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Volumn 13, Issue 3, 1996, Pages 181-192

Genetic disorders of keratins and their associated proteins

Author keywords

epidermolysis bullosa simplex; genetic disorders; keratin

Indexed keywords

KERATIN;

EID: 0030483921     PISSN: 09231811     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0923-1811(96)00568-3     Document Type: Article
Times cited : (13)

References (105)
  • 1
    • 0028283501 scopus 로고
    • Intermediate filaments: Structure, dynamics, function, and disease
    • [1] Fuchs E, Weber K: Intermediate filaments: structure, dynamics, function, and disease. Annu Rev Biochem 63: 345-382, 1994.
    • (1994) Annu Rev Biochem , vol.63 , pp. 345-382
    • Fuchs, E.1    Weber, K.2
  • 2
    • 0011479134 scopus 로고    scopus 로고
    • Keratins: Mechanical integrators in the epidermis and hair and their role in disease
    • [2] Fuchs E: Keratins: mechanical integrators in the epidermis and hair and their role in disease. Prog Dermatol 30: 1-12, 1996.
    • (1996) Prog Dermatol , vol.30 , pp. 1-12
    • Fuchs, E.1
  • 3
    • 0020467073 scopus 로고
    • The catalog of human cytokeratins: Patterns of expression in normal epithelia, tumors, and cultured cells
    • [3] Moll R, Franke WW, Schiller DL, Geiger B, Krepier R: The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors, and cultured cells. Cell 31: 11-24, 1982
    • (1982) Cell , vol.31 , pp. 11-24
    • Moll, R.1    Franke, W.W.2    Schiller, D.L.3    Geiger, B.4    Krepier, R.5
  • 4
    • 0019783487 scopus 로고
    • Two distinct classes of keratin genes and their evolutionary significance
    • [4] Fuchs E, Coppock S, Green H, Cleveland D: Two distinct classes of keratin genes and their evolutionary significance. Cell 27: 75-84, 1981.
    • (1981) Cell , vol.27 , pp. 75-84
    • Fuchs, E.1    Coppock, S.2    Green, H.3    Cleveland, D.4
  • 5
    • 0020614212 scopus 로고
    • The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins
    • [5] Hanukoglu I, Fuchs E: The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins. Cell 33: 915-924, 1983.
    • (1983) Cell , vol.33 , pp. 915-924
    • Hanukoglu, I.1    Fuchs, E.2
  • 6
    • 0001658901 scopus 로고
    • The transformed phenotype
    • Edited by A Levine, W Topp, G Woude, JD van de Watson. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York
    • [6] Sun T-T, Eichner R, Schermer A, Cooper D, Nelson WG, Weiss RA: The Transformed Phenotype, in: The Cancer Cell, Vol. 1. (Edited by A Levine, W Topp, G Woude, JD van de Watson. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York, 1984, pp. 169-176.
    • (1984) The Cancer Cell , vol.1 , pp. 169-176
    • Sun, T.-T.1    Eichner, R.2    Schermer, A.3    Cooper, D.4    Nelson, W.G.5    Weiss, R.A.6
  • 7
    • 0020587062 scopus 로고
    • The 50-and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: Cell culture studies
    • [7] Nelson W, Sun T-T: The 50-and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies. J Cell Biol 97: 244-251, 1983.
    • (1983) J Cell Biol , vol.97 , pp. 244-251
    • Nelson, W.1    Sun, T.-T.2
  • 8
    • 0018866880 scopus 로고
    • Changes in keratin gene expression during terminal differentiation of the keratinocyte
    • [8] Fuchs E, Green H: Changes in keratin gene expression during terminal differentiation of the keratinocyte. Cell 19: 1033-1042, 1980.
