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Volumn 5, Issue 5, 1996, Pages 237-246

Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy

Author keywords

Blistering skin diseases; Epidermolysis bullosa; Muscular dystrophy; Mutation analysis

Indexed keywords

BASEMENT MEMBRANE PROTEIN; PLECTIN; UNCLASSIFIED DRUG;

EID: 0029829634     PISSN: 09066705     EISSN: None     Source Type: Journal    
DOI: 10.1111/j.1600-0625.1996.tb00124.x     Document Type: Review
Times cited : (91)

References (71)
  • 2
    • 0026067709 scopus 로고
    • Revised clinical and laboratory criteria for subtypes of epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry
    • Fine J-D, Bauer E A, Briggaman R A et al. Revised clinical and laboratory criteria for subtypes of epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol 1991: 24: 119-135.
    • (1991) J Am Acad Dermatol , vol.24 , pp. 119-135
    • Fine, J.-D.1    Bauer, E.A.2    Briggaman, R.A.3
  • 3
    • 0001643477 scopus 로고
    • Epidermolysis bullosa
    • Connective tissue and its heritable disorders. Royce P & Steinmann B (eds): New York: Wiley-Liss
    • Bruckner-Tuderman L. Epidermolysis bullosa. In: Connective tissue and its heritable disorders. Molecular, genetic and medical aspects. Royce P & Steinmann B (eds): New York: Wiley-Liss, 1993: 507-532.
    • (1993) Molecular, Genetic and Medical Aspects , pp. 507-532
    • Bruckner-Tuderman, L.1
  • 6
    • 0030070588 scopus 로고    scopus 로고
    • Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa
    • Christiano A M, Uitto J. Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Derm 1996: 5: 1-11.
    • (1996) Exp Derm , vol.5 , pp. 1-11
    • Christiano, A.M.1    Uitto, J.2
  • 7
    • 0030458029 scopus 로고    scopus 로고
    • Molecular complexity of the cutaneous basement membrane zone
    • in press
    • Uitto J, Pulkkinen L. Molecular complexity of the cutaneous basement membrane zone. Mol Biol Report 1996: in press.
    • (1996) Mol Biol Report
    • Uitto, J.1    Pulkkinen, L.2
  • 8
    • 0023950472 scopus 로고
    • Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance
    • Niemi K-M, Somer H, Kero M, Kanerva L, Haltia M. Epidermolysis bullosa simplex associated with muscular dystrophy with recessive inheritance. Arch Dermatol 1988: 124: 551-554.
    • (1988) Arch Dermatol , vol.124 , pp. 551-554
    • Niemi, K.-M.1    Somer, H.2    Kero, M.3    Kanerva, L.4    Haltia, M.5
  • 10
    • 0024358279 scopus 로고
    • Autosomal recessive epidermolysis bullosa simplex: Generalized phenotype features suggestive for junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases
    • Fine J -D, Stenn J, Johnson L, Wright T, Bock H-G O, Horiguchi Y. Autosomal recessive epidermolysis bullosa simplex: generalized phenotype features suggestive for junctional or dystrophic epidermolysis bullosa, and association with neuromuscular diseases. Arch Dermatol 1989: 125: 931-938.
    • (1989) Arch Dermatol , vol.125 , pp. 931-938
    • Fine, J.D.1    Stenn, J.2    Johnson, L.3    Wright, T.4    Bock, H.-G.O.5    Horiguchi, Y.6
  • 11
    • 0027218086 scopus 로고
    • Epidermolysis bullosa simplex associated with spinal muscular atrophy
    • Weiss D J, Fried G W. Epidermolysis bullosa simplex associated with spinal muscular atrophy. Int J Dermatol 1993: 32: 589-593.
