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.
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.
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).
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 characterized by excessive dermatan and heparan sulfates in the urine and Hurler-like features. It is caused by a deficiency of beta-glucuronidase.
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.
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.
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.
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.
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.
A fibrillar collagen found predominantly in CARTILAGE and vitreous humor. It consists of three identical alpha1(II) chains.
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.
A family of structurally related collagens that form the characteristic collagen fibril bundles seen in CONNECTIVE TISSUE.
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.
A biosynthetic precursor of collagen containing additional amino acid sequences at the amino-terminal and carboxyl-terminal ends of the polypeptide chains.
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.
A fibrillar collagen found primarily in interstitial CARTILAGE. Collagen type XI is heterotrimer containing alpha1(XI), alpha2(XI) and alpha3(XI) subunits.
The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.
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.
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.
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.
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.
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.
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).
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.
Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.
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 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.
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.
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.
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.
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.
Visible accumulations of fluid within or beneath the epidermis.
A non-fibrillar collagen found primarily in terminally differentiated hypertrophic CHONDROCYTES. It is a homotrimer of three identical alpha1(X) subunits.
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.
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.
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.
A hydroxylated form of the imino acid proline. A deficiency in ASCORBIC ACID can result in impaired hydroxyproline formation.
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.
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 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.
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)
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.
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.
Tissue that supports and binds other tissues. It consists of CONNECTIVE TISSUE CELLS embedded in a large amount of EXTRACELLULAR MATRIX.
Genes that influence the PHENOTYPE only in the homozygous state.
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.
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.
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 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.
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.
Any pathological condition where fibrous connective tissue invades any organ, usually as a consequence of inflammation or other injury.
Glycoproteins which have a very high polysaccharide content.
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.
Polymorphic cells that form cartilage.
The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.
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)
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.
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.
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)
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.
Partial proteins formed by partial hydrolysis of complete proteins or generated through PROTEIN ENGINEERING techniques.
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.
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.
Proteins prepared by recombinant DNA technology.
Enzymes that catalyze the degradation of collagen by acting on the peptide bonds.
Adherence of cells to surfaces or to other cells.
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.
A hydroxylated derivative of the amino acid LYSINE that is present in certain collagens.
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.
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.
The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.
Antibodies that react with self-antigens (AUTOANTIGENS) of the organism that produced them.
The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.
Histochemical localization of immunoreactive substances using labeled antibodies as reagents.
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.
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 in which a polyacrylamide gel is used as the diffusion medium.
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.
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.
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.
Basic glycoprotein members of the SERPIN SUPERFAMILY that function as COLLAGEN-specific MOLECULAR CHAPERONES in the ENDOPLASMIC RETICULUM.
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.
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.
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 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.
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.
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.
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.
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.
Established cell cultures that have the potential to propagate indefinitely.
Tumor or cancer of the MALE GENITALIA.
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.
The process whereby PLATELETS adhere to something other than platelets, e.g., COLLAGEN; BASEMENT MEMBRANE; MICROFIBRILS; or other "foreign" surfaces.
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.
Restoration of integrity to traumatized tissue.
Elements of limited time intervals, contributing to particular results or situations.
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.
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 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.
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.
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.
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.
A family of structurally-related short-chain collagens that do not form large fibril bundles.
Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.
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.
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-producing structures that are embedded in the DERMIS. Each gland consists of a single tube, a coiled body, and a superficial duct.
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.
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)
One or more layers of EPITHELIAL CELLS, supported by the basal lamina, which covers the inner or outer surfaces of the body.
A secreted endopeptidase homologous with INTERSTITIAL COLLAGENASE, but which possesses an additional fibronectin-like domain.
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.
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.
The lamellated connective tissue constituting the thickest layer of the cornea between the Bowman and Descemet membranes.
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.
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)
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 produced by a single clone of cells.
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).
Activated form of factor VII. Factor VIIa activates factor X in the extrinsic pathway of blood coagulation.
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.
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.
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.
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 ...
RDEB cells. Fibroblasts from four unrelated COL7A1 mutant type VII collagen-deficient RDEB patients (3) fulfilling clinical, immunohistological, ultrastructural, and genetic criteria for the disease (11) were grown as described (1). Integrase-based stable integration of the type VII collagen expression plasmid, pCOL7A1, was performed by cotransfecting fibroblasts with a φC31 integrase-encoding plasmid and pCOL7A1 as described (3). For selection, 3 days after transfection, cells were subjected to 10 days of blasticidin (4 μg/ml) in culture media to yield cells overexpressing type VII collagen (RDEB+ cells). Type VII collagen expression was verified by immunofluorescence microscopy and immunoblot analysis using antibodies to human type VII collagen (Calbiochem-Novabiochem Corp., San Diego, California, USA).. Animal studies. For fibroblast injection into mouse skin, 6-week-old athymic nude and CB.17 scid/scid mice were injected intradermally with 106 fibroblasts resuspended in 100 μl PBS using a ...
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4. Molecularly confirmed diagnosis of moderate to severe RDEB. If the patient is completely collagen VII-deficient, as shown by negative collagen VII immunofluorescence staining of a skin biopsy, no genetic confirmation of the diagnosis will be required for inclusion in the study. In case of residual collagen VII expression, the COL7A1 gene will be analyzed for mutations, to confirm the diagnosis of RDEB ...
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TY - JOUR. T1 - miR-145-5p regulates fibrotic features of recessive dystrophic epidermolysis bullosa skin fibroblasts. AU - Condorelli, A G. AU - Logli, E. AU - Cianfarani, F. AU - Teson, M. AU - Diociaiuti, A. AU - El Hachem, M. AU - Zambruno, G. AU - Castiglia, D. AU - Odorisio, T. N1 - This article is protected by copyright. All rights reserved.. PY - 2019/11. Y1 - 2019/11. N2 - BACKGROUND: Recessive dystrophic epidermolysis bullosa (RDEB) is a skin fragility disorder caused by mutations in the COL7A1 gene encoding type VII collagen, a cutaneous basement membrane component essential for epidermal-dermal adhesion. Hallmarks of the disease are unremitting blistering and chronic wounds with severe inflammation and fibrosis. microRNAs are post-transcriptional regulators of gene expression also implicated in fibrotic processes. However, the role of microRNAs in RDEB fibrosis is almost unexplored.OBJECTIVES: Our study aimed at identifying microRNAs deregulated in primary RDEB skin fibroblasts ...
TY - JOUR. T1 - Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. AU - Wong, Tracy AU - McGrath, J.A.. AU - Gammon, L.. AU - Leigh, I.M.. AU - Navsaria, H.. AU - Liu, L.. AU - Dopping-Hepenstal, P.J.C.. AU - Pacy, John. AU - Mellerio, J.E.. AU - Elia, George. AU - Jeffery, R.. N1 - MEDLINE® is the source for the MeSH terms of this document.. PY - 2008. Y1 - 2008. N2 - Recessive dystrophic epidermolysis bullosa (RDEB) is a severe inherited skin-blistering disorder caused by mutations in the COL7A1 gene that lead to reduced type-VII collagen and defective anchoring fibrils at the dermal-epidermal junction (DEJ). Presently there are no effective treatments for this disorder. Recent mouse studies have shown that intradermal injections of normal human fibroblasts can generate new human type-VII collagen and anchoring fibrils at the DEJ. To assess potential clinical benefits in humans, we gave single intradermal injections of allogeneic fibroblasts to five subjects ...
Fingerprint Dive into the research topics of High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion. Together they form a unique fingerprint. ...
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 ...
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 ...
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. ...
In Phase I, a target of three adult subjects will be enrolled into Group A and a target of three adult subjects will be enrolled into Group B.. In Phase II the study will target enrolling subjects (aged seven (7) or older) to each arm, but will allow a disproportionate distribution of subjects between Group A and Group B to equal approximately 6 total subjects.. All subjects will receive FCX-007 into intact skin as well as to one or more paired target wounds at least one time during the study with a possible second administration pending laboratory results.. One wound in each target wound pair will be used as control for efficacy and safety evaluations. FCX-007 administered wounds will be compared within paired target wounds to untreated wounds. ...
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 ...
Although a host of intracellular signals is known to contribute to wound healing, the role of the cell microenvironment in tissue repair remains elusive. Here we employed 2 different mouse models of genetic skin fragility to assess the role of the basement membrane protein collagen VII (COL7A1) in w …
Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Collagen Type VII (COL7) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates and other biological fluids with no significant corss-reactivity with analogues from other species ...
