedee F.. AU - Leigh, Irene M.. AU - Lane, E. Birgit. AU - South, Andrew P.. PY - 2012/7/15. Y1 - 2012/7/15. N2 - Patients with the genetic skin blistering disease recessive dystrophic epidermolysis bullosa (RDEB) develop aggressive cutaneous squamous cell carcinoma (cSCC). Metastasis leading to mortality is greater in RDEB than in other patient groups with cSCC. Here we investigate the dermal component in RDEB using mRNA expression profiling to compare cultured fibroblasts isolated from individuals without cSCC and directly from tumor matrix in RDEB and non-RDEB ...
Results All 20 patients had generalised blistering at birth and during early infancy. In most patients, the age of transition from generalised to inversa distribution was before the age of 4 years. A spectrum of disease severity, ranging from the mildest mucosal only phenotype to the severest phenotype with limited acral involvement, was noted. The 29 genotypes of these RDEB-I patients and those reported in the literature revealed that RDEB-I is associated with specific recessive arginine and glycine substitutions in the triple helix domain of type VII collagen. ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
BACKGROUND. Recessive dystrophic epidermolysis bullosa (RDEB) is an incurable disease caused by mutations in the gene encoding type VII collagen, the major component of anchoring fibrils (AF). We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. METHODS. A double-blind, placebo-controlled pilot trial assessed safety and efficacy of topical and intradermal gentamicin in 5 RDEB patients with nonsense mutations. The topical arm tested 0.1% gentamicin ointment or placebo application 3 times daily at 2 open erosion sites for 2 weeks. The intradermal arm tested daily intradermal injection of gentamicin solution (8 mg) or placebo into 2 intact skin sites for 2 days in 4 of 5 patients. Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary ...
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TY - JOUR. T1 - Stromal microenvironment in type VII collagen-deficient skin. T2 - The ground for squamous cell carcinoma development. AU - Guerra, Liliana. AU - Odorisio, Teresa. AU - Zambruno, Giovanna. AU - Castiglia, Daniele. PY - 2017/11/1. Y1 - 2017/11/1. N2 - Recessive dystrophic epidermolysis bullosa (RDEB) is a skin fragility disease caused by mutations that affect the function and/or the amount of type VII collagen (C7), the major component of anchoring fibrils. Hallmarks of RDEB are unremitting blistering and chronic wounds leading to tissue fibrosis and scarring. Nearly all patients with severe RDEB develop highly metastatic squamous cell carcinomas (SCC) which are the main cause of death. Accumulating evidence from a murine RDEB model and human RDEB cells demonstrates that lack of C7 also directly alters the wound healing process. Non-healing RDEB wounds are characterized by increased inflammation, high transforming growth factor-β1 (TGF-β1) levels and activity, and are heavily ...
In the Netherlands, allogeneic HSCT using cord blood from an unrelated donor is covered by health insurance. Due to the novelty, the treatment is being offered in the form of a clinical trial. The trial has been open as of March 1st 2016 in the University Medical Centre Groningen and Wilhelmina Childrens Hospital of the University Medical Centre Utrecht. The rate for intake and transplantation is limited to one patient per two months. We aim to treat 10 patients. Eligible patient are those with severe generalized recessive dystrophic epidermolysis bullosa (preferably complete absence of type VII collagen), an age between 0-18 years, and be willing to visit Groningen and Utrecht regularly for 2 years. The hospitalization period is on average 8 weeks but may be longer. Patients from the European Union need an E-112 form approved by their national health insurance to cover hospital costs in the Netherlands. Parents can rent a room in the Ronald McDonald House or find a rental apartment with our ...
Phase I/II ex vivo gene therapy clinical trial for recessive dystrophic epidermolysis bullosa using skin equivalent grafts genetically corrected with a COL7A1-encoding SIN retroviral vector (Orphan drug designation (EU/3/09/630)) (GENEGRAFT ...
Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa., Stephen A Watt, Jasbani H S Dayal, Sheila Wright, Megan Riddle, Celine Pourreyron, James R McMillan, Roy M Kimble, Marco Prisco, Ulrike Gartner, Emma Warbrick, W H Irwin McLean, Irene M Leigh, John A McGrath, Julio C Salas-Alanis, Jakub Tolar, and Andrew P South. ...
Dr. Blazar is the author of more than 500 manuscripts which have appeared in premier peer-reviewed publications. Following are selected peer-reviewed papers, 2014 - 2015:. Sawitzki B, Brunstein C, Meisel C, Schumann, J, Vogt K, Appelt C, Curtsinger JM, Verneris MR, Miller JS, Wagner JE, Blazar BR. Prevention of graft-versus-host disease by adoptive Tregulatory therapy is associated with active repression of peripheral blood toll-like receptor-5 mRNA expression. Biol Blood Marrow Transplant 20:173-82, 2014. PMID: 24184334.. Tolar J, McGrath JA, Xia L, Riddle MJ, Lees CJ, Eide C, Keene DR, Liu L, Osborn MJ, Lund TC, Blazar BR, Wagner, JE. Patient-specific naturally gene-reverted induced pluriopotent stem cells in recessive dystrophic epidermolysis bullosa. J Invest Dermatol, 134:1246-54, 2014. PMID: 24317394.. Lin KL, Berginski M, West ML, Fulton LM, Coghill JM, Blazar BR, Bear JE, Serody JS. Intravital imaging of donor allogeneic effector and regulatory T cells with host dendritic cells during ...
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
These structures contain the extracellular portions of collagen XVII (BP180) and alpha-6-beta-4 (α-6-β-4) integrin. In addition, anchoring filaments contain the molecules laminin 5 and laminin 6. Similar to all members of the family of laminin proteins, laminin 5 is a large heterotrimeric molecule, containing α-3, β-3, and g-2 chains. Laminin 5 forms a disulfide-bonded attachment to laminin 6, the other known anchoring filament laminin, which contains α-3, β-1, and g-1 chains. Laminin 5 also forms a strong association with type VII collagen, which serves to connect anchoring filaments with anchoring fibrils ...
