Keratins: A class of fibrous proteins or scleroproteins that represents the principal constituent of EPIDERMIS; HAIR; NAILS; horny tissues, and the organic matrix of tooth ENAMEL. Two major conformational groups have been characterized, alpha-keratin, whose peptide backbone forms a coiled-coil alpha helical structure consisting of TYPE I KERATIN and a TYPE II KERATIN, and beta-keratin, whose backbone forms a zigzag or pleated sheet structure. alpha-Keratins have been classified into at least 20 subtypes. In addition multiple isoforms of subtypes have been found which may be due to GENE DUPLICATION.Keratins, Type II: A keratin subtype that includes keratins that are generally larger and less acidic that TYPE I KERATINS. Type II keratins combine with type I keratins to form keratin filaments.Keratins, Hair-Specific: Keratins that are specific for hard tissues such as HAIR; NAILS; and the filiform papillae of the TONGUE.Keratins, Type I: A keratin subtype that includes keratins that are generally smaller and more acidic that TYPE II KERATINS. Type I keratins combine with type II keratins to form keratin filaments.Keratin-8: A type II keratin found associated with KERATIN-18 in simple, or predominately single layered, internal epithelia.Keratin-1: A type II keratin that is found associated with the KERATIN-10 in terminally differentiated epidermal cells such as those that form the stratum corneum. Mutations in the genes that encode keratin-1 have been associated with HYPERKERATOSIS, EPIDERMOLYTIC.Pachyonychia Congenita: A group of inherited ectodermal dysplasias whose most prominent clinical feature is hypertrophic nail dystrophy resulting in PACHYONYCHIA. Several specific subtypes of pachyonychia congenita have been associated with mutations in genes that encode KERATINS.Keratin-14: A type I keratin that is found associated with the KERATIN-5 in the internal stratified EPITHELIUM. Mutations in the gene for keratin-14 are associated with EPIDERMOLYSIS BULLOSA SIMPLEX.Keratin-10: A type I keratin that is found associated with the KERATIN-1 in terminally differentiated epidermal cells such as those that form the stratum corneum. Mutations in the genes that encode keratin-10 have been associated with HYPERKERATOSIS, EPIDERMOLYTIC.Keratin-12: A type I keratin that is found associated with the KERATIN-3 in the CORNEA and is regarded as a marker for corneal-type epithelial differentiation. Mutations in the gene for keratin-12 have been associated with MEESMANN CORNEAL EPITHELIAL DYSTROPHY.Hyperkeratosis, Epidermolytic: A form of congenital ichthyosis inherited as an autosomal dominant trait and characterized by ERYTHRODERMA and severe hyperkeratosis. It is manifested at birth by blisters followed by the appearance of thickened, horny, verruciform scales over the entire body, but accentuated in flexural areas. Mutations in the genes that encode KERATIN-1 and KERATIN-10 have been associated with this disorder.Epidermolysis Bullosa Simplex: A form of epidermolysis bullosa characterized by serous bullae that heal without scarring. Mutations in the genes that encode KERATIN-5 and KERATIN-14 have been associated with several subtypes of epidermolysis bullosa simplex.Keratin-16: A type I keratin expressed in a variety of EPITHELIUM, including the ESOPHAGUS, the TONGUE, the HAIR FOLLICLE and NAILS. Keratin-16 is normally found associated with KERATIN-6. Mutations in the gene for keratin-6 have been associated with PACHYONYCHIA CONGENITA, TYPE 1.Keratin-18: A type I keratin found associated with KERATIN-8 in simple, or predominately single layered, internal epithelia.Keratin-17: A type I keratin found associated with KERATIN-6 in rapidly proliferating squamous epithelial tissue. Mutations in the gene for keratin-17 have been associated with PACHYONYCHIA CONGENITA, TYPE 2.Keratin-9: A type II keratin found predominantly expressed in the terminally differentiated EPIDERMIS of palms and soles. Mutations in the gene for keratin 9 are associated with KERATODERMA, PALMOPLANTAR, EPIDERMOLYTIC.Keratoderma, Palmoplantar, Epidermolytic: An autosomal dominant hereditary skin disease characterized by epidermolytic hyperkeratosis that is strictly