About the clinical trial:. This study is investigating the safety, tolerability, and efficacy of an investigational treatment called PTR-01 (type VII collagen protein). PTR-01 is an investigational product given by intravenous infusion over 1 hour. This study has been active since early 2019 and has currently enrolled 9 patients.. Patients enrolled in the study are given 3 infusions of PTR-01 (or placebo), followed by 3 doses of placebo (or PTR-01). All subjects will receive both PTR-01 and placebo.. This study involves blood and urine samples and does require skin biopsies. An earlier version of this study required more skin biopsies, but the Sponsor has recently amended the protocol to reduce the number of biopsies. The Sponsor has also allowed for one of the visits to be done remotely.. Study visits occur every 2 weeks and require coming to Stanford. There are a total of 6 infusions. The treatment period is 10 weeks. All travel costs, including accomodations and meals, are covered by the ...
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
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 ...
Form of epidermolysis bullosa characterized by trauma-induced, subepidermal blistering with no family history of the disease. Direct immunofluorescence shows IgG deposited at the dermo-epidermal junction.. ...
This is a rare hereditary disease of epithelial, surfaces including skin and mucosa{ref35} caused by a defect in collagen 7. Its most obvious clinical characteristic is a bullous formation in the skin... more
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 ...
This case report finds that anti-type VII collagen autoantibodies can precede the clinical appearance of bullous systemic lupus erythematosus.
AP103 is being developed to treat dystrophic epidermolysis bullosa, a subset of epidermolysis bullosa, where the skin breaks at the merest touch
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 ...
Quality of life and social support: a mixed methods case study of adult living with rare genetic skin conditions. A blog by Sondra Butterworth
FUJIFILM Diosynth Biotechnologies, un leader nel comparto CDMO (Contract Development and Manufacturing Organization), con esperienza acquisita focaliz
... (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. doi:10.1111/1523- ...
Lapiere JC, Chen JD, Iwasaki T, Hu L, Uitto J, Woodley DT (November 1994). "Type VII collagen specifically binds fibronectin ... 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 ...
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- ... doi:10.1016/S0021-9258(17)46714-7. PMID 8360181. Yurchenco PD, Sung U, Ward MD, et al. (1993). "Recombinant laminin G domain ...
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 ...
Autoantibodies directed against a variety of antigens, including BP180, BP230, laminin 332, and type VII collagen may be ... Alpha-6-beta-4 integrin Type VII collagen. In contrast to the target of the N-terminus of BP180 that is located in the ... BPAg2 or type XVII collagen) which are located at the lamina lucida of the basement membrane zone. These antigens play an ... It is the most common type of the pemphigoid group, representing 80% of sub-epidermal immunobullous cases. It is more commonly ...
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 ... 22: 266-7.CS1 maint: multiple names: authors list (link) Thornton HB, Nel D, Thornton D, van Honk J, Baker GA, Stein DJ (2008 ... 11 (7): 833-40. doi:10.1093/hmg/11.7.833. PMID 11929856.CS1 maint: multiple names: authors list (link) Chan I, Liu L, Hamada T ...
This protein can bind to fibrinogen, fibronectin, laminin, collagens types V and VII and integrins alpha-V/beta-1. This protein ... TSP1 contains three type I repeats, only the second two of which have been found to inhibit angiogenesis. The type I repeat ... The protein also contains type II repeats with epidermal growth factor-like homology and type III repeats that contain an RGD ... The type I repeats of TSP1 are capable of inhibiting EC migration in a Boyden chamber assay after a 3-4 hour exposure, whereas ...
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. v t e ... 6 (3): 293-7. doi:10.1038/ng0394-293. PMID 8012393. S2CID 9915709. Aberdam D, Galliano MF, Vailly J, et al. (1994). "Herlitz's ... 50 Suppl 2 (2): 7-14. doi:10.1159/000053118. PMID 9721586. S2CID 72456840. Chen M, Marinkovich MP, Jones JC, et al. ( ...
... 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 ...
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 , ...
Its occurrence in collagen types VI, VII, XII and XIV, the integrins and other proteins by averaged structure predictions". J. ... Collagen, type I, alpha 1 (COL1A1) Collagen, type II, alpha 1 (COL2A1) Collagen, type III, alpha 1 (COL3A1) Collagen, type V, ... collagen types VI, VII, XII and XIV; and other extracellular proteins. Although the majority of VWA-containing proteins are ... "Type A modules: interacting domains found in several non-fibrillar collagens and in other extracellular matrix proteins". ...
Its occurrence in collagen types VI, VII, XII and XIV, the integrins and other proteins by averaged structure predictions". J. ... collagen types VI, VII, XII and XIV; and other extracellular proteins. Although the majority of vWA-containing proteins are ... Colombatti A, Bonaldo P, Doliana R (1993). "Type A modules: interacting domains found in several non-fibrillar collagens and in ... This type A domain is the prototype for a protein superfamily (InterPro: IPR036465; see also Pfam clan). The vWA domain is ...
Its occurrence in collagen types VI, VII, XII and XIV, the integrins and other proteins by averaged structure predictions". J. ... Von Willebrand factor type D domain (vWD) is an evolutionarilly-conserved protein domain found in, among others, the von ... "The secondary structure of the von Willebrand factor type A domain in factor B of human complement by Fourier transform ... Willebrand factor (vWF). vWF is a large multimeric glycoprotein and it is synthesized by a type of bone marrow cell called ...
... is a chronic subepidermal blistering disease associated with autoimmunity to type VII collagen ...
... 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 ...
A collaborative study with a group at Jefferson Medical College showed mutations in the COL7A1 gene, for type VII collagen, to ... characterize the α1 chain of type V collagen and was also key in the first demonstration that mutations in a type V collagen ... on collagen V genes and on the biosynthesis of type V collagen and on the molecular mechanisms whereby mutations in type V ... "Structural Organization of the Human Type VII Collagen Gene (COL7A1), Composed of More Exons Than Any Previously Characterized ...
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". Biochimica et ... Gelatinase A, also known as MMP2 (EC 3.4.24.24, 72-kDa gelatinase, matrix metalloproteinase 2, type IV collagenase, 3/4 ...
... 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 ...
Atrophic acne scars have lost collagen from the healing response and are the most common type of acne scar (account for ... microspheres with collagen; human and bovine collagen derivatives, and fat harvested from the person's own body (autologous fat ... Many over-the-counter treatments in many forms are available, which are often known as cosmeceuticals.[168] Certain types of ... Ablative lasers (such as CO2 and fractional types) have also been used to treat active acne and its scars. When ablative lasers ...
collagen-containing extracellular matrix. Biological process. • positive regulation of inflammatory response. • positive ... positive regulation of type IV hypersensitivity. • positive regulation of transcription, DNA-templated. • humoral immune ... The western clawed frog appears to have two orthologs, and the sea lamprey has seven.[6] ... 456 (7222): 653-7. Bibcode:2008Natur.456..653M. doi:10.1038/nature07599. PMID 19052627. S2CID 4430083.. PDB: 3D4C​ PDB: 3D4G​ ...
List of human cell types derived from the germ layers. References[edit]. *^ .mw-parser-output cite.citation{font-style:inherit ... COL2A1 collagen disease. *Achondrogenesis *type 2. *Hypochondrogenesis. SLC26A2 sulfation defect. *Achondrogenesis *type 1B ...
The dissolution of collagen depends on time, temperature and environmental pH.[8] At high temperatures, the rate of collagen ... The study of diagenesis in rocks is used to understand the geologic history they have undergone and the nature and type of ... The composite nature of bone, comprising one-third organic (mainly protein collagen) and two thirds mineral (calcium phosphate ... The hydrolytic activity plays a key role in the mineral phase transformations that exposes the collagen to accelerated chemical ...
Type I collagen is present in many forms of connective tissue, and makes up about 25% of the total protein content of the ... Type I Collagen". Journal of Biological Chemistry. 277 (6): 4223-31. doi:10.1074/jbc.M110709200. PMID 11704682.. ... TypesEdit. Connective tissue can be broadly subdivided into connective tissue proper, and special connective tissue.[5][6] ... groups of adipose cells are kept together by collagen fibers and collagen sheets in order to keep fat tissue under compression ...
10% of all dislocations are anterior and this is broken down into superior and inferior types.[32] Superior dislocations ... syndrome is genetically inherited disorder that is thought to affect the encoding of the connective tissue protein's collagen ... the most common type of shoulder dislocation (96-98% of the time) occurs when the arm is in external rotation and abduction ( ... in the ligament of joints.[7] The loosened or stretched ligaments in the joint provide little stability and allow for the joint ...
Both types of plants occur in tropical areas, but only C3 plants occur naturally in colder areas. 12C and 13C occur in a ratio ... Surface hypoplasias record stressors occurring from about one to seven years, or up to 13 years if the third molar is included ... Nitrogen isotopes in bone collagen are ultimately derived from dietary protein, while carbon can be contributed by protein, ... This references the variety of types of labor (e.g., domestic vs. carrying heavy loads) labor that enslaved individuals were ...
