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Volumn 132, Issue 6-7 I, 2005, Pages 550-553

Junctional epidermolysis bullosa. Identification of a new mutation in two Lebanese families;Épidermolyse bulleuse jonctionnelle. Identification d'une nouvelle mutation dans 2 familles Libanaises

Author keywords

[No Author keywords available]

Indexed keywords

KALININ; MESSENGER RNA; DNA; LAMININ; LAMININ ALPHA 3;

EID: 22344438424     PISSN: 01519638     EISSN: None     Source Type: Journal    
DOI: 10.1016/s0151-9638(05)79337-6     Document Type: Article
Times cited : (5)

References (19)
  • 1
    • 0030767241 scopus 로고    scopus 로고
    • Epidermolysis bullosa: A spectrum of clinical phenotypes explained by molecular heterogeneity
    • Uitto J, Pulkkinen L, McLean WH. Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity. Mol Med Today 1997;3:457-65.
    • (1997) Mol Med Today , vol.3 , pp. 457-465
    • Uitto, J.1    Pulkkinen, L.2    McLean, W.H.3
  • 2
    • 0036461064 scopus 로고    scopus 로고
    • Herlitz vs. Laminin 5 mutations in junctional epidermolysis bullosa: Molecular basis of non-Herlitz phenotypes
    • Nakano A, Chao SC, Pulkkinen L, Murrell D, Bruckner-Tuderman L, Pfender E, et al. Herlitz vs. Laminin 5 mutations in junctional epidermolysis bullosa: molecular basis of non-Herlitz phenotypes. Hum Genet 2002;110:41-51.
    • (2002) Hum Genet , vol.110 , pp. 41-51
    • Nakano, A.1    Chao, S.C.2    Pulkkinen, L.3    Murrell, D.4    Bruckner-Tuderman, L.5    Pfender, E.6
  • 3
    • 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, Carter DM, Eady RA, Esterly NB, 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. 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    Carter, D.M.4    Eady, R.A.5    Esterly, N.B.6
  • 4
    • 12944293136 scopus 로고    scopus 로고
    • Revised classification system for inherited epidermolysis bullosa. Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa
    • Fine JD, Eady RA, Bauer EA, Briggaman RA, Bruckner-Tuderman L, Christiano A, et al. Revised classification system for inherited epidermolysis bullosa. Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol 2000;42:1051-66.
    • (2000) J Am Acad Dermatol , vol.42 , pp. 1051-1066
    • Fine, J.D.1    Eady, R.A.2    Bauer, E.A.3    Briggaman, R.A.4    Bruckner-Tuderman, L.5    Christiano, A.6
  • 6
    • 0034698047 scopus 로고    scopus 로고
    • Structural requirement of carboxyl-terminal globular domains of laminin alpha 3 chain for promotion of rapid cell adhesion and migration by laminin-5
    • Hirosaki T, Mizushima H, Tsubota Y, Moriyama K, Miyazaki K. Structural requirement of carboxyl-terminal globular domains of laminin alpha 3 chain for promotion of rapid cell adhesion and migration by laminin-5. J Biol Chem 2000;275:22495-502.
    • (2000) J Biol Chem , vol.275 , pp. 22495-22502
    • Hirosaki, T.1    Mizushima, H.2    Tsubota, Y.3    Moriyama, K.4    Miyazaki, K.5
  • 7
    • 0142057148 scopus 로고    scopus 로고
    • Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia
    • Iacovacci S, Cicuzza S, Odorisio T, Silvestri E, Kayserili N, Zambruno G, et al. Novel and recurrent mutations in the integrin beta 4 subunit gene causing lethal junctional epidermolysis bullosa with pyloric atresia. Exp Dermatol 2003;12:716-20.
    • (2003) Exp Dermatol , vol.12 , pp. 716-720
    • Iacovacci, S.1    Cicuzza, S.2    Odorisio, T.3    Silvestri, E.4    Kayserili, N.5    Zambruno, G.6
  • 8
    • 0032231297 scopus 로고    scopus 로고
    • Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: Missense versus nonsense
    • Pulkkinen L, Rouan F, Bruckner-Tuderman L, Wallerstein R, Garzon M, Brown T, et al. Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet 1998;63:1376-87.
    • (1998) Am J Hum Genet , vol.63 , pp. 1376-1387
    • Pulkkinen, L.1    Rouan, F.2    Bruckner-Tuderman, L.3    Wallerstein, R.4    Garzon, M.5    Brown, T.6
  • 9
    • 0031844816 scopus 로고    scopus 로고
    • E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa
    • Mellerio JE, Eady RA, Atherton DJ, Lake BD, McGrath JA. E210K mutation in the gene encoding the beta3 chain of laminin-5 (LAMB3) is predictive of a phenotype of generalized atrophic benign epidermolysis bullosa. Br J Dermatol 1998;139:325-31.
    • (1998) Br J Dermatol , vol.139 , pp. 325-331
    • Mellerio, J.E.1    Eady, R.A.2    Atherton, D.J.3    Lake, B.D.4    McGrath, J.A.5
  • 10
    • 0029121987 scopus 로고
    • Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophie benign epidermolysis bullosa
    • McGrath JA, Gatalica B, Christiano AM, Li K, Owaribe K, McMillan JR, et al. Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophie benign epidermolysis bullosa. Nat Genet 1995;11:83-6.
    • (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
  • 11
    • 0002931849 scopus 로고    scopus 로고
    • The molecular basis of the junctional forms of epidermolysis bullosa
    • Fine JD, Bauer E, McGuire J, Moshell A, editors. Baltimore: John Hopkins University Press
    • Pulkkinen L, Uitto J, Christiano AM. The molecular basis of the junctional forms of epidermolysis bullosa. In: Fine JD, Bauer E, McGuire J, Moshell A, editors. Epidermolysis bullosa. Baltimore: John Hopkins University Press; 1999:p.300-25.
    • (1999) Epidermolysis Bullosa , pp. 300-325
    • Pulkkinen, L.1    Uitto, J.2    Christiano, A.M.3
  • 12
    • 0033832592 scopus 로고    scopus 로고
    • Herlitz junctional epidermolysis bullosa: Novel and recurrent mutations in the LAMB3 gene and the population carrier frequency
    • Nakano A, Pfendner E, Hashimoto I, Uitto J. Herlitz junctional epidermolysis bullosa: novel and recurrent mutations in the LAMB3 gene and the population carrier frequency. J Invest Dermatol 2000;115:493-8.
    • (2000) J Invest Dermatol , vol.115 , pp. 493-498
    • Nakano, A.1    Pfendner, E.2    Hashimoto, I.3    Uitto, J.4
  • 13
    • 0030029420 scopus 로고    scopus 로고
    • Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa
    • Kivirikko S, McGrath JA, Pulkkinen L, Uitto J, Christiano AM. Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa. Hum Mol Genet 1996;5:231-7.
    • (1996) Hum Mol Genet , vol.5 , pp. 231-237
    • Kivirikko, S.1    McGrath, J.A.2    Pulkkinen, L.3    Uitto, J.4    Christiano, A.M.5
  • 14
    • 0030742445 scopus 로고    scopus 로고
    • Predominance of the recurrent mutation R635X in the LAM63 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy
    • Pulkkinen L, Meneguzzi G, McGrath JA, Xu Y, Blanchet-Bardon C, Ortonne JP, et al. Predominance of the recurrent mutation R635X in the LAM63 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy. J Invest Dermatol 1997;109:232-7.
    • (1997) J Invest Dermatol , vol.109 , pp. 232-237
    • Pulkkinen, L.1    Meneguzzi, G.2    McGrath, J.A.3    Xu, Y.4    Blanchet-Bardon, C.5    Ortonne, J.P.6
  • 15
    • 0036553471 scopus 로고    scopus 로고
    • Junctional epidermolysis bullosa in the Middle East: Clinical and genetic studies in a series of consanguineous families
    • Nakano A, Lestringant GG, Paperna T, Bergman R, Gershoni R, Frossard P, et al. Junctional epidermolysis bullosa in the Middle East: clinical and genetic studies in a series of consanguineous families. J Am Acad Dermatol 2002;46:510-6.
    • (2002) J Am Acad Dermatol , vol.46 , pp. 510-516
    • Nakano, A.1    Lestringant, G.G.2    Paperna, T.3    Bergman, R.4    Gershoni, R.5    Frossard, P.6
  • 16
    • 8044260815 scopus 로고    scopus 로고
    • Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa
    • Shimizu H, Takizawa Y, McGrath JA, Pulkinen L, Christiano AM, Vitto J, et al. Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa. Arch Dermatol Res 1997;289:174-6.
    • (1997) Arch Dermatol Res , vol.289 , pp. 174-176
    • Shimizu, H.1    Takizawa, Y.2    McGrath, J.A.3    Pulkinen, L.4    Christiano, A.M.5    Vitto, J.6
  • 17
    • 0031037034 scopus 로고    scopus 로고
    • Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity
    • Zlotogora J. Genetic disorders among Palestinian Arabs: 1. Effects of consanguinity. Am J Med Genet 1997;68:472-5.
    • (1997) Am J Med Genet , vol.68 , pp. 472-475
    • Zlotogora, J.1
  • 18
    • 0024081085 scopus 로고
    • Consanguineous marriages in Beirut: Time trends, spatial distribution
    • Khlat M. Consanguineous marriages in Beirut: time trends, spatial distribution. Soc Biol 1988;35:324-30.
    • (1988) Soc Biol , vol.35 , pp. 324-330
    • Khlat, M.1
  • 19
    • 0022517353 scopus 로고
    • Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut
    • Khlat M, Halabi S, Khudr A, Der Kaloustian VM. Perception of consanguineous marriages and their genetic effects among a sample of couples from Beirut. Am J Med Genet 1986;25:299-306.
    • (1986) Am J Med Genet , vol.25 , pp. 299-306
    • Khlat, M.1    Halabi, S.2    Khudr, A.3    Der Kaloustian, V.M.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.