A-C: Appearance of control (CT) (A), Rxratm4Ipc/Rxratm4Ipc Rxrbtm1Pcn/Rxrbtm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 (Rxralpha beta ep-/-) (B), and Rxratm1Ipc/Rxratm4Ipc Rxrbtm1Mma/Rxrbtm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 (RXRalpha betaepaf2o)(C) mice at week 5. Close views of the ears are shown in Insets. Black arrows in B and C point to regions with hair loss, and white arrowhead in B Inset points to the red and swollen ear. D-F: Hematoxylin and eosin staining of ear sections of CT (D), Rxratm4Ipc/Rxratm4Ipc Rxrbtm1Pcn/Rxrbtm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 (E), and Rxratm1Ipc/Rxratm4Ipc Rxrbtm1Mma/Rxrbtm1Pcn Tg(KRT14-cre/ERT2)1Ipc/0 (F) at week 5. White arrows point to dermal-epidermal junction. hf, hair follicle; u, utriculi. Scale bar 50um ...
Epidermolysis bullosa acquisita associated with relapsing polychondritis: an association with eosinophilia?: Epidermolysis bullosa acquisita is a blistering dis
Epidermolysis Bullosa Acquisita (EBA) is another rare type of Epidermolysis Bullosa, which isnt inherited. Blistering associated with this condition occurs as the result of the immune system mistakenly attacking healthy tissue. It is similar to a condition called bullous pemphigoid, which also is related to an immune system disorder. EBA has been associated with Crohns disease, an inflammatory bowel disease ...
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to form tense blisters in response to minor injury. This is an acquired autoimmune disease and the initiating event that leads to disease is unknown. This means that the immune system attacks healthy cells by mistake. In EBA, the body mistakenly attacks collagen, a type of protein in the skin that helps to keep the skin intact. Epidermolysis bullosa is a genetic form of the disease that occurs through inheritance of specific genes, unlike EBA, which occurs sporadically in people with no history of the condition in their families. EBA usually presents in adulthood, most commonly on the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Males, females and individuals of all races can be affected. Some affected people have other medical problems such as Crohns disease, systemic lupus erythematosus, amyloidosis, and multiple myeloma. Symptoms usually occur in the fourth ...
Epidermolysis bullosa acquisita (EBA) is a rare autoimmune disorder that causes the skin to form tense blisters in response to minor injury. This is an acquired autoimmune disease and the initiating event that leads to disease is unknown. This means that the immune system attacks healthy cells by mistake. In EBA, the body mistakenly attacks collagen, a type of protein in the skin that helps to keep the skin intact. Epidermolysis bullosa is a genetic form of the disease that occurs through inheritance of specific genes, unlike EBA, which occurs sporadically in people with no history of the condition in their families. EBA usually presents in adulthood, most commonly on the hands, feet, knees, elbows, and buttocks. It can also affect the mouth, nose, and eyes. Males, females and individuals of all races can be affected. Some affected people have other medical problems such as Crohns disease, systemic lupus erythematosus, amyloidosis, and multiple myeloma. Symptoms usually occur in the fourth ...
Wounds up to 12 cm2: 1 spray each component (0.5 x 106 cells per mL allogeneic human keratinocytes and fibroblasts) applied weekly as a topical spray for up to 4 weeks in each of 2 treatment periods. Larger wounds:. (,12 cm2 and ≤ 24 cm2) 2 sprays each; (,24 cm2 and ≤ 36 cm2) 3 sprays each; (,36 cm2 and ≤ 48 cm2) 4 sprays each ...
Each patient will be given 10 micrograms per kilogram per day of G-CSF subcutaneously for 6 consecutive days. On day 7 each patient will be seen and evaluated in the same manner as on day 0. Patients or their parents (if children are too young to reliably respond themselves) will also be asked to rate the following via a visual analog scale of 1-9- oral pain, pruritus, oral pain, swallowing, and overall sense of well-being. A telephone follow-up will be conducted on all patients 28 days after G-CSF so as to evaluate if the effect noted on day 7 was sustained ...
If patients could recognise themselves, or anyone else could recognise a patient from your description, please obtain the patients written consent to publication and send them to the editorial office before submitting your response [Patient consent forms] ...
Epidermolysis bullosa (EB) is caused by mutations in as many as 19 distinct genes. We have developed a next-generation sequencing (NGS) panel targeting genes known to be mutated in skin fragility disorders, including tetraspanen CD151 expressed in keratinocytes at the dermal-epidermal junction. The NGS panel was applied to a cohort of 92 consanguineous families of unknown subtype of EB. In one family, a homozygous donor splice site mutation in CD151 (NM_139029; c.351+2T,C) at the exon 5/intron 5 border was identified, and RT-PCR and whole transcriptome analysis by RNA-seq confirmed deletion of the entire exon 5 encoding 25 amino acids ...
Autoantibodies, Collagen, Disease, Diseases, Epidermolysis Bullosa, Gene, Membranes, Mucous Membranes, Mutations, Patients, Skin, Skin Diseases, Suffering, Syndrome, Type Vii Collagen
The overall functions of skin, the bodys largest organ, decrease with age. Decline is noted in cell replacement, sensory perception, thermal regulation, and chemical clearance. Decreases in sweat, sebum, and vitamin D production also occur.[2] Immune response is lessened; the incidence of neoplasms increases, and there is greater susceptibility to skin infections. Wounds heal more slowly due to a combination of decreased immune and inflammatory response, collagen degradation, and decreased synthesis, and a 30% to 50% decline in epidermal turnover that takes place between the third and eighth decade of life.[3] Other normal changes and potential implications of skin aging include: z Flattening of the dermal-epidermal junction, causing a decrease in the contact surface between the dermis and epidermis. This change may compromise communication and nutrient transfer between skin layers. z Increased dermal separation that may cause increased blistering or tearing. z Decrease in epidermal filaggrin ...
