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Volumn 108, Issue 6, 1997, Pages 943-946

Novel ITGB4 mutations in a patient with junctional epidermolysis bullosa-pyloric atresia syndrome and altered basement membrane zone immunofluorescence for the α6β4 integrin

Author keywords

Blistering skin diseases; Hemidesmosomes; 6 4 integrin mutations

Indexed keywords

DNA; INTEGRIN;

EID: 0030905241     PISSN: 0022202X     EISSN: None     Source Type: Journal    
DOI: 10.1111/1523-1747.ep12296240     Document Type: Article
Times cited : (49)

References (34)
  • 2
    • 0030070588 scopus 로고    scopus 로고
    • Molecular complexity of the cutaneous basement membrane zone: Revelations from the paradigms of epidermolysis bullosa
    • Christiano AM, Uitto J: Molecular complexity of the cutaneous basement membrane zone: Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol 5:1-11, 1996
    • (1996) Exp Dermatol , vol.5 , pp. 1-11
    • Christiano, A.M.1    Uitto, J.2
  • 3
    • 0029666420 scopus 로고    scopus 로고
    • β4 integrin is required for hemidesmosome formation, cell adhesion and cell survival
    • Dowling J, Yu W-C, Fuchs E: β4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. J Cell Biol 134:559-572, 1996
    • (1996) J Cell Biol , vol.134 , pp. 559-572
    • Dowling, J.1    Yu, W.-C.2    Fuchs, E.3
  • 5
    • 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 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 90:10325-10329, 1993
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 10325-10329
    • Ganguly, A.1    Rock, M.J.2    Prockop, D.J.3
  • 7
    • 0028075997 scopus 로고
    • Junctional epidermolysis bullosa: Defects in the expression of epiligrin/nicein/kalinin and integrin β4 that inhibit hemidesmosome formation
    • Gil SG, Brown TA, Ryan MC, Carter WG: Junctional epidermolysis bullosa: Defects in the expression of epiligrin/nicein/kalinin and integrin β4 that inhibit hemidesmosome formation. J Invest Dermatol 103:31S-38S, 1994
    • (1994) J Invest Dermatol , vol.103
    • Gil, S.G.1    Brown, T.A.2    Ryan, M.C.3    Carter, W.G.4
  • 8
    • 0030006606 scopus 로고    scopus 로고
    • Desmosomes and hemidesmosomes: Structure and function of molecular components
    • Green KJ, Jones JCR: Desmosomes and hemidesmosomes: structure and function of molecular components. FASEB J 10:871-881, 1996
    • (1996) FASEB J , vol.10 , pp. 871-881
    • Green, K.J.1    Jones, J.C.R.2
  • 9
    • 0031019014 scopus 로고    scopus 로고
    • Cloning of the human type XVII collagen gene (COL17A1) and detection of novel mutations in generalized atrophic benign epidermolysis bullosa
    • Gatalica B, Pulkkinen L, Li K, Kuokkanen K, Ryynänen M, McGrath JA, Uitto J: Cloning of the human type XVII collagen gene (COL17A1) and detection of novel mutations in generalized atrophic benign epidermolysis bullosa. Am J Hum Genet 60:352-365, 1997
    • (1997) Am J Hum Genet , vol.60 , pp. 352-365
    • Gatalica, B.1    Pulkkinen, L.2    Li, K.3    Kuokkanen, K.4    Ryynänen, M.5    McGrath, J.A.6    Uitto, J.7
  • 10
    • 0025117579 scopus 로고
    • Cloning and sequence analysis of beta-4 cDNA: An integrin subunit that contains a unique 118 kd cytoplasmic domain
    • Hogervorst F, Kuikman I, von dem Borne AEG, Jr, Sonnenberg A: Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain. EMBO J 9:765-770, 1990
    • (1990) EMBO J , vol.9 , pp. 765-770