    • (1993) Int J Dermatol , vol.32 , pp. 589-593
    • Weiss, D.J.1    Fried, G.W.2
  • 12
    • 0028202995 scopus 로고
    • Molecular biology of the 230-kD bullous pemphigoid antigen. Cloning of the BPAG1 gene and its tissue-specific expression
    • Tamai K, Sawamura D, Choi Do H Y, Li K, Uitto J. Molecular biology of the 230-kD bullous pemphigoid antigen. Cloning of the BPAG1 gene and its tissue-specific expression. Dermatology (suppl) 1994: 189: 27-33.
    • (1994) Dermatology (Suppl) , vol.189 , pp. 27-33
    • Tamai, K.1    Sawamura, D.2    Choi Do, H.Y.3    Li, K.4    Uitto, J.5
  • 13
    • 0024329341 scopus 로고
    • Plectin: General overview and appraisal of its potential role as a subunit of the cytomatrix
    • Wiche G. Plectin: general overview and appraisal of its potential role as a subunit of the cytomatrix. CRC Crit Rev Biochem 1989: 24: 41-67.
    • (1989) CRC Crit Rev Biochem , vol.24 , pp. 41-67
    • Wiche, G.1
  • 14
    • 0027477628 scopus 로고
    • Cloning of type XVII collagen. Complementary and genomic DNA sequences of mouse 180-kDa 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-kDa 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
  • 15
    • 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 A E G, Jr., Sonnenberg A. Cloning and sequence analysis of beta-4 cDNA: an integrin subunit that contains a unique 118 kd cytoplasmic domain. EMBO J 1990: 9: 765-770.
    • (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
  • 16
    • 0025149542 scopus 로고
    • Epithelial integrin α6β4: Complete primary structure of alpha 6 and variant forms of beta 4
    • Tamura R N, Rozzo C, Starr L, et al. Epithelial integrin α6β4: complete primary structure of alpha 6 and variant forms of beta 4. J Cell Biol 1190: 111: 1593-1604.
    • (1190) J Cell Biol , vol.111 , pp. 1593-1604
    • Tamura, R.N.1    Rozzo, C.2    Starr, L.3
  • 18
    • 0029866953 scopus 로고    scopus 로고
    • Laminins: A family of diverse multifunctional molecules of basement membranes
    • Aumailley M, Krieg T. Laminins: a family of diverse multifunctional molecules of basement membranes. J Invest Dermatol 1996: 106: 209-214.
    • (1996) J Invest Dermatol , vol.106 , pp. 209-214
    • Aumailley, M.1    Krieg, T.2
  • 19
    • 0029864911 scopus 로고    scopus 로고
    • Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment
    • Champliaud M F, Lunstrum G P, Rousselle P, Nishiyama T, Keene D R, Burgeson R E. Human amnion contains a novel laminin variant, laminin 7, which like laminin 6, covalently associates with laminin 5 to promote stable epithelial-stromal attachment. J Cell Biol 1996: 132: 1189-1198.
    • (1996) J Cell Biol , vol.132 , pp. 1189-1198
    • Champliaud, M.F.1    Lunstrum, G.P.2    Rousselle, P.3    Nishiyama, T.4    Keene, D.R.5    Burgeson, R.E.6
  • 20
    • 0000783217 scopus 로고    scopus 로고
    • Cloning of the human linear IgA disease gene (LADA) encoding a novel anchoring filament protein, ladinin
    • abstr
    • Megahed M, Motoki K, McGrath J, LaForgia S, Uitto J. Cloning of the human linear IgA disease gene (LADA) encoding a novel anchoring filament protein, ladinin. J Invest Dermatol 1996: 106: 832 (abstr).
    • (1996) J Invest Dermatol , vol.106 , pp. 832
    • Megahed, M.1    Motoki, K.2    McGrath, J.3    Laforgia, S.4    Uitto, J.5
  • 21
    • 16144364461 scopus 로고    scopus 로고
    • cDNA cloning of the mouse homologue of the linear IgA disease gene
    • abstract
    • Motoki K, Megahed M, Uitto J. cDNA cloning of the mouse homologue of the linear IgA disease gene. J Invest Dermatol 1996: 106: 849 (abstract).