As summarized in Table I, 13 from the sufferers were classified as RDEB-sev, gen (sufferers 1C13) with mutations that created early termination codons (PTCs) because of non-sense or splice-site mutations (Spl), small deletions or insertions. Another nine RDEB sufferers (sufferers 14C22) acquired missense mutations (Mis) in a single allele of predicting glycine or arginine substitutions in the TH domains. Six sufferers (sufferers 14C19) acquired mutations connected with RDEB-I. Three sufferers acquired RDEB-O (sufferers 20C22). From the 22 sequenced RDEB individuals, 32 mutant alleles were identified. Nearly one third (10 of 32) of these mutations have not been previously reported. Table 1 Summary of the clinical and mutational analysis of RDEB individuals. We assessed the level of C7 expression in the DEJ of their epidermis by immunofluorescence staining of peri-lesional epidermis using a rabbit-anti-NC1 antibody (Chen 1997). As Gefitinib summarized in Desk 1 and Supplementary on-line Amount S1, ...
Six-year-old, Rafi, a resident of Manhattan, suffers from a rare genetic skin disorder which causes her to have a very delicate skin that blisters and tears even with the slightest touch.
Doctors treated a child who had a life-threatening genetic skin disease through a transplant of skin grown using genetically modified stem cells.
I am 28 years old. I have been married for 8 years. I am a stay at home mom of two children. My oldest child, EmmaLee, was born with a rare genetic skin disease called Nethertons Syndrome. She is 6 years old, and my younger son, Ethan, is 5. We definitely have our challenges, and sometimes I dont know if I have the strength to fulfill my calling, but I love my family so much and Im thankful for them every day ...
FUJIFILM Diosynth Biotechnologies, un leader nel comparto CDMO (Contract Development and Manufacturing Organization), con esperienza acquisita focaliz
The dermoepidermal junction or dermal-epidermal junction (DEJ) is the area of tissue that joins the epidermal and the dermal layers of the skin.[1] The basal cells in the stratum basale of the epidermis connect to the basement membrane by the anchoring filaments of hemidesmosomes; the cells of the papillary layer of the dermis are attached to the basement membrane by anchoring fibrils, which consist of type VII collagen.[2] Stevens-Johnson syndrome and toxic epidermal necrolysis are diseases where there is a breakdown of the dermoepidermal junction. ...
Laminin-5 and its cell surface receptor a6b4 integrin are required for development of squamous cell carcinomas. Lack of either of these molecules results in a lack of tumor growth, whereas overexpression of these molecules correlates with increasing tumor invasiveness and a worsening patient prognosis. We have identified that laminin-5 undergoes proteolytic processing of two of its three chains, via mammalian Tolloid, a metalloprotease of the astacin family. Processing of laminin-5 promotes tumor invasion. We are currently studying the mechanisms whereby these processing events influence tumor cell invasion, migration and metastasis. Type VII collagen appears to play a key role in tumor invasion, and appears to operate through association with laminin-5. We are currently studying the mechanism of this association and its role in tumorigenesis. The laminin-5 receptor a6b4 integrin interacts with laminin-5 at one end and with intracellular protein complexes at the other end, through which it ...
I am dedicated to providing high quality and compassionate patient care. I enjoy interacting with families and treating all types of pediatric skin problems. My special focus is on hemangiomas and genetic skin disorders ...
Plasmid EBA140-bio from Dr. Gavin Wrights lab contains the insert Codon-optimised EBA140 and is published in Mol Cell Proteomics. 2013 Sep 16. This plasmid is available through Addgene.
Plasmid EBA181-bio from Dr. Gavin Wrights lab contains the insert Codon-optimised EBA181 and is published in Mol Cell Proteomics. 2013 Sep 16. This plasmid is available through Addgene.
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Epidermolysis Bullosa Simplex Symptom Checker: Possible causes include Hereditary Renal Cell Carcinoma & Epidermolysis Bullosa & Dystrophic Epidermolysis Bullosa. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
The outlook for EB can vary widely depending on the type and variant of EB a child has.. Epidermolysis bullosa simplex (EBS) carries a low risk of causing serious complications. However, it can often be a frustrating condition to live with, as it can interfere with daily activities.. Some cases of dystrophic epidermolysis bullosa (DEB) are mild and cause no serious complications, while others are severe and may affect general health or possibly lead to skin cancer in later life.. The outlook for a very rare type of junctional epidermolysis bullosa (JEB-severe generalised) is poor. Around 40% of children with the condition will not survive the first year of life, and most will not survive more than five years.. ...
Garretts House is dedicated to the support, advice, and education of a genetic skin condition called Epidermolysis Bullosa or EB for short. Currently there is no cure or effective treatment for EB. Please take a moment to learn about EB, and how you can support others who struggle with EB everyday. Garretts House also honors the memory of those who lost their brave fight against EB. Please check out the Garden of Angel to learn more about the precious butterfly angels ...
Garretts House is dedicated to the support, advice, and education of a genetic skin condition called Epidermolysis Bullosa or EB for short. Currently there is no cure or effective treatment for EB. Please take a moment to learn about EB, and how you can support others who struggle with EB everyday. Garretts House also honors the memory of those who lost their brave fight against EB. Please check out the Garden of Angel to learn more about the precious butterfly angels ...
By: Zama Ngcoya. While albinism is regarded as simply a genetic disorder in the Western world, in African cultures some still believe it is a "curse from the greater forces".. Hlobisile Masinga says that to her it is a genetic skin disorder that makes you "lighter than average individuals".. Masinga (19) from Ematikwe, a small township at Inanda, was diagnosed with albinism when she was born. She had inherited the genetic disorder from her mother, who is also an albino.. She said that in her childhood, she had no understanding of the condition.. "Growing up, all I knew was that the sun hurt my skin and that I had poor vision. No one actually understood me besides my mother, the only other albino in my family, who unfortunately died when I was eight years old," she said.. Masinga also says she was given "special treatment" due to the color of her skin.. "I had people who wanted to shake my hand, give me money or pity me just because I was lighter in complexion. It was annoying at first but as I ...