Possibly important to basement membrane architecture and tissue development, as a needed catalyst to make collagen IV.[37] ... "Bromine Is an Essential Trace Element for Assembly of Collagen IV Scaffolds in Tissue Development and Architecture". Cell. 157 ... 7] However, as many as twenty-nine elements in total (including hydrogen, carbon, nitrogen and oxygen) are suggested to be used ...
But seven months later, levels had decreased and returned to baseline levels. It was then suggested, the program needed to be ... Data also proposed a decrease in weight gain as a result of increased consumption lessens the risk of developing diabetes type ... Foundation for strong healthy bones and teeth - majority of the calcium consumed as a child is deposited onto collagen bone ... Vitamin A ensures sufficient collagen is produced to build strong healthy bones and other connecting tissues (Deen & Hark, 2007 ...
Type. Appearance (micrograph). Appearance (illustration). Approx. %. in adults. See also:. Blood values. Diameter (μm)[7]. Main ... It rises in response to allergies, parasitic infections, collagen diseases, and disease of the spleen and central nervous ... This type of white blood cell decreased is usually the neutrophil. In this case the decrease may be called neutropenia or ... Types of white blood cells can be classified in standard ways. Two pairs of broadest categories classify them either by ...
There are two types of alveolar epithelial cells - Type 1 pneumocytes represent 90% of the cell surface area, and are easily ... Mice that survive this initial onslaught go on to demonstrate an increase in lung collagen content, and decreased lung ... Type 2 pneumocytes are more resistant to damage, which is important as these cells produce surfactant, transport ions and ... Depending on the type and amount of irritant gas inhaled, victims can experience symptoms ranging from minor respiratory ...
... of which is collagen type 1 and the remaining 10% ground substance, which includes dentine-specific proteins), and 10% water ( ... TypesEdit. There are three types of dentin, primary, secondary and tertiary.[13][14] Secondary dentin is a layer of dentin ... It is of two types, either reactionary, where dentin is formed from a pre-existing odontoblast, or reparative, where newly ... It is unmineralized and consists of collagen, glycoproteins and proteoglycans. It is similar to osteoid in bone and is thickest ...
Types[edit]. General[edit]. Irwin Fridovich and Joe McCord at Duke University discovered the enzymatic activity of superoxide ... insights into heparin and collagen binding". J. Mol. Biol. 388 (2): 310-26. doi:10.1016/j.jmb.2009.03.026. PMID 19289127.. ... Fe and Mn types (which bind either iron or manganese), and the Ni type (which binds nickel). ... In wild-type S. cerevisiae, DNA damage rates increased 3-fold with age, but more than 5-fold in mutants deleted for either the ...
collagen trimer. • proteinaceous extracellular matrix. • extracellular region. • extracellular exosome. • extracellular space. ... 278 (8): 6160-7. doi:10.1074/jbc.M208322200. PMID 12456677.. *. Strausberg RL, Feingold EA, Grouse LH, et al. (2003). " ...
... organelles which are present in many cellular types throughout the human body. The cilia defects adversely affect "numerous ... is a rare genetic disorder of the skeletal dysplasia type. ... COL2A1 collagen disease. *Achondrogenesis *type 2. * ... 7: 125-148. doi:10.1146/annurev.genom.7.080505.115610. PMID 16722803. Retrieved 2008-06-15.. ...
... as healthy collagen replaces the defective collagen with vitamin C repletion. Treatment can be orally or by intramuscular or ... Yamada H, Yamada K, Waki M, Umegaki K (October 2004). "Lymphocyte and plasma vitamin C levels in type 2 diabetic patients with ... including wound healing and collagen synthesis. In humans, vitamin C deficiency leads to impaired collagen synthesis, ... Hydroxylation allows the collagen molecule to assume its triple helix structure, and thus vitamin C is essential to the ...
Work at the Institute for Cell Biology, University of Bonn, showed that a certain type of autophagy, i.e., chaperone-assisted ... Another study demonstrated that skeletal muscle fibres of collagen VI knockout mice showed signs of degeneration due to an ... CMA is significantly different from other types of autophagy because it translocates protein material in a one by one manner, ... the accumulation of damaged organelles in collagen VI deficient muscle fibres was prevented and cellular homeostasis was ...
Two types of PDGFRs have been identified: alpha-type and beta-type PDGFRs.[8] The alpha type binds to PDGF-AA, PDGF-BB and PDGF ... The addition of PDGF at specific time‐points has been shown to stabilise vasculature in collagen‐glycosaminoglycan scaffolds.[ ... Types and classification[edit]. There are five different isoforms of PDGF that activate cellular response through two different ... The receptor for PDGF, PDGFR is classified as a receptor tyrosine kinase (RTK), a type of cell surface receptor. ...
The three main types of hyaluronidases are two classes of eukaryotic endoglycosidase hydrolases and a prokaryotic lyase-type of ... "Testicular hyaluronidase induces tubular structures of endothelial cells grown in three-dimensional collagen gel through a CD44 ... 97 (5): 601-7. doi:10.1002/ijc.10087. PMID 11807784.. *^ Starr CR, Engleberg NC (January 2006). "Role of hyaluronidase in ... 7] The FDA also approved HyQvia (Shire) in late 2014,[8] a form of subcutaneous immunoglobulin (SCIG) that uses Hylenex to ...
TNF can bind two receptors, TNFR1 (TNF receptor type 1; CD120a; p55/60) and TNFR2 (TNF receptor type 2; CD120b; p75/80). TNFR1 ... Tumor necrosis factor (TNF) alpha increases collagen accuulation and proliferation in intestinal myofibrobasts via TNF Receptor ... TNF is primarily produced as a 233-amino acid-long type II transmembrane protein arranged in stable homotrimers.[24][25] From ... TNF was thought to be produced primarily by macrophages,[36] but it is produced also by a broad variety of cell types including ...
Work at the Institute for Cell Biology, University of Bonn, showed that a certain type of autophagy, i.e., chaperone-assisted ... Another study demonstrated that skeletal muscle fibres of collagen VI knockout mice showed signs of degeneration due to an ... There are three main types of autophagy (macroautophagy, microautophagy and Chaperone mediated autophagy), these are mediated ... 15 (7): 741-50. doi:10.1038/ncb2757. PMC 3885611. PMID 23685627.. *^ Itakura E, Kishi C, Inoue K, Mizushima N (December 2008). ...
Collagen IV (ColIV or Col4) is a type of collagen found primarily in the basal lamina. The collagen IV C4 domain at the C- ... Collagen IV is the more common usage, as opposed to the older terminology of "type-IV collagen".[citation needed] Collagen IV ... type IV collagen excretion reflects renal morphological alterations and type IV collagen expression in patients with type 2 ... Type III Procollagen, Type IV Collagen, Laminin, Tissue Inhibitor of Metalloproteinase, or Prolyl Hydroxylase?". Alcoholism: ...
... that is caused by a mutation in one of the three genes coding for type VI collagen.[2] These include COL6A1, COL6A2, and COL6A3 ... Okada M et al (2007) Primary collagen VI deficiency is the second most common congenital muscular dystrophy in Japan. Neurolog ... "Collagen VI related muscle disorders" (PDF). J. Med. Genet. 42 (9): 673-85. doi:10.1136/jmg.2002.002311. PMC 1736127 . PMID ...
Saad, Mohamed (Oct 1994). Low resolution structure and packing investigations of collagen crystalline domains in tendon using ... Kraft and sulfite (also called sulphite) refer to the type of pulping process used to remove the lignin bonding the original ... Instances are collagen[3] family of proteins, tendon, muscle proteins like actin, cell proteins like microtubules and many ...
After CGPD resolves, the skin may return to normal without scarring or may have small atrophic depressions with collagen loss, ... Gianotti-type perioral dermatitis or Facial Afro-Caribbean childhood eruption Specialty. Dermatology. ...
Possibly collagen and/or citrullinated self proteins. Chronic arthritis, inflammation, destruction of articular cartilage and ... Type V hypersensitivity. References[edit]. *^ a b c d e f g Kumar, Vinay; Abbas, Abul K.; Aster, Jon C. (2012-05-01). Robbins ... Type 4 hypersensitivity is often called delayed type hypersensitivity as the reaction takes several days to develop. Unlike the ... Diabetes mellitus type 1[1]. Pancreatic beta cell proteins (possibly insulin, glutamate decarboxylase). Insulitis, beta cell ...
Collagen cross-linking by applying riboflavin topically then shining UV light is a method to slow progression of corneal ... One such organism is Micrococcus luteus (American Type Culture Collection strain number ATCC 49442), which develops a yellow ... "Collagen cross-linking: when and how? A review of the state of the art of the technique and new perspectives". Eye and vision ... 7,8-Dimethyl-10-[(2S,3S,4R)-2,3,4,5-tetrahydroxypentyl]benzo[g]pteridine-2,4-dione ...
