A Mutation in the V1 End Domain of Keratin 1 in Non-Epidermolytic Palmar-Plantar Keratoderma
نویسندگان
چکیده
منابع مشابه
Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin. The Keratin 9 (KRT9) and Keratin 1 genes are responsible for EPPK. Several previous studies have focused on the genetic basis of EPPK; however, genetic anticipation has not yet been reported. We described a four...
متن کاملA de novo mutation in the keratin 9 gene in a family with epidermolytic palmoplantar keratoderma from northern Sweden.
Sir, Palmoplantar keratodermas (PPKs) constitute a heterogeneous group of skin disorders with the distinctive trait of hyperkeratosis of palmoplantar skin. The disorders are classified clinically by the morphology and distribution of the hyperkeratosis, the presence of associated cutaneous and non-cutaneous features and by the mode of transmission (1, 2). Familial diffuse epidermolytic PPK (EPP...
متن کاملa corpus-based study of the frequency of personal pronouns in translated and comparable non-translated persian texts
چکیده ندارد.
15 صفحه اولNovel and recurrent mutations in the 1B domain of keratin 1 in palmoplantar keratoderma with tonotubules.
Palmoplantar keratodermas (PPKs) are a large group of disorders characterized by hyperkeratosis of palms and soles. They can be classified by their mode of inheritance, the morphology and distribution of the hyperkeratosis (diffuse, focal or punctate), the involvement of other ectodermal structures, the presence or absence of associated nonectodermal features and the morphological findings at l...
متن کاملA spontaneous KRT16 mutation in a dog breed: a model for human focal non-epidermolytic palmoplantar keratoderma (FNEPPK).
TO THE EDITOR The keratin 16 gene (KRT16) encodes an intermediate filament protein mainly expressed in palmoplantar epidermis. In humans, mutations in KRT16 are responsible for pachyonychia congenita and focal non-epidermolytic palmoplantar keratoderma (FNEPPK; Smith et al., 2000; McLean and Moore, 2011). One of the main symptoms is a painful thickening of the palms and soles. To understand mol...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 1994
ISSN: 0022-202X
DOI: 10.1111/1523-1747.ep12412771