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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.
Keratin (/ ˈ k ɛr ə t ɪ n / [1] [2]) is one of a family of structural fibrous proteins also known as scleroproteins. It is the key structural material making up scales , hair , nails , feathers , horns , claws , hooves , and the outer layer of skin in vertebrates.
Keratin protein expression within the various layers and anatomic locations of the human integumentary system Keratin type Location of expression 1: Suprabasal epidermis of skin 2 (2e) Granular layer: 3: Cornea: 4: Suprabasal epidermis of mucosa 5: Basal layer: 6a: Suprabasal palmoplantar skin 6b: Basal palmoplantar skin Nail bed Hair follicle ...
A Civatte body (named after the French dermatologist Achille Civatte, 1877–1956) [36] is a damaged basal keratinocyte that has undergone apoptosis, and consist largely of keratin intermediate filaments, and are almost invariably covered with immunoglobulins, mainly IgM. [37]
The first sequences of keratins revealed that keratins could be grouped into two categories based on their sequence homologies. [1] [2] These two groups of keratins were named as type I and type II keratins. [2]
Cutaneous conditions caused by mutations in keratin proteins Defective keratin type Condition(s) 1: Epidermolytic hyperkeratosis Ichthyosis hystrix of Curth–Macklin Diffuse nonepidermolytic palmoplantar keratoderma (Unna–Thost keratoderma) Diffuse epidermolytic palmoplantar keratoderma (Vörner keratoderma) 2 (2e) Ichthyosis bullosa of ...
Epidermolysis bullosa simplex (EBS) is a disorder resulting from mutations in the genes encoding keratin 5 or keratin 14. [ 1 ] : 598 [ 2 ] It is one of the major forms of epidermolysis bullosa , a group of genetic conditions that cause the skin to be very fragile and to blister easily.
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 ...