Monteiro I. P., Gabriel D., Timko B. P., Hashimoto M., Karajanagi S., Tong R., Marques A. P., Reis R. L., and Kohane D. S., A two-component pre-seeded dermal-epidermal scaffold, Acta Biomaterialia, vol. 10, issue 12, pp. 4928-4938, doi:10.1016/j.actbio.2014.08.029, 2014. ...
Monteiro I. P., Gabriel D., Timko B. P., Hashimoto M., Karajanagi S., Tong R., Marques A. P., Reis R. L., and Kohane D. S., A two-component pre-seeded dermal-epidermal scaffold, Acta Biomaterialia, vol. 10, issue 12, pp. 4928-4938, doi:10.1016/j.actbio.2014.08.029, 2014. ...
Epidermolysis Bullosa News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.. ...
Given that the lesions had practically remitted with dapsone 200mg/d and that the patient tolerated treatment poorly due to asthenia, the dose was tapered progressively until discontinuation. During this time, the isolated appearance of blisters resolved with potent topical corticosteroids.. Discussion. Anti-p200 pemphigoid is a recently described blistering disease.1,2,5,6 Patients are usually middle-aged adults (,65years) with tense bullae and generalized urticarial pruriginous plaques, with clinical characteristics similar to BP or the inflammatory form of epidermolysis bullosa acquisita (EBA).2,5,6 Mucosal lesions are observed in approximately 20% of cases.2,5,6 The bullae usually resolve without leaving scars or milia.2,5 A high prevalence of psoriasis has been reported.2,5-7 Some cases have been associated with drugs (penicillin) or psoralen and ultraviolet A radiation phototherapy.6,8. Characteristic histopathological findings include presence of subepidermal blisters, accompanied by an ...
Epidermolysis Bullosa is a genetic disorder characterized by a fragility of the epidermis or skin, causing blistering, scarring, and sometimes death.
With the ability to induce rapid and efficient repair of disease-causing mutations, CRISPR/Cas9 technology is ideally suited for gene therapy approaches for recessively and dominantly inherited monogenic disorders. In this study, we have corrected a causal hotspot mutation in exon 6 of the keratin 14 gene (KRT14) that results in generalized severe epidermolysis bullosa simplex (EBS-gen sev), using a double-nicking strategy targeting intron 7, followed by homology-directed repair (HDR). Co-delivery into EBS keratinocytes of a Cas9 D10A nickase (Cas9n), a predicted single guide RNA pair specific for intron 7, and a minicircle donor vector harboring the homology donor template resulted in a recombination efficiency of >30% and correction of the mutant KRT14 allele. Read More ...
Living with butterfly disease requires constant attention and assistance. Even with gentle touch, there is a risk of skin damage and high pain. Learn more and help me.
Important It is possible that the main title of the report Epidermolysis Bullosa is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. ...
Homocysteine metabolism in children and adolescents with epidermolysis bullosa. . Download books free in pdf. Online library with books, university works and thousands of documents available to read online and download.
PROCLAMATION 5581-DEC. 2, 1986 Proclamation 5581 of December 2, 1986. 101 STAT. 2045 4. National Epidennolysis Bullosa Awareness Week, 1986 By the President of the United States of America A Proclamation Epidermolysis bullosa is a group of hereditary, blistering disorders that involves the skin and mucous membranes, especially mucous membranes of the mouth, eye, and gastrointestinal tract. Symptoms of the disease can resemble severe burns and can be very painful and debilitating. The disease can lead to scarring, malnutrition, anemia, and even premature death. As many as 50,000 Americans, most of them children, are affected by epidermolysis bullosa. The disease not only disables people physically and emotionally, it also places a severe financial burden on their families. Basic research is just beginning to reveal the underlying causes of epidermolysis bullosa. Recent developments in biology, biochemistry, pathology, immunology, and genetics are all being employed to study the disease. The main ...
What is it that draws us to want to know more about other people we may meet along the way? Often there is a common interest or bond of some kind. Within the EB community, many parents have taken an otherwise trying facet of their lives and found a way to not only inspire and educate others, but help build a support network. This has been done by simply sharing their story, whether it is by hosting an event in their community and introducing neighbors to what living with EB is all about or proactively reaching out to local media to share their story with a larger audience.. It can be a tough decision on how much we want to share as a family. In my various roles interacting with the EB community, I always strive to be an advocate for families and a supporter in whatever way I can help best, such as directing someone to a resource that I think might be especially helpful to a family. But my role as a mom and as a parent who has lost a child to the devastating disease only motivates me more to ...
This Website Provides Over 10000 Free Medical Books and more for all Students and Doctors This Website the best choice for medical students during and after learning medicine.
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A cross sectional, observational survey to assess levels and predictors of psychological wellbeing in adults with epidermolysis bullosa
BENEFITS: Formulated with a peptide complex which boosts your skin s natural production of 4 different types of collagen which help to reduce the appearance of fine lines and wrinkles, increase elasticity and reinforce the dermal-epidermal junction (DEJ) for improved firmness. Stem cells derived from sustainable Himalayan red rice rejuvenate, firm and smooth the appearance of aging skin for a more youthful look. Stabilized aloe barbadensis leaf juice rich in vitamins, minerals, amino acids and enzymes combined with date seed kernel extract to nourish and protect skin from environmental damage. Paraben- ...
Bela Fund je skupina zapálených ľudí, ktorí zbierajú peniaze pre Ruské deti trpiace Epidermolysis bullosa. Pomôžte im ak môžete! ...
Bela Fund je skupina zapálených ľudí, ktorí zbierajú peniaze pre Ruské deti trpiace Epidermolysis bullosa. Pomôžte im ak môžete! ...
In a preclinical study, researchers at the University of Southern California evaluated whether human Collagen 7 that had been produced in the lab, when applied to mouse skin, could restore the missing protein in the skin and enhance wound healing.. They found that the Collagen 7 applied to the surface of the mouse skin was incorporated stably at the newly formed junction between the dermis and epidermis of healed wounds. It accelerated wound closure by increasing the formation of new epithelium (skin). It also led to reduced scarring and had other positive impacts. ...