confined to the palms and soles. It has been associated with mutations in the gene that codes for KERATIN-9.Keratin-5: A type II keratin that is found associated with the KERATIN-14 in the internal stratified EPITHELIUM. Mutations in the gene for keratin-5 are associated with EPIDERMOLYSIS BULLOSA SIMPLEX.Intermediate Filaments: Cytoplasmic filaments intermediate in diameter (about 10 nanometers) between the microfilaments and the microtubules. They may be composed of any of a number of different proteins and form a ring around the cell nucleus.Keratin-6: A type II keratin found associated with KERATIN-16 or KERATIN-17 in rapidly proliferating squamous epithelial tissue. Mutations in gene for keratin-6A and keratin-6B have been associated with PACHYONYCHIA CONGENITA, TYPE 1 and PACHYONYCHIA CONGENITA, TYPE 2 respectively.Monilethrix: Rare autosomal dominant disorder of the hair shaft. The clinical features of the disease include HYPOTRICHOSIS, dry, and/or brittle hair, with varying degrees of ALOPECIA. Mutations in the hair-specific keratin genes KRTHB1, KRTHB3, or KRTHB6 are associated with monilethrix. Autosomal recessive monilethrix with limited HYPOTRICHOSIS are also known. Mutations in Dsg4, Liph, and P2ry5 protein genes are associated with the recessive form of monilethrix.Keratoderma, Palmoplantar: Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).Hoof and Claw: Highly keratinized processes that are sharp and curved, or flat with pointed margins. They are found especially at the end of the limbs in certain animals.Potoroidae: A family of rat kangaroos found in and around Australia. Genera include Potorous and Bettongia.Epidermis: The external, nonvascular layer of the skin. It is made up, from within outward, of five layers of EPITHELIUM: (1) basal layer (stratum basale epidermidis); (2) spinous layer (stratum spinosum epidermidis); (3) granular layer (stratum granulosum epidermidis); (4) clear layer (stratum lucidum epidermidis); and (5) horny layer (stratum corneum epidermidis).Keratinocytes: Epidermal cells which synthesize keratin and undergo characteristic changes as they move upward from the basal layers of the epidermis to the cornified (horny) layer of the skin. Successive stages of differentiation of the keratinocytes forming the epidermal layers are basal cell, spinous or prickle cell, and the granular cell.Keratin-13: A type I keratin that is found associated with the KERATIN-4 in the internal stratified EPITHELIUM. Defects in gene for keratin 13 cause HEREDITARY MUCOSAL LEUKOKERATOSIS.Hair: A filament-like structure consisting of a shaft which projects to the surface of the SKIN from a root which is softer than the shaft and lodges in the cavity of a HAIR FOLLICLE. It is found on most surfaces of the body.Keratin-15: A type I keratin found in the basal layer of the adult epidermis and in other stratified epithelia.Microscopy, Electrochemical, Scanning: A scanning probe microscopy technique that uses an ultramicroelectrode as the scanning probe that simultaneously records changes in electrochemical potential as it scans thereby creating topographical images with localized electrochemical information.Hair Diseases: Diseases affecting the orderly growth and persistence of hair.Hair Follicle: A tube-like invagination of the EPIDERMIS from which the hair shaft develops and into which SEBACEOUS GLANDS open. The hair follicle is lined by a cellular inner and outer root sheath of epidermal origin and is invested with a fibrous sheath derived from the dermis. (Stedman, 26th ed) Follicles of very long hairs extend into the subcutaneous layer of tissue under the SKIN.Skin: The outer covering of the body that protects it from the environment. It is composed of the DERMIS and the EPIDERMIS.Epithelium, Corneal: Stratified squamous epithelium that covers the outer surface of the CORNEA. It is smooth and contains many free nerve endings.Keratin-19: A type I keratin found associated with KERATIN-7 in ductal epithelia and gastrointestinal epithelia.Endophenotypes: Measurable biological (physiological, biochemical, and anatomical features), behavioral (psychometric pattern) or cognitive markers that are