메뉴 건너뛰기




Volumn 8, Issue 9, 1997, Pages 673-681

IAP insertion in the murine LamB3 gene results in junctional epidermolysis bullosa

Author keywords

[No Author keywords available]

Indexed keywords

CELL ADHESION MOLECULE; KALININ;

EID: 0031229599     PISSN: 09388990     EISSN: None     Source Type: Journal    
DOI: 10.1007/s003359900535     Document Type: Article
Times cited : (89)

References (57)
  • 4
    • 0025165018 scopus 로고
    • Structure and function of laminin: Anatomy of a multidomain glycoprotein
    • Beck K, Hunter I, Engel J (1990) Structure and function of laminin: anatomy of a multidomain glycoprotein. FASEB J 4, 148-160
    • (1990) FASEB J , vol.4 , pp. 148-160
    • Beck, K.1    Hunter, I.2    Engel, J.3
  • 5
    • 0030272476 scopus 로고    scopus 로고
    • Hemidesmosomes: Roles in adhesion, signaling and human diseases
    • Borradori L, Sonnenberg A (1996) Hemidesmosomes: roles in adhesion, signaling and human diseases. Curr Opin Cell Biol 8, 647-656
    • (1996) Curr Opin Cell Biol , vol.8 , pp. 647-656
    • Borradori, L.1    Sonnenberg, A.2
  • 6
    • 0029813342 scopus 로고    scopus 로고
    • Defective integrin α6β4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia
    • Brown TA, Gil SG, Sybert VP, Lestringant GG, Tadini G, Caputo R, Carter WG (1996) Defective integrin α6β4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia. J Invest Dermatol 107, 384-391
    • (1996) J Invest Dermatol , vol.107 , pp. 384-391
    • Brown, T.A.1    Gil, S.G.2    Sybert, V.P.3    Lestringant, G.G.4    Tadini, G.5    Caputo, R.6    Carter, W.G.7
  • 8
    • 0025887362 scopus 로고
    • Epiligrin, a new cell adhesion ligand for integrin α3β1 in epithelial basement membranes
    • Carter WG, Ryan MC, Gahr PJ (1991) Epiligrin, a new cell adhesion ligand for integrin α3β1 in epithelial basement membranes. Cell 65, 599-610
    • (1991) Cell , vol.65 , pp. 599-610
    • Carter, W.G.1    Ryan, M.C.2    Gahr, P.J.3
  • 9
    • 0024998763 scopus 로고
    • Abnormal expression of hemidesmosome-like structures by junctional epidermolysis bullosa keratinocytes in vitro
    • Chapman SJ, Leigh IM, Tidman MJ, Eady RAJ (1990) Abnormal expression of hemidesmosome-like structures by junctional epidermolysis bullosa keratinocytes in vitro. Br J Dermatol 123, 137-144
    • (1990) Br J Dermatol , vol.123 , pp. 137-144
    • Chapman, S.J.1    Leigh, I.M.2    Tidman, M.J.3    Eady, R.A.J.4
  • 10
    • 0030138012 scopus 로고    scopus 로고
    • Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa
    • Christiano AM, Pulkkinen L, Eady RAJ, Uitto J (1996) Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. J Invest Dermatol 106, 775-777
    • (1996) J Invest Dermatol , vol.106 , pp. 775-777
    • Christiano, A.M.1    Pulkkinen, L.2    Eady, R.A.J.3    Uitto, J.4
  • 11
    • 0001882760 scopus 로고    scopus 로고
    • Laminin isoforms and their integrin receptors
    • MA Horton. ed. (New York: CRC Press)
    • Delwel GO, Sonnenberg A (1996) Laminin isoforms and their integrin receptors. In Adhesion Receptors as Therapeutic Targets MA Horton. ed. (New York: CRC Press), pp 9-36
    • (1996) Adhesion Receptors As Therapeutic Targets , pp. 9-36
    • Delwel, G.O.1    Sonnenberg, A.2
  • 12
    • 0029666420 scopus 로고    scopus 로고
    • β4 integrin is required for hemidesmosome formation, cell adhesion, and cell survival
    • Dowling J, Yu Q-C, Fuchs E (1996) β4 integrin is required for hemidesmosome formation, cell adhesion, and cell survival. J Cell Biol 134, 559-572
    • (1996) J Cell Biol , vol.134 , pp. 559-572
    • Dowling, J.1    Yu, Q.-C.2    Fuchs, E.3
  • 13
    • 0028143664 scopus 로고
    • Ultrastructural clues to genetic disorders of the skin: The dermal-epidermal junction
