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Volumn 120, Issue 3, 2003, Pages 498-500

In vivo studies of mutant keratin 1 in ichthyosis hystrix Curth-Macklin [2]

Author keywords

[No Author keywords available]

Indexed keywords

CYSTEINE; DESMOGLEIN 1; DESMOPLAKIN; KERATIN; KERATIN TYPE 1; UNCLASSIFIED DRUG;

EID: 0344406729     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.2003.12064.x     Document Type: Letter
Times cited : (15)

References (15)
  • 1
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    • Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis
    • Anton-Lamprecht I: Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. J Invest Dermatol 103:6S-12S, 1994
    • (1994) J Invest Dermatol , vol.103
    • Anton-Lamprecht, I.1
  • 2
    • 0015938892 scopus 로고
    • Ultrastructure of inborn errors of keratinization. II. Ichthyosis hystrix type Curth-Macklin
    • Anton-Lamprecht I, Ollendorff-Curth H, Schnyder UW: Ultrastructure of inborn errors of keratinization. II. Ichthyosis hystrix type Curth-Macklin. Arch Forsch 246:77-91, 1973
    • (1973) Arch Forsch , vol.246 , pp. 77-91
    • Anton-Lamprecht, I.1    Ollendorff-Curth, H.2    Schnyder, U.W.3
  • 4
    • 0032837376 scopus 로고    scopus 로고
    • Nonsense-mediated mRNA decay in health and disease
    • Frischmeyer PA, Dietz HC: Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet 8:1893-1900, 1999
    • (1999) Hum Mol Genet , vol.8 , pp. 1893-1900
    • Frischmeyer, P.A.1    Dietz, H.C.2
  • 5
    • 0035086720 scopus 로고    scopus 로고
    • Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma
    • Hunt DM, Rickman L, Whittock NV, et al: Spectrum of dominant mutations in the desmosomal cadherin desmoglein 1, causing the skin disease striate palmoplantar keratoderma. Eur J Hum Genet 9:197-203, 2001
    • (2001) Eur J Hum Genet , vol.9 , pp. 197-203
    • Hunt, D.M.1    Rickman, L.2    Whittock, N.V.3
  • 6
    • 0030045163 scopus 로고    scopus 로고
    • Immunoelectron microscopic analysis of cornified cell envelope formation in normal and psoriatic epidermis
    • Ishida-Yamamoto A, Eady RAJ, Watt FM, Roop DR, Hohl D, Iizuka H: Immunoelectron microscopic analysis of cornified cell envelope formation in normal and psoriatic epidermis. J Histochem Cytochem 44:167-175, 1996
    • (1996) J Histochem Cytochem , vol.44 , pp. 167-175
    • Ishida-Yamamoto, A.1    Eady, R.A.J.2    Watt, F.M.3    Roop, D.R.4    Hohl, D.5    Iizuka, H.6
  • 7
    • 0034521297 scopus 로고    scopus 로고
    • Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma
    • Ishida-Yamamoto A, Kato H, Kiyama H, et al: Mutant loricrin is not crosslinked into the cornified cell envelope but is translocated into the nucleus in loricrin keratoderma. J Invest Dermatol 115:1088-1094, 2000
    • (2000) J Invest Dermatol , vol.115 , pp. 1088-1094
    • Ishida-Yamamoto, A.1    Kato, H.2    Kiyama, H.3
  • 8
    • 0036164873 scopus 로고    scopus 로고
    • Lessons from disorders of epidermal differentiation-associated keratins
    • Ishida-Yamamoto A, Takahashi H, Iizuka H: Lessons from disorders of epidermal differentiation-associated keratins. Histol Histopathol 17:331-338, 2002
    • (2002) Histol Histopathol , vol.17 , pp. 331-338
    • Ishida-Yamamoto, A.1    Takahashi, H.2    Iizuka, H.3
  • 10
    • 0025327840 scopus 로고
    • Altered keratin expression in ichthyosis hystrix Curth-Macklin. A light and electron microscopic study
    • Niemi KM, Virtanen I, Kanerva L, Muttilainen M: Altered keratin expression in ichthyosis hystrix Curth-Macklin. A light and electron microscopic study. Arch Dermatol Res 282:227-233, 1990
    • (1990) Arch Dermatol Res , vol.282 , pp. 227-233
    • Niemi, K.M.1    Virtanen, I.2    Kanerva, L.3    Muttilainen, M.4
  • 11
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    • The genetic basis of various types of ichthyosis in a family group
    • Ollendorff Curth H, Macklin MT: The genetic basis of various types of ichthyosis in a family group. Am J Hum Genet 6:371-382, 1954
    • (1954) Am J Hum Genet , vol.6 , pp. 371-382
    • Ollendorff Curth, H.1    Macklin, M.T.2
  • 12
    • 0032970153 scopus 로고    scopus 로고
    • N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma
    • Rickman L, Simrak D, Stevens HP, et al: N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma. Hum Mol Genet 8:971-976, 1999
    • (1999) Hum Mol Genet , vol.8 , pp. 971-976
    • Rickman, L.1    Simrak, D.2    Stevens, H.P.3
  • 13
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    • Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix
    • Sprecher E, Ishida-Yamamoto A, Becker OM, et al: Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix. J Invest Dermatol 116:511-519, 2001
    • (2001) J Invest Dermatol , vol.116 , pp. 511-519
    • Sprecher, E.1    Ishida-Yamamoto, A.2    Becker, O.M.3
  • 15
    • 0036093823 scopus 로고    scopus 로고
    • Frameshift mutation in the V 2 domain of human keratin 1 results in striate palmoplantar keratoderma
    • Whittock NV, Smith FJ, Wan H, et al: Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma. J Invest Dermatol 118:838-844, 2002
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    • Whittock, N.V.1    Smith, F.J.2    Wan, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.