    • (1980) Cell , vol.19 , pp. 1033-1042
    • Fuchs, E.1    Green, H.2
  • 9
    • 0023683885 scopus 로고
    • The use of monospecific antibodies and cRNA probes reveals abnormal pathways of terminal differentiation in human epidermal diseases
    • [9] Stoler A, Kopan R, Duvic M, Fuchs E: The use of monospecific antibodies and cRNA probes reveals abnormal pathways of terminal differentiation in human epidermal diseases. J Cell Biol 107: 427-446, 1988.
    • (1988) J Cell Biol , vol.107 , pp. 427-446
    • Stoler, A.1    Kopan, R.2    Duvic, M.3    Fuchs, E.4
  • 10
    • 0026666391 scopus 로고
    • Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation
    • [10] Collin C, Moll R, Kubicka S, Ouhayoun JP, Franke WW: Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation. Exp Cell Res 202: 132-141, 1992.
    • (1992) Exp Cell Res , vol.202 , pp. 132-141
    • Collin, C.1    Moll, R.2    Kubicka, S.3    Ouhayoun, J.P.4    Franke, W.W.5
  • 11
    • 0027771149 scopus 로고
    • Molecular characterization of the body site-specific human epidermal cytokeratin 9: CDNA cloning, amino acid sequence, and tissue specificity of gene expression
    • [11] Langbein L, Heid HW, Moll I, Franke WW: Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression. Differentiation 55: 57-71, 1993.
    • (1993) Differentiation , vol.55 , pp. 57-71
    • Langbein, L.1    Heid, H.W.2    Moll, I.3    Franke, W.W.4
  • 12
    • 0024466880 scopus 로고
    • Expression of keratin K14 in the epidermis and hair follicle: Insights into complex programs of differentiation
    • [12] Coulombe PA, Kopan R, Fuchs E: Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation. J Cell Biol 109: 2295-2312, 1989.
    • (1989) J Cell Biol , vol.109 , pp. 2295-2312
    • Coulombe, P.A.1    Kopan, R.2    Fuchs, E.3
  • 13
    • 0023181424 scopus 로고
    • Changes in keratinocyte maturation during wound healing
    • [13] Mansbridge JN, Knapp AM: Changes in keratinocyte maturation during wound healing. J Invest Derm 89: 253-262, 1987.
    • (1987) J Invest Derm , vol.89 , pp. 253-262
    • Mansbridge, J.N.1    Knapp, A.M.2
  • 14
    • 0025506964 scopus 로고
    • TGF-beta and retinoic acid: Regulators of growth and modifyers of differentiation in human epidermal cells
    • [14] Choi Y, Fuchs E: TGF-beta and retinoic acid: regulators of growth and modifyers of differentiation in human epidermal cells. Cell Regul 1: 791-809, 1990.
    • (1990) Cell Regul , vol.1 , pp. 791-809
    • Choi, Y.1    Fuchs, E.2
  • 15
    • 0023613128 scopus 로고
    • Keratins of the human hair follicle: 'Hyperproliferative' keratins consistently expressed in outer root sheath cells in vivo and in vitro
    • [15] Stark H-J, Breitkreutz D, Limat A, Bowden P, Fusenig NE: Keratins of the human hair follicle: 'hyperproliferative' keratins consistently expressed in outer root sheath cells in vivo and in vitro. Different 35: 236-248, 1987.
    • (1987) Different , vol.35 , pp. 236-248
    • Stark, H.-J.1    Breitkreutz, D.2    Limat, A.3    Bowden, P.4    Fusenig, N.E.5
  • 16
    • 0022870457 scopus 로고
    • Acidic and basic hair/nail ('hard') keratins: Their colocalization in upper cortical and cuticle cells of the human hair follicle and their relationship to 'soft' keratins
    • [16] Lynch MH, O'Guin WM, Hardy C, Mak L, Sun T-T: Acidic and basic hair/nail ('hard') keratins: their colocalization in upper cortical and cuticle cells of the human hair follicle and their relationship to 'soft' keratins. J Cell Biol 103: 2593-2606, 1986.