    • (1996) J Invest Dermatol , vol.106 , pp. 849
    • Motoki, K.1    Megahed, M.2    Uitto, J.3
  • 22
    • 0026894563 scopus 로고
    • Molecular biology and pathology of type VII collagen
    • Uitto J, Chung-Honet L C, Christiano A M. Molecular biology and pathology of type VII collagen. Exp Derm 1992: 1: 2-11.
    • (1992) Exp Derm , vol.1 , pp. 2-11
    • Uitto, J.1    Chung-Honet, L.C.2    Christiano, A.M.3
  • 23
    • 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
  • 24
    • 0020329482 scopus 로고
    • Plectin a high-molecular-weight cytoskeletal polypeptide component that copurifies with intermediate filaments of the vimentin type
    • Wiche G, Herrmann H, Leichtfried F, Pytela T. Plectin a high-molecular-weight cytoskeletal polypeptide component that copurifies with intermediate filaments of the vimentin type. Cold Spring Harbor Symposia on Quantitative Biology 1981: 46: 475-482.
    • (1981) Cold Spring Harbor Symposia on Quantitative Biology , vol.46 , pp. 475-482
    • Wiche, G.1    Herrmann, H.2    Leichtfried, F.3    Pytela, T.4
  • 25
    • 0023657934 scopus 로고
    • Plectin from bovine lenses - Chemical-properties, structural-analysis and initial identification of interaction partners
    • Weitzer G, Wiche G. Plectin from bovine lenses - chemical-properties, structural-analysis and initial identification of interaction partners. Eur J Biochem 1987: 169: 41-52.
    • (1987) Eur J Biochem , vol.169 , pp. 41-52
    • Weitzer, G.1    Wiche, G.2
  • 26
    • 0023840076 scopus 로고
    • Cytoskeleton-associated plectin - In situ localization, in vitro reconstitution, and binding to immobilized intermediate filament proteins
    • Foisner R, Leichtfried F E, Herrmann H, Small J V, Lawson D, Wiche G. Cytoskeleton-associated plectin - in situ localization, in vitro reconstitution, and binding to immobilized intermediate filament proteins. J Cell Biol. 1988: 106: 723-733.
    • (1988) J Cell Biol. , vol.106 , pp. 723-733
    • Foisner, R.1    Leichtfried, F.E.2    Herrmann, H.3    Small, J.V.4    Lawson, D.5    Wiche, G.6
  • 28
    • 0026032167 scopus 로고
    • Monoclonal-antibody mapping of structural and functional plectin epitopes
    • Foisner R, Feldman B, Sander I, Wiche G. Monoclonal-antibody mapping of structural and functional plectin epitopes. J Cell Biol 1991: 112: 397-405.
    • (1991) J Cell Biol , vol.112 , pp. 397-405
    • Foisner, R.1    Feldman, B.2    Sander, I.3    Wiche, G.4
  • 29
    • 0028326917 scopus 로고
    • Distribution of plectin, an intermediate filament-associated protein, in the adult-rat central-nervous-system
    • Errante LD, Wiche G, Shaw G. Distribution of plectin, an intermediate filament-associated protein, in the adult-rat central-nervous-system. J Neurol Res 1994: 37: 515-528.
    • (1994) J Neurol Res , vol.37 , pp. 515-528
    • Errante, L.D.1    Wiche, G.2    Shaw, G.3
  • 30
    • 0028578649 scopus 로고
    • A panel of monoclonal-antibodies to rat plectin - Distinction by epitope mapping and immunoreactivity with different tissues and cell-lines
    • Foisner R, Feldman B, Sander I, Seifert G, Artlieb U, Wiche G. A panel of monoclonal-antibodies to rat plectin - distinction by epitope mapping and immunoreactivity with different tissues and cell-lines. Acta Histochemica 1994: 96: 421-438.
