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Journal Abstract Search

177 related items for PubMed ID: 26120802

  • 1. Phenotypic variation in epidermolytic ichthyosis: clinical and functional evaluation of the novel p.(Met339Lys) mutation in the L12 domain of KRT1.
    Nellen RG, Nagtzaam IF, Hoogeboom AJ, Bladergroen RS, Jonkman MF, Steijlen PM, van Steensel MA, van Geel M.
    Exp Dermatol; 2015 Nov; 24(11):883-5. PubMed ID: 26120802
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  • 3. A de novo mutation of KRT1 in a baby girl causing epidermolytic ichthyosis with impressive epidermolytic palmoplantar keratoderma.
    Calì F, Failla P, Vinci M, Siragusa M, Schepis C.
    Dermatol Online J; 2020 Jul 15; 26(7):. PubMed ID: 32898404
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  • 6. Mild epidermolytic ichthyosis with palmoplantar keratoderma due to the KRT1 mutation p.lle479Thr.
    Murase Y, Tanahashi K, Takeichi T, Sugiura K, Aiyama A, Nishida K, Mitsuma T, Akiyama M.
    J Dermatol; 2020 Sep 15; 47(9):e336-e339. PubMed ID: 32588446
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  • 7. Mild phenotype of epidermolytic hyperkeratosis mimicking ichthyosis bullosa of Siemens is related to specific mutation in 2B domain of KRT1.
    Sung JY, Oh SW, Kim SE, Kim SC.
    J Dermatol Sci; 2013 Jun 15; 70(3):220-2. PubMed ID: 23623204
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  • 10. Epidermolytic ichthyosis in a child and systematized epidermolytic nevi in the mosaic parent associated with a KRT1 variant.
    Chia SY, Tan EC, Wei H, Zhao Y, Koh MJA.
    Eur J Med Genet; 2021 Nov 15; 64(11):104324. PubMed ID: 34461324
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  • 11. Nonsense mutations in KRT1 caused recessive epidermolytic palmoplantar keratoderma with knuckle pads.
    Mo R, Lin M, Lee M, Yan W, Wang H, Lin Z.
    J Eur Acad Dermatol Venereol; 2022 Oct 15; 36(10):1857-1862. PubMed ID: 35490383
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  • 12. Annular epidermolytic ichthyosis with palmoplantar keratosis: a unique phenotype associated with interfamilial phenotypic heterogeneity.
    Liang B, Yuan T, Zhou Y, Ding Y, Tang L, Wang F, Wang P, Li H, Zhang Y, Zhu M, Ji Y, Hong X, Zhang X, Zhu Q.
    Eur J Dermatol; 2020 Jun 01; 30(3):294-299. PubMed ID: 32666929
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  • 13. Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
    Virtanen M, Smith SK, Gedde-Dahl T, Vahlquist A, Bowden PE.
    J Invest Dermatol; 2003 Nov 01; 121(5):1013-20. PubMed ID: 14708600
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  • 14. A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
    Bergman R, Khamaysi Z, Sprecher E.
    Am J Dermatopathol; 2008 Apr 01; 30(2):101-5. PubMed ID: 18360110
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  • 15. A de novo variant in the keratin 1 gene (KRT1) in a Chinese shar-pei dog with severe congenital cornification disorder and non-epidermolytic ichthyosis.
    Affolter VK, Kiener S, Jagannathan V, Nagle T, Leeb T.
    PLoS One; 2022 Apr 01; 17(10):e0275367. PubMed ID: 36251712
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  • 16. Two cases of KRT1 mutation-associated epidermolytic ichthyosis without typical epidermolytic hyperkeratosis in the neonatal skin lesions.
    Kim T, Kim SC, Lee SE.
    Pediatr Dermatol; 2023 Apr 01; 40(6):1149-1151. PubMed ID: 37170713
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  • 17. Variants in the L12 linker domain of KRT10 are causal to atypical epidermolytic ichthyosis.
    van der Velden JJAJ, van Gisbergen MW, Kamps MAF, Janssen R, Diercks GFH, Steijlen PM, van Geel M, Bolling MC.
    J Dermatol; 2024 Sep 01; 51(9):1180-1186. PubMed ID: 39072839
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  • 18. Keratin 1 gene mutation detected in epidermal nevus with epidermolytic hyperkeratosis.
    Tsubota A, Akiyama M, Sakai K, Goto M, Nomura Y, Ando S, Abe M, Sawamura D, Shimizu H.
    J Invest Dermatol; 2007 Jun 01; 127(6):1371-4. PubMed ID: 17255957
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  • 19. Extensive Post-zygotic Mosaicism of KRT1 or KRT10 Mutation Mimicking Classical Epider-molytic Ichthyosis.
    Severino-Freire M, Jonca N, Pichery M, Tournier E, Chassaing N, Mazereeuw-Hautier J.
    Acta Derm Venereol; 2017 Mar 10; 97(3):387-388. PubMed ID: 27722766
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