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1 cell superantigenic activity retained their epidermolytic activity (although some of these mutants r
5 t causes the autosomal dominant skin disease epidermolytic hyperkeratosis (EHK) is an arginine to his
8 autosomal-dominant skin blistering disorder, epidermolytic hyperkeratosis (MIM 113800), which is caus
9 calcium in outer stratum granulosum cells in epidermolytic hyperkeratosis after barrier disruption.
11 baseline permeability barrier abnormality in epidermolytic hyperkeratosis can be attributed to abnorm
15 mal dominant genodermatosis characterized by epidermolytic hyperkeratosis restricted to the palm and
16 mately 3-fold, recovery rates were faster in epidermolytic hyperkeratosis than in age-matched control
17 kin blistering phenotype mimicking a form of epidermolytic hyperkeratosis, a keratin gene disorder.
18 the keratin 10 deficient mouse, a model for epidermolytic hyperkeratosis, and a mouse model for Bloo
19 erythrodermic psoriasis, atopic dermatitis, epidermolytic hyperkeratosis, and Netherton's syndrome.
20 or the major inherited blistering disorders, epidermolytic hyperkeratosis, epidermolysis bullosa simp
21 o ((157)NQSLLQPL --> (157)NQSPLQPL) leads to epidermolytic hyperkeratosis, we tested and showed that
22 x, neurofibromatosis type 1, Bloom syndrome, epidermolytic hyperkeratosis, X-linked ichthyosis, Nethe
31 filament fragility phenotype associated with epidermolytic ichthyosis was observed by the immunofluor
33 hthyosis (7 with Netherton syndrome, 13 with epidermolytic ichthyosis, 16 with lamellar ichthyosis, a
34 hroderma, n = 6; lamellar ichthyosis, n = 7; epidermolytic ichthyosis, n = 5; and Netherton syndrome,
35 hroderma, n = 9; lamellar ichthyosis, n = 8; epidermolytic ichthyosis, n = 8; and Netherton syndrome,
36 rneocyte compaction in all ichthyoses except epidermolytic ichthyosis, suggesting phenotypic variatio
44 hia congenita (PC, OMIM:167200) or focal non-epidermolytic palmoplantar keratoderma (FNEPPK, OMIM:613
45 losis with oesophageal cancer (TOC), and non-epidermolytic palmoplantar keratoderma (NEPPK); increase
48 mutations in the K9 gene are known to cause epidermolytic palmoplantar keratoderma, a rare dominant-
49 perkeratosis, epidermolysis bullosa simplex, epidermolytic palmoplantar keratoderma, junctional epide
50 tient with extensive mucocutaneous blisters, epidermolytic palmoplantar keratoderma, nail dystrophy,