    • Eady RAJ, McGrath JA, McMillan J (1994) Ultrastructural clues to genetic disorders of the skin: the dermal-epidermal junction. J Invest Dermatol 103, 13S-18S
    • (1994) J Invest Dermatol , vol.103
    • Eady, R.A.J.1    McGrath, J.A.2    McMillan, J.3
  • 14
    • 0020793569 scopus 로고
    • A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity
    • Feinberg AP, Vogelstein B (1983) A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal Biochem 132, 6-13
    • (1983) Anal Biochem , vol.132 , pp. 6-13
    • Feinberg, A.P.1    Vogelstein, B.2
  • 17
    • 0027548587 scopus 로고
    • Desmosomes and hemidesmosomes
    • Garrod DR (1993) Desmosomes and hemidesmosomes. Curr Biol 5, 30-40
    • (1993) Curr Biol , vol.5 , pp. 30-40
    • Garrod, D.R.1
  • 19
    • 0028075997 scopus 로고
    • Junctional epidermolysis bullosis: Defects in expression of epiligrin/nicein/kalinin and integrin 4 that inhibit hemidesmosome formation
    • Gil SG, Brown TA, Ryan MC, Carter WG (1994) Junctional epidermolysis bullosis: defects in expression of epiligrin/nicein/kalinin and integrin 4 that inhibit hemidesmosome formation. J Invest Dermatol 103, 31S-38S
    • (1994) J Invest Dermatol , vol.103
    • Gil, S.G.1    Brown, T.A.2    Ryan, M.C.3    Carter, W.G.4
  • 21
    • 0017177459 scopus 로고
    • Ultrastructural studies in epidermolysis bullosa hereditaria. IV. Recessive dystrophic types with junctional blistering
    • Hashimoto I, Gedde-Dahl T, Schnyder UW, Anton-Lamprecht I (1976) Ultrastructural studies in epidermolysis bullosa hereditaria. IV. Recessive dystrophic types with junctional blistering. Arch Dermatol Res 257, 17-32
    • (1976) Arch Dermatol Res , vol.257 , pp. 17-32
    • Hashimoto, I.1    Gedde-Dahl, T.2    Schnyder, U.W.3    Anton-Lamprecht, I.4
  • 22
  • 24
    • 0027385938 scopus 로고
    • Simple screening procedure to detect gene targeting events in embryonic stem cells
    • PM Wassarman, ML DePamphilis. eds. (New York: Academic Press)
    • Konigen F, Stewart C (1993) Simple screening procedure to detect gene targeting events in embryonic stem cells. In Guide to Techniques in Mouse Development, PM Wassarman, ML DePamphilis. eds. (New York: Academic Press), pp 878-890
    • (1993) Guide to Techniques in Mouse Development , pp. 878-890
    • Konigen, F.1    Stewart, C.2
  • 25
    • 0024254164 scopus 로고
    • The intracisternal A-particle gene family: Structure and functional aspects
    • Kuff EL, Lueders KK (1988) The intracisternal A-particle gene family: structure and functional aspects. Adv Cancer Res 51, 183-276
    • (1988) Adv Cancer Res , vol.51 , pp. 183-276
    • Kuff, E.L.1    Lueders, K.K.2
  • 26
    • 0027242415 scopus 로고
    • The matrix secreted by 804G cells contains laminin-related components that participate in hemidesmosome assembly in vitro
    • Langhofer M, Hopkinson SB, Jones JCR (1993) The matrix secreted by 804G cells contains laminin-related components that participate in hemidesmosome assembly in vitro. J Cell Sci 105, 753-764
    • (1993) J Cell Sci , vol.105 , pp. 753-764
    • Langhofer, M.1    Hopkinson, S.B.2    Jones, J.C.R.3
  • 27
    • 0025354122 scopus 로고
    • Towards construction of a high resolution map of the mouse genome using PCR-analysed microsatelliles
    • Love JM, Knight AM, McAleer MA, Todd JA (1990) Towards construction of a high resolution map of the mouse genome using PCR-analysed microsatelliles. Nucleic Acids Res 18, 4123-4130
    • (1990) Nucleic Acids Res , vol.18 , pp. 4123-4130
    • Love, J.M.1    Knight, A.M.2    McAleer, M.A.3    Todd, J.A.4
  • 28
    • 0029330286 scopus 로고
    • When cells stop making sense: Effects of nonsense codons on RNA metabolism in vertebrate cells
    • Maquat LE (1995) When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells. RNA 1, 453-465