    • (1994) Acta Histochemica , vol.96 , pp. 421-438
    • Foisner, R.1    Feldman, B.2    Sander, I.3    Seifert, G.4    Artlieb, U.5    Wiche, G.6
  • 31
    • 0026442554 scopus 로고
    • Immunolocalization of the intermediate filament-associated protein plectin at focal contacts and actin stress fibers
    • Seifert G J, Lawson D, Wiche G. Immunolocalization of the intermediate filament-associated protein plectin at focal contacts and actin stress fibers. Eur J Cell Biol 1992: 59: 138-147.
    • (1992) Eur J Cell Biol , vol.59 , pp. 138-147
    • Seifert, G.J.1    Lawson, D.2    Wiche, G.3
  • 32
    • 0021749865 scopus 로고
    • Identification of plectin in different human cell-types and immunolocalization at epithelial basal-cell surface-membranes
    • Wiche G, Krepler R, Artlieb U, Pytela R, Aberer W. Identification of plectin in different human cell-types and immunolocalization at epithelial basal-cell surface-membranes. Exp Cell Res 1984: 155: 43-49.
    • (1984) Exp Cell Res , vol.155 , pp. 43-49
    • Wiche, G.1    Krepler, R.2    Artlieb, U.3    Pytela, R.4    Aberer, W.5
  • 33
    • 0029620499 scopus 로고
    • Distribution and ultrastructure of plectin arrays in subclones of rat glioma C-6 cells differing in intermediate filament protein (vimentin) expression
    • Foisner R, Bohn W, Mannweiler K, Wiche G. Distribution and ultrastructure of plectin arrays in subclones of rat glioma C-6 cells differing in intermediate filament protein (vimentin) expression. J Struct Biology 1995: 115: 304-317.
    • (1995) J Struct Biology , vol.115 , pp. 304-317
    • Foisner, R.1    Bohn, W.2    Mannweiler, K.3    Wiche, G.4
  • 34
    • 0023126564 scopus 로고
    • Plectin and IFAP-300k are homologous proteins binding to microtubule-associated protein-1 and protein-2 and to the 240-kilodalton subunit of spectrin
    • Herrmann H, Wiche G. Plectin and IFAP-300k are homologous proteins binding to microtubule-associated protein-1 and protein-2 and to the 240-kilodalton subunit of spectrin. J Biol Chem 1987: 262: 1320-1325.
    • (1987) J Biol Chem , vol.262 , pp. 1320-1325
    • Herrmann, H.1    Wiche, G.2
  • 35
    • 0026014584 scopus 로고
    • Cloning and sequencing of rat plectin indicates a 466-kd polypeptide-chain with a 3-domain structure based on a central alpha-helical coiled coil
    • Wiche G, Becker B, Luber K, Weitzer G, Castanon M J, Hauptmann R, Stratowa C, Stewart M T I. Cloning and sequencing of rat plectin indicates a 466-kd polypeptide-chain with a 3-domain structure based on a central alpha-helical coiled coil. J Cell Biol 1991: 114: 83-99.
    • (1991) J Cell Biol , vol.114 , pp. 83-99
    • Wiche, G.1    Becker, B.2    Luber, K.3    Weitzer, G.4    Castanon, M.J.5    Hauptmann, R.6    Stratowa, C.7    Stewart, M.T.I.8
  • 36
    • 0025363916 scopus 로고
    • Structure of the human desmoplakins. Implications for function in the desmosomal plaque
    • Green K J, Parry D A, Steinert P M, et al. Structure of the human desmoplakins. Implications for function in the desmosomal plaque. J Biol Chem 1990:265: 2603-2612.
    • (1990) J Biol Chem , vol.265 , pp. 2603-2612
    • Green, K.J.1    Parry, D.A.2    Steinert, P.M.3
  • 37
    • 0026755162 scopus 로고
    • Comparative structural-analysis of desmoplakin, bullous pemphigoid antigen and plectin - Members of a new gene family involved in organization of intermediate filaments
    • Green K J, Virata M L A, Elgart G W, Stanley J R, Parry DAD. Comparative structural-analysis of desmoplakin, bullous pemphigoid antigen and plectin - members of a new gene family involved in organization of intermediate filaments Int J Biol Macromol 1992: 14: 145-153.