Hi,Ive looked through this whole thread, and im not sure if what I have is what yall have...My family moved to houston when I was 5. We had moved from Utah, where there were far less misquotes, so I didnt really know not to scratch the bites. Well I did, and I ended up scratching off the top layer of skin (unknowingly). It turned into a scab, which itched, so I would itch the area, scratching off the top layer of skin in spots around that area. Well all those then turned into their own scabs that itched! This process continued on until my legs from my knees down to my ankles were covered with little scabs that itched like crazy! To help the situation even more (not), I have a genetic skin disease called Epidermalysis Bullosa (webber coccaine, the least intense coccaine). Where basically, from what I understand about it, makes my skin heal incorrectly, making it weaker than the normal skin that I was born with. I still have the same problem today and I just turned 18 a few months ago, but now ...
Ichthyosis is a family of genetic skin disorders characterized by dry, scaling skin that may be thickened or very thin. Ichthyosis affects people of all ages, races and gender. The disease usually presents at birth, or within the first year, and continues to affect the patient throughout their lifetime. What are some of the problems…
Northland Deb Webber Live Shows. Then Deb Webber will walk through the audience, giving spontaneous readings – connecting those chosen with loved ones in spiri
Bay of Plenty Deb Webber Live Shows. Then Deb Webber will walk through the audience, giving spontaneous readings – connecting those chosen with loved ones in spiri
ECHA състави списък на веществата, които е вероятно да отговарят на критериите по приложение III към регламента REACH. Целта е да се подпомогнат регистрантите при определяне дали са приложими намалени изисквания за информация, или е необходимо да предоставят пълния набор информация по приложение VII.. Списъкът е изготвен въз основа на експериментални данни от публично достъпни бази данни и на резултати, получени от (Q)SAR модели. Показателите за опасни токсикологични и екотоксикологични свойства, както и информацията за употреби и друга налична свързана ...
Epidermolysis bullosa (EB) is a general term used to describe a group of rare, inherited skin disorders that cause the skin to become very fragile.
Epidermolysis bullosa (EB) is a general term used to describe a group of rare inherited skin disorders that cause the skin to become very fragile.
Because skin blisters are the initial manifestation of epidermolysis bullosa (EB), patients invariably present to the dermatologist for diagnosis and treatment. However, EB is a systemic disease whose
By : Prof Ncoza. C. Dlova, October 24 2016Posted in: The Mölnlycke Health Care blog. By Prof Ncoza. C. Dlova, Chief Specialist/ HOD, Dermatology Department, Nelson R Mandela School of Medicine, University of KwaZulu-Natal (UKZN). For the general public, epidermolysis bullosa (EB) is not a well-known condition. If recognized at all, some are aware of the term "butterfly children" - referring to children suffering from the condition and the fragility of their skin (said to be as fragile as butterfly wings).. Many children with EB die young and live short lives that are marked by discomfort, pain and other potential side effects (such as infections) as well as the inability to take part in normal childhood activities. Their lives, and that of their families, are affected by the need for constant care, pain management and treatment and often time and financial constraints - daily dressing change regimes are time consuming and the cost of care can be a major burden. EB has no known cure, only ...
We present information on the synthesis of mutant gene products in junctional epidermolysis bullosa patients with laminin-5 defects, coupled with mutation site mapping data, to provide insight into ways that genetic lesions effect gene product function. We found that clinical severity corresponded to the extent of laminin-5 heterotrimer assembly. The hallmark of the most severe form of JEB, H-JEB, is the lack of one of the protein chains needed to assemble laminin-5, causing an absence of the heterotrimer, as shown here for patients G, M, J, and L. The lack of expression could often be traced to the near absence of RNA transcripts (Fig. 3) in the patients we analyzed, several of whom had PTCs. Others have shown that PTCs can cause instability of the RNA ((31), (32), (40)), and the importance of this mechanism in creating the downstream effects of many human genetic diseases needs to be more fully recognized. The H-JEB patients presented have functional null alleles for one of the laminin-5 ...
Mohammadreza Barzegar, Zahra Asadi-kani, Nikoo Mozafari, Hassan Vahidnezhad, Ariana Kariminejad, Parviz Toossi, Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran, International Journal of Dermatology, 2015, 54, 10, ...
Abeona Therapeutics receives orphan drug designation in the European Union for EB-101 gene therapy clinical trial for epidermolysis bullosa.
<img src="/Portals/0/Images/Blog/blog-thumb-skin.jpg" alt="Skin" longdesc="javascript:void(0)" style="width: 60px; height: 45px; float: left; margin-right: 5px; margin-bottom: 5px;" class="feature" />A research team led by pediatric blood and marrow transplantation experts Mark Osborn, Ph.D. and Jakub Tolar, M.D., Ph.D. from the Masonic Cancer Center, University of Minnesota...
Diagnosis Code Q81 information, including descriptions, synonyms, code edits, diagnostic related groups, ICD-9 conversion and references to the diseases index.
A medical team at the Ruhr-Universität Bochums burn unit and the Center for Regenerative Medicine at the University of Modena (Italy) were the first ever to successfully treat a child suffering from extensive skin damage using transplants derived from genetically modified stem cells. The boy is a so-called butterfly child: he suffers from epidermolysis bullosa, a genetic skin disease that had destroyed approximately 80 percent of his epidermis.
Marathon bikers pedalling for a good cause! Butterfly Children live in pain on a daily basis with an incurable illness called epidermolysis bullosa (EB). Even the slightest contact with the skin can lead to blistering and open
Pain is my life. Its my reality. Its my normal." These are the words that haunted me for days after first watching this film about Paul Martinez, a 32-year-old Stanford patient with epidermolysis bullosa (EB). Im used to being moved by films made by my colleague Mark Hanlon, but his latest effort, called "The Butterfly Effect," is …Read More. ...
Ichthyosis is a broad term used to describe a family of rare, genetic skin diseases. The main characteristics of the diseases are dry, thickened and scaly skin, states...
A Review Of oxytocin factor side effects http://oxytocinreviews.com/oxytocin-side-effects/oxytocin-side-effects-a-comprehensive-view/ ...