    • (1995) RNA , vol.1 , pp. 453-465
    • Maquat, L.E.1
  • 29
    • 0026640262 scopus 로고
    • The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor
    • Marinkovich MP, Lunstrum GP, Burgeson RE (1992a) The anchoring filament protein kalinin is synthesized and secreted as a high molecular weight precursor. J Biol Chem 267, 17900-17906
    • (1992) J Biol Chem , vol.267 , pp. 17900-17906
    • Marinkovich, M.P.1    Lunstrum, G.P.2    Burgeson, R.E.3
  • 30
    • 0026629850 scopus 로고
    • The dermal-epidermal junction of human skin contains a novel laminin variant
    • Marinkovich MP, Lunstrum GP, Keene DR, Burgeson RE (1992b) The dermal-epidermal junction of human skin contains a novel laminin variant. J Cell Biol 119, 695-703
    • (1992) J Cell Biol , vol.119 , pp. 695-703
    • Marinkovich, M.P.1    Lunstrum, G.P.2    Keene, D.R.3    Burgeson, R.E.4
  • 34
    • 0029897474 scopus 로고    scopus 로고
    • Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
    • McGrath JA, Gatalica B, Li K, Giles M, Dunnill S, McMillan JR, Christiano AM, Eady RAJ, Uitto J (1996a) Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol 148, 1787-1796
    • (1996) Am J Pathol , vol.148 , pp. 1787-1796
    • McGrath, J.A.1    Gatalica, B.2    Li, K.3    Giles, M.4    Dunnill, S.5    McMillan, J.R.6    Christiano, A.M.7    Eady, R.A.J.8    Uitto, J.9
  • 35
    • 0029670321 scopus 로고    scopus 로고
    • A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: Evidence for a founder effect
    • McGrath JA, Kivirikko S, Ciatti S, Moss C, Christiano AM, Uitto J (1996b) A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. J Invest Dermatol 106, 781-784
    • (1996) J Invest Dermatol , vol.106 , pp. 781-784
    • McGrath, J.A.1    Kivirikko, S.2    Ciatti, S.3    Moss, C.4    Christiano, A.M.5    Uitto, J.6
  • 36
    • 0030051141 scopus 로고    scopus 로고
    • Hemidesmosome ontogeny in digit skin of the human fetus
    • McMillan JR, Eady RAJ (1996) Hemidesmosome ontogeny in digit skin of the human fetus. Arch Dermatol 288, 91-97
    • (1996) Arch Dermatol , vol.288 , pp. 91-97
    • McMillan, J.R.1    Eady, R.A.J.2
  • 37
    • 0023227854 scopus 로고
    • Nucleotide sequence of a complete mouse intracisternal A-particle genome: Relationship to known aspects of particle assembly and function
    • Mietz JA, Grossman Z, Leuders KK, Kuff EL (1987) Nucleotide sequence of a complete mouse intracisternal A-particle genome: relationship to known aspects of particle assembly and function. J Virol 61, 3020-3029
    • (1987) J Virol , vol.61 , pp. 3020-3029
    • Mietz, J.A.1    Grossman, Z.2    Leuders, K.K.3    Kuff, E.L.4
  • 39
    • 0000010578 scopus 로고
    • Studies on the pathogenesis of epidermolysis bullosa
    • Pearson RW (1962) Studies on the pathogenesis of epidermolysis bullosa. J Invest Dermatol 39, 551-575
    • (1962) J Invest Dermatol , vol.39 , pp. 551-575
    • Pearson, R.W.1
  • 40
    • 0028568985 scopus 로고
    • A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa
    • Pulkkinen L, Christiano AM, Gerecke D, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J (1994) A homozygous nonsense mutation in the β3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics 24, 357-360
    • (1994) Genomics , vol.24 , pp. 357-360
    • Pulkkinen, L.1    Christiano, A.M.2    Gerecke, D.3    Wagman, D.W.4    Burgeson, R.E.5    Pittelkow, M.R.6    Uitto, J.7
  • 41
    • 52649114611 scopus 로고
    • The use of lead citrate at high pH and an electron opaque staining electron microscopy
    • Reynolds ES (1963) The use of lead citrate at high pH and an electron opaque staining electron microscopy. J Cell Biol 7, 208-213
    • (1963) J Cell Biol , vol.7 , pp. 208-213
    • Reynolds, E.S.1
  • 42
