메뉴 건너뛰기




Volumn 112, Issue 5, 1999, Pages 815-817

Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1)

Author keywords

Epidermolysis bullosa; Type VII collagen

Indexed keywords

ARTICLE; CASE REPORT; EPIDERMOLYSIS BULLOSA DYSTROPHICA; FEMALE; GENE LOCUS; GENETIC LINKAGE; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 0032925791     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1747.1999.00568.x     Document Type: Article
Times cited : (19)

References (15)
  • 1
    • 0023279060 scopus 로고
    • Autosomal dominant epidermolysis bullosa dystrophica: Are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene?
    • Bouwes Bavinck JN, van Haeringen A, Ruiter D, van der Schroeff JG: Autosomal dominant epidermolysis bullosa dystrophica: are the Cockayne-Touraine, the Pasini and the Bart-types different expressions of the same mutant gene? Clin Genet 31:416-424, 1987
    • (1987) Clin Genet , vol.31 , pp. 416-424
    • Bouwes Bavinck, J.N.1    Van Haeringen, A.2    Ruiter, D.3    Van Der Schroeff, J.G.4
  • 2
    • 0030796872 scopus 로고    scopus 로고
    • Epidermolysis bullosa pruriginosa
    • Cambiaghi S: Epidermolysis bullosa pruriginosa. Dermatology 195:65-68, 1997.
    • (1997) Dermatology , vol.195 , pp. 65-68
    • Cambiaghi, S.1
  • 3
    • 0028348553 scopus 로고
    • Dominant dystrophic epidermolysis bullosa: Identification of a Gly→Ser substitution in the triple-helical domain of type VII collagen
    • Christiano AM, Ryynanen M, Uitto J: Dominant dystrophic epidermolysis bullosa: identification of a Gly→Ser substitution in the triple-helical domain of type VII collagen. Proc Natl Acad Sci USA 91:3549-3553, 1994
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 3549-3553
    • Christiano, A.M.1    Ryynanen, M.2    Uitto, J.3
  • 4
    • 0029918880 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
    • Christiano AM, McGrath 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 58:671-681, 1995
    • (1995) Am J Hum Genet , vol.58 , pp. 671-681
    • Christiano, A.M.1    McGrath, J.A.2    Tan, K.C.3    Uitto, J.4
  • 5
    • 0025279994 scopus 로고
    • Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa
    • Fine JD, Horiguchi Y, Stein DH, Esterly NB, Leigh IM: Intraepidermal type VII collagen. Evidence for abnormal intracytoplasmic processing of a major basement membrane protein in rare patients with dominant and possibly localized recessive forms of dystrophic epidermolysis bullosa [see comments]. J Am Acad Dermatol 22:188-195, 1990
    • (1990) J Am Acad Dermatol , vol.22 , pp. 188-195
    • Fine, J.D.1    Horiguchi, Y.2    Stein, D.H.3    Esterly, N.B.4    Leigh, I.M.5
  • 6
    • 0026067709 scopus 로고
    • Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the subcommittee on diagnosis and classification of the national epidermolysis bullosa registry
    • Fine JD, Bauer EA, Briggaman RA, et al: Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry [see comments]. J Am Acad Dermatol 24:119-135, 1991
    • (1991) J Am Acad Dermatol , vol.24 , pp. 119-135
    • Fine, J.D.1    Bauer, E.A.2    Briggaman, R.A.3
  • 7
    • 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
    • Ganguly A, Rock M, 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 90:10325-10329, 1993
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.2    Prockop, D.J.3
  • 9
    • 0028304104 scopus 로고
    • Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa
    • Gedde-Dahl T Jr, Winberg JO: Neonatal retention of type VII collagen, transient bullous dermolysis of the newborn and recessive epidermolysis bullosa dystrophica inversa [letter]. Br J Dermatol 130:685-686, 1994
    • (1994) Br J Dermatol , vol.130 , pp. 685-686
    • Gedde-Dahl T., Jr.1    Winberg, J.O.2
  • 10
    • 9844267317 scopus 로고    scopus 로고
    • Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic
    • Kon A, Nomura H, Pulkkinen L, Sawamura D, Hashimoto I, Uitto J: Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic. J Invest Dermatol 109:684-687, 1997
    • (1997) J Invest Dermatol , vol.109 , pp. 684-687
    • Kon, A.1    Nomura, H.2    Pulkkinen, L.3    Sawamura, D.4    Hashimoto, I.5    Uitto, J.6
  • 11
    • 0030990515 scopus 로고    scopus 로고
    • A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa
    • Lee JYY, Pulkkinen L, Liu HS, Chen YF, Uitto J: A glycine-to-arginine substitution in the triple-helical domain of type VII collagen in a family with dominant dystrophic epidermolysis bullosa pruriginosa. J Invest Dermatol 108:947-949, 1997
    • (1997) J Invest Dermatol , vol.108 , pp. 947-949
    • Lee, J.Y.Y.1    Pulkkinen, L.2    Liu, H.S.3    Chen, Y.F.4    Uitto, J.5
  • 12
    • 0028234038 scopus 로고
    • Epidermolysis bullosa pruriginosa: Dystrophic epidermolysis bullosa with distinctive clinicopathological features
    • McGrath JA, Schofield OM, Eady RA: Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features. Br J Dermatol 130:617-625, 1994
    • (1994) Br J Dermatol , vol.130 , pp. 617-625
    • McGrath, J.A.1    Schofield, O.M.2    Eady, R.A.3
  • 13
    • 0023035458 scopus 로고
    • Type VII collagen is a major structural component of anchoring fibrils
    • Sakai LY, Keene DR, Morris NP, Burgeson RE: Type VII collagen is a major structural component of anchoring fibrils. J Cell Biol 105:1577-1586, 1986
    • (1986) J Cell Biol , vol.105 , pp. 1577-1586
    • Sakai, L.Y.1    Keene, D.R.2    Morris, N.P.3    Burgeson, R.E.4
  • 14
    • 0021802802 scopus 로고
    • Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique
    • Fidman MJ, Eady RA: Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique. J Invest Dermatol 84:374-377, 1985
    • (1985) J Invest Dermatol , vol.84 , pp. 374-377
    • Tidman, M.J.1    Eady, R.A.2
  • 15
    • 0028589635 scopus 로고
    • Molecular basis for the dystrophic forms of epidermolysis bullosa: Mutations in the type VII collagen gene
    • Uitto J, Christiano AM: Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene. Arch Dermatol Res 287:16-22, 1994
    • (1994) Arch Dermatol Res , vol.287 , pp. 16-22
    • Uitto, J.1    Christiano, A.M.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.