    • Hogervorst, F.1    Kuikman, I.2    Von Dem Borne Jr., A.E.G.3    Sonnenberg, A.4
  • 11
    • 0025908468 scopus 로고
    • Molecular cloning of the human α6 integrin subunit. Alternative splicing of α6 mRNA and chromosomal localization of the α6 and β4 genes
    • Hogervorst F, Kuikman I, van Kessel AG, Sonnenberg A: Molecular cloning of the human α6 integrin subunit. Alternative splicing of α6 mRNA and chromosomal localization of the α6 and β4 genes. Eur J Biochem 2:425-433, 1991
    • (1991) Eur J Biochem , vol.2 , pp. 425-433
    • Hogervorst, F.1    Kuikman, I.2    Van Kessel, A.G.3    Sonnenberg, A.4
  • 13
    • 0026594009 scopus 로고
    • Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antroplyoric atresia
    • Lacour JP, Hoffman P, Bastiani GF, Boutte P, Pisani A, Ortonne JP: Lethal junctional epidermolysis bullosa with normal expression of BM 600 and antroplyoric atresia. Eur J Pediatr 151:252-257, 1992
    • (1992) Eur J Pediatr , vol.151 , pp. 252-257
    • Lacour, J.P.1    Hoffman, P.2    Bastiani, G.F.3    Boutte, P.4    Pisani, A.5    Ortonne, J.P.6
  • 14
    • 0026756402 scopus 로고
    • The pyloric atresia-junctional epidermolysis bullosa syndrome: Report of a case and review of the literature
    • Lestringant, GG, Akel SR, Qayed KI: The pyloric atresia-junctional epidermolysis bullosa syndrome: report of a case and review of the literature. Arch Dermatol 128:1083-1086, 1992
    • (1992) Arch Dermatol , vol.128 , pp. 1083-1086
    • Lestringant, G.G.1    Akel, S.R.2    Qayed, K.I.3
  • 15
    • 0029873761 scopus 로고    scopus 로고
    • A homozygous deletion mutation in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG) in a family with generalized atrophic benign epidermolysis bullosa
    • McGrath JA, Darling T, Gatalica B, Pohla-Gubo G, Hintner H, Christiano AM, Yancey KB, Uitto J: A homozygous deletion mutation in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG) in a family with generalized atrophic benign epidermolysis bullosa. J Invest Dermatol 106:771-774, 1996
    • (1996) J Invest Dermatol , vol.106 , pp. 771-774
    • McGrath, J.A.1    Darling, T.2    Gatalica, B.3    Pohla-Gubo, G.4    Hintner, H.5    Christiano, A.M.6    Yancey, K.B.7    Uitto, J.8
  • 16
    • 0029121987 scopus 로고
    • Mutations in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (type XVII), in generalized atrophic benign epidermolysis bullosa
    • McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, Eady RAJ, Uitto J: Mutations in the gene encoding the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (type XVII), in generalized atrophic benign epidermolysis bullosa. Nat Genet 11:83-86, 1995
    • (1995) Nat Genet , vol.11 , pp. 83-86
    • McGrath, J.A.1    Gatalica, B.2    Christiano, A.M.3    Li, K.4    Owaribe, K.5    McMillan, J.R.6    Eady, R.A.J.7    Uitto, J.8
  • 18
    • 0025234821 scopus 로고
    • Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia
    • Nazzaro V, Nicolini U, De LL, Berti E, Caputo R: Prenatal diagnosis of junctional epidermolysis bullosa associated with pyloric atresia. J Med Genet 27:244-248, 1990
    • (1990) J Med Genet , vol.27 , pp. 244-248
    • Nazzaro, V.1    Nicolini, U.2    De, L.L.3    Berti, E.4    Caputo, R.5
  • 19
    • 0028292380 scopus 로고
    • Antigenic expression of integrin α6β4 in junctional epidermolysis bullosa