    • (1992) Int J Biol Macromol , vol.14 , pp. 145-153
    • Green, K.J.1    Virata, M.L.A.2    Elgart, G.W.3    Stanley, J.R.4    Parry, D.A.D.5
  • 38
    • 0028178390 scopus 로고
    • IFAP-300 is common to desmosomes and hemidesmosomes and is a possible linker of intermediate filaments to these junctions
    • Skalli O, Jones J C R, Gagescu R, Goldman R D. IFAP-300 is common to desmosomes and hemidesmosomes and is a possible linker of intermediate filaments to these junctions. J Cell Biol 1994: 125: 159-170.
    • (1994) J Cell Biol , vol.125 , pp. 159-170
    • Skalli, O.1    Jones, J.C.R.2    Gagescu, R.3    Goldman, R.D.4
  • 39
    • 0029741672 scopus 로고    scopus 로고
    • Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin
    • Ruhrberg C, Nasser Hajibagheri M A, Simon M, Dooley T P, Watt F M. Envoplakin, a novel precursor of the cornified envelope that has homology to desmoplakin. J Cell Biol 1996: 134: 715-729.
    • (1996) J Cell Biol , vol.134 , pp. 715-729
    • Ruhrberg, C.1    Nasser Hajibagheri, M.A.2    Simon, M.3    Dooley, T.P.4    Watt, F.M.5
  • 40
    • 0021132365 scopus 로고
    • Participation of membrane-associated proteins in the formation of the cross-linked envelope of the keratinocyte
    • Simon M, Green H. Participation of membrane-associated proteins in the formation of the cross-linked envelope of the keratinocyte. Cell 1984: 36: 827-834.
    • (1984) Cell , vol.36 , pp. 827-834
    • Simon, M.1    Green, H.2
  • 41
    • 0030020359 scopus 로고    scopus 로고
    • M-phase-specific phosphorylation and structural rearrangement of the cytoplasmic cross-linking protein plectin involve p34(cdc2) kinase
    • Foisner R, Malecz N, Dressel N, Stadler C, Wiche G. M-phase-specific phosphorylation and structural rearrangement of the cytoplasmic cross-linking protein plectin involve p34(cdc2) kinase. Mol Biol Cell 1996: 7: 273-288.
    • (1996) Mol Biol Cell , vol.7 , pp. 273-288
    • Foisner, R.1    Malecz, N.2    Dressel, N.3    Stadler, C.4    Wiche, G.5
  • 42
    • 0029961661 scopus 로고    scopus 로고
    • Human plectin - Organization of the gene, sequence-analysis, and chromosome localization (8q24)
    • Liu C G, Maercker C, Castanon M J, Hauptmann R, Wiche G. Human plectin - organization of the gene, sequence-analysis, and chromosome localization (8q24). Proc Natl Acad Sci 1996: 93: 4278-4283.
    • (1996) Proc Natl Acad Sci , vol.93 , pp. 4278-4283
    • Liu, C.G.1    Maercker, C.2    Castanon, M.J.3    Hauptmann, R.4    Wiche, G.5
  • 43
    • 9444272226 scopus 로고    scopus 로고
    • Loss of plectin causes epidermolysis bullosa with muscular dystrophy: CDNA cloning and genomic organization
    • McLean W H I, Pulkkinen L, Smith F J D et al. Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev 1996: 10: 1724-1735.
    • (1996) Genes Dev , vol.10 , pp. 1724-1735
    • McLean, W.H.I.1    Pulkkinen, L.2    Smith, F.J.D.3
  • 44
    • 9344248374 scopus 로고    scopus 로고
    • Plectin deficiency results in muscular dystrophy with epidermolysis bullosa
    • Smith F J D, Eady R A J, Leigh I M et al. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nature Genet 1996: 13: 450-457.