    • (1986) J Cell Biol , vol.103 , pp. 2593-2606
    • Lynch, M.H.1    O'Guin, W.M.2    Hardy, C.3    Mak, L.4    Sun, T.-T.5
  • 17
    • 0020540886 scopus 로고
    • Complete amino acid sequence of a mouse epidermal keratin subunit and implications for the structure of intermediate filaments
    • [17] Steinert PM, Rice DRR, Trus ACS: Complete amino acid sequence of a mouse epidermal keratin subunit and implications for the structure of intermediate filaments. Nature 302: 794-800, 1983.
    • (1983) Nature , vol.302 , pp. 794-800
    • Steinert, P.M.1    Rice, D.R.R.2    Trus, A.C.S.3
  • 18
    • 0027987929 scopus 로고
    • Making the connection: Keratin intermediate filaments and desmosomes proteins
    • [18] Kouklis P, Hutton E, Fuchs E: Making the connection: keratin intermediate filaments and desmosomes proteins. J Cell Biol 127: 1049-1060, 1994.
    • (1994) J Cell Biol , vol.127 , pp. 1049-1060
    • Kouklis, P.1    Hutton, E.2    Fuchs, E.3
  • 19
    • 0018162580 scopus 로고
    • Assembly of stratum corneum basic protein and keratin filaments in macrofibrils
    • [19] Dale BA, Holbrook KA, Steinert PM: Assembly of stratum corneum basic protein and keratin filaments in macrofibrils. Nature 276: 729-731, 1978.
    • (1978) Nature , vol.276 , pp. 729-731
    • Dale, B.A.1    Holbrook, K.A.2    Steinert, P.M.3
  • 20
    • 0027160195 scopus 로고
    • Keratin intermediate filament structure: Crosslinking studies yield quantitative information on molecular dimensions and mechanisms of assembly
    • [20] Steinert PM, Marekov LN, Fraser RDB, Parry DAD: Keratin intermediate filament structure: crosslinking studies yield quantitative information on molecular dimensions and mechanisms of assembly. J Mol Biol 230: 436-452, 1993.
    • (1993) J Mol Biol , vol.230 , pp. 436-452
    • Steinert, P.M.1    Marekov, L.N.2    Fraser, R.D.B.3    Parry, D.A.D.4
  • 21
    • 0025217859 scopus 로고    scopus 로고
    • Cyclic hair-loss and regrowth in transgenic mice overexpressing an intermediate filament gene
    • [21] Powell BC, Rogers GE: Cyclic hair-loss and regrowth in transgenic mice overexpressing an intermediate filament gene. EMBO J.
    • EMBO J.
    • Powell, B.C.1    Rogers, G.E.2
  • 22
    • 0017054951 scopus 로고
    • Self-assembly of bovine epidermal keratin filaments in vitro
    • [22] Steinert PM, Idler WW, Zimmerman SB: Self-assembly of bovine epidermal keratin filaments in vitro. J Mol Biol 108: 547-567, 1976.
    • (1976) J Mol Biol , vol.108 , pp. 547-567
    • Steinert, P.M.1    Idler, W.W.2    Zimmerman, S.B.3
  • 23
    • 0010228471 scopus 로고
    • Protein complexes of intermediate-sized filaments: Melting of cytokeratin compexes in urea reveals different polypeptide separation characteristics
    • [23] Franke WW, Schiller DL, Hatzfeld M, Winter S: Protein complexes of intermediate-sized filaments: melting of cytokeratin compexes in urea reveals different polypeptide separation characteristics, Proc Natl Acad Sci USA 80: 7113-7117, 1983.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 7113-7117
    • Franke, W.W.1    Schiller, D.L.2    Hatzfeld, M.3    Winter, S.4
  • 24
    • 0025341392 scopus 로고
    • Elucidating the early stages of keratin filament assembly
    • [24] Coulombe P, Fuchs E: Elucidating the early stages of keratin filament assembly. J Cell Biol 111: 153-169, 1990.