found more often in individuals with a disease than in the general population. Because many endophenotypes are present before the disease onset and in individuals with heritable risk for disease such as unaffected family members, they can be used to help diagnose and search for causative genes.Intermediate Filament Proteins: Filaments 7-11 nm in diameter found in the cytoplasm of all cells. Many specific proteins belong to this group, e.g., desmin, vimentin, prekeratin, decamin, skeletin, neurofilin, neurofilament protein, and glial fibrillary acid protein.Epithelium: One or more layers of EPITHELIAL CELLS, supported by the basal lamina, which covers the inner or outer surfaces of the body.Keratin-2: A type II keratin found expressed in the upper spinous layer of epidermal KERATINOCYTES. Mutations in genes that encode keratin-2A have been associated with ICHTHYOSIS BULLOSA OF SIEMENS.Limbus Corneae: An annular transitional zone, approximately 1 mm wide, between the cornea and the bulbar conjunctiva and sclera. It is highly vascular and is involved in the metabolism of the cornea. It is ophthalmologically significant in that it appears on the outer surface of the eyeball as a slight furrow, marking the line between the clear cornea and the sclera. (Dictionary of Visual Science, 3d ed)Hyperpigmentation: Excessive pigmentation of the skin, usually as a result of increased epidermal or dermal melanin pigmentation, hypermelanosis. Hyperpigmentation can be localized or generalized. The condition may arise from exposure to light, chemicals or other substances, or from a primary metabolic imbalance.Skin Diseases, Genetic: Diseases of the skin with a genetic component, usually the result of various inborn errors of metabolism.Epithelial Cells: Cells that line the inner and outer surfaces of the body by forming cellular layers (EPITHELIUM) or masses. Epithelial cells lining the SKIN; the MOUTH; the NOSE; and the ANAL CANAL derive from ectoderm; those lining the RESPIRATORY SYSTEM and the DIGESTIVE SYSTEM derive from endoderm; others (CARDIOVASCULAR SYSTEM and LYMPHATIC SYSTEM) derive from mesoderm. Epithelial cells can be classified mainly by cell shape and function into squamous, glandular and transitional epithelial cells.Desmosomes: A type of junction that attaches one cell to its neighbor. One of a number of differentiated regions which occur, for example, where the cytoplasmic membranes of adjacent epithelial cells are closely apposed. It consists of a circular region of each membrane together with associated intracellular microfilaments and an intercellular material which may include, for example, mucopolysaccharides. (From Glick, Glossary of Biochemistry and Molecular Biology, 1990; Singleton & Sainsbury, Dictionary of Microbiology and Molecular Biology, 2d ed)Feathers: Flat keratinous structures found on the skin surface of birds. Feathers are made partly of a hollow shaft fringed with barbs. They constitute the plumage.Molecular Sequence Data: Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.Phenotype: The outward appearance of the individual. It is the product of interactions between genes, and between the GENOTYPE and the environment.Genes, Dominant: Genes that influence the PHENOTYPE both in the homozygous and the heterozygous state.Cell Differentiation: Progressive restriction of the developmental potential and increasing specialization of function that leads to the formation of specialized cells, tissues, and organs.Vimentin: An intermediate filament protein found in most differentiating cells, in cells grown in tissue culture, and in certain fully differentiated cells. Its insolubility suggests that it serves a structural function in the cytoplasm. MW 52,000.Pedigree: The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.Mosaicism: The occurrence in an individual of two or more cell populations of different chromosomal constitutions, derived from a single ZYGOTE, as opposed to CHIMERISM in which the different cell populations are derived from more than one zygote.Amino Acid Sequence: The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.Base Sequence: The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Mice, Transgenic: Laboratory mice that have been produced from a genetically manipulated EGG or EMBRYO, MAMMALIAN.Chromosomes, Human, Pair 12: A specific pair of GROUP C CHROMOSOMES of the human chromosome classification.Lac Operon: The genetic unit consisting of three structural genes, an operator and a regulatory gene. The regulatory gene controls the synthesis of the three structural genes: BETA-GALACTOSIDASE and beta-galactoside permease (involved with the metabolism of lactose), and beta-thiogalactoside acetyltransferase.Dipodomys: A genus of the family Heteromyidae which contains 22 species. Their physiology is adapted for the conservation of water, and they seldom drink water. They are found in arid or desert habitats and travel by hopping on their hind limbs.Cytoskeleton: The network of filaments, tubules, and interconnecting filamentous bridges which give shape, structure, and organization to the cytoplasm.RNA, Messenger: RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.Frameshift Mutation: A type of mutation in which a number of NUCLEOTIDES deleted from or inserted into a protein coding sequence is not divisible by three, thereby causing an alteration in the READING FRAMES of the entire coding sequence downstream of the mutation. These mutations may be induced by certain types of MUTAGENS or may occur spontaneously.Desmoplakins: Desmoplakins are cytoskeletal linker proteins that anchor INTERMEDIATE FILAMENTS to the PLASMA MEMBRANE at DESMOSOMES.Dermatoglyphics: The study of the patterns of ridges of the skin of the fingers, palms, toes, and soles.Gene Knock-In Techniques: Techniques used to add in exogenous gene sequence such as mutated genes; REPORTER GENES, to study mechanisms of gene expression; or regulatory control sequences, to study effects of temporal changes to GENE EXPRESSION.Mutation, Missense: A mutation in which a codon is mutated to one directing the incorporation of a different amino acid. This substitution may result in an inactive or unstable product. (From A Dictionary of Genetics, King & Stansfield, 5th ed)Immunohistochemistry: Histochemical localization of immunoreactive substances using labeled antibodies as reagents.Fluorescent Antibody Technique: Test for tissue antigen using either a direct method, by conjugation of antibody with fluorescent dye (FLUORESCENT ANTIBODY TECHNIQUE, DIRECT) or an indirect method, by formation of antigen-antibody complex which is then labeled with fluorescein-conjugated anti-immunoglobulin antibody (FLUORESCENT ANTIBODY TECHNIQUE, INDIRECT). The tissue is then examined by fluorescence microscopy.Cells, Cultured: Cells propagated in vitro in special media conducive to their growth. Cultured cells are used to study developmental, morphologic, metabolic, physiologic, and genetic processes, among others.Gene Expression: The phenotypic manifestation of a gene or genes by the processes of GENETIC TRANSCRIPTION and GENETIC TRANSLATION.Gene Expression Profiling: The determination of the pattern of genes expressed at the level of GENETIC TRANSCRIPTION, under specific circumstances or in a specific cell.Corneal Dystrophies, Hereditary: Bilateral hereditary disorders of the cornea, usually autosomal dominant, which may be present at birth but more frequently develop during adolescence and progress slowly throughout life. Central macular dystrophy is transmitted as an autosomal recessive defect.Cornea: The transparent anterior portion of the fibrous coat of the eye consisting of five layers: stratified squamous CORNEAL EPITHELIUM; BOWMAN MEMBRANE; CORNEAL STROMA; DESCEMET MEMBRANE; and mesenchymal CORNEAL ENDOTHELIUM. It serves as the first refracting medium of the eye. It is structurally continuous with the SCLERA, avascular, receiving its nourishment by permeation through spaces between the lamellae, and is innervated by the ophthalmic division of the TRIGEMINAL NERVE via the ciliary nerves and those of the surrounding conjunctiva which together form plexuses. (Cline et al., Dictionary of Visual Science, 4th ed)Nail Diseases: Diseases of the nail plate and tissues surrounding it. The concept is limited to primates.Mallory Bodies: Cytoplasmic