How is Herlitz form of junctional epidermolysis bullosa (gene disorder) abbreviated? H-JEB stands for Herlitz form of junctional epidermolysis bullosa (gene disorder). H-JEB is defined as Herlitz form of junctional epidermolysis bullosa (gene disorder) very rarely.
MalaCards based summary : Nephropathy with Pretibial Epidermolysis Bullosa and Deafness, is also known as nephrotic syndrome-hearing loss-pretibial epidermolysis bullosa syndrome. An important gene associated with Nephropathy with Pretibial Epidermolysis Bullosa and Deafness is CD151 (CD151 Molecule (Raph Blood Group)). Affiliated tissues include skin and kidney, and related phenotypes are sensorineural hearing impairment and nephropathy ...
Epidermolysis bullosa dystrophica, autosomal dominant (DDEB) and autosomal recessive (RDEB) - Inherited epidermolysis bullosa (EB) is a clinically and genetically heterogeneous group of mechanobullous disorders characterized by fragility of the skin with recurrent blister formation. EB can be divided into 4 major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. Dystrophic EB is distinguished by blisters that form below the lamina densa of the basement membrane within the upper dermis. The blisters affect both the skin and the mucous membranes and heal with milia formation and scarring. Additionally, nail dystrophy is a common feature of DEB. Patients with autosomal dominant DEB (DDEB; MIM 131750) usually have dystrophic nails and mild blistering of the hands, feet, knees, and elbows; however, in some cases dystrophic nails are the only clinical feature. Autosomal recessive DEB (RDEB; MIM 226600) tends to be more severe with widespread blistering and in the ...
We report an infant with Herlitz junctional epidermolysis bullosa (JEB) presenting at birth with erosions on the scalp, thigh and periumbilical area in addition to nail abnormalities. Ultrastructural studies demonstrated a split through the lamina lu
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In some RA patients antibodies are formed that target collagen II, an important protein in joint cartilage. These antibodies drive the inflammation early in the disease and the highest amounts of collagen antibodies have been detected at the time of diagnosis, after which the levels decrease during the first year.. In the present paper researchers at the Department of Immunology, Genetics and Pathology, Uppsala University, in collaboration with colleagues at Karolinska Institutet, have followed a large group of RA patients during five years to see if there is a correlation between the collagen antibodies and disease development.. We found that patients with collagen antibodies showed increased signs of inflammation during the first six months after diagnosis, after this there was no difference compared to patients without any collagen antibodies. We also discovered that the presence of collagen antibodies at the time of diagnosis was associated with a better prognosis, says Vivek Anand Manivel, ...
As we age, our skin is affected by two main factors, chronological and photo aging. Chronological aging refers to irreversible genetic changes which include the thinning of the epidermis and dermis and a loss of skin elasticity. Photoaging is the result of changes in gene expression contributed by external factors such as sun exposure, smoke, and pollution. Photoaging results in the degradation of collagen and elastin fibers and makes its appearance in the form of coarse, dry skin, deep wrinkles, sagginess, superficial veins and lesions, and dyschromia.. Using the Skin Rejuvenation (SR) application, Trios™ addresses these various symptoms by emitting concentrated flashes of light to targetspecific chromophores and cells (melanin, hemoglobin and fibroblast cells). Pulses of light ignite a micro-trauma in the dermal-epidermal junction, initiating a natural healing process working from the inside out. This process increases blood flow to the treatment area and shortens and contracts fibrils that ...
A child with Epidermolysis Bullosa (EB) is afflicted with a type of inherited skin disorder that causes blisters after even the mildest trauma. Most commonly, EB causes blisters on the skin, but EB can also affect the mouth, esophagus, lungs, muscles, eyes, nails and teeth. Depending on the type of EB, the effects of the…
Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa.. J Invest Dermatol. 2010 Nov;130(11):2680-3. Authors: Hobbs RP, Han SY, van der Zwaag PA, Bolling MC, Jongbloed JD, Jonkman MF, Getsios S, Paller AS, Green KJ. PMID: 20613772 [PubMed - indexed for MEDLINE]. ...
Day +235: We received news we prayed we wouldnt hear, but we heard it. The boost did not help Kiira and her numbers are lower than ever. The CD3 (T cells) are 36% donor and the other cells, CD15, remained 0% donor (ideally, these numbers would be 100%). The biopsies are still in progress, but with so little donor cells I dont expect to see much, if any Collagen VII. I dont know what the next steps are, if there are any. To say Im disappointed that she is losing her bone marrow transplant, my only hope medically, is an understatement, and theres so much more to say, but for now, I need to have a long talk with God.. ...
Most of PeDRAs research takes place within one of five collaborative working groups - Birthmarks, Inflammatory Skin Disease, Genetic Skin Disorders, Neonatal Skin Care, and Skin Tumors and Reactions to Cancer Therapies (STARC). Each working group consists of dozens of clinician scientists, working under the guidance of one or more leaders to identify novel research ideas, advance our understanding of childhood skin diseases, and identify the best ways to improve the lives of patients and their families. PeDRA is able to leverage the strength of these working groups to identify and pursue cross-cutting studies that address high priority research questions spanning many different pediatric skin diseases. ...
Indeed i believe alot of histologists would slip through the cracks in a histo-census. (if you wanted to count both research and clinical labs). I work in a research lab (Dermatology Dept)- and I am an histologist. I embed tissue in paraffin, i run immunohistochemistry experiments, etc... My official title is Electron Microscopy Technician. But, since i was hired on, my duties have shifted. Also, since Im a research technician that performs histological duties, am i considered an histologist? We occasionally do clinical work (diagnose genetic skin disorders), but mostly we are a research lab (investigating the mechanisms of wound healing.) Lara Lara Muffley Dermatology Dept University of Washington Seattle, WA [email protected] On Thu, 30 Aug 2001, Cheryl Crowder wrote: > Its an interesting subject - how many histotechs in the world. I think > one would never find the answer. I am a histotech - for over 30 years. > When I came to Louisiana, I was hired through State Civil ...