    • (1996) Nature Genet , vol.13 , pp. 450-457
    • Smith, F.J.D.1    Eady, R.A.J.2    Leigh, I.M.3
  • 45
    • 0029798270 scopus 로고    scopus 로고
    • Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy
    • Pulkkinen L, Smith F J D, Shimizu H et al. Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Human Molec Genet 1996: 5: 1539-1546.
    • (1996) Human Molec Genet , vol.5 , pp. 1539-1546
    • Pulkkinen, L.1    Smith, F.J.D.2    Shimizu, H.3
  • 46
    • 0028355658 scopus 로고
    • Identification of a 2nd protein product of the gene encoding a human epidermal autoantigen
    • Hopkinson S B, Jones J C R. Identification of a 2nd protein product of the gene encoding a human epidermal autoantigen. Biochem J 1994: 300: 851-857.
    • (1994) Biochem J , vol.300 , pp. 851-857
    • Hopkinson, S.B.1    Jones, J.C.R.2
  • 47
    • 0026501180 scopus 로고
    • Molecular-structure of the human desmoplakin-I and desmoplakin-II amino terminus
    • Virata M L A, Wagner R M, Parry D A D, Green K. Molecular-structure of the human desmoplakin-I and desmoplakin-II amino terminus. Proc Natl Acad Sci 1992: 89: 544-548.
    • (1992) Proc Natl Acad Sci , vol.89 , pp. 544-548
    • Virata, M.L.A.1    Wagner, R.M.2    Parry, D.A.D.3    Green, K.4
  • 48
    • 0027159977 scopus 로고
    • Expression of plectin mutant cDNA in cultured-cells indicates a role of COOH-terminal domain in intermediate filament association
    • Wiche G, Gromov D, Donovan A, Castanon M J, Fuchs E. Expression of plectin mutant cDNA in cultured-cells indicates a role of COOH-terminal domain in intermediate filament association. J Cell Biol 1993: 121: 607-619.
    • (1993) J Cell Biol , vol.121 , pp. 607-619
    • Wiche, G.1    Gromov, D.2    Donovan, A.3    Castanon, M.J.4    Fuchs, E.5
  • 49
    • 0027428693 scopus 로고
    • Functional-analysis of desmoplakin domains - Specification of the interaction with keratin versus vimentin intermediate filament network
    • Stappenbeck T S, Bornslaeger E A, Corcoran C M, Luu H H, Virata M L A, Green K J. Functional-analysis of desmoplakin domains - specification of the interaction with keratin versus vimentin intermediate filament network. J Cell Biol 1993: 123: 691-705.
    • (1993) J Cell Biol , vol.123 , pp. 691-705
    • Stappenbeck, T.S.1    Bornslaeger, E.A.2    Corcoran, C.M.3    Luu, H.H.4    Virata, M.L.A.5    Green, K.J.6
  • 51
    • 0029873478 scopus 로고    scopus 로고
    • Identification of plectin as a substrate of p34(cdc2) kinase and mapping of a single phosphorylation site
    • Malecz N, Foisner R, Stadler C, Wiche G. Identification of plectin as a substrate of p34(cdc2) kinase and mapping of a single phosphorylation site. J Biol Chem 1996: 271: 8203-8208.
    • (1996) J Biol Chem , vol.271 , pp. 8203-8208
    • Malecz, N.1    Foisner, R.2    Stadler, C.3    Wiche, G.4
  • 52
    • 0027548587 scopus 로고
    • Desmosomes and hemidesmosomes
    • Garrod D R. Desmosomes and hemidesmosomes. Curr Opin Cell Biol 1993: 5: 30-40.
    • (1993) Curr Opin Cell Biol , vol.5 , pp. 30-40
    • Garrod, D.R.1
  • 53
    • 0025728669 scopus 로고
    • Intermediate filament-plasma membrane interactions
    • Jones J C and Green K J. Intermediate filament-plasma membrane interactions. Curr Opin Cell Biol 1991: 3: 127-132.
