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Volumn 20, Issue 5, 2000, Pages 371-377

DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex

Author keywords

Epidermolysis bullosa simplex; Keratin 14; Mutation detection; Prenatal diagnosis

Indexed keywords

DNA; KERATIN;

EID: 0034102640     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(200005)20:5<371::AID-PD818>3.0.CO;2-5     Document Type: Article
Times cited : (25)

References (27)
  • 1
    • 0023545331 scopus 로고
    • The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines
    • Albers K, Fuchs E. 1987. The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines. J Cell Biol 105: 791-806.
    • (1987) J Cell Biol , vol.105 , pp. 791-806
    • Albers, K.1    Fuchs, E.2
  • 3
    • 0026345962 scopus 로고
    • Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities
    • Bonifas JM, Rothman AL, Epstein EH. 1991. Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science 254: 1202-1205.
    • (1991) Science , vol.254 , pp. 1202-1205
    • Bonifas, J.M.1    Rothman, A.L.2    Epstein, E.H.3
  • 4
    • 0030455978 scopus 로고    scopus 로고
    • Human keratin diseases: Hereditary fragility of specific epithelial tissues
    • Corden LD, McLean WHI. 1996. Human keratin diseases: hereditary fragility of specific epithelial tissues. Exp Dermatol 5: 297-307.
    • (1996) Exp Dermatol , vol.5 , pp. 297-307
    • Corden, L.D.1    McLean, W.H.I.2
  • 6
    • 0025861772 scopus 로고
    • Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
    • Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E. 1991. Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66: 1301-1311.
    • (1991) Cell , vol.66 , pp. 1301-1311
    • Coulombe, P.A.1    Hutton, M.E.2    Letai, A.3    Hebert, A.4    Paller, A.S.5    Fuchs, E.6
  • 7
    • 0343659999 scopus 로고
    • Genodermatoses
    • Brock D, Rodeck CH, Ferguson-Smith M (eds). Churchill Livingstone: Edinburgh
    • Eady RAJ. 1992. Genodermatoses. In Prenatal Diagnosis and Screening, Brock D, Rodeck CH, Ferguson-Smith M (eds). Churchill Livingstone: Edinburgh; 503-513.
    • (1992) Prenatal Diagnosis and Screening , pp. 503-513
    • Eady, R.A.J.1
  • 8
    • 0031715041 scopus 로고    scopus 로고
    • A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex
    • Galligan P, Listwan P, Siller GM, Rothnagel JA. 1998. A novel mutation in the L12 domain of keratin 5 in the Koebner variant of epidermolysis bullosa simplex. J Invest Dermatol 111: 524-527.
    • (1998) J Invest Dermatol , vol.111 , pp. 524-527
    • Galligan, P.1    Listwan, P.2    Siller, G.M.3    Rothnagel, J.A.4
  • 9
    • 0021007795 scopus 로고
    • Amino acid sequence data on glial fibrillary acidic protein (GFA); implications for the subdivision of intermediate filaments into epithelial and non-epithelial members
    • Geisler N, Weber K. 1983. Amino acid sequence data on glial fibrillary acidic protein (GFA); implications for the subdivision of intermediate filaments into epithelial and non-epithelial members. EMBO J 2: 2059-2063.
    • (1983) EMBO J , vol.2 , pp. 2059-2063
    • Geisler, N.1    Weber, K.2
  • 10
    • 0025882273 scopus 로고
    • Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain
    • Hatzfeld M, Weber K. 1991. Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain. J Cell Sci 99: 351-362.
    • (1991) J Cell Sci , vol.99 , pp. 351-362
    • Hatzfeld, M.1    Weber, K.2
  • 11
    • 0034021678 scopus 로고    scopus 로고
    • The clinical spectrum of epidermolysis bullosa simplex
    • in press
    • Horn HM, Tidman MJ. The clinical spectrum of epidermolysis bullosa simplex. Brit J Dermatol in press.
    • Brit J Dermatol
    • Horn, H.M.1    Tidman, M.J.2
  • 12
    • 0030890858 scopus 로고    scopus 로고
    • A mutation in the VI domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation
    • Irvine AD, McKenna KE, Jenkinson H, Hughes AE. 1997a. A mutation in the VI domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation. J Invest Dermatol 108: 809-810.
    • (1997) J Invest Dermatol , vol.108 , pp. 809-810
    • Irvine, A.D.1    McKenna, K.E.2    Jenkinson, H.3    Hughes, A.E.4