hyaline inclusions in HEPATOCYTES. They are associated with ALCOHOLIC STEATOHEPATITIS and non-alcoholic STEATOHEPATITIS, but are also present in benign and malignant hepatocellular neoplasms, and metabolic, toxic, and chronic cholestatic LIVER DISEASES.Nails, Malformed: Deformities in nail structure or appearance, including hypertrophy, splitting, clubbing, furrowing, etc. Genetic diseases such as PACHYONYCHIA CONGENITA can result in malformed nails.Carcinoma, Squamous Cell: A carcinoma derived from stratified SQUAMOUS EPITHELIAL CELLS. It may also occur in sites where glandular or columnar epithelium is normally present. (From Stedman, 25th ed)Gene Expression Regulation: Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.Biolistics: Techniques where DNA is delivered directly into organelles at high speed using projectiles coated with nucleic acid, shot from a helium-powered gun (gene gun). One of these techniques involves immunization by DNA VACCINES, which delivers DNA-coated gold beads to the epidermis.Oligonucleotide Array Sequence Analysis: Hybridization of a nucleic acid sample to a very large set of OLIGONUCLEOTIDE PROBES, which have been attached individually in columns and rows to a solid support, to determine a BASE SEQUENCE, or to detect variations in a gene sequence, GENE EXPRESSION, or for GENE MAPPING.Corneal Dystrophy, Juvenile Epithelial of Meesmann: An autosomal dominant form of hereditary corneal dystrophy due to a defect in cornea-specific KERATIN formation. Mutations in the genes that encode KERATIN-3 and KERATIN-12 have been linked to this disorder.Papilloma: A circumscribed benign epithelial tumor projecting from the surrounding surface; more precisely, a benign epithelial neoplasm consisting of villous or arborescent outgrowths of fibrovascular stroma covered by neoplastic cells. (Stedman, 25th ed)Microscopy, Electron: Microscopy using an electron beam, instead of light, to visualize the sample, thereby allowing much greater magnification. The interactions of ELECTRONS with specimens are used to provide information about the fine structure of that specimen. In TRANSMISSION ELECTRON MICROSCOPY the reactions of the electrons that are transmitted through the specimen are imaged. In SCANNING ELECTRON MICROSCOPY an electron beam falls at a non-normal angle on the specimen and the image is derived from the reactions occurring above the plane of the specimen.beta-Keratins: Keratins that form into a beta-pleated sheet structure. They are principle constituents of the corneous material of the carapace and plastron of turtles, the epidermis of snakes and the feathers of birds.Heterozygote: An individual having different alleles at one or more loci regarding a specific character.Wool: The hair of SHEEP or other animals that is used for weaving.Skin Diseases
... affecting the keratin genes KRT5 and KRT14. Junctional epidermolysis bullosa is an inherited disease affecting laminin and ... Recent research has focused on changing the mixture of keratins produced in the skin. There are 54 known keratin genes-of which ... If the balance of production could be shifted away from the mutated, dysfunctional keratin gene toward an intact keratin gene, ... "Reprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplex". Proceedings of ...
... clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 ... Krt14tm2Der/Krt14+. involves: 129X1/SvJ. J:67320 View. Krt14tm1Der/Krt14+. Tg(KRT14-cre/PGR)1Der/?. involves: 129X1/SvJ * FVB ... Krt14tm1Der/Krt14+. Tg(KRT5-cre/PGR)1Der/?. involves: 129X1/SvJ * FVB * ICR. J:67320 View. ... Associated Mouse Gene: Krt5 Allelic Composition. Genetic Background. Reference. Phenotypes. Krt5tm1Tmm/Krt5tm1Tmm. involves: ...
1998 Oct 7 [updated 2016 Oct 13].[ghr.nlm.nih.gov] […] encoding keratin 5 or keratin 14 Epidermolysis bullosa simplex (disorder ... KRT5) 609352 Epidermolysis bullosa simplex with mottled pigmentation.[en.wikipedia.org] GeneReview Scope Epidermolysis Bullosa ... KRT14 ( Epidermolysis bullosa simplex ) KRT17 ( Steatocystoma[en.wikipedia.org] ... KRT5 ( Epidermolysis bullosa simplex ) KRT8 ( Familial cirrhosis ) KRT10[en.wikipedia.org] ( Epidermolytic hyperkeratosis ) ...