    • 0025879967 scopus 로고
    • Kalinin: An epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments
    • Rousselle P, Lunstrum GP, Keene DR, Burgeson RE (1991) Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments. J Cell Biol 114, 567-576
    • (1991) J Cell Biol , vol.114 , pp. 567-576
    • Rousselle, P.1    Lunstrum, G.P.2    Keene, D.R.3    Burgeson, R.E.4
  • 45
    • 0027430326 scopus 로고
    • Ultrastructural findings in epidermolysis bullosa
    • Smith LT (1993) Ultrastructural findings in epidermolysis bullosa. Arch Dermatol 129, 1578-1584
    • (1993) Arch Dermatol , vol.129 , pp. 1578-1584
    • Smith, L.T.1
  • 46
    • 0026572219 scopus 로고
    • Separation of noncutaneous epithelia in a fetus diagnosed in utero with junctional epidermolysis bullosa
    • Smith LT, Miller AW, Kirz DA, Elias S, Brumbaugh S, Holbrook K (1992) Separation of noncutaneous epithelia in a fetus diagnosed in utero with junctional epidermolysis bullosa. Pediatr Res 31, 561-566
    • (1992) Pediatr Res , vol.31 , pp. 561-566
    • Smith, L.T.1    Miller, A.W.2    Kirz, D.A.3    Elias, S.4    Brumbaugh, S.5    Holbrook, K.6
  • 47
    • 0027746104 scopus 로고
    • Formation of hemidesmosomes in cells of transformed murine mammary tumor cell line and mechanisms involved in adherence of these cells to laminin and kalinin
    • Sonnenberg A, de Nekjer AA, Martinez de Velasco AM, Janssen H, Calafat J, Niessen CM (1993) Formation of hemidesmosomes in cells of transformed murine mammary tumor cell line and mechanisms involved in adherence of these cells to laminin and kalinin. J Cell Sci 106, 1083-1102
    • (1993) J Cell Sci , vol.106 , pp. 1083-1102
    • Sonnenberg, A.1    De Nekjer, A.A.2    Martinez De Velasco, A.M.3    Janssen, H.4    Calafat, J.5    Niessen, C.M.6
  • 49
    • 0022631878 scopus 로고
    • Hemidesmosome heterogeneity in Junctional epidermolysis bullosa revealed by morphometric analysis
    • Tidman MJ, Eady RAJ (1986) Hemidesmosome heterogeneity in Junctional epidermolysis bullosa revealed by morphometric analysis. J Invest Dermatol 86, 51-56
    • (1986) J Invest Dermatol , vol.86 , pp. 51-56
    • Tidman, M.J.1    Eady, R.A.J.2
  • 50
    • 0030271572 scopus 로고    scopus 로고
    • Macromolecular organization of basement membranes
    • Timpl R (1996) Macromolecular organization of basement membranes. Curr Opin Cell Biol 8, 618-624
    • (1996) Curr Opin Cell Biol , vol.8 , pp. 618-624
    • Timpl, R.1
  • 51
    • 0030087944 scopus 로고    scopus 로고
    • Supramolecular assembly of basement membranes
    • Timpl R, Brown JC (1996) Supramolecular assembly of basement membranes. BioEssays 18, 123-132
    • (1996) BioEssays , vol.18 , pp. 123-132
    • Timpl, R.1    Brown, J.C.2
  • 56
    • 0030046992 scopus 로고    scopus 로고
    • Anchorage mediated by integrin α6β4 to laminin 5 (epiligrin) regulates tyrosine phosphorylation of a membrane-associated 80-kD protein
    • Xia YP, Gil SG, Carter WG (1996) Anchorage mediated by integrin α6β4 to laminin 5 (epiligrin) regulates tyrosine phosphorylation of a membrane-associated 80-kD protein. J Cell Biol 132, 727-740
    • (1996) J Cell Biol , vol.132 , pp. 727-740
    • Xia, Y.P.1    Gil, S.G.2    Carter, W.G.3
  • 57
    • 0023056879 scopus 로고
    • Nucleotide sequence of the intracisternal A-particle genome inserted 5′ to the interleukin-3 gene of the leukemia cell line WEHI-3B
    • Ymer S, Tucker WQJ, Cambell HD, Yang IG (1986) Nucleotide sequence of the intracisternal A-particle genome inserted 5′ to the interleukin-3 gene of the leukemia cell line WEHI-3B. Nucleic Acids Res 14, 5901-5919.
    • (1986) Nucleic Acids Res , vol.14 , pp. 5901-5919
    • Ymer, S.1    Tucker, W.Q.J.2    Cambell, H.D.3    Yang, I.G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.