Platelet activation (through agonists such as thrombin, Type II collagen and ADP) results in "membrane flipping" where the ... The extracellular region of P-selectin is composed of three different domains like other selectin types; a C-type lectin-like ... a type of glycosaminoglycan (GAG). Its activity in tumor metastasis has been probed by the addition of heparin that functions ... 7 (8): 1277-84. doi:10.1093/hmg/7.8.1277. PMID 9668170.. *^ Pan J, Xia L, McEver RP (April 1998). "Comparison of promoters for ...
ANA type. Target antigen. Sensitivity (%) SLE. Drug-induced LE. Diffuse systemic sclerosis. Limited systemic scleroderma. ... collagen IV, fibronectin and laminin. Binding to these antigens within the kidney could cause inflammation and complement ... 978-0-412-05601-7. .. *^ a b c d e f g h i j k l m n o p q r s t u v w x y z aa ab ac ad ae af ag ah ai aj ak al am an ao ap ... Some ANAs appear in several types of disease, resulting in lower specificity of the test. For example, IgM-rheumatoid factor ( ...
This gene encodes the alpha chain of type VII collagen. The type VII collagen fibril, composed of three identical alpha ... Collagen, type VII, alpha 1 has been shown to interact with Laminin 5 and Fibronectin. Collagen GRCh38: Ensembl release 89: ... of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin ... "Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin". The ...
Type VII collagen induction did not generate anti-type VII collagen autoantibodies in patients blood or skin. CONCLUSION. ... Newly created type VII collagen varied from 20% to 165% of that expressed in normal human skin and persisted for 3 months. ... Primary outcomes were induction of type VII collagen and AFs at the test sites and safety assessment. A secondary outcome ... Gentamicin induces functional type VII collagen in recessive dystrophic epidermolysis bullosa patients. ...
J:12785 Li K, et al., cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid ... Blue cells = expressed in wild-type.. Gray triangles = other expression annotations only. (e.g. absence of expression or data ... Due to maintenance, access to MGI may be intermittent 7:30-8:30 AM EDT Thursday, May 28. ...
Laminin-332 binds collagen type VII (Homo sapiens) * Collagen type VII fibril:Laminin-332 [extracellular region] (Homo sapiens) ... Collagen type VII fibril:Laminin-332 [extracellular region] (Bos taurus) Collagen type VII fibril:Laminin-332 [extracellular ... Collagen type VII fibril:Laminin-332 [extracellular region] (Danio rerio) Collagen type VII fibril:Laminin-332 [extracellular ... Collagen type VII fibril:Laminin-332 [extracellular region] (Mus musculus) Collagen type VII fibril:Laminin-332 [extracellular ...
Shop for NeoCell Super Collagen 6600 mg Type 1 & 3 Dietary Supplement Powder at Ralphs. Find quality health products to add to ...
It is due to mutations in the gene encoding type VII collagen (C7). Using recombinant human C7 (rhC7) purified from human ... The CHO-derived recombinant type VII collagen (CHO-rhC7), similar to FB-rhC7, was secreted as a correctly folded, disulfide- ... Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease ... Publication type, MeSH terms, Substances. Publication type. *Research Support, Non-U.S. Govt ...
Collagen type VII binds collagen type IV (Homo sapiens) * Collagen type IV networks:Collagen type VII fibril [extracellular ... FN1 binds Collagen types I-V, VII (Homo sapiens) * Collagen types I-V, VII [extracellular region] (Homo sapiens) * Collagen ... Collagen degradation (Homo sapiens) * Collagen type VII degradation by MMP1,2,3 (Homo sapiens) * Collagen type VII fibril [ ... Laminin-332 binds collagen type VII (Homo sapiens) * Collagen type VII fibril [extracellular region] (Homo sapiens) * Collagen ...
1978). FN1 conjugates can bind collagen types I through V (Bell & Engvall 1982), VII (Lapiere et al. 1994) and likely others. ... FN1(32-2386):Collagen types I-V, VII [extracellular region] (Homo sapiens) ... Fibronectin (FN1) binds many types of collagen, particularly when denatured (Ingham et al. 1985). A region of fibronectin known ... FN1 binds to aggregating collagen fibres, probably at the sites shown to bind denatured collagen, inhibiting the rate of ...
Collagen Type I & III is 100% pure collagen protein that provides building materials for growth & maintenance of a healthy body ... Buy Collagen Type 1 & 3 Powder 7 oz Powder & other Beauty Care. ... Collagen Type I & III Powder is neutral in taste and specially ... When Collagen Type I & III Powder is taken internally, the body receives the raw materials it needs to supplement the collagen ... Collagen (collagen hydrolysate) is a complex structural protein that maintains From the Manufacturers Label: ...
Shop for Vitacost Advanced Collagen Types 1 & 3 Dietary Supplement at Frys Food Stores. Find quality products to add to your ... While there are more than a dozen types of collagen, 80 to 90 percent of collagen found in the body consists of types 1, 2 and ... Vitacost Advanced Collagen is made from pure type 1 and type 3 collagen proteins that have undergone enzymatic hydrolysis for ... What is Vitacost Advanced Collagen Types 1 & 3?. Vitacost Advanced Collagen Types 1 & 3 supplies 6.6 grams of pure, natural ...
... Domenii publicaţii > ... Immune rabbit IgG bound to the lamina densa of murine skin and immunoblotted type VII collagen. Mice injected with purified IgG ... F(ab)2 fragments of rabbit IgG specific to type VII collagen were not pathogenic. When injected into C5-deficient mice, ... To study the pathogenic relevance of antibodies specific to type VII collagen in vivo, we generated and characterized rabbit ...
Induction of complement-fixing autoantibodies against type VII collagen results in subepidermal blistering in mice. - Cassian ... Induction of complement-fixing autoantibodies against type VII collagen results in subepidermal blistering in mice.. Abstract. ... Epidermolysis bullosa acquisita (EBA) is a bullous skin disease caused by autoantibodies to type VII collagen. In this study, ... All mice developed circulating IgG autoantibodies that recognized type VII collagen and bound to the lamina densa of the dermal ...
Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes ... Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes ...
Super Collagen contains clinically studied NeoCell Collagen™ which supports healthy collagen formation throughout the body. ... 3 Powder 6,600 mg Collagen Type 1 & 3 Hair, Skin, Nails, Joints & Bones* Clinically Tested Neocell Collagen* 92% Had Increased ... As we age, collagen depletion can lead to common signs of aging in the skin, hair, nails, muscles, tendons, ligaments, and ... Using NeoCells technologically advanced hydrolyzation process, large collagen molecules are enzymatically hydrolyzed into ...
Super Collagen Type 1 & 3 powder is a complex structural protein that maintains strength and flexibility throughout the entire ... The Difference Between Collagen Type 1&3 and Collagen Type 2:. Scientific studies show that more than 90% of the collagen found ... Super Collagen utilizes Collagen Types 1&3, which is 90% of the body s total collagen supply and the main collagen constituents ... Types 1&3 by fibroblasts and osteoblasts, Type 2 by chondrocytes. Research has shown that combining Type 1 and Type 2 collagens ...
Clearance rates of circulating and tissue-bound autoantibodies to type VII collagen in experimental epidermolysis bullosa ... Epidermolysis bullosa acquisita (EBA) is a severe autoimmune skin disease characterized by autoantibodies to type VII collagen ... To study clearance rates of circulating and tissue-bound autoantibodies to type VII collagen in experimental EBA. ... Clearance rates of circulating and tissue-bound autoantibodies to type VII collagen in experimental epidermolysis bullosa ...
... and MMP-9 have been associated with the ability of tumor cells to metastasize due to their capacity to degrade type IV collagen ... These results demonstrate that Col-IV regulates the secretion of MMP-9 via a Src and FAK dependent pathway in MCF-7 cells. ... Our results demonstrate that stimulation of MCF-7 cells with Col-IV promoted the secretion of MMP-9, as revealed by gelatin ... Role of DDR1 in the gelatinases secretion induced by native type IV collagen in MDA-MB-231 breast cancer cells. Luis A. Castro- ...
These plaques contain type IV collagen and the carboxyl-terminal domain of type VII collagen. Banded anchoring fibrils extend ... Type VII collagen is one of the newly identified members of the collagen family. A variety of evidence, including ... with monoclonal and monospecific polyclonal antibodies to type VII collagen and with a monoclonal antibody to type IV collagen ... Type VII collagen forms an extended network of anchoring fibrils. D R Keene, D R Keene ...
Buy NeoCell Super Collagen Type 1&3 7 oz now from Natures Source at the lowest prices. Free Canadian Shipping on orders $59.99 ... The Diference Between Collagen Type 1&3 and Collagen Type 2:. Scienti¯ c studies show that more than 90% of the collagen found ... Super Collagen+C™ utilizes Collagen Types 1&3, which is 90% of the bodys total collagen supply and the main collagen ... Types 1&3 by fibroblasts and osteoblasts, Type 2 by chondrocytes. Research has shown that combining Type 1 and Type 2 collagens ...