View mouse Krt14 Chr11:100203162-100207548 with: phenotypes, sequences, polymorphisms, proteins, references, function, ... Krt14tm1Der/Krt14+. Tg(KRT5-cre/PGR)1Der/?. involves: 129X1/SvJ * FVB * ICR. J:67320 View. ... Krt14tm2Der/Krt14+. involves: 129X1/SvJ. J:67320 View. Krt14tm1Der/Krt14+. Tg(KRT14-cre/PGR)1Der/?. involves: 129X1/SvJ * FVB ... If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified ...
The keratins KRT5 and KRT14 are predominantly expressed by basal keratinocytes. The markers of early differentiation KRT1 and ... Totsuka A, Omori-Miyake M, Kawashima M, Yagi J, Tsunemi Y. Expression of keratin 1, keratin 10, desmoglein 1 and desmocollin 1 ... they irreversibly exit the cell cycle and switch from KRT5/KRT14 to KRT1/KRT10 production. During epidermal differentiation, ... Keratin 1 maintains skin integrity and participates in an inflammatory network in skin through interleukin-18. J Cell Sci. 2012 ...
Keratin type II cytoskeletal 5 antibody. *krt14 antibody. *krt5 antibody. see all ...
Keratin 5 (KRT5). Keratin 14 (KRT14). Keratin 5 & Keratin 14. Antikörper aus dem Gebiet Medikamente: »Antikörper anzeigen. ... Keratin 5. oder Keratin 14. Genen ausgelöst wird. Die Wissenschaftler untersuchten auch die Substanz Trimethylamin N-Oxid (TMAO ... Hinweis: Die folgenden Antikörper wurde für den Artikel verwendet: Cytokeratin 1 (KRT1,AE1) Antikörper, Cytokeratin 5 (KRT5, ... Quelle: Jean Christopher Chamcheua et al.: Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell ...
For mutation analysis we screened the genes KRT5 (keratin 5) and KRT14 (keratin 14). To get rid of the pseudogenes in KRT14 a ... F. B. Müller, W. Küster, K. Wodecki et al., "Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis ... A; R125H in KRT14. The patient is a heterozygous carrier for this de novo mutation, whereas the parental alleles reflect ... P. A. Coulombe, M. E. Hutton, A. Letai, A. Hebert, A. S. Paller, and E. Fuchs, "Point mutations in human keratin 14 genes of ...
New Zealand sheep wool keratin dressings. Authoritative facts from DermNet New Zealand. ... Keratin gene expression demarcates three keratinocyte phenotypes:. *basal keratinocytes expressing KRT5 and KRT14 proteins ... What are keratin-based dressings?. Keratin is the protein that makes up skin scales. New technology is using keratin to cover ... Keratin-rich gel/ointment is suitable for dry wounds.. *Keratin matrix dressings are designed for wounds that produce a ...
We found that keratin 14 (KRT14) marks the most primitive differentiation state that precedes KRT5 and KRT20 expression. ... Furthermore, KRT14 expression is consistently associated with worse prognosis in both univariate and multivariate analyses. We ...
Interacts with KRT5, KRT14 and KRT5/KRT14 heterotetramer; interacts preferentially with assembled filaments rather than keratin ... In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments ... In response to cellular stress, plays a role in keratin filament reorganization, probably by protecting keratin filaments ... It may function to maintain the integrity of keratin intermediate filament networks in epithelial cells. Studies of the ...
Colocalizes with epidermal KRT5-KRT14 and simple KRT8-KRT18 keratins and VIM intermediate filaments network (By similarity). ... Interacts with COL17A1 (via cytoplasmic region). Associates (via C-terminal) with KRT5-KRT14 (via rod region), KRT8-KRT18 and ... Some glutamines and lysines are cross-linked to other desmoplakin molecules, to other proteins such as keratin, envoplakin, ... Its association with epidermal and simple keratins is dependent on the tertiary structure induced by heterodimerization of ...
