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Volumn 138, Issue 5, 1998, Pages 852-858

Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa

Author keywords

[No Author keywords available]

Indexed keywords

COLLAGEN TYPE 7; DNA; HETERODUPLEX;

EID: 0031748548     PISSN: 00070963     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2133.1998.02225.x     Document Type: Article
Times cited : (15)

References (35)
  • 1
    • 0029705828 scopus 로고    scopus 로고
    • Molecular diagnosis of inherited skin diseases: The paradigm of dystrophic epidermolysis bullosa
    • Christiane AM, Uitto J. Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa, Adv Dermatol 1996: 11; 199-213.
    • (1996) Adv Dermatol , vol.11 , pp. 199-213
    • Christiane, A.M.1    Uitto, J.2
  • 2
    • 0030070588 scopus 로고    scopus 로고
    • Molecular complexity of the basement membrane zone, Revelations from the paradigms of epidermolysis bullosa
    • Christiane AM, Uitto J. Molecular complexity of the basement membrane zone, Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 1996; 5: 1-11.
    • (1996) Exp Dermatol , vol.5 , pp. 1-11
    • Christiane, A.M.1    Uitto, J.2
  • 3
    • 0021802802 scopus 로고
    • Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique
    • Tidman MJ, Eady RAJ. Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique, J Invest Dermatol 1985; 84: 374-7.
    • (1985) J Invest Dermatol , vol.84 , pp. 374-377
    • Tidman, M.J.1    Eady, R.A.J.2
  • 4
    • 0027502157 scopus 로고
    • Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: Correlation with type VII collagen expression
    • McGrath JA, Ishida-Yamamoto A. O'Grady A et al. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. J Invest Dermatol 1993; 100: 366-72.
    • (1993) J Invest Dermatol , vol.100 , pp. 366-372
    • McGrath, J.A.1    Ishida-Yamamoto, A.2    O'Grady, A.3
  • 5
    • 0002946082 scopus 로고    scopus 로고
    • Epidermolysis bullosa
    • Rimoin DL, Connor JM, Pyeritt RE, eds, 3rd edn. London: Churchill Livingstone.
    • Gedde-Dahl T Jr, Anton-Lamprecht I. Epidermolysis bullosa. In: Principles and Practice of Medical Genetics (Rimoin DL, Connor JM, Pyeritt RE, eds), 3rd edn. London: Churchill Livingstone. 1996; 1254-78.
    • (1996) Principles and Practice of Medical Genetics , pp. 1254-1278
    • Gedde-Dahl Jr., T.1    Anton-Lamprecht, I.2
  • 6
    • 0027377608 scopus 로고
    • A homozygous frameshift mutation in COL7A1 predicting a shortened protein in the generalized mutilating (Hallopeau-Siemens) form of recessive dystrophic epidermolysis bullosa
    • Hilal L, Rochat A, Duquesnoy P et al, A homozygous frameshift mutation in COL7A1 predicting a shortened protein in the generalized mutilating (Hallopeau-Siemens) form of recessive dystrophic epidermolysis bullosa. Nature Genet 1993; 5: 287-93.
    • (1993) Nature Genet , vol.5 , pp. 287-293
    • Hilal, L.1    Rochat, A.2    Duquesnoy, P.3
  • 7
    • 0028048490 scopus 로고
    • Recurrent nonsense mutations within type VII collagen in patients with severe mutilating recessive dystrophic epidermolysis bullosa
    • Hovnanian A, Hilal L, Blanchet-Bardon C et al. Recurrent nonsense mutations within type VII collagen in patients with severe mutilating recessive dystrophic epidermolysis bullosa. Am J Hum Genet 1994; 55: 289-96.
    • (1994) Am J Hum Genet , vol.55 , pp. 289-296
    • Hovnanian, A.1    Hilal, L.2    Blanchet-Bardon, C.3
  • 8
    • 0028040518 scopus 로고
    • A novel homozygous point mutation in the type VII collagen gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa
    • Dunnill MGS, Richards AJ. Milana G et al. A novel homozygous point mutation in the type VII collagen gene (COL7A1) in two cousins with recessive dystrophic epidermolysis bullosa. Hum Mol Genet 1994; 3: 1693-4.
    • (1994) Hum Mol Genet , vol.3 , pp. 1693-1694
    • Dunnill, M.G.S.1    Richards, A.J.2    Milana, G.3
  • 9
    • 0028361030 scopus 로고
    • Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa
    • Christiano AM, Anhalt G, Gibbons S et al. Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics 1994; 21: 160-8.
    • (1994) Genomics , vol.21 , pp. 160-168
    • Christiano, A.M.1    Anhalt, G.2    Gibbons, S.3
  • 10
    • 0028954830 scopus 로고
    • Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa
    • Christiano AM, Suga Y, Greenspan DS et al. Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa. J Clin Invest 1995; 95: 1328-34.
    • (1995) J Clin Invest , vol.95 , pp. 1328-1334
    • Christiano, A.M.1    Suga, Y.2    Greenspan, D.S.3
  • 11
    • 0028348553 scopus 로고