Find out information about Type-VII collagen. any of a group of proteins found in skin, ligaments, tendons, bone and cartilage ... and other connective tissue connective tissue, supportive tissue widely... Explanation of Type-VII collagen ... collagen. (redirected from Type-VII collagen). Also found in: Dictionary, Thesaurus, Medical.. Related to Type-VII collagen: ... Type-VII collagen , Article about Type-VII collagen by The Free Dictionary https://encyclopedia2.thefreedictionary.com/Type-VII ...
Reactome is pathway database which provides intuitive bioinformatics tools for the visualisation, interpretation and analysis of pathway knowledge.
... which was specific for type VII collagen (COL7), a prominent antigen of the sublamina densa. One year later, he developed ... We reviewed 32 cases of sublamina-densa type LABD with anti-COL7 IgA antibodies thus far reported in the literature to compare ... Sublamina densa-type linear IgA bullous dermatosis with IgA autoantibodies specific for type VII collagen: a case report and ... which was specific for type VII collagen (COL7), a prominent antigen of the sublamina densa. One year later, he developed ...
"Type VII collagen in Alport syndrome",. abstract = "Background. Absence or segmental distribution of the α5(IV) collagen chain ... The distribution of type VII collagen has been studied in 15 skin biopsies (10 from X-AS patients and 5 controls) by means of ... The distribution of type VII collagen has been studied in 15 skin biopsies (10 from X-AS patients and 5 controls) by means of ... The distribution of type VII collagen has been studied in 15 skin biopsies (10 from X-AS patients and 5 controls) by means of ...
This antibody pair contains: ,br,,ul,,li,Collagen Type VII (COL7) capture antibody,,/li,,li, Collagen Type VII (COL7) biotin- ... Collagen Type VII (COL7) Antibody Pair for use in Sandwich ELISA Assay development. ... Anti-Collagen Type VII, Anti-Collagen Type VII antibody, Collagen Type VII antibody, Antibody against Collagen Type VII, Anti- ... VII)chain, Anti-Collagen Alpha-1(VII)chain antibody, Collagen Alpha-1(VII)chain antibody, Antibody against Collagen Alpha-1(VII ...
Autoimmunity against type VII collagen in inflammatory bowel disease. Gheorghe Hundorfean, Markus F. Neurath, Cassian Sitaru ...
Guerra, L., Odorisio, T., Zambruno, G., & Castiglia, D. (2017). Stromal microenvironment in type VII collagen-deficient skin: ... Guerra, L, Odorisio, T, Zambruno, G & Castiglia, D 2017, Stromal microenvironment in type VII collagen-deficient skin: The ... Stromal microenvironment in type VII collagen-deficient skin: The ground for squamous cell carcinoma development. Matrix ... Stromal microenvironment in type VII collagen-deficient skin : The ground for squamous cell carcinoma development. In: Matrix ...
The lack of type VII collagen results in absent anchoring fibrils which may cause the separation of the epidermis from the ... Keywords: COL7A1; Minicircle; Non-viral gene therapy; Recessive Dystrophic Epidermolysis Bullosa (RDEB); Type VII collagen ... Qin, Yue : Non-viral gene delivery by minicircle vector expressing type VII collagen for the treatment of recessive dystrophic ... Non-viral gene delivery by minicircle vector expressing type VII collagen for the treatment of recessive dystrophic ...
Collagen Type VII, Human, NC2 Domain Ordering Information: Catalog # Form Quantity Price 103606PL Purified, lyophilized 100 μg ... Anti-[Collagen Type VII, Human, NC2 Domain] Clone 1036-06. SPECIFICITY:. Collagen Type VII, Human, NC2 Domain ...
Human COL7(Collagen Type VII) ELISA Kit. Human COL7(Collagen Type VII) ELISA Kit. To Order: Contact us. Human Collagen Type VII ... Should the Mouse Collagen Type VII (COL7) ELISA Kit is proven to show malperformance, you will receive a refund or a free ... Should the Mouse Collagen Type VII (COL7) ELISA Kit is proven to show malperformance, you will receive a refund or a free ... The Intra-assay Precision is determined when 3 samples with low, middle and high level of Human Collagen Type VII (COL7) were ...
Serum antibodies to type collagen VII. *Active infection in the area that will undergo injection. ... Presence of collagen VII [ Time Frame: 12 weeks post treatment ]. Level of collagen VII in KB103-administered skin as measured ... Topical KB103 Gene Therapy to Restore Functional Collagen VII for the Treatment of Dystrophic Epidermolysis Bullosa (GEM-1). ... Topical KB103 gel of non-integrating, replication-incompetent HSV-1 expressing the human collagen VII protein ...
  • Super Collagen contains clinically studied NeoCell Collagen™ which supports healthy collagen formation throughout the body. (nutritionexpress.com)
  • NeoCell Super Collagen Type 1 & 3 is a complex structural protein that maintains strength and flexibility throughout the entire body. (advancedalternativescenter.com)
  • Super Collagen utilizes Collagen Types 1&3, which is 90% of the body s total collagen supply and the main collagen constituents in the skin, hair, nails, ligaments, tendons, bones and muscles. (advancedalternativescenter.com)
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  • Super Collagen+C™ tablets and Super Collagen+C™ Pomegranate Liquid are formulated with Vitamin C, which is absolutely essential to collagen formation. (natures-source.com)
  • Super Collagen™ powder is water-soluble, neutral tasting, and mixes easily with water or juice containing Vitamin C, or other Vitamin C supplements are highly recommended. (natures-source.com)
  • Super Collagen™ is made up of the collagen peptides Type 1 & 3 which support collagen in skin, hair, nails, muscles, tendons, ligaments and bones. (vitaminworld.com)
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  • Directions: As a daily dietary supplement, dissolve one scoop of Super Collagen™ Dietary Supplement with one spoon of water or orange juice. (vitaminworld.com)
  • Other Ingredients: Super Collagen™ Type 1&3 derived from pharmaceutical food grade bovine collagen. (vitaminworld.com)
  • Collagen alpha-1(VII) chain is a protein that in humans is encoded by the COL7A1 gene. (wikipedia.org)
  • Our preliminary results suggested that the minicircle-COL7A1 gene vector significantly increased the transfection efficiency and prolonged the expression of type VII collagen in vitro. (ucd.ie)
  • Here we employed 2 different mouse models of genetic skin fragility to assess the role of the basement membrane protein collagen VII (COL7A1) in wound healing. (nih.gov)
  • The COL7A1 gene provides instructions for making a protein called pro-α1(VII) chain that is used to assemble a larger protein called type VII collagen. (medlineplus.gov)
  • The recessive types of dystrophic epidermolysis bullosa (RDEB) result from mutations in both copies of the COL7A1 gene in each cell. (medlineplus.gov)
  • Most of the COL7A1 gene mutations responsible for RDEB-sev gen result in production of abnormally short pro-α1(VII) chains that cannot form type VII collagen. (medlineplus.gov)
  • Mutations in the gene encoding type VII collagen COL7A1 cause recessive dystrophic epidermolysis bullosa (RDEB) an inherited skin blistering condition complicated by frequent aggressive cutaneous squamous cell carcinoma (cSCC). (dundee.ac.uk)
  • Dystrophic epidermolysis bullosa is a group of orphan genetic skin diseases dominantly or recessively inherited, caused by mutations in COL7A1 encoding type VII collagen, which forms anchoring fibrils. (institutimagine.org)
  • Underlying mutations in the DEB phenotype have been detected in the gene encoding type VII collagen (COL7A1), both in the dominant and recessive forms of DEB. (elsevier.com)
  • COL7A1 gene mutations alter the structure or disrupt the production of the type VII collagen subunit protein. (medlineplus.gov)
  • Treatment with EB-101 involves using gene transfer to deliver COL7A1 genes into a patient's own skin cells (keratinocytes) and transplanting them back to the patient to enable normal type VII collagen expression and facilitate wound healing. (globenewswire.com)
  • 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). (jci.org)
  • Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice. (nih.gov)
  • 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. (elsevier.com)
  • Researchers classify dystrophic epidermolysis bullosa into a few major types based on the inheritance pattern and features of the condition. (medlineplus.gov)
  • We then showed that transfection of primary recessive dystrophic epidermolysis bullosa keratinocytes and fibroblasts carrying null mutations in exon 73 and/or 80, with 2'-O-methyl antisense oligoribonucleotides, led to efficient ex vivo skipping of these exons (50-95%) and resulted in a significant level (up to 36%) of type VII collagen re-expression. (institutimagine.org)
  • Finally, one or two subcutaneous injections of antisense oligoribonucleotides at doses ranging from 400 μg up to 1 mg restored type VII collagen expression and anchoring fibril formation in vivo in a xenograft model of recessive dystrophic epidermolysis bullosa skin equivalent. (institutimagine.org)
  • RATIONALE: In animal models, stem cells have been shown to home to the skin and repair the biochemical and structural abnormalities associated with recessive dystrophic epidermolysis bullosa (RDEB) (collagen 7 deficiency). (clinicaltrials.gov)
