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Volumn 1, Issue 2, 2013, Pages 108-112

A novel nonsense mutation in keratin 10 causes a familial case of recessive epidermolytic ichthyosis

Author keywords

Bullous congenital ichthyosiform erythroderma; Epidermolytic hyperkeratosis; Epidermolytic ichthyosis; Genetics; Keratin; Keratin 10; Mutations; Nonsense mediated mRNA decay

Indexed keywords


EID: 84898655338     PISSN: None     EISSN: 23249269     Source Type: Journal    
DOI: 10.1002/mgg3.6     Document Type: Article
Times cited : (16)

References (11)
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  • 2
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    • Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis
    • Chassaing, N., J. Kanitakis, S. Sportich, M. P. Cordier-Alex, M. Titeux, P. Calvas, et al. 2006. Generalized epidermolytic hyperkeratosis in two unrelated children from parents with localized linear form, and prenatal diagnosis. J. Invest. Dermatol. 126:2715–2717
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    • Chassaing, N.1    Kanitakis, J.2    Sportich, S.3    Cordier-Alex, M.P.4    Titeux, M.5    Calvas, P.6
  • 3
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    • Consortium, T. 2010. A map of human genome variation from population-scale sequencing. Nature 467:1061–1073
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  • 4
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    • Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10
    • Covaciu, C., M. Castori, N. De Luca, P. Ghirri, A. Nannipieri, G. Ragone, et al. 2010. Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10. Br. J. Dermatol. 162:1384–1387
    • (2010) Br. J. Dermatol , vol.162 , pp. 1384-1387
    • Covaciu, C.1    Castori, M.2    De Luca, N.3    Ghirri, P.4    Nannipieri, A.5    Ragone, G.6
  • 6
    • 0032547830 scopus 로고    scopus 로고
    • Onset of keratin17 expression coincides with the definition of major epithelial lineages during skin development
    • McGowan, K. M., and P. A. Coulombe. 1998. Onset of keratin17 expression coincides with the definition of major epithelial lineages during skin development. J. Cell Biol.143:469–486
    • (1998) J. Cell Biol , vol.143 , pp. 469-486
    • McGowan, K.M.1    Coulombe, P.A.2
  • 8
    • 77952700774 scopus 로고    scopus 로고
    • Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Soreze 2009
    • Oji, V., G. Tadini, M. Akiyama, C. Blanchet Bardon, C. Bodemer, E. Bourrat, et al. 2010. Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Soreze 2009. J. Am. Acad. Dermatol. 63:607–641
    • (2010) J. Am. Acad. Dermatol , vol.63 , pp. 607-641
    • Oji, V.1    Tadini, G.2    Akiyama, M.3    Blanchet Bardon, C.4    Bodemer, C.5    Bourrat, E.6
  • 9
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    • The mammalian nonsense-mediated mRNA decay pathway: To decay or not to decay! Which players make the decision?
    • Silva, A. L., and L. Romao. 2009. The mammalian nonsense-mediated mRNA decay pathway: to decay or not to decay! Which players make the decision? FEBS Lett. 583:499–505
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    • Silva, A.L.1    Romao, L.2
  • 10
    • 70350055357 scopus 로고    scopus 로고
    • Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene
    • Terheyden, P., G. Grimberg, I. Hausser, C. Rose, B. P. Korge, T. Krieg, et al. 2009. Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene. J. Invest. Dermatol. 129:2721–2723
    • (2009) J. Invest. Dermatol , vol.129 , pp. 2721-2723
    • Terheyden, P.1    Grimberg, G.2    Hausser, I.3    Rose, C.4    Korge, B.P.5    Krieg, T.6
  • 11
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    • Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation
    • Tsubota, A., M. Akiyama, J. Kanitakis, K. Sakai, T. Nomura, A. Claudy, et al. 2008. Mild recessive bullous congenital ichthyosiform erythroderma due to a previously unidentified homozygous keratin 10 nonsense mutation. J. Invest. Dermatol. 128:1648–1652.
    • (2008) J. Invest. Dermatol , vol.128 , pp. 1648-1652
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.