  • 13
    • 0031434675 scopus 로고    scopus 로고
    • A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara
    • Irvine AD, McKenna KE, Bingham A, Nevin NC, Hughes AE. 1997b. A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. J Invest Dermatol 109: 815-816.
    • (1997) J Invest Dermatol , vol.109 , pp. 815-816
    • Irvine, A.D.1    McKenna, K.E.2    Bingham, A.3    Nevin, N.C.4    Hughes, A.E.5
  • 15
    • 0026511054 scopus 로고
    • Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations
    • Letai A, Coulombe PA, Fuchs E. 1992. Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol 116: 1181-1195.
    • (1992) J Cell Biol , vol.116 , pp. 1181-1195
    • Letai, A.1    Coulombe, P.A.2    Fuchs, E.3
  • 16
    • 0031767288 scopus 로고    scopus 로고
    • Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex
    • Muller FB, Kuster W, Bruckner-Tuderman L, Korge BP. 1998. Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex. J Invest Dermatol 111: 900-902.
    • (1998) J Invest Dermatol , vol.111 , pp. 900-902
    • Muller, F.B.1    Kuster, W.2    Bruckner-Tuderman, L.3    Korge, B.P.4
  • 17
    • 0009723970 scopus 로고    scopus 로고
    • A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case
    • Muller FB, Anton-Lamprecht I, Kuster W, Korge BP. 1999. A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case. J Invest Dermatol 112: 988-990.
    • (1999) J Invest Dermatol , vol.112 , pp. 988-990
    • Muller, F.B.1    Anton-Lamprecht, I.2    Kuster, W.3    Korge, B.P.4
  • 20
    • 0032962193 scopus 로고    scopus 로고
    • Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling Meara epidermolysis bullosa simplex
    • Rugg EL, Rachet-Prehu MO, Rochat A, Barrandon Y, Goossens M, Lane EB, Hovnanian A. 1999. Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling Meara epidermolysis bullosa simplex. Eur J Hum Genet 7: 293-300.
    • (1999) Eur J Hum Genet , vol.7 , pp. 293-300
    • Rugg, E.L.1    Rachet-Prehu, M.O.2    Rochat, A.3    Barrandon, Y.4    Goossens, M.5    Lane, E.B.6    Hovnanian, A.7
  • 22
    • 0026512912 scopus 로고
    • PASA is a general method for rapid detection of known single-base changes
    • Sommer SS, Groszbach AR, Bottema CDK. 1992. PASA is a general method for rapid detection of known single-base changes. Biotechniques 12: 82-87.
    • (1992) Biotechniques , vol.12 , pp. 82-87
    • Sommer, S.S.1    Groszbach, A.R.2    Bottema, C.D.K.3
  • 24
    • 0027316910 scopus 로고
    • A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling Meara: Implication for diagnosis
    • Stephens K, Sybert VP, Wijsman EM, Erlich P, Spencer A. 1993. A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling Meara: implication for diagnosis. J Ivest Dermatol 101: 240-243.
    • (1993) J Ivest Dermatol , vol.101 , pp. 240-243
    • Stephens, K.1    Sybert, V.P.2    Wijsman, E.M.3    Erlich, P.4    Spencer, A.5
  • 25
    • 0031052765 scopus 로고    scopus 로고
    • Primers for exon-specific amplification of the KRT5 gene: Identification of novel and recurrent mutations in epidermolysis bullosa simplex patients
    • Stephens K, Ehrlich P, Weaver M, Le R, Spencer A, Sybert V. 1997. Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. J Invest Dermatol 108: 349-353.
    • (1997) J Invest Dermatol , vol.108 , pp. 349-353
    • Stephens, K.1    Ehrlich, P.2    Weaver, M.3    Le, R.4    Spencer, A.5    Sybert, V.6
  • 26
    • 0027233020 scopus 로고
    • Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12
    • Wanner R, Forster H-H, Tilmans I, Mischke D. 1993. Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12. J Ivest Dermatol 100: 735-741.
    • (1993) J Ivest Dermatol , vol.100 , pp. 735-741
    • Wanner, R.1    Forster, H.-H.2    Tilmans, I.3    Mischke, D.4
  • 27
    • 0025013886 scopus 로고
    • Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M
    • Wong PC, Cleveland DW. 1990. Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M. J Cell Biol 111: 1987-2003.
    • (1990) J Cell Biol , vol.111 , pp. 1987-2003
    • Wong, P.C.1    Cleveland, D.W.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.