메뉴 건너뛰기




Volumn 5, Issue 1, 1996, Pages 1-11

Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa

Author keywords

Epidermolysis bullosa; Gene therapy; Genodermatoses; Mutation analysis

Indexed keywords

CYTOLOGY; EPIDERMOLYSIS BULLOSA; GENE THERAPY; HUMAN; HUMAN CELL; HUMAN TISSUE; MOLECULAR BIOLOGY; MUTATION; REVIEW;

EID: 0030070588     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1996.tb00086.x     Document Type: Review
Times cited : (186)

References (19)
  • 2
    • 0026067709 scopus 로고
    • Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: A consensus report by the subcommittee on diagnosis and classifiction of the national epidermolysis bullosa registry
    • Fine J-D, Bauer E A, Briggman R A et al. Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa: a consensus report by the Subcommittee on Diagnosis and Classifiction of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 1991: 24: 119-135.
    • (1991) J Am Acad Dermatol , vol.24 , pp. 119-135
    • Fine, J.-D.1    Bauer, E.A.2    Briggman, R.A.3
  • 3
    • 0026563314 scopus 로고
    • Molecular genetics of epidermolysis bullosa
    • Epstein Jr E H. Molecular genetics of epidermolysis bullosa. Science 1992: 256: 799-803.
    • (1992) Science , vol.256 , pp. 799-803
    • Epstein Jr., E.H.1
  • 4
    • 0026676248 scopus 로고
    • Genetic skin disorders of keratin
    • Fuchs E. Genetic skin disorders of keratin. J Invest Dermatol 1992: 99: 671-674.
    • (1992) J Invest Dermatol , vol.99 , pp. 671-674
    • Fuchs, E.1
  • 5
    • 0027502157 scopus 로고
    • Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: Correlation with type VII collagen expression
    • McGrath J A, Ishida-Yamamoto A, O'Grady A, Leigh I M, Eady RAJ. Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression. J Invest Dermatol 1993: 100: 366-372.
    • (1993) J Invest Dermatol , vol.100 , pp. 366-372
    • McGrath, J.A.1    Ishida-Yamamoto, A.2    O'Grady, A.3    Leigh, I.M.4    Eady, R.A.J.5
  • 6
    • 0028180092 scopus 로고
    • Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
    • Pulkkinen L, Christiano A M, Airenne T, Haakana H, Tryggvason K, Uitto J. Mutations in the γ2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nature Genet 1994: 6: 293-298.
    • (1994) Nature Genet , vol.6 , pp. 293-298
    • Pulkkinen, L.1    Christiano, A.M.2    Airenne, T.3    Haakana, H.4    Tryggvason, K.5    Uitto, J.6
  • 7
    • 18344413641 scopus 로고
    • Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (laminin-5)
    • Aberdam D, Galliano M F, Vailly J et al. Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the γ2 subunit of nicein/kalinin (laminin-5). Nature Genet 1994: 6: 299-304.
    • (1994) Nature Genet , vol.6 , pp. 299-304
    • Aberdam, D.1    Galliano, M.F.2    Vailly, J.3
  • 8
    • 0028568985 scopus 로고
    • A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
    • Pulkkinen L, Christiano A M, Gerecke D et al. A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 1994: 24: 357-360.
    • (1994) Genomics , vol.24 , pp. 357-360
    • Pulkkinen, L.1    Christiano, A.M.2    Gerecke, D.3
  • 9
    • 0028909571 scopus 로고
    • Identification of a homozygous one basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence
    • Vailly J, Pulkkinen L, Miquel C et al. Identification of a homozygous one basepair deletion in exon 14 of the LAMB3 gene in a patient with Herlitz junctional epidermolysis bullosa and prenatal diagnosis in a family at risk for recurrence. J Invest Dermatol 1995: 104: 462-466.
    • (1995) J Invest Dermatol , vol.104 , pp. 462-466
    • Vailly, J.1    Pulkkinen, L.2    Miquel, C.3
  • 10
    • 0028919592 scopus 로고
    • Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa
    • McGrath J A, Pulkkinen L, Christiano A M, Leigh I M, Eady R A J, Uitto J. Altered laminin 5 expression due to mutations in the gene encoding the β3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 1995: 104: 467-474.
    • (1995) J Invest Dermatol , vol.104 , pp. 467-474
    • McGrath, J.A.1    Pulkkinen, L.2    Christiano, A.M.3    Leigh, I.M.4    Eady, R.A.J.5    Uitto, J.6
  • 11
    • 0029044045 scopus 로고
    • A homozygous nonsense mutation in the α3 chain gene of Iminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa
    • Kivirikko S, McGrath J A, Baudoin C, et al. A homozygous nonsense mutation in the α3 chain gene of Iminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa. Hum Mol Genet 1995: 4: 959-962.
    • (1995) Hum Mol Genet , vol.4 , pp. 959-962
    • Kivirikko, S.1    McGrath, J.A.2    Baudoin, C.3
  • 12
    • 0028989243 scopus 로고
    • Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia
    • Vidal F, Aberdam D, Miquel C et al. Integrin β4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nature Genet 1995: 10: 229-234.
    • (1995) Nature Genet , vol.10 , pp. 229-234
    • Vidal, F.1    Aberdam, D.2    Miquel, C.3
  • 13
    • 0027477628 scopus 로고
    • Cloning of type XVII collagen: Complementary and genomic DNA sequences of mouse 180-kilodalton bullous pemphigoid antigen (BPAG2) predict an interrupted collagenous domain, a transmembrane segment, and unusual features in the 5′-end of the gene and the 3′-untranslated region of the mRNA
    • Li K, Tamai K, Tan E M L, Uitto J. Cloning of type XVII collagen: complementary and genomic DNA sequences of mouse 180-kilodalton bullous pemphigoid antigen (BPAG2) predict an interrupted collagenous domain, a transmembrane segment, and unusual features in the 5′-end of the gene and the 3′-untranslated region of the mRNA. J Biol Chem 1993: 268: 8825-8834.
    • (1993) J Biol Chem , vol.268 , pp. 8825-8834
    • Li, K.1    Tamai, K.2    Tan, E.M.L.3    Uitto, J.4
  • 14
    • 0029121987 scopus 로고
    • Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa
    • McGrath J A, Gatalica B, Christiano A M et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nature Genet 1995: 11: 83-86.
    • (1995) Nature Genet , vol.11 , pp. 83-86
    • McGrath, J.A.1    Gatalica, B.2    Christiano, A.M.3
  • 15
    • 0027296584 scopus 로고
    • Type VII collagen, anchoring fibrils and epidermolysis bullosa
    • Burgeson, R E. Type VII collagen, anchoring fibrils and epidermolysis bullosa. J Invest Dermatol 1993: 101: 252-255.
    • (1993) J Invest Dermatol , vol.101 , pp. 252-255
    • Burgeson, R.E.1
  • 16
    • 0026669319 scopus 로고
    • Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa
    • Uitto J, Christiano A M. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa. J Clin Invest 1992: 90: 687-692.
    • (1992) J Clin Invest , vol.90 , pp. 687-692
    • Uitto, J.1    Christiano, A.M.2
  • 17
    • 0027486159 scopus 로고
    • The molecular genetics of basement membrane diseases
    • Marinkovich M P. The molecular genetics of basement membrane diseases. Arch Dermatol 1993: 129: 1557-1565.
    • (1993) Arch Dermatol , vol.129 , pp. 1557-1565
    • Marinkovich, M.P.1
  • 18
    • 0027430326 scopus 로고
    • Ultrastructural findings in epidermolysis bullosa
    • Smith L T. Ultrastructural findings in epidermolysis bullosa. Arch Dermatol 1993: 129: 1578-1584.
    • (1993) Arch Dermatol , vol.129 , pp. 1578-1584
    • Smith, L.T.1
  • 19
    • 0026052915 scopus 로고
    • Human bullous pemphigoid antigen (BPAG1): Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains
    • Sawamura D, Li K, Chu M-L, Uitto J. Human bullous pemphigoid antigen (BPAG1): amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains. J Biol Chem 1991: 266: 17784-17790.
    • (1991) J Biol Chem , vol.266 , pp. 17784-17790
    • Sawamura, D.1    Li, K.2    Chu, M.-L.3    Uitto, J.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.