    • (1990) J Cell Biol , vol.111 , pp. 153-169
    • Coulombe, P.1    Fuchs, E.2
  • 25
    • 0025107377 scopus 로고
    • Tailless keratins assemble into regular intermediate filaments in vitro
    • [25] Hatzfeld M, Weber K: Tailless keratins assemble into regular intermediate filaments in vitro. J Cell Sci 97: 317-324, 1990.
    • (1990) J Cell Sci , vol.97 , pp. 317-324
    • Hatzfeld, M.1    Weber, K.2
  • 26
    • 0025284699 scopus 로고
    • The two-chain coiled-coil molecular of native epidermal keratin intermediate filaments is a type I-type II heterodimer
    • [26] Steinert PM: The two-chain coiled-coil molecular of native epidermal keratin intermediate filaments is a type I-type II heterodimer. J Biol Chem 265: 8766-8774, 1990.
    • (1990) J Biol Chem , vol.265 , pp. 8766-8774
    • Steinert, P.M.1
  • 27
    • 33749357063 scopus 로고
    • Intermediate filament structure. 3. Analysis of sequence homologies
    • [27] Conway JF, Parry DAD: Intermediate filament structure. 3. Analysis of sequence homologies. Int J Biol Macromol 10: 79-98, 1988.
    • (1988) Int J Biol Macromol , vol.10 , pp. 79-98
    • Conway, J.F.1    Parry, D.A.D.2
  • 28
    • 0023545331 scopus 로고
    • The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines
    • [28] Albers K, Fuchs E: The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines. J Cell Biol 105: 791-806, 1987.
    • (1987) J Cell Biol , vol.105 , pp. 791-806
    • Albers, K.1    Fuchs, E.2
  • 29
    • 0024504168 scopus 로고
    • Expression of mutant keratin cD-NAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments
    • [29] Albers K, Fuchs E: Expression of mutant keratin cD-NAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments. J Cell Biol 108: 1477-1493, 1989.
    • (1989) J Cell Biol , vol.108 , pp. 1477-1493
    • Albers, K.1    Fuchs, E.2
  • 30
    • 0025073744 scopus 로고
    • Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation
    • [30] Lu X, Lane EB: Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: specific domain functions in keratin stabilization and filament formation. Cell 62: 681-696, 1990.
    • (1990) Cell , vol.62 , pp. 681-696
    • Lu, X.1    Lane, E.B.2
  • 31
    • 0025882273 scopus 로고
    • Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain
    • [31] Hatzfeld M, Weber K: Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain. J Cell Sci 99: 351-362, 1990.
    • (1990) J Cell Sci , vol.99 , pp. 351-362
    • Hatzfeld, M.1    Weber, K.2
  • 32
    • 0026329610 scopus 로고
    • A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases
    • [32] Coulombe PA, Hutton ME, Vassar R, Fuchs E: A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J Cell Biol 115: 1661-1674, 1991.
    • (1991) J Cell Biol , vol.115 , pp. 1661-1674
    • Coulombe, P.A.1    Hutton, M.E.2    Vassar, R.3    Fuchs, E.4
  • 33
    • 0026640553 scopus 로고
    • The roles of K5 and K14 head, tail and R/KLLEGE domains in keratin filament assembly in vitro
    • [33] Wilson AK, Coulombe PA, Fuchs E: The roles of K5 and K14 head, tail and R/KLLEGE domains in keratin filament assembly in vitro. J Cell Biol 119: 401-414, 1992.
    • (1992) J Cell Biol , vol.119 , pp. 401-414
    • Wilson, A.K.1    Coulombe, P.A.2    Fuchs, E.3
  • 34
    • 0026511054 scopus 로고
    • Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations
    • [34] Letai A, Coulombe P, Fuchs E: Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol 116: 1181-1195, 1992.
    • (1992) J Cell Biol , vol.116 , pp. 1181-1195
    • Letai, A.1    Coulombe, P.2    Fuchs, E.3
  • 35
    • 0020446742 scopus 로고
    • The cDNA sequence of a human epidermal keratin: Divergence of sequence but conservation of structure among intermediate filament proteins
    • [35] Hanukoglu I, Fuchs E: The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins. Cell 31: 243-252, 1982.