  • Type VII collagen defects cause recessive dystrophic epidermolysis bullosa (RDEB), a blistering skin disorder often accompanied by epidermal cancers. (clinicaltrials.gov)
  • 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. (nih.gov)
  • Other types of recessive dystrophic epidermolysis bullosa fall along a spectrum referred to as RDEB-generalized and localized (RDEB-gen and -loc). (medlineplus.gov)
  • Another major type of this condition is known as dominant dystrophic epidermolysis bullosa (DDEB). (medlineplus.gov)
  • Mutations that allow a small amount of normal or partially functional type VII collagen to be produced lead to milder forms of the dystrophic epidermolysis bullosa. (medlineplus.gov)
  • Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. (wikipedia.org)
  • Once taken orally, it can produce peptides that stimulate fibroblast cells to produce and reorganize new collagen fibers which, upon bundling, can build the mechanical strength of the connective tissues and strengthen the extracellular matrix. (advancedalternativescenter.com)
  • Collagen is located in the extracellular matrix of connective tissues. (thefreedictionary.com)
  • The classification of an extracellular matrix protein as a collagen is based on the presence of a domain with a distinctive triple-helical conformation. (thefreedictionary.com)
  • Type A modules: interacting domains found in several non-fibrillar collagens and in other extracellular matrix proteins. (ebi.ac.uk)
  • Laminins and collagens are molecules of the extracellular matrix which play particularly crucial roles in epithelial development. (stanford.edu)
  • Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive. (nih.gov)
  • This gene encodes the alpha chain of type VII collagen. (wikipedia.org)
  • It is due to mutations in the gene encoding type VII collagen (C7). (nih.gov)
  • In addition, the silencing effect of the target gene can be decreased with lower immunoreactivity which leads to a long-term expression of type VII collagen. (ucd.ie)
  • Expression of the type VII collagen gene induces the formation of anchoring fibrils composed mainly of collagen type VII. (ingentaconnect.com)
  • We therefore transiently transfected a keratinocyte cell line with the plasmids containing type VII collagen gene promoter located upstream of the luciferase gene. (ingentaconnect.com)
  • We investigated the promoter activity under the presence of flavonoids and we found that Genkwanin up-regulates the transcriptional activation of human type VII collagen gene promoter. (ingentaconnect.com)
  • In this gene transfer trial we plan to biopsy some skin tissue, grow the cells in a skin cell culture (sterile dishes with special fluid that allows cells to grow and multiply) and then infect the cells with a virus that we have genetically engineered to insert the correct type VII collagen gene. (clinicaltrials.gov)
  • The process of inserting the correct type VII collagen gene into cells is called 'gene transfer. (clinicaltrials.gov)
  • The virus is made so that it only delivers the type VII collagen gene and it should not spread to other parts of the body. (clinicaltrials.gov)
  • Mutations in the type III collagen gene, COL3A1, are associated with the most severe forms of Ehlers-Danlos syndrome. (duke.edu)
  • Del'vig A.A., Kukharenko V.I., Grinberg K.N., Debov S.S., Absence of a gene dose effect for collagen type I and III in fibroblasts with trisomy of chromosome 7 from a spontaneously aborted human fetus, Voprosy meditsinskoi khimii, 1983, vol: 29(3), 25-29. (msk.ru)
  • defect in gene regulation or collagen processing? (uva.nl)
  • Although the types differ in severity, their features overlap significantly and they are caused by mutations in the same gene. (medlineplus.gov)
  • This gene provides instructions for making a protein that forms the pieces (subunits) of a larger protein called type VII collagen. (medlineplus.gov)
  • In the trial, gene-corrected EB-101 skin grafts (35 cm 2 each) were transplanted onto six wound sites in each of the seven adult participants (n= 42 sites total) and wounds selected for treatment had been present for a mean of 11.2 years (range: 3-20 years). (globenewswire.com)
  • We analyzed the location of mutations, gene expression levels, and protein chain assembly of the laminin-5 heterotrimer in six JEB patients to determine how the type of genetic lesion influences the pathophysiology of JEB. (rupress.org)
  • 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. (wikipedia.org)
  • Epidermolysis bullosa acquisita involves an autoimmune reaction to this form of collagen. (wikipedia.org)
  • Epidermolysis bullosa acquisita (EBA) is a subepidermal blistering disorder associated with tissue-bound and circulating autoantibodies specific to type VII collagen, a major constituent of the dermal-epidermal junction. (ad-astra.ro)
  • Clearance rates of circulating and tissue-bound autoantibodies to type VII collagen in experimental epidermolysis bullosa acquisita. (curehunter.com)
  • A variety of evidence, including ultrastructural immunolocalization, has previously shown that type VII collagen is a major structural component of anchoring fibrils, found immediately beneath the lamina densa of many epithelia. (rupress.org)
  • Type VII collagen is the main component of anchoring fibrils, structures that are integral to basement membrane homeostasis in skin. (dundee.ac.uk)
  • We previously demonstrated that gentamicin produced functional type VII collagen in RDEB cells harboring nonsense mutations. (jci.org)
  • Topical and intradermal gentamicin suppresses nonsense mutations and induces type VII collagen and AFs in RDEB patients. (jci.org)
  • Mutations to the genes coding for collagen IV lead to Alport syndrome . (wikipedia.org)
  • These mutations alter the structure or disrupt the production of the pro-α1(VII) chain protein, which affects the production of type VII collagen. (medlineplus.gov)
  • Somewhat less severe forms of RDEB, grouped as the generalized and localized types (RDEB-gen and -loc), are caused by other types of mutations. (medlineplus.gov)
  • In many cases, these mutations alter a part of type VII collagen known as the triple helical domain. (medlineplus.gov)
  • Mutations that substitute other amino acids for glycine in this region can disrupt the triple-stranded structure of type VII collagen. (medlineplus.gov)
  • DDEB can also be caused by other types of mutations, particularly changes that affect the folding of type VII collagen. (medlineplus.gov)
  • Mutations that severely reduce or prevent the production of type VII collagen cause RDEB-sev gen. (medlineplus.gov)
  • In the present study, ultrastructural immunolocalization with monoclonal and monospecific polyclonal antibodies to type VII collagen and with a monoclonal antibody to type IV collagen indicates that amorphous electron-dense structures which we term "anchoring plaques" are normal features of the basement membrane zone of skin and cornea. (rupress.org)
  • Absence or segmental distribution of the α5(IV) collagen chain along the epidermal basement membrane (EBM) is diagnostic of X-linked Alport syndrome (X-AS), but the typical morphologic alterations usually observed along the glomerular basement membrane (GBM) are lacking. (elsevier.com)
  • Fluorescence overlay antigen mapping using laser scanning confocal microscopy (FOAM-LSCM) was employed to examine the in vivo bound patient's IgA, which was specific for type VII collagen (COL7), a prominent antigen of the sublamina densa. (escholarship.org)
  • We reviewed 32 cases of sublamina-densa type LABD with anti-COL7 IgA antibodies thus far reported in the literature to compare the clinicopathological characteristics of this rare disease variant and emphasize that COL7 is the main autoantigen in sublamina densa disease. (escholarship.org)
  • Collagen Type VII (COL7) Antibody Pair for use in Sandwich ELISA Assay development. (abbexa.com)
  • Collagen Type VII (COL7) standard. (abbexa.com)
  • Should the Mouse Collagen Type VII (COL7) ELISA Kit is proven to show malperformance, you will receive a refund or a free replacement. (roentgenseifert.com)
  • Description: A sandwich quantitative ELISA assay kit for detection of Mouse Collagen Type VII (COL7) in samples from serum, plasma or other biological fluids. (roentgenseifert.com)
  • Description: This is Double-antibody Sandwich Enzyme-linked immunosorbent assay for detection of Human Collagen Type VII (COL7) in serum, plasma, tissue homogenates, cell lysates, cell culture supernates and other biological fluids. (roentgenseifert.com)
  • Description: Enzyme-linked immunosorbent assay based on the Double-antibody Sandwich method for detection of Human Collagen Type VII (COL7) in samples from serum, plasma, tissue homogenates, cell lysates, cell culture supernates and other biological fluids with no significant corss-reactivity with analogues from other species. (roentgenseifert.com)
  • Intradermal injection of RDEB + fibroblasts delivers human type VII collagen to the murine epidermal-dermal junction. (nih.gov)
  • Skin from mice injected intradermally with the fibroblast types noted at the left of each row of panels was stained with either the NP185 human-specific monoclonal antibody to type VII collagen (red, first column) or rabbit polyclonal antibodies recognizing both mouse and human type VII collagen (green, second column). (nih.gov)
