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Volumn 133, Issue 1, 2013, Pages 270-273

Epidermolysis bullosa simplex ogna revisited

Author keywords

[No Author keywords available]

Indexed keywords

COL17A1 GENE; DERMIS; DST GENE; EPIDERMIS; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE; GENE MUTATION; HUMAN; KERATIN 14 GENE; KERATIN 5 GENE; LETTER; NUCLEOTIDE SEQUENCE; PLECTIN GENE; PRIORITY JOURNAL;

EID: 84872197603     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2012.248     Document Type: Letter
Times cited : (18)

References (15)
  • 1
    • 0037289781 scopus 로고    scopus 로고
    • Plectinisoform- specific rescue of hemidesmosomal defects in plectin (-/-) keratinocytes
    • Andra K, Kornacker I, Jorgl A et al. (2003) Plectinisoform- specific rescue of hemidesmosomal defects in plectin (-/-) keratinocytes. J Invest Dermatol 120:189-977
    • (2003) J Invest Dermatol , vol.120 , pp. 189-977
    • Andra, K.1    Kornacker, I.2    Jorgl, A.3
  • 2
    • 77952717243 scopus 로고    scopus 로고
    • Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype
    • Arin MJ, Grimberg G, Schumann H et al. (2010) Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: Correlation between genotype and phenotype. Br J Dermatol 162: 1365-99
    • (2010) Br J Dermatol , vol.162 , pp. 1365-1399
    • Arin, M.J.1    Grimberg, G.2    Schumann, H.3
  • 3
    • 79952403554 scopus 로고    scopus 로고
    • Mutations in KRT5 and KRT144 cause epidermolysis bullosa simplex in 75% of the patients
    • Bolling MC, Lemmink HH, Jansen GH et al. (2010) Mutations in KRT5 and KRT144 cause epidermolysis bullosa simplex in 75% of the patients. Br J Dermatol 164: 637-444
    • (2010) Br J Dermatol , vol.164 , pp. 637-444
    • Bolling, M.C.1    Lemmink, H.H.2    Jansen, G.H.3
  • 4
    • 43449084027 scopus 로고    scopus 로고
    • The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB
    • Fine JD, Eady RA, Bauer EA et al. (2008) The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. J Am Acad Dermatol 58:931-500
    • (2008) J Am Acad Dermatol , vol.58 , pp. 931-500
    • Fine, J.D.1    Eady, R.A.2    Bauer, E.A.3
  • 5
    • 0028578649 scopus 로고
    • A panel of monoclonal antibodies to rat plectin: Distinction by epitope mapping and immunoreactivity with different tissues and cell lines
    • Foisner R, Feldman B, Sander L et al. (1994) A panel of monoclonal antibodies to rat plectin: Distinction by epitope mapping and immunoreactivity with different tissues and cell lines. Acta Histochem 96:421-388
    • (1994) Acta Histochem , vol.96 , pp. 421-388
    • Foisner, R.1    Feldman, B.2    Sander, L.3
  • 7
    • 77952431203 scopus 로고    scopus 로고
    • A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex
    • Groves RW, Liu L, Dopping-Hepenstal PJ et al. (2010) A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex. J Invest Dermatol 130:1551-77
    • (2010) J Invest Dermatol , vol.130 , pp. 1551-1577
    • Groves, R.W.1    Liu, L.2    Dopping-Hepenstal, P.J.3
  • 8
    • 33845990287 scopus 로고    scopus 로고
    • Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes
    • Herz C, Aumailley M, Schulte C et al. (2006) Kindlin-1 is a phosphoprotein involved in regulation of polarity, proliferation, and motility of epidermal keratinocytes. J Biol Chem 281:36082-900
    • (2006) J Biol Chem , vol.281 , pp. 36082-36900
    • Herz, C.1    Aumailley, M.2    Schulte, C.3
  • 9
    • 0036151350 scopus 로고    scopus 로고
    • A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: Two identical de novo mutations
    • Koss-Harnes D, Hoyheim B, Anton-Lamprecht I et al. (2002) A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: Two identical de novo mutations. J Invest Dermatol 118:87-933
    • (2002) J Invest Dermatol , vol.118 , pp. 87-933
    • Koss-Harnes, D.1    Hoyheim, B.2    Anton-Lamprecht, I.3
  • 10
    • 0030934281 scopus 로고    scopus 로고
    • Plectin abnormality in epidermolysis bullosa simplex Ogna: Non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies
    • Koss-Harnes D, Jahnsen FL, Wiche G et al. (1997) Plectin abnormality in epidermolysis bullosa simplex Ogna: Non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies. Exp Dermatol 6:41-88
    • (1997) Exp Dermatol , vol.6 , pp. 41-88
    • Koss-Harnes, D.1    Jahnsen, F.L.2    Wiche, G.3
  • 11
    • 0037439896 scopus 로고    scopus 로고
    • Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly
    • Koster J, Geerts D, Favre B et al. (2003) Analysis of the interactions between BP180, BP230, plectin and the integrin alpha6beta4 important for hemidesmosome assembly. J Cell Sci 116:387-999
    • (2003) J Cell Sci , vol.116 , pp. 387-999
    • Koster, J.1    Geerts, D.2    Favre, B.3
  • 12
    • 1542344031 scopus 로고    scopus 로고
    • Role of binding of plectin to the integrin beta44 subunit in the assembly of hemidesmosomes
    • Koster J, van Wilpe S, Kuikman I et al. (2004) Role of binding of plectin to the integrin beta44 subunit in the assembly of hemidesmosomes. Mol Biol Cell 15:1211-233
    • (2004) Mol Biol Cell , vol.15 , pp. 1211-1233
    • Koster, J.1    Van Wilpe, S.2    Kuikman, I.3
  • 13
    • 9444272226 scopus 로고    scopus 로고
    • Loss of plectin causes epidermolysis bullosa with muscular dystrophy: CDNA cloning and genomic organization
    • McLean WH, Pulkkinen L, Smith FJ et al. (1996) Loss of plectin causes epidermolysis bullosa with muscular dystrophy: CDNA cloning and genomic organization. Genes Dev 10:1724-355
    • (1996) Genes Dev , vol.10 , pp. 1724-1365
    • McLean, W.H.1    Pulkkinen, L.2    Smith, F.J.3
  • 14
    • 70450263531 scopus 로고    scopus 로고
    • Plectin gene defects lead to various forms of epidermolysis bullosa simplex
    • Rezniczek GA, Walko G, Wiche G (2010) Plectin gene defects lead to various forms of epidermolysis bullosa simplex. Dermatol Clin 28:33-411
    • (2010) Dermatol Clin , vol.28 , pp. 33-411
    • Rezniczek, G.A.1    Walko, G.2    Wiche, G.3
  • 15
    • 84855265955 scopus 로고    scopus 로고
    • Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna
    • Walko G, Vukasinovic N, Gross K et al. (2011) Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna. PLoS Genet 7:e10023966
    • (2011) PLoS Genet , vol.7
    • Walko, G.1    Vukasinovic, N.2    Gross, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.