| 1 | EHK2, KRT10
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| New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy.
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| Sheth N, Greenblatt D, McGrath JA.
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| Br J Dermatol 157(3):602-4. Epub 2007 Jun 26. No abstract available.
2007
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| 2 | KRT10, EHK2
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| A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis.
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| Muller FB, Huber M, Kinaciyan T, Hausser I, Schaffrath C, Krieg T, Hohl D, Korge BP, Arin MJ.
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| Hum Mol Genet 15(7):1133-41. Epub 2006 Feb 27. 2006
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| 3 | PPKS3, KRT1, EHK2, KRT10
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| Splice site and deletion mutations in keratin (KRT1 and KRT10) genes: unusual phenotypic alterations in Scandinavian patients with epidermolytic hyperkeratosis.
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| Virtanen M, Smith SK, Gedde-Dahl T Jr, Vahlquist A, Bowden PE.
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| J Invest Dermatol 121(5):1013-20. 2003
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| 4 | CMH1, EHK2, KRT10, MYH7
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| Familial hypertrophic cardiomyopathy associated with a novel missense mutation affecting the ATP-binding region of the cardiac beta-myosin heavy chain.
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| Bundgaard H, et al.
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| J Mol Cell Cardiol 31(4):745-50. 1999
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| 5 | EHK2, KRT10
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| A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma.
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| Suga Y, et al.
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| J Invest Dermatol 111 : 1220-1223. 1998
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| 6 | EHK2, KRT10
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| A keratin K10 gene mutation in a Japanese patient with epidermolytic hyperkeratosis.
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| Nomura K, Meng X, Umeki K, Tamai K, Sawamura D, Hashimoto I, Kikuchi T.
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| Jpn J Hum Genet 42(1):217-23. 1997
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| 7 | EHK2, KRT10
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| An alanine to proline mutation in the 1A rod domain of the keratin 10 chain in epidermolytic hyperkeratosis.
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| Yang JM, Yoneda K, Morita E, Imamura S, Nam K, Lee ES, Steinert PM.
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| J Invest Dermatol 109(5):692-4. 1997
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| 8 | EHK1, EHK2, EBS2A, EBS2B, EBS3A, EBS3B, EBS5A, EBS5B, EPPK
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| Epidermal disease : faulty keratin filaments take their toll.
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| Compton JG.
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| Nat Genet 6 : 6-7. 1994
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| 9 | KRT1, KRT10, EHK1, EHK2
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| Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
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| McLean WHI, et al.
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| J Invest Dermatol 102 : 24-30. 1994
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| 10 | EHK1, EHK2, KRT1, KRT10
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| Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity.
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| Syder AJ, et al.
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| J Clin Invest 93 : 1533-1542. 1994
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| 11 | EHK2, KRT10
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| Genetic and clinical mosaicism in a type of epidermal nevus.
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| Paller AS, et al.
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| N Engl J Med 331 : 1408-1415. 1994
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| 12 | EHK2, KRT10
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| A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis.
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| Rothnagel JA, et al.
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| Hum Mol Genet 2 : 2147-2150. 1993
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| 13 | EHK1, EHK2
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| Distinct clinical phenotypes in Epidermolytic Hyperkeratosis (EH) : correlation with mutations in keratin 1 or keratin 10.
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| Bale SJ, et al.
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| Am J Hum Genet 53 : 247. 1993
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| 14 | EHK1, EHK2, KRT1, KRT10
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| Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis.
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| Rothnagel JA, et al.
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| Science 257 : 1128-1130. 1992
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| 15 | EHK2
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| The genetic basis of epidermolytic hyperkeratosis : a disorder of differentiation-specific epidermal keratin genes.
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| Cheng J, et al.
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| Cell 70 : 811-819. 1992
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| 16 | KRT1, KRT10, EHK1, EHK2
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| Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma.
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| Ishida-Yamamoto A, et al.
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| J Invest Dermatol 99 : 19-26. 1992
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