    • (1982) Cell , vol.31 , pp. 243-252
    • Hanukoglu, I.1    Fuchs, E.2
  • 36
    • 0027476386 scopus 로고
    • The conserved H1 domain of the type II keratin 1 chain plays an essential role in the alignment of nearest neighbor molecules in mouse and human keratin 1/keratin 10 intermediate filaments at the two-to four-molecule level of structure
    • [36] Steinert PM, Parry DAD: The conserved H1 domain of the type II keratin 1 chain plays an essential role in the alignment of nearest neighbor molecules in mouse and human keratin 1/keratin 10 intermediate filaments at the two-to four-molecule level of structure. J Biol Chem 268: 2878-2887, 1993.
    • (1993) J Biol Chem , vol.268 , pp. 2878-2887
    • Steinert, P.M.1    Parry, D.A.D.2
  • 37
    • 0022519369 scopus 로고
    • The nuclear lamina is a meshwork of intermediate-type filaments
    • [37] Aebi U, Cohn JB, Gerace LL: The nuclear lamina is a meshwork of intermediate-type filaments. Nature 323: 560-564, 1986.
    • (1986) Nature , vol.323 , pp. 560-564
    • Aebi, U.1    Cohn, J.B.2    Gerace, L.L.3
  • 38
    • 0026570065 scopus 로고
    • A synthetic peptide representing the consensus sequence motif at the carboxy-terminal end of the rod domain inhibits intermediate filament assembly and disassembles preformed filaments
    • [38] Hatzfeld M, Weber K: A synthetic peptide representing the consensus sequence motif at the carboxy-terminal end of the rod domain inhibits intermediate filament assembly and disassembles preformed filaments. J Cell Biol 116: 157-166, 1992.
    • (1992) J Cell Biol , vol.116 , pp. 157-166
    • Hatzfeld, M.1    Weber, K.2
  • 39
    • 0020591925 scopus 로고
    • The fibrillar substructure of keratin filaments unraveled
    • [39] Aebi U, Fowler WE, Rew P, Sun T-T: The fibrillar substructure of keratin filaments unraveled. J Cell Biol 97: 1131-1143, 1983.
    • (1983) J Cell Biol , vol.97 , pp. 1131-1143
    • Aebi, U.1    Fowler, W.E.2    Rew, P.3    Sun, T.-T.4
  • 40
    • 0021014680 scopus 로고
    • Epidermal keratin filaments assembled in vitro have masses-per-unit length that scale according to average subunit mass: Structural basis for homologous packing of subunits in intermediate filaments
    • [40] Steven A, Hainfeld J, Trus B, Wall J, Steinert P: Epidermal keratin filaments assembled in vitro have masses-per-unit length that scale according to average subunit mass: structural basis for homologous packing of subunits in intermediate filaments. J Cell Biol 97: 1939-1944, 1983.
    • (1983) J Cell Biol , vol.97 , pp. 1939-1944
    • Steven, A.1    Hainfeld, J.2    Trus, B.3    Wall, J.4    Steinert, P.5
  • 41
    • 0025633303 scopus 로고
    • Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro
    • [41] Coulombe P, Chan YM, Albers K, Fuchs E: Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro. J Cell Biol 111: 3049-3064, 1990.
    • (1990) J Cell Biol , vol.111 , pp. 3049-3064
    • Coulombe, P.1    Chan, Y.M.2    Albers, K.3    Fuchs, E.4
  • 42
    • 0025976155 scopus 로고
    • Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
    • [42] Vassar R, Coulombe PA, Degenstein L, Albers K, Fuchs E: Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64: 365-380, 1991.
    • (1991) Cell , vol.64 , pp. 365-380
    • Vassar, R.1    Coulombe, P.A.2    Degenstein, L.3    Albers, K.4    Fuchs, E.5
  • 43
    • 0025861772 scopus 로고
    • Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
    • [43] Coulombe PA, Hutton ME, Letai A, Hebert A, Paller AS, Fuchs E: Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66: 1301-1311, 1991.