  • Note the presence of human type VII collagen at the cutaneous BMZ in skin injected with RDEB + fibroblasts (top row). (nih.gov)
  • note perifollicular dermal human type VII collagen in dermis injected with RDEB + fibroblasts and with the normal fibroblasts (middle row). (nih.gov)
  • Merged inset (×40) showing skin injected with RDEB + fibroblasts (top row, far right panel) demonstrates the junction of human type VII collagen detection in the BMZ. (nih.gov)
  • Herein, we determined whether topical or intradermal gentamicin administration induces type VII collagen and AFs in RDEB patients. (jci.org)
  • Here, we identify SLCO1B3 expression in tumour keratinocytes isolated from RDEB and UV-induced cSCC and demonstrate that SLCO1B3 expression and promoter activity are modulated by type VII collagen. (dundee.ac.uk)
  • We show that reduction of SLCO1B3 expression upon expression of full-length type VII collagen in RDEB cSCC coincides with acquisition of front-to-rear polarity and increased organisation of 3D spheroid cultures. (dundee.ac.uk)
  • Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model. (institutimagine.org)
  • 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. (nih.gov)
  • The first lane represents RDEB + fibroblasts engineered to overexpress type VII collagen. (nih.gov)
  • b ) Cellular expression of type VII protein expression (green) in engineered (RDEB + ), normal (NL), and uncorrected (RDEB - ) fibroblasts. (nih.gov)
  • Note the lack of BMZ-localized type VII collagen in skin injected with normal fibroblasts (middle row) and its complete absence in skin injected with RDEB - fibroblasts (bottom row). (nih.gov)
  • The RDEB-gen and -loc types involve scarring in the areas where blisters occur, but these forms of the condition do not cause the severe scarring characteristic of RDEB-sev gen. (medlineplus.gov)
  • Because they lack collagen type VII, children with RDEB have skin that is exquisitely delicate. (huliq.com)
  • This is the first time physicians have approached the treatment of RDEB from a systemic perspective, using marrow-derived stem cells as a means to replace the missing protein, collagen type VII, throughout the body. (huliq.com)
  • These long-term follow-up data in seven RDEB participants with 42 treated wounds were published in the peer-reviewed journal JCI Insight . (globenewswire.com)
  • Researchers from Stanford University School of Medicine conducted the Phase 1/2a single-center, open-label clinical trial to evaluate the long-term wound healing and safety of EB-101 in seven adult patients with severe generalized RDEB and to assess patient-reported outcomes following treatment. (globenewswire.com)
  • These plaques contain type IV collagen and the carboxyl-terminal domain of type VII collagen. (rupress.org)
  • When Collagen Type I & III Powder is taken internally, the body receives the raw materials it needs to supplement the collagen found in all of these areas. (puritan.com)
  • Collagen Type I & III Powder is neutral in taste and specially formulated in an easy to take powdered form. (puritan.com)
  • Vitacost Advanced Collagen Types 1 & 3 supplies 6.6 grams of pure, natural collagen in a dissolvable powder that mixes easily with fruit juice for a drinkable supplement. (frysfood.com)
  • This page is your collagen powder one-stop source for the competitive price and quality. (ec21.com)
  • Global collagen powder buyers find suppliers here every day. (ec21.com)
  • All collagen powder Offers/ Products/ Company Profiles/ Images and other contents are posted by the user and EC21 shall not be liable for any such content. (ec21.com)
  • Our pure collagen powder replenishes your body?s declining collagen supply to counter the effects of age. (walmart.com)
  • REPLENISH YOUR BODY?S COLLAGEN: Zint Collagen Peptides powder is a pure anti-aging protein vital for replenishing your body?s declining collagen supply, rejuvenating your skin, hair, nails and joints for natural beauty and youthfulness. (walmart.com)
  • Youtheory Collagen Powder with Biotin and Vitamin C, Natural Vanilla Flavor, 4.7 oz. (walmart.com)
  • Reserveage Nutrition Collagen Replenish Powder - 2.75 oz. (walmart.com)
  • Collagen interacts with cells through the integrin cell receptors and mediates cellular adhesion and migration. (thefreedictionary.com)
  • Hemidesmosomes also contain the intracellular portions of the transmembrane proteins collagen XVII (BP180) and alpha-6-beta-4 integrin. (medscape.com)
  • Collagen XVII is a transmembrane collagenous protein that interacts with alpha-4 integrin and BP230 intracellularly and with laminin-332 extracellularly. (medscape.com)
  • These structures contain the extracellular portions of collagen XVII (BP180) and alpha-6-beta-4 integrin. (medscape.com)
  • The molecule collagen XVII is closely associated with laminin-5 and a6b4 integrin and also is required for tumor invasion. (stanford.edu)
  • transmembrane collagen, interacts with integrin a1b1, fibronectin and components of basement membranes like nidogen and perlecan. (news-medical.net)
  • Using NeoCell's technologically advanced hydrolyzation process, large collagen molecules are enzyematically hydrolyzed into small peptides that are both bioavailable and bioactive in the body. (puritan.com)
  • Then the molecules arrange themselves into long, thin bundles of mature type VII collagen. (medlineplus.gov)
  • When the abnormally shaped collagen molecules are incorporated into anchoring fibrils, they interfere with the fibrils' normal function and prevent them from effectively connecting the epidermis and the dermis. (medlineplus.gov)
  • Disclosed is a soft tissue augmentation material from human placenta homogenized to pass through a surgical needle, preferably a 30 gauge surgical needle, and cross-linking collagen molecules of the material by gamma irradiation. (google.co.uk)
  • These defects often cause problems in the biosynthesis of the collagen molecules, their assembly and posttranslational modification process that makes them their final end form of collagen. (news-medical.net)
  • As this collagen production slows, the collagen fibers in the body become brittle and begin to break down resulting in many of the tell-tale signs of aging, such as loose, flaccid skin, wrinkles, ligament and tendon injuries and osteoarthritis. (advancedalternativescenter.com)
  • This extended network is capable of entrapping a large number of banded collagen fibers, microfibrils, and other stromal matrix components. (rupress.org)
  • The fibroblasts produce three types of fibers to form the ground substance: collagen, elatin, and the reticulum. (thefreedictionary.com)
  • Collagen consists of groups of white inelastic fibers with great tensile strength. (thefreedictionary.com)
  • The collagen IV C4 domain at the C-terminus is not removed in post-translational processing, and the fibers link head-to-head, rather than in parallel. (wikipedia.org)
  • reticulate (main component of reticular fibers ), commonly found alongside type I. (mashpedia.com)
  • This trial will create a skin graft, which the investigators call 'LEAES,' using the patient's own skin cells that have been genetically engineered in the lab to express a missing protein called type VII collagen. (clinicaltrials.gov)
  • The type VII collagen fibril, composed of three identical alpha collagen chains, is restricted to the basement zone beneath stratified squamous epithelia. (wikipedia.org)
  • 1981). Blocking the interaction of FN1 with collagen prevents collagen I fibril formation (McDonald et al. (reactome.org)
  • FN1 fibril assembly and collagen fibril assembly may have common mechanistic elements (Kadler et al. (reactome.org)
  • Type III collagen is found in the walls of arteries and other hollow organs and usually occurs in the same fibril with type I collagen. (news-medical.net)
  • Both human and bovine collagen is widely used as dermal fillers for treatment of wrinkles and skin aging. (mashpedia.com)
  • Many of these genetic changes alter the structure of the pro-α1(VII) chain protein such that it cannot form normal type VII collagen. (medlineplus.gov)
  • Importantly, correct type VII collagen localization was observed at anchoring fibrils. (pharmpro.com)
  • In the skin, the type VII collagen protein is synthesized by keratinocytes and dermal fibroblasts. (wikipedia.org)
  • Each type has different amino acid profiles and is produced by different cells in the body - Types 1&3 by fibroblasts and osteoblasts, Type 2 by chondrocytes. (advancedalternativescenter.com)
  • Collagen production was studied in human embryonal fibroblasts. (msk.ru)
  • This is the collagen of granulation tissue, and is produced quickly by young fibroblasts before the tougher type I collagen is synthesized. (news-medical.net)
  • the purpose of this study was to investigate the modifications of protein synthesis and expression of type VII collagen in the skin of patients with X-AS. (elsevier.com)
  • We suggest that the increased synthesis and deposition of type VII collagen is likely to balance the absence of stabilizing activity normally exerted by α5(IV). (elsevier.com)
  • Synthesis of collagen in the cells with trisomy 7 was decreased 2-fold as compared with diploid cells in spite of 50% increase of the collagen genes localized on the chromosome 7. (msk.ru)