Friday, 26 January 2018, 13:00Add to calendarESX type VII secretion key to mycobacterial host-pathogen interaction Roland Brosch, Institut Pasteur, Integrated Mycobacterial Pathogenomics Unit, 25 Rue du Dr Roux, 75015 Paris, FranceHost: Matthias WilmannsSeminar Room 48e, EMBL Hamburg ...
... (composed largely of type VII collagen) extend from the basal lamina of epithelial cells and attach to the ... Keene, Douglas R.; Sakai, Lynn Y.; Lunstrum, Gregory P.; Morris, Nicholas P.; Burgeson, Robert E. (1987). "Type VII collagen ... Burgeson, Robert E. (1993). "Type VII Collagen, Anchoring Fibrils, and Epidermolysis Bullosa". Journal of Investigative ... Correlation with Type VII Collagen Expression". Journal of Investigative Dermatology. 100 (4): 366-72. doi:10.1111/1523-1747. ...
COL7A1: Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive) ... This type of ideogram is generally used in genome browsers (e.g. Ensembl, UCSC Genome Browser). ... FRA3A encoding protein Fragile site, aphidicolin type, common, fra(3)(p24.2). *FRMD4B encoding protein FERM domain containing ... ZBED2: encoding protein Zinc finger BED-type containing 2. *ZNF9: zinc finger protein 9 (a cellular retroviral nucleic acid ...
... within the human COL7A1 gene encoding the protein type VII collagen (collagen VII).[11] DEB-causing mutations can be either ... Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes". Journal of Medical Genetics. 44 (3 ... There are 54 known keratin genes-of which 28 belong to the type I intermediate filament genes and 26 to type II-which work as ... EB is due to a mutation in at least one of 18 different genes.[1] Some types are autosomal dominant while others are autosomal ...
"Laminin 5 binds the NC-1 domain of type VII collagen". The Journal of Cell Biology. 138 (3): 719-28. doi:10.1083/jcb.138.3.719 ... Laminins function as heterotrimeric complexes of alpha, beta, and gamma chains, with each chain type representing a different ... collagens I, III, IV, c-myc and p53". Archives of Oral Biology. 46 (6): 545-55. doi:10.1016/S0003-9969(01)00014-0. PMID ... 23 (6): 742-7. doi:10.1165/ajrcmb.23.6.4202. PMID 11104726. Parsons SF, Lee G, Spring FA, Willig TN, Peters LL, Gimm JA, Tanner ...
... within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). DEB-causing mutations can be either ... In the absence of mutations of the COL7A1 gene, an autoimmune response against type VII collagen can result in an acquired form ... Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes". Journal of Medical Genetics. 44 (3 ... which are not related to type VII collagen deficiency. These arise from mutations in the genes encoding other proteins of the ...
Human type VII collagen gene is found within this region in chromosome region 3p21.1. It is reasonable to believe that the ... a region containing human type VII collagen gene. Larsen syndrome has recently been described as a mesenchyme disorder that ... abnormalities and cardiac anomalies associated with Larsen syndrome are related to the fact that the human type VII collagen ...
Genetic linkage of the inheritance of the disease points to the region of chromosome 3 near the collagen, type VII, alpha 1 ... a glycine substitution mutation in the type VII collagen gene". American Family Physician. 106 (6): 1340-2. PMID 8752681. ...
1997). "Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix ... 141 (7): 1675-84. doi:10.1083/jcb.141.7.1675. PMC 2133008 . PMID 9647658. Ettner N, Göhring W, Sasaki T, et al. (1998). "The N- ...
Lapiere JC, Chen JD, Iwasaki T, Hu L, Uitto J, Woodley DT (Nov 1994). "Type VII collagen specifically binds fibronectin via a ... An in vitro study with native collagen demonstrated that fibronectin binds to type III collagen rather than other types. Plasma ... Fetal fibronectin Fibronectin type I domain Fibronectin type II domain Fibronectin type III domain Monobody, an engineered ... domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin ...
These collagenases digest Type-I collagen, Type-II collagen, Type-III collagen, Type-VII collagen and Type-X collagen. The ... one digesting Type-IV collagen and one digesting gelatin. The embryo differs from the cells of the mother, and would be ... As these trophoblast cells penetrate, they differentiate to become a new type of cells, syncytiotrophoblast. The prefix syn- ... With some disparity between sources, it has been stated to occur from 7 days after ovulation until 9 days after ovulation, or ...
Staining with anti-type IV collagen antibodies or anti-type VII collagen antibodies reveals bright, thick bands at the ... altered collagen or elastic tissue. Urbach-Wiethe disease is typically diagnosed by its clinical dermatological manifestations ... Acta Otorhinolaryngol Ital 26:162-7 James, William D.; Berger, Timothy G.; et al. (2006). Andrews' Diseases of the Skin: ... What syndrome is this? Urbach-Weithe syndrome (lipoid proteinosis). Pediatric Dermatology 22:266-7 Thornton HB, Nel D, Thornton ...
Other (Type VI, VII, XIII). Elastin[edit]. Elastins, in contrast to collagens, give elasticity to tissues, allowing them to ... Each type of connective tissue in animals has a type of ECM: collagen fibers and bone mineral comprise the ECM of bone tissue; ... Collagen[edit]. Collagens are the most abundant protein in the ECM. In fact, collagen is the most abundant protein in the human ... The collagen can be divided into several families according to the types of structure they form: *Fibrillar (Type I, II, III, V ...
RDEB is caused by mutations in the COL7A1 gene which results in the reduction or loss of type VII collagen in the skin. One of ... To this end, NFB has developed collagen-based nano-textured scaffolds with structural, physical and biological properties ... drug delivery using a wide range of clinically relevant materials including naturally occurring biopolymers such as collagen, ...
... domains at the C-termini of the alpha-1 and alpha-3 chains of type VI and type VII collagens; tissue factor pathway inhibitor ... "Anisotropic behaviour of the C-terminal Kunitz-type domain of the alpha3 chain of human type VI collagen at atomic resolution ( ... The type example for this family is BPTI (or basic protease inhibitor), but the family includes numerous other members, such as ... Examples of Kunitz-type protease inhibitors are aprotinin (bovine pancreatic trypsin inhibitor, BPTI), Alzheimer's amyloid ...