    • (1991) Cell , vol.66 , pp. 1301-1311
    • Coulombe, P.A.1    Hutton, M.E.2    Letai, A.3    Hebert, A.4    Paller, A.S.5    Fuchs, E.6
  • 44
    • 0026725118 scopus 로고
    • Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis
    • [44] Fuchs E, Esteves RA, Coulombe PA: Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis. Proc Natl Acad Sci USA 89: 6906-6910, 1992.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 6906-6910
    • Fuchs, E.1    Esteves, R.A.2    Coulombe, P.A.3
  • 45
    • 0028033095 scopus 로고
    • Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis
    • [45] Anton-Lamprecht I: Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis. J Invest Dermatol 103: 65-125, 1994.
    • (1994) J Invest Dermatol , vol.103 , pp. 65-125
    • Anton-Lamprecht, I.1
  • 46
    • 0020031469 scopus 로고
    • Epidermolysis bullosa herpetiformis Dowling-Meara: Report of a case and pathogenesis
    • [46] Anton-Lamprecht I, Schnyder VW: Epidermolysis bullosa herpetiformis Dowling-Meara: report of a case and pathogenesis. Dermatology 164: 221-235, 1982.
    • (1982) Dermatology , vol.164 , pp. 221-235
    • Anton-Lamprecht, I.1    Schnyder, V.W.2
  • 47
    • 0024539687 scopus 로고
    • Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex
    • [47] Kitajima Y, Inoue S, Yaoita H: Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. Arch Dermatol Res 281: 5-10, 1989.
    • (1989) Arch Dermatol Res , vol.281 , pp. 5-10
    • Kitajima, Y.1    Inoue, S.2    Yaoita, H.3
  • 48
    • 0026345962 scopus 로고
    • Epidermolysis butlosa simplex: Evidence in two families for keratin gene abnormalities
    • [48] Bonifas JM, Rothman AL, Epstein EH: Epidermolysis butlosa simplex: evidence in two families for keratin gene abnormalities. Science 254: 1202-1205, 1991.
    • (1991) Science , vol.254 , pp. 1202-1205
    • Bonifas, J.M.1    Rothman, A.L.2    Epstein, E.H.3
  • 49
    • 0023867610 scopus 로고
    • A group of type I keratin genes on human chromosome 17: Characterization and expression
    • [49] Rosen berg M, RayChaudhury A, Shows TB, LeBeau MM, Fuchs E: A group of type I keratin genes on human chromosome 17: characterization and expression. Mol Cell Biol 8: 722-736, 1988.
    • (1988) Mol Cell Biol , vol.8 , pp. 722-736
    • Rosen berg, M.1    RayChaudhury, A.2    Shows, T.B.3    LeBeau, M.M.4    Fuchs, E.5
  • 50
    • 0025910467 scopus 로고
    • Three epidermal and one epithelial keratin gene map to human chromosome 12
    • [50] Rosenberg M, Fuchs E, Le Beau MM, Eddy R, Shows TB: Three epidermal and one epithelial keratin gene map to human chromosome 12. Cell Cytogenet 57: 33-38, 1991.
    • (1991) Cell Cytogenet , vol.57 , pp. 33-38
    • Rosenberg, M.1    Fuchs, E.2    Le Beau, M.M.3    Eddy, R.4    Shows, T.B.5
  • 51
    • 0023853921 scopus 로고
    • The CpG dinucleotide and human genetic disease
    • [51] Cooper DN, Youssoufian H: The CpG dinucleotide and human genetic disease. Hum Genet 78: 151-155, 1988.
    • (1988) Hum Genet , vol.78 , pp. 151-155
    • Cooper, D.N.1    Youssoufian, H.2
  • 52
    • 0027316910 scopus 로고
    • A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: Implications for diagnosis
    • [52] Stephens K, Sybert VP, Wijsman EM, Ehrlich P, Spencer A: A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. J Invest Dermatol 101: 240-243, 1993.