    • Phillips RJ, Aplin JD, Lake BD: Antigenic expression of integrin α6β4 in junctional epidermolysis bullosa. Histopathology 24:571-576, 1994
    • (1994) Histopathology , vol.24 , pp. 571-576
    • Phillips, R.J.1    Aplin, J.D.2    Lake, B.D.3
  • 20
    • 0030611108 scopus 로고    scopus 로고
    • Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia
    • in press
    • Pulkkinen L, Kimonis VE, Xu Y, Spanou EN, McLean WHI. UittoJ: Homozygous α6 integrin mutation in junctional epidermolysis bullosa with congenital duodenal atresia. Hum Mol Genet 6: in press, 1997
    • Hum Mol Genet , vol.6 , pp. 1997
    • Pulkkinen, L.1    Kimonis, V.E.2    Xu, Y.3    Spanou, E.N.4    McLean, W.H.I.5    Uitto, J.6
  • 21
    • 0029798270 scopus 로고    scopus 로고
    • Homozgyous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy
    • Pulkkinen L, Smith FJD, Shimizu H, Murata S, Yaoita H, Hachisuka H, Nishikawa T, McLean WHI, Uitto J: Homozgyous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet 5:1539-1546, 1996
    • (1996) Hum Mol Genet , vol.5 , pp. 1539-1546
    • Pulkkinen, L.1    Smith, F.J.D.2    Shimizu, H.3    Murata, S.4    Yaoita, H.5    Hachisuka, H.6    Nishikawa, T.7    McLean, W.H.I.8    Uitto, J.9
  • 24
    • 0029793261 scopus 로고    scopus 로고
    • Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome
    • Shimizu H, Suzumori K, Hatta N, Nishikawa T: Absence of detectable α6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Arch Dermatol 132: 919-925, 1996
    • (1996) Arch Dermatol , vol.132 , pp. 919-925
    • Shimizu, H.1    Suzumori, K.2    Hatta, N.3    Nishikawa, T.4
  • 29
    • 0022631878 scopus 로고
    • Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis
    • Tidman M, Eady RAJ: Hemidesmosome heterogeneity in junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 86:51-56, 1986
    • (1986) J Invest Dermatol , vol.86 , pp. 51-56
    • Tidman, M.1    Eady, R.A.J.2
  • 30
    • 0026669319 scopus 로고
    • Molecular genetics of the cutaneous basement membrane zone: Perspectives on epidermolysis bullosa
    • Uitto J, Christiano AM: Molecular genetics of the cutaneous basement membrane zone: perspectives on epidermolysis bullosa. J Clin Invest 90:687-692, 1992
    • (1992) J Clin Invest , vol.90 , pp. 687-692
    • Uitto, J.1    Christiano, A.M.2
  • 31
    • 0002178257 scopus 로고
    • Molecular basis of the junctional forms of epidermolysis bullosa, a disorder of the cutaneous basement membrane zone
    • National Institutes of Health, Bethesda, MD
    • Uitto J, McGrath JA, Pulkkinen L, Christiano AM: Molecular basis of the junctional forms of epidermolysis bullosa, a disorder of the cutaneous basement membrane zone. In: Proceedings of the 7th International Symposium on Basement Membranes. National Institutes of Health, Bethesda, MD, 1995, pp 257-269
    • (1995) Proceedings of the 7th International Symposium on Basement Membranes , pp. 257-269
    • Uitto, J.1    McGrath, J.A.2    Pulkkinen, L.3    Christiano, A.M.4
  • 32
    • 0029829634 scopus 로고    scopus 로고
    • Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy
    • Uitto J, Pulkkinen L, Smith FJD, McLean WHI: Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy Exp Dermatol 5:237-246, 1996
    • (1996) Exp Dermatol , vol.5 , pp. 237-246
    • Uitto, J.1    Pulkkinen, L.2    Smith, F.J.D.3    McLean, W.H.I.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.