  • At the same time, an increase in synthesis of type I collagen trimer was found in culture of cells with anomalous caryotype. (msk.ru)
  • Stimulates the regeneration process, stimulates the synthesis of collagen and elastin - proteins responsible for young skin appearance. (ebay.co.uk)
  • This group of disorders result from some defect in the synthesis or structure of fibrillar collagen? (studystack.com)
  • As we age collagen depletion can lead to common signs of aging in the skin, harm muscles, tendons, ligaments, and bones. (puritan.com)
  • Collagen dissolved in boiling water becomes denatured to form gelatin gelatin or animal jelly, foodstuff obtained from connective tissue (found in hoofs, bones, tendons, ligaments, and cartilage) of vertebrate animals by the action of boiling water or dilute acid. (thefreedictionary.com)
  • Collagens are a family of proteins that strengthen and support connective tissues, such as skin, bone, tendons, and ligaments, throughout the body. (medlineplus.gov)
  • I got this product because I am pregnant, and I read that collagen is essential building block for a lot of important tissues, such as bones, cartilage, tendons, and ligaments. (iherb.com)
  • Collagen dietary supplements provide the building blocks for producing new collagen to maintain strength and flexibility of skin, vessels, cartilage, bones, joints, ligaments, tendons and more. (nutritionexpress.com)
  • To study the pathogenic relevance of antibodies specific to type VII collagen in vivo, we generated and characterized rabbit antibodies specific to a murine form of this antigen and passively transferred them into adult nude, BALB/c, and C57BL/6 mice. (ad-astra.ro)
  • The alpha-3 subunit (COL4A3) of collagen IV is thought to be the antigen implicated in Goodpasture syndrome , wherein the immune system attacks the basement membranes of the glomeruli and the alveoli upon the antigenic site on the alpha-3 subunit becomes unsequestered due to environmental exposures. (wikipedia.org)
  • The alpha 3 protein constituent of type-IV collagen is thought to be the antigen implicated in goodpasture's syndrome , wherein the immune system attacks the basement membranes of the glomeruli and the alveoli . (wikidoc.org)
  • These changes affect the production of type VII collagen. (medlineplus.gov)
  • At the most inferior aspect of the BMZ, type VII collagen‒containing anchoring fibrils extend from the lamina densa into the papillary dermis, connecting the lamina densa to anchoring plaques, trapping interstitial collagen fibrils. (medscape.com)
  • Collagen, type VII, alpha 1 has been shown to interact with Laminin 5 and Fibronectin. (wikipedia.org)
  • Fibronectin (FN1) binds many types of collagen, particularly when denatured (Ingham et al. (reactome.org)
  • Interaction of fibronectin with C1q and collagen. (reactome.org)
  • Immune rabbit IgG bound to the lamina densa of murine skin and immunoblotted type VII collagen. (ad-astra.ro)
  • [6] [7] This refers to the compound's early use in the process of boiling the skin and tendons of horses and other animals to obtain glue. (mashpedia.com)
  • According to the U.S. National Institutes of Health, collagens are a family of proteins that are part of body tissues, including skin, cartilage and joints. (frysfood.com)
  • Vitacost Advanced Collagen is made from pure type 1 and type 3 collagen proteins that have undergone enzymatic hydrolysis for reduced molecular weight. (frysfood.com)
  • Collagen protein contains an unusually high percentage of the amino acids proline proline , organic compound, one of the 20 amino acids commonly found in animal proteins. (thefreedictionary.com)
  • Each module has homologues in other extracellular mosaic proteins such as Von Willebrand factor, slit, thrombospondins, fibrillar collagens, IGF-binding proteins and mucins. (ebi.ac.uk)
  • Its occurrence in collagen types VI, VII, XII and XIV, the integrins and other proteins by averaged structure predictions. (ebi.ac.uk)
  • The domain is named after the von Willebrand factor (VWF) type C repeat which is found in multidomain protein/multifunctional proteins involved in maintaining homeostasis. (wikipedia.org)
  • This vitamin processes nearly every type of food that you ingest, including carbohydrates, proteins, and fats. (ebay.com)
  • Chapter 7: Type III collagen deficiency in a family with intracranial aneurysms. (uva.nl)
  • Adding collagen to your daily routine will further assist your skin in the fight against wrinkles, sun damages etc from within too, not only from the outer layers of the skin. (iherb.com)
  • Crystal structures of collagen triple helices reported so far contain artificial sequences like (Gly-Pro-Pro)(n) or (Gly-Pro-Hyp)(n). (duke.edu)
  • The looser superhelical structure of the non-imino acid region of collagen triple helices combined with the extra contacts afforded by ionic and polar residues likely play a role in fibrillar assembly and interactions with other extracellular components. (duke.edu)
  • Collagen consists of amino acids wound together to form triple- helices to form of elongated fibrils . (mashpedia.com)
  • Using offspring from mice with experimentally induced EBA, we examined retention times of diaplacentally transmitted autoantibodies to type VII collagen in serum of neonatal mice by enzyme-linked immunosorbent assay and of immunoreactant deposits in skin by direct immunofluorescence microscopy. (curehunter.com)
  • Serum Collagen IV concentrations correlate with hepatic tissue levels of collagen IV in subjects with alcoholic liver disease and hepatitis C and fall following successful therapy. (wikipedia.org)
  • Serum Markers for Hepatic Fibrosis in Alcoholic Liver Disease: Which is the Best Marker, Type III Procollagen, Type IV Collagen, Laminin, Tissue Inhibitor of Metalloproteinase, or Prolyl Hydroxylase? (wikipedia.org)
  • Serum Collagen Type IV for the Assessment of Fibrosis and Resistance to Interferon Therapy in Chronic Hepatitis C". Scandinavian Journal of Gastroenterology . (wikipedia.org)
  • type VII collagen mRNA expression was also measured by RT-PCR on the same skin fragments. (elsevier.com)
  • OATP1B3 expression is limited to the liver in healthy tissues, but is frequently detected in multiple cancer types and is reported to be associated with differing clinical outcome. (dundee.ac.uk)
  • Type VII collagen expression in primary skin cells. (nih.gov)
  • pCOL7A1 is a CMV-driven expression plasmid for type VII collagen () stably transfected using the φC31 integrase. (nih.gov)
  • Results from the initial four patients of the clinical study demonstrated that treatment with EB-101 restored type VII collagen (C7) expression at the dermal-epidermal junction at the graft sites in 90 percent of the biopsy samples at 3 months post-treatment, in 66 percent at 6 months post-treatment, and in 42 percent samples at 12 months post-treatment. (pharmpro.com)
  • Three pro-α1(VII) chains twist together to form a triple-stranded, ropelike molecule known as a procollagen. (medlineplus.gov)
  • Some research has suggested that abnormal forms of type VII collagen that retain a procollagen fragment called the NC1 domain may increase the risk of tumor formation. (medlineplus.gov)
  • TANGO1 (show MIA3 ELISA Kits ) is thus pivotal in concentrating procollagen VII (show TH ELISA Kits ) in the lumen and recruiting ERGIC membranes on the cytoplasmic surface of the endoplasmic reticulum. (antibodies-online.com)
  • In this study, we describe an active disease model of EBA by immunizing mice of different strains with murine type VII collagen . (curehunter.com)
  • We compared the growth of murine ovarian cancer cell-induced tumors in platelet-specific Tgfβ1-deficient mice and wild-type mice. (aacrjournals.org)
  • Liver fibrosis and cirrhosis are associated with the deposition of collagen IV in the liver. (wikipedia.org)
  • Increased glomerular and mesangial deposition of collagen IV occurs in diabetic nephropathy and increased urinary levels are associated with the extent of renal injury. (wikipedia.org)
  • In addition to the above mentioned disorders, excessive deposition of collagen occurs in scleroderma. (news-medical.net)
  • The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. (wikipedia.org)
  • Both topical and intradermal gentamicin administration induced type VII collagen and AFs at the dermal-epidermal junction of treatment sites. (jci.org)
  • The collagen linked diseases commonly arise from genetic defects or nutritional deficiencies. (news-medical.net)
  • There may be defects in collagen secretion and general production as well. (news-medical.net)
  • Collagen-related diseases most commonly arise from genetic defects or nutritional deficiencies that affect the biosynthesis, assembly, postranslational modification, secretion, or other processes involved in normal collagen production. (news-medical.net)
  • We first showed the dispensability of these exons for type VII collagen function in vivo. (institutimagine.org)
  • 100% pure collagen protein that provides building materials for growth and maintenance of a healthy body. (puritan.com)
  • Level of collagen VII in KB103-administered skin as measured by immunofluorescence. (clinicaltrials.gov)