    • (1993) J Invest Dermatol , vol.101 , pp. 240-243
    • Stephens, K.1    Sybert, V.P.2    Wijsman, E.M.3    Ehrlich, P.4    Spencer, A.5
  • 53
  • 54
    • 0029928468 scopus 로고    scopus 로고
    • Genetic analysis of a severe case of dowling-meara epidermolysis bullosa simplex
    • [54] Chan YM, Cheng J, Gedde-Dahl T, Niemi KM, Fuchs E: Genetic analysis of a severe case of dowling-meara epidermolysis bullosa simplex. J Invest Dermatol 3106: 327-334, 1996.
    • (1996) J Invest Dermatol , vol.3106 , pp. 327-334
    • Chan, Y.M.1    Cheng, J.2    Gedde-Dahl, T.3    Niemi, K.M.4    Fuchs, E.5
  • 55
    • 0025013610 scopus 로고
    • Structure of an invertebrate gene encoding cytophsmic intermediate filament (IF) proteins: Implications from the origin and the diversification of IF proteins
    • [55] Dodemont H, Riemer D. Weber K: Structure of an invertebrate gene encoding cytophsmic intermediate filament (IF) proteins: implications from the origin and the diversification of IF proteins. EMBO J 9: 4083-4094, 1990.
    • (1990) EMBO J , vol.9 , pp. 4083-4094
    • Dodemont, H.1    Riemer, D.2    Weber, K.3
  • 57
    • 0027327669 scopus 로고
    • The genetic basis of Weber-cockayne epidermolysis bullosa simplex
    • [57] Chan YM, Yu QC, Fine JD, Fuchs E: The genetic basis of Weber-cockayne epidermolysis bullosa simplex. Proc Natl Acad Sci USA 90: 7414-7418, 1993.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 7414-7418
    • Chan, Y.M.1    Yu, Q.C.2    Fine, J.D.3    Fuchs, E.4
  • 59
    • 0027527360 scopus 로고
    • Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
    • [59] Rugg EL, Morley SM, Smith FJD, Boxer M, Tidman MJ, Navsaria H, Leigh IM, Lane EB: Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. Nat Genet 5: 294-300, 1993.
    • (1993) Nat Genet , vol.5 , pp. 294-300
    • Rugg, E.L.1    Morley, S.M.2    Smith, F.J.D.3    Boxer, M.4    Tidman, M.J.5    Navsaria, H.6    Leigh, I.M.7    Lane, E.B.8
  • 60
    • 0027480639 scopus 로고
    • A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex
    • [60] Hovnanian A, Pollack E, Hilal L, Rochat A, Prost C, Barrandon Y, Goosens MA: A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. Nat Genet 3: 327-332, 1993.
    • (1993) Nat Genet , vol.3 , pp. 327-332
    • Hovnanian, A.1    Pollack, E.2    Hilal, L.3    Rochat, A.4    Prost, C.5    Barrandon, Y.6    Goosens, M.A.7
  • 61
    • 0027315176 scopus 로고
    • Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized kobner type of epidermolysis bullosa simplex (EBS)
    • [61] Dong W. Ryynanen M, Uitto J: Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized kobner type of epidermolysis bullosa simplex (EBS). Hum Mutat 2: 94-102, 1993.
    • (1993) Hum Mutat , vol.2 , pp. 94-102
    • Dong, W.1    Ryynanen, M.2    Uitto, J.3
  • 63
    • 0028180965 scopus 로고
    • A novel mutation of leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex
    • [63] Yamanishi K, Matsuki M, Konishi K, Yasuno H: A novel mutation of leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. Hum Mol Genet 3: 1171-1172, 1994.