Our data indicate that Nir controls the expression of essential epidermal components including keratins (e.g. Krt14, Krt5, ... 2004). Keratin 14 Cre transgenic mice authenticate keratin 14 as an oocyte-expressed protein. Genesis 38, 176-181. doi:10.1002/ ... Krt5, Krt1 and Krt10, as well as Lor and β-catenin (Ctnnb1). Our data also revealed that levels of the ectodermal keratin ... with the Krt14-Cre deleter strain (Hafner et al., 2004) to produce Nirfl/fl; Krt14-Cre mice, hereafter referred to as NircKO ...
Keratins are a group of tough, fibrous proteins that form the structural framework of certain cells, particularly cells that ... The KRT5 gene provides instructions for making a protein called keratin 5. ... Keratin 5 partners with a similar protein, keratin 14 (produced from the KRT14 gene), to form molecules called keratin ... The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a group of tough, fibrous proteins that ...
... affecting the keratin genes KRT5 and KRT14. Junctional epidermolysis bullosa is an inherited disease affecting laminin and ... Recent research has focused on changing the mixture of keratins produced in the skin. There are 54 known keratin genes-of which ... If the balance of production could be shifted away from the mutated, dysfunctional keratin gene toward an intact keratin gene, ... "Reprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplex". Proceedings of ...
The reason for this is mutations in specific genes encoding for keratin 5 and keratin 14 (KRT5 and KRT14) [4, 5] and for ... L. M. Petek, P. Fleckman, and D. G. Miller, "Efficient KRT14 targeting and functional characterization of transplanted human ...
We found that keratin 14 (KRT14) marks the most primitive differentiation state that precedes KRT5 and KRT20 expression. ... Furthermore, KRT14 expression is consistently associated with worse prognosis in both univariate and multivariate analyses. We ...
... is usually inherited as an autosomal dominant disease due to monoallelic gain-of-function mutations in KRT5 or KRT14. Although ... The two missense mutations disrupted keratin 5 expression on immunofluorescence microscopy, and the human "knock-out" of KRT5 ... The two missense mutations disrupted keratin 5 expression on immunofluorescence microscopy, and the human "knock-out" of KRT5 ... Biallelic KRT5 mutations in autosomal recessive epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out ...
102100008641 KRT5 Human genes 0 description 4 * 102000018332 Keratin-14 Human genes 0 description 4 ... 102100019270 KRT14 Human genes 0 description 4 * ...
... keratin 14 (KRT14), keratin 5 (KRT5), and keratin 6B (KRT6B), as well as of CD44 molecule (CD44), which are expressed in ... keratin 20 (KRT20) (Fig. 1D), characteristic of urothelial umbrella cells (23). Moreover, the gene expression of KRT5 was ... KRT14, KRT5, and KRT6B). The basal cell compartment is a common feature of most organs with stratified or pseudostratified ... Cluster K1 of the meta-dataset expressed high levels of the high molecular weight keratins (HMWKs) ...
Heterocomplex of coil 2B domains of human intermediate filament proteins, keratin 5 (KRT5) and keratin 14 (KRT14). ...
Keratin 5 partners with a similar protein, keratin 14 (produced from the KRT14 gene), to form molecules called keratin ... The KRT5 gene provides instructions for making a protein called keratin 5. Keratins are a group of tough, fibrous proteins that ... Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease ... KRT5 gene. keratin 5. Enable Javascript to view the expand/collapse boxes.. Printable PDF Open All Close All ...
KRT14 is therefore considered a candidate gene. [2] Other candidate genes have been mapped to the region critical to NFJ ... Type I keratins have been shown to protect keratinocytes by blocking tumor necrosis factor-alpha (TNF-alpha) proapoptotic ... A nonsense mutation in a corresponding region of KRT5 has been found in Dowling-Degos disease and a missense mutation in the V1 ... 4] The genetic defect appears to be a region of the gene encoding the KRT14 nonhelical head (E1/V1) domain located between the ...
The nonhelical tail domain is involved in promoting KRT5-KRT14 filaments to self-organize into large bundles and enhances the ... Keratin 14 (epidermolysis bullosa simplex, Dowling-Meara, Koebner) antibody. *Keratin 14 antibody ... Defects in KRT14 are a cause of epidermolysis bullosa simplex Weber-Cockayne type (WC-EBS) [MIM:131800]. WC-EBS is a form of ... Defects in KRT14 are a cause of epidermolysis bullosa simplex Dowling-Meara type (DM-EBS) [MIM:131760]. DM-EBS is a severe form ...