    • (1991) Curr Opin Cell Biol , vol.3 , pp. 127-132
    • Jones, J.C.1    Green, K.J.2
  • 54
    • 0026577999 scopus 로고
    • Identification of a new hemidesmosomal protein, HD1: A major high molecular mass component of isolated hemidesmosomes
    • Hieda Y, Nishizawa Y, Uematsu J, Owaribe K. Identification of a new hemidesmosomal protein, HD1: a major high molecular mass component of isolated hemidesmosomes. J Cell Biol 1992: 116: 1497-1506.
    • (1992) J Cell Biol , vol.116 , pp. 1497-1506
    • Hieda, Y.1    Nishizawa, Y.2    Uematsu, J.3    Owaribe, K.4
  • 55
    • 0029970098 scopus 로고    scopus 로고
    • Defective expression of plectin in epidermolysis bullosa simplex with muscular dystrophy
    • Gache Y, Chavanas S, Lacour J P et al. Defective expression of plectin in epidermolysis bullosa simplex with muscular dystrophy. J Clin Invest 1996: 97: 2289-2292.
    • (1996) J Clin Invest , vol.97 , pp. 2289-2292
    • Gache, Y.1    Chavanas, S.2    Lacour, J.P.3
  • 56
    • 0026563314 scopus 로고
    • Molecular genetics of epidermolysis bullosa
    • Epstein E H Jr. Molecular genetics of epidermolysis bullosa. Science 1992: 256: 799-804.
    • (1992) Science , vol.256 , pp. 799-804
    • Epstein Jr., E.H.1
  • 57
    • 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
  • 58
    • 0029066406 scopus 로고
    • Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration
    • Guo L, Degenstein L, Dowling J et al. Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell 1995: 81: 233-244.
    • (1995) Cell , vol.81 , pp. 233-244
    • Guo, L.1    Degenstein, L.2    Dowling, J.3
  • 59
    • 0025762012 scopus 로고
    • Gene deletions causing human genetic disease - Mechanism of mutagenesis and the role of local DNA-sequence environment
    • Krawczak M, Cooper D N. Gene deletions causing human genetic disease - mechanism of mutagenesis and the role of local DNA-sequence environment. Human Genet 1991: 128: 425-441.
    • (1991) Human Genet , vol.128 , pp. 425-441
    • Krawczak, M.1    Cooper, D.N.2
  • 60
    • 0027499770 scopus 로고
    • Human gene mutation affecting RNA processing and translation
    • Cooper D N. Human gene mutation affecting RNA processing and translation. Ann Med 1993: 25: 11-17.
    • (1993) Ann Med , vol.25 , pp. 11-17
    • Cooper, D.N.1
  • 61
    • 0028934876 scopus 로고
    • Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon
    • Cui Y, Hagan K W, Zhang S, Peltz S W. Identification and characterization of genes that are required for the accelerated degradation of mRNAs containing a premature translational termination codon. Genes Dev 1995: 9: 423-436.
    • (1995) Genes Dev , vol.9 , pp. 423-436
    • Cui, Y.1    Hagan, K.W.2    Zhang, S.3    Peltz, S.W.4
  • 62
    • 0028914964 scopus 로고
    • Three muscular dystrophies: Loss of cytoskeletal-extracellular matrix linkage
    • Campbell K P. Three muscular dystrophies: loss of cytoskeletal-extracellular matrix linkage. Cell 1995: 80: 675-679.
    • (1995) Cell , vol.80 , pp. 675-679
    • Campbell, K.P.1
  • 63
    • 0015823951 scopus 로고
    • GPT-Epidermolysis bullosa simplex (EBS-Ogna) linkage in man
    • Olaisen B, Gedde-Dahl T Jr. GPT-Epidermolysis bullosa simplex (EBS-Ogna) linkage in man. Human Heredity 1973: 23: 189-196.
    • (1973) Human Heredity , vol.23 , pp. 189-196
    • Olaisen, B.1    Gedde-Dahl Jr., T.2
  • 64
    • 16144363826 scopus 로고    scopus 로고
    • Plectin abnormality in epidermolysis bullosa simplex Ogna: Non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies
    • Koss-Harnes D, Jahnsen F L, Wiche G, Soyland E, Brandtzaog P, Gedde-Dahl T Jr. Plectin abnormality in epidermolysis bullosa simplex Ogna: Non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies. Exp Derm 1996: 5: this issue.
