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34βE12, often written as 34betaE12 and also known as CK34βE12 and keratin 903 (CK903), is an antibody specific for high molecular weight cytokeratins 1, 5, 10 and 14. [ 1 ] [ 2 ] It is sometimes, less precisely, referred to as high-molecular weight keratin ( HMWK ) and high-molecular weight cytokeratin ( HMWCK ).
Keratin filaments are abundant in keratinocytes in the hornified layer of the epidermis; these are proteins which have undergone keratinization. They are also present in epithelial cells in general. For example, mouse thymic epithelial cells react with antibodies for keratin 5, keratin 8, and keratin 14.
Keratin 14 was the first type I keratin sequence determined. [5] Keratin 14 is also known as cytokeratin-14 (CK-14) or keratin-14 (KRT14). In humans it is encoded by the KRT14 gene. [6] [7] [8] Keratin 14 is usually found as a heterodimer with type II keratin 5 and form the cytoskeleton of epithelial cells.
The term cytokeratin began to be used in the late 1970s, when the protein subunits of keratin intermediate filaments inside cells were first being identified and characterized. [2] In 2006 a new systematic nomenclature for mammalian keratins was created, and the proteins previously called cytokeratins are simply called keratins (human ...
At each stage of differentiation, keratinocytes express specific keratins, such as keratin 1, keratin 5, keratin 10, and keratin 14, but also other markers such as involucrin, loricrin, transglutaminase, filaggrin, and caspase 14.
A rare clinical entity, and is the only epidermolytic epidermolysis bullosa described that is not caused by a keratin mutation, presenting as a generalized intraepidermal blistering similar to the Koebner variant of generalized epidermolysis bullosa simplex, but also associated with adult onset muscular dystrophy. [1]: 598 [6]: 557 [8]
NFJS is caused by mutations in the keratin 14 (KRT14) gene, located on chromosome 17q12-21. [3] [5] The disorder is inherited in an autosomal dominant manner, which means that the defective gene responsible for a disorder is located on an autosome (chromosome 17 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who has ...
Histiocytic diseases in dogs are a group of diseases in dogs which may involve the skin, and which can be difficult to differentiate from granulomatous, reactive inflammatory or lymphoproliferative diseases. The clinical presentation and behaviour as well as response to therapy vary greatly among the syndromes.
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