    • Dominant dystrophic epidermolysis bullosa: Identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen
    • Christiano AM, Ryynänen M, Uitto J. Dominant dystrophic epidermolysis bullosa: identification of a glycine-to-serine substitution in the triple-helical domain of type VII collagen. Proc Natl Acad Sci USA 1994; 91: 3549-53.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 3549-3553
    • Christiano, A.M.1    Ryynänen, M.2    Uitto, J.3
  • 12
    • 0029918880 scopus 로고    scopus 로고
    • Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance
    • Christiane AM, McOaIh JA, Tan KC, Uitto J. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. Am J Hum Genet 1996; 58: 671-81.
    • (1996) Am J Hum Genet , vol.58 , pp. 671-681
    • Christiane, A.M.1    McOaih, J.A.2    Tan, K.C.3    Uitto, J.4
  • 13
    • 0027210982 scopus 로고
    • A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa
    • Christiano AM, Greenspan DS, Hoffman GG et al. A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nature Genet 1993; 4: 62-6.
    • (1993) Nature Genet , vol.4 , pp. 62-66
    • Christiano, A.M.1    Greenspan, D.S.2    Hoffman, G.G.3
  • 14
    • 0030035413 scopus 로고    scopus 로고
    • Clinicopathological correlations of compound heterozygous COL7A1 mutations in three unrelated patients with recessive dystrophic epidermolysis bullosa
    • Dunnill MGS, McGrath JA, Richards AJ et al. Clinicopathological correlations of compound heterozygous COL7A1 mutations in three unrelated patients with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1996; 107: 171-7.
    • (1996) J Invest Dermatol , vol.107 , pp. 171-177
    • Dunnill, M.G.S.1    McGrath, J.A.2    Richards, A.J.3
  • 15
    • 0030058930 scopus 로고    scopus 로고
    • Molecular basis of recessive dystrophic epidermolysis bullosa: Genotype/phenotype correlation in a case of moderate clinical severity
    • Shimizu H, McGrath JA, Christiano AM et al. Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity. J Invest Dermatol 1996; 106: 119-24.
    • (1996) J Invest Dermatol , vol.106 , pp. 119-124
    • Shimizu, H.1    McGrath, J.A.2    Christiano, A.M.3
  • 16
    • 0031052795 scopus 로고    scopus 로고
    • Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa
    • Tamai K, Ishida-Yamamoto A, Matsuo S et al. Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa. Lab Invest 1997; 76: 209-17.
    • (1997) Lab Invest , vol.76 , pp. 209-217
    • Tamai, K.1    Ishida-Yamamoto, A.2    Matsuo, S.3
  • 17
    • 0028856628 scopus 로고
    • Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain
    • Bruckner-Tuderman L, Nilssen O, Zimmermann DR et al. Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain. J Cell Biol 1995: 131: 551-9.
    • (1995) J Cell Biol , vol.131 , pp. 551-559
    • Bruckner-Tuderman, L.1    Nilssen, O.2    Zimmermann, D.R.3
  • 18
    • 0029914347 scopus 로고    scopus 로고
    • Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa
    • Christiano AM, McClrath JA, Uitto J. Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1996; 106: 766-70.
    • (1996) J Invest Dermatol , vol.106 , pp. 766-770
    • Christiano, A.M.1    McClrath, J.A.2    Uitto, J.3
  • 20
    • 0028244102 scopus 로고
    • Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene
    • Christiano AM, Hoffman G, Chung-Honet LC et al. Structural organization of the human type VII collagen gene (COL7A1), comprised of more exons than any previously characterized gene. Genomics 1994; 21: 169-79.
    • (1994) Genomics , vol.21 , pp. 169-179
    • Christiano, A.M.1    Hoffman, G.2    Chung-Honet, L.C.3
  • 21
    • 0027433113 scopus 로고
    • Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: Evidence for solvent-induced bends in DNA heteroduplexes
    • Gianguly A, Rock MJ, Prockop DJ. Conformation-sensitive gel electrophoresis for rapid detection of single base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci USA 1993; 90: 10325-9.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Gianguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 22
    • 0027499770 scopus 로고
    • Human gene mutations affecting RNA processing and translation
    • Cooper DN. Human gene mutations affecting RNA processing and translation. Ann Med 1993; 85: 11-17.
    • (1993) Ann Med , vol.85 , pp. 11-17
    • Cooper, D.N.1
  • 23
    • 0029330286 scopus 로고
    • When cells stop making sense: Effect of nonsense codons on RNA metabolism in vertebrate cells
    • Maquat LE. When cells stop making sense: effect of nonsense codons on RNA metabolism in vertebrate cells. RNA 1995: 1: 453-65.