    • (1996) Exp Derm , vol.5 , Issue.THIS ISSUE
    • Koss-Harnes, D.1    Jahnsen, F.L.2    Wiche, G.3    Soyland, E.4    Brandtzaog, P.5    Gedde-Dahl Jr., T.6
  • 65
    • 0027054120 scopus 로고
    • A case of subepidermal blister disease associated with autoantibody against 450 kD protein
    • Fujiwara S, Shinkai H, Takayasu S, Owaribe K, Tsukita S, Kageshita T. A case of subepidermal blister disease associated with autoantibody against 450 kD protein. J Dermatol 1992: 19: 610-613.
    • (1992) J Dermatol , vol.19 , pp. 610-613
    • Fujiwara, S.1    Shinkai, H.2    Takayasu, S.3    Owaribe, K.4    Tsukita, S.5    Kageshita, T.6
  • 66
    • 0029976981 scopus 로고    scopus 로고
    • Identification of a 450-kDa human epidermal autoantigen as a new member of the plectin family
    • Fujiwara S, Kohno K, Iwamatsu A, Naito I, Shinkai H. Identification of a 450-kDa human epidermal autoantigen as a new member of the plectin family. J Invest Dermatol 1996: 106: 1125-1130.
    • (1996) J Invest Dermatol , vol.106 , pp. 1125-1130
    • Fujiwara, S.1    Kohno, K.2    Iwamatsu, A.3    Naito, I.4    Shinkai, H.5
  • 67
    • 0027985051 scopus 로고
    • Identification of the epitopes on human type VII collagen for monoclonal antibodies LH 7.2 and clone I, 185
    • Lapiere J C, Hu L, Iwasaki T, Chan L S, Peavey C, Woodley D T. Identification of the epitopes on human type VII collagen for monoclonal antibodies LH 7.2 and clone I, 185. J Dermatol Sci 1994: 8: 145-150.
    • (1994) J Dermatol Sci , vol.8 , pp. 145-150
    • Lapiere, J.C.1    Hu, L.2    Iwasaki, T.3    Chan, L.S.4    Peavey, C.5    Woodley, D.T.6
  • 68
    • 0027429606 scopus 로고
    • Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa
    • Lapiere J -C, Woodley D T, Parente M G et al. Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa. J Clin Invest 1993: 92: 1831-1839.
    • (1993) J Clin Invest , vol.92 , pp. 1831-1839
    • Lapiere, J.C.1    Woodley, D.T.2    Parente, M.G.3
  • 69
    • 0029330198 scopus 로고
    • Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa
    • Uitto J, Hovnanian A, Christiane A M. Premature termination codon mutations in the type VII collagen gene (COL7A1) underlie severe recessive dystrophic epidermolysis bullosa. Proc Assoc Am Phys 1995: 107: 245-252.
    • (1995) Proc Assoc Am Phys , vol.107 , pp. 245-252
    • Uitto, J.1    Hovnanian, A.2    Christiane, A.M.3
  • 70
    • 0029705828 scopus 로고    scopus 로고
    • Molecular diagnosis of inherited skin diseases: The paradigm of dystrophic epidermolysis bullosa
    • Christiane A M, Uitto J. Molecular diagnosis of inherited skin diseases: the paradigm of dystrophic epidermolysis bullosa. Adv Dermatol 1996: 11: 199-213.
    • (1996) Adv Dermatol , vol.11 , pp. 199-213
    • Christiane, A.M.1    Uitto, J.2
  • 71
    • 0026669319 scopus 로고
    • Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases
    • Uitto J, Christiane A M. Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases. J Clin Invest 1992: 90: 687-692.
    • (1992) J Clin Invest , vol.90 , pp. 687-692
    • Uitto, J.1    Christiane, A.M.2


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