... which consist of type VII collagen. Stevens-Johnson syndrome and toxic epidermal necrolysis are diseases where there is a ...
1999). "NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin- ... collagens I, III, IV, c-myc and p53". Arch. Oral Biol. 46 (6): 545-55. doi:10.1016/S0003-9969(01)00014-0. PMID 11311202. ... 6 (3): 293-7. doi:10.1038/ng0394-293. PMID 8012393. Aberdam D, Galliano MF, Vailly J, et al. (1994). "Herlitz's junctional ... 50 Suppl 2: 7-14. doi:10.1159/000053118. PMID 9721586. Chen M, Marinkovich MP, Jones JC, et al. ( ...
1999). "NC1 domain of type VII collagen binds to the beta3 chain of laminin 5 via a unique subdomain within the fibronectin- ... 1996). "Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa". Hum. Mol. ... 1995). "Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in ... Mutations in LAMB3 have been identified as the cause of various types of epidermolysis bullosa. Two alternatively spliced ...
Lapiere, J C; Chen J D, Iwasaki T, Hu L, Uitto J, Woodley D T (November 1994). "Type VII collagen specifically binds ... domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin ... Pokazano je da fibronektin stupa u interakcije sa kolagenom, tip VII, alfa 1,[13][14] TRIB3,[15] lipoproteinom (a),[16] ... Cartil. (England) 10 (7): 556-63. ISSN 1063-4584. PMID 12127836. doi:10.1053/joca.2002.0791. Cite uses deprecated parameter , ...
... is a chronic subepidermal blistering disease associated with autoimmunity to type VII collagen ...
... genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen ... or assembly of type II or type XI collagen. Defective collagen molecules or reduced amounts of collagen affect the development ... These genes are involved in the production of type II and type XI collagen. Collagens are complex molecules that provide ... A metabolic defect concerning the hyaluronic acid and the collagen of the 2-d type is assumed to be the cause of this syndrome ...
... cleaves collagen type I, II, III, VII and X. Therefore, tenascin C over-expression can significantly alter collagen in the ECM ... MMP-19 cleaves components of the basal lamina such as collagen type IV, laminin 5, nidogen (entactin) and other ECM proteins ... Such therapies, targeted to specific cell types, is hoped to be useful in the future to develop better treatments to prevent or ... The "seed and soil" hypothesis states that specific organs harbor metastases from one type of cancer by stimulating their ...
Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth ... down-regulates the expression of type I collagen in fibroblasts of scleroderma patients and yields immunosuppressive effects. ... Effect of Camptothecin on Collagen Synthesis in Fibroblasts From Patients With Keloid. Annals of Plastic Surgery July 2009 - ... on collagen synthesis in fibroblasts from patients with systemic sclerosis". Arthritis research 3 (5): 311-8. doi:10.1186/ar321 ...
Collagen, type VII, alpha 1 (epidermolysis bullosa, dystrophic, dominant and recessive) CRBN: Cereblon protein DCLK3: ... type V, alpha (long QT syndrome 3) SETD5: SET domain containing 5 SFMBT1: Scm-like with four mbt domains 1 SLC25A20: solute ... nonpolyposis type 2 (E. coli) MYRIP: Myosin VIIA and Rab interacting protein NBEAL2: Neurobeachin-like 2 NKTR: NK-tumor ... zinc finger MYND-type containing 10 ZNF502: encoding protein Zinc finger protein 502 ZNF621: encoding protein Zinc finger ...
This enzyme catalyses the following chemical reaction Cleavage of gelatin type I and collagen types IV, V, VII, X. Cleaves the ... 72 kDa gelatinase type A, collagenase IV, collagenase type IV, MMP 2, type IV collagen metalloproteinase, type IV collagenase/ ... "Purification and characterization of a bone metalloproteinase that degrades gelatin and types IV and V collagen". Biochim. ... Gelatinase A (EC 3.4.24.24, 72-kDa gelatinase, matrix metalloproteinase 2, type IV collagenase, 3/4 collagenase, matrix ...
... type IV collagen, (2) anchoring fibrils made of type VII collagen, and (3) dermal microfibrils. Basal lamina James, William; ...
Several types of catenins work with N-cadherins to play an important role in learning and memory (For full article, see ... Spivey KA, Chung I, Banyard J, Adini I, Feldman HA, Zetter BR (October 2011). "A role for collagen XXIII in cancer cell ... For instance, higher levels of collagen XXIII have been associated with higher levels of catenins in cells. These heightened ... levels of collagen helped facilitate adhesions and anchorage-independent cell growth and provided evidence of collagen XXIII's ...
... within the human COL7A1 gene encoding the protein type VII collagen (collagen VII). DEB-causing mutations can be either ... In the absence of mutations of the COL7A1 gene, an autoimmune response against type VII collagen can result in an acquired form ... Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes". Journal of Medical Genetics. 44 (3 ... which are not related to type VII collagen deficiency. These arise from mutations in the genes encoding other proteins of the ...
COL18A1, KNO, KNO1, KS, Collagen, type XVIII, alpha 1, collagen type XVIII alpha 1, collagen type XVIII alpha 1 chain. ... This gene encodes the alpha chain of type XVIII collagen. This collagen is one of the multiplexins, extracellular matrix ... 2002). "Epitope-defined monoclonal antibodies against multiplexin collagens demonstrate that type XV and XVIII collagens are ... "Cloning of cDNA and genomic DNA encoding human type XVIII collagen and localization of the alpha 1(XVIII) collagen gene to ...
... a minor fibrillar collagen. It is located on chromosome 6 very close to but… ... This gene encodes one of the two alpha chains of type XI collagen, ... Background of Collagen type XI alpha 2 chain antibody. This gene encodes one of the two alpha chains of type XI collagen, a ... Type XI collagen is a heterotrimer but the third alpha chain is a post-translationally modified alpha 1 type II chain. ...
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