KRT14, keratin 14; KRT5, keratin 5; KS, Kindler syndrome; RDEB, recessive dystrophic epidermolysis bullosa; RDEB-HS, ... A novel homozygous keratin 14 mutation in a patient with autosomal recessive epidermolysis bullosa simplex and squamous cell ... Importantly, one of the two cases of mucosal SCC occurring in an EBS-patients concerned a novel homozygous keratin 14 mutation ... Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene. Br J ...
KRT14+ and KRT5+cells were present in 1 or 2 IFE layers (as expected), but appeared in multiple layers in kDKO(P1) mice (Figure ... The Keratin-14 (Krt14) promotor directs gene expression in the basal layer of epidermal and follicular keratinocytes, including ... KRT5, KRT15, KRT10, Trichohyalin, or AE13. All tumors were positive for KRT17 (outer root sheath marker), KRT5 (basal cells and ... Keratin-15+ (KRT15+) cells, the most primitive in IFE, normally form a single basal layer attached to the IFE basement membrane ...
  • The activated or functional keratin has bioactive properties that enhance wound healing. (dermnetnz.org)
  • Replicine™ Functional Keratin® advanced wound dressings are approved by the US FDA, European Union, Australian and New Zealand regulatory authorities. (dermnetnz.org)
  • Two pathogenic, homozygous missense variants of KRT5 in two patients with generalized EBS and a homozygous null mutation in a patient who died as a neonate from complications of EB were found. (lu.se)
  • Proliferation of KRT14 -expressing basal cells leads to development of dermatoglyphics during the first trimester of gestation. (medscape.com)
  • Early data separated distinct populations of basal cells and "intermediate" cells based on morphologic properties, such as the proximity of nuclei to the basement membrane, and basal cells also exhibit differences in marker gene expression, for example, only a subset of KRT5 + basal cells express the transcription factor P63 or the injury-induced protein KRT14. (aacrjournals.org)
  • In response to mechanical stress like wound healing, is associated with the machinery for cellular motility by slowing down keratinocyte migration and proliferation and accelerating keratin bundling in proliferating keratinocytes thus contributing to tissue architecture (PubMed:27206504, PubMed:23398049). (genecards.org)
  • There are two hypotheses about their pathogenesis: ductal obstruction by keratin plugs and reactive eccrine proliferation following an inflammatory condition. (bvsalud.org)
  • [ 4 ] The genetic defect appears to be a region of the gene encoding the KRT14 nonhelical head (E1/V1) domain located between the microsatellite markers D17S798 and D17S957, which are separated by approximately 26.97 cM. (medscape.com)
  • Many studies have shown the usefulness of keratins as markers in cancer research and tumor diagnosis. (thermofisher.com)
  • The RNA sample with the higher integrity (C71A) recorded lower Cqs for KRT19 (keratin 19), UBC#1, and HMBS (hydroxymethylbilane synthase), but not for TP53I3 (tumor protein p53 inducible protein 3) and GAPDH (see online Supplemental Tab 12). (thefreedictionary.com)
  • The aim is also to study whether the functional ASOs can induce exon skipping of the COL7A1 gene and silencing of the mutant KRT14 RNA copy when applied to human skin (using leftover skin from surgical procedures). (debra.org.uk)
  • If keratin 16 is also expressed in skin, development is normal but later alopecia, chronic skin ulcers and stratified epithelial defects occur. (jax.org)
  • The aim of our study was to identify the molecular defects in KRT5 and KRT14 in a cohort of 46 Polish and one Belarusian probands with clinical suspicion of EBS and to determine the genotype-phenotype correlation. (cdc.gov)
  • They have been working with the pharmaceutical company WAVE Life Sciences on this project and have identified several ASOs that can silence the KRT14 messenger RNA in human skin cells grown in the laboratory. (debra.org.uk)
  • Solubilized keratin extract from human stratum corneum. (abnova.com)