    • (1995) RNA , vol.1 , pp. 453-465
    • Maquat, L.E.1
  • 24
    • 0030850860 scopus 로고    scopus 로고
    • Recurrent mutations in the type VII collagen gene in patients with recessive dystrophic epidermolysis bullosa
    • Mellerio JE. Dunnill MGS. Allison W et al. Recurrent mutations in the type VII collagen gene in patients with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1997; 109: 246-9.
    • (1997) J Invest Dermatol , vol.109 , pp. 246-249
    • Mellerio, J.E.1    Dunnill, M.G.S.2    Allison, W.3
  • 25
    • 0030010189 scopus 로고    scopus 로고
    • A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa
    • Christiano AM, D'Alessio M, Paradisi M et al. A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa. J Invest Dermatol 1996; 106: 679-84.
    • (1996) J Invest Dermatol , vol.106 , pp. 679-684
    • Christiano, A.M.1    D'Alessio, M.2    Paradisi, M.3
  • 26
    • 0026067709 scopus 로고
    • Revised clinical and laboratory criteria for subtypes of epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry
    • Fine J-D, Bauer EA, Briggaman RA et al. Revised clinical and laboratory criteria for subtypes of epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 1991; 24: 119-35.
    • (1991) J Am Acad Dermatol , vol.24 , pp. 119-135
    • Fine, J.-D.1    Bauer, E.A.2    Briggaman, R.A.3
  • 27
    • 0029080898 scopus 로고
    • Epidermolysis bullosa. Application of epidemiologic principles to the study of a group of rare diseases via a disease registry
    • Fine J-D. Epidermolysis bullosa. Application of epidemiologic principles to the study of a group of rare diseases via a disease registry. Dermatol Clinics 1995; 13: 659-70.
    • (1995) Dermatol Clinics , vol.13 , pp. 659-670
    • Fine, J.-D.1
  • 28
    • 7144249950 scopus 로고    scopus 로고
    • Hardy-Weinberg law and its applications
    • Vogel F. Motulsky AG. eds. Berlin: Springer-Verlag.
    • Vogel F, Motulsky AG. Hardy-Weinberg law and its applications. In: Human Genetics; Problems and Approaches. 3rd edn (Vogel F. Motulsky AG. eds). Berlin: Springer-Verlag. 1996: 147-57.
    • (1996) Human Genetics; Problems and Approaches. 3rd Edn , pp. 147-157
    • Vogel, F.1    Motulsky, A.G.2
  • 29
    • 0028939042 scopus 로고
    • DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence
    • Hovnanian A, Hilal L. Blanchet-Bardon C et al. DNA-based prenatal diagnosis of generalized recessive dystrophic epidermolysis bullosa in six pregnancies at risk for recurrence. J Invest Dermatol 1995; 104: 456-61.
    • (1995) J Invest Dermatol , vol.104 , pp. 456-461
    • Hovnanian, A.1    Hilal, L.2    Blanchet-Bardon, C.3
  • 30
    • 0029669182 scopus 로고    scopus 로고
    • Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)
    • Christiano AM, LaForgia S, Paller AS et al. Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1). Mol Med 1996; 2: 59-76.
    • (1996) Mol Med , vol.2 , pp. 59-76
    • Christiano, A.M.1    LaForgia, S.2    Paller, A.S.3
  • 31
    • 0026713048 scopus 로고
    • Birth of a normal girl after in vitro fertilization and preimplantation genetic testing for cystic fibrosis
    • Handyside AH, Lesko JG, Tarin JJ et al. Birth of a normal girl after in vitro fertilization and preimplantation genetic testing for cystic fibrosis. N Engl J Med 1992; 327: 905-9.
    • (1992) N Engl J Med , vol.327 , pp. 905-909
    • Handyside, A.H.1    Lesko, J.G.2    Tarin, J.J.3
  • 32
    • 0030904122 scopus 로고    scopus 로고
    • Preimplantation genetic diagnosis: Strategies and surprises
    • Handyside AH, Delhanty JDA. Preimplantation genetic diagnosis: strategies and surprises. Trends Genet 1997; 13: 270-5.
    • (1997) Trends Genet , vol.13 , pp. 270-275
    • Handyside, A.H.1    Delhanty, J.D.A.2
  • 33
    • 0028631085 scopus 로고
    • Systemic delivery of secreted protein by grafts of epidermal keratinocytes: Prospects for keratinocyte gene therapy
    • Fenjves ES, Smith J, Zaradic S, Taichman LB. Systemic delivery of secreted protein by grafts of epidermal keratinocytes: prospects for keratinocyte gene therapy. Hum Gene Ther 1994; 5: 1241-8.
    • (1994) Hum Gene Ther , vol.5 , pp. 1241-1248
    • Fenjves, E.S.1    Smith, J.2    Zaradic, S.3    Taichman, L.B.4
  • 34
  • 35
    • 0027987902 scopus 로고
    • Ribozyme-mediated repair of defective mRNA hy targeted trans-splicing
    • Sullenger BA, Cech TR. Ribozyme-mediated repair of defective mRNA hy targeted trans-splicing, Nature 1994; 371: 619-22.
    • (1994) Nature , vol.371 , pp. 619-622
    • Sullenger, B.A.1    Cech, T.R.2


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