    • (1994) Hum Mol Genet , vol.3 , pp. 1171-1172
    • Yamanishi, K.1    Matsuki, M.2    Konishi, K.3    Yasuno, H.4
  • 64
    • 0029064080 scopus 로고
    • A common keratin 5 gene mutation in epidermolysis bullosa simplex - Weber-Cockayne
    • [64] Ehrlich P, Sybert VP, Spencer A, Stephens K: A common keratin 5 gene mutation in epidermolysis bullosa simplex - Weber-Cockayne. J Invest Dermatol 104: 877-879, 1995.
    • (1995) J Invest Dermatol , vol.104 , pp. 877-879
    • Ehrlich, P.1    Sybert, V.P.2    Spencer, A.3    Stephens, K.4
  • 65
    • 0027503398 scopus 로고
    • Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex
    • [65] Letai A, Coulombe PA, McCormick MB, Yu QC, Hutton E, Fuchs E: Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natl Acad Sci USA 90: 3197-3201, 1993.
    • (1993) Proc Natl Acad Sci USA , vol.90 , pp. 3197-3201
    • Letai, A.1    Coulombe, P.A.2    McCormick, M.B.3    Yu, Q.C.4    Hutton, E.5    Fuchs, E.6
  • 67
    • 0020025128 scopus 로고
    • Ultrastructure of blister formation in epidermolysis bullosa hereditaria. V. Epidermolysis bullosa simplex localisata type Weber-Cockayne
    • [67] Haneke E, Anton-Lamprecht I: Ultrastructure of blister formation in epidermolysis bullosa hereditaria. V. Epidermolysis bullosa simplex localisata type Weber-Cockayne. J Invest Dermatol 78: 219-223, 1982.
    • (1982) J Invest Dermatol , vol.78 , pp. 219-223
    • Haneke, E.1    Anton-Lamprecht, I.2
  • 70
    • 0026699760 scopus 로고
    • The genetic basis of epidermolytic hyperkeratosis: A disorder of differentiation-specific epidermal keratin genes
    • [70] Cheng J. Syder AJ, Yu QC, Letai A, Paller AS, Fuchs E: The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell 70: 811-819, 1992.
    • (1992) Cell , vol.70 , pp. 811-819
    • Cheng, J.1    Syder, A.J.2    Yu, Q.C.3    Letai, A.4    Paller, A.S.5    Fuchs, E.6
  • 73
    • 0028347894 scopus 로고
    • Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis: Correlation between location and disease severity
    • [73] Syder AJ, Yu QC, Paller AS, Giudice G, Pearson R, Fuchs E: Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis: correlation between location and disease severity. J Clin Invest 93: 1533-1542, 1994.
    • (1994) J Clin Invest , vol.93 , pp. 1533-1542
    • Syder, A.J.1    Yu, Q.C.2    Paller, A.S.3    Giudice, G.4    Pearson, R.5    Fuchs, E.6
  • 79
    • 0028135470 scopus 로고
    • A direct link between clinical and genetic mosaicism: The genetic basis of a form of epidermal nevus
    • [79] Paller AS, Syder AJ, Chan YM, Yu QC, Hutton E, Tadini G, Fuchs E: A direct link between clinical and genetic mosaicism: the genetic basis of a form of epidermal nevus. N Engl J Med 331: 1408-1415, 1994.
    • (1994) N Engl J Med , vol.331 , pp. 1408-1415
    • Paller, A.S.1    Syder, A.J.2    Chan, Y.M.3    Yu, Q.C.4    Hutton, E.5    Tadini, G.6    Fuchs, E.7
  • 82
    • 0028276415 scopus 로고
    • Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma
    • [82] Hennies HC, Zehender D, Kunze J, Kuster W, Reis A: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma. Hum Genet 93: 649-654, 1994.
    • (1994) Hum Genet , vol.93 , pp. 649-654
    • Hennies, H.C.1    Zehender, D.2    Kunze, J.3    Kuster, W.4    Reis, A.5
  • 85
    • 0029050246 scopus 로고
    • Efafin, filaggrin, keratin IFs, loricrin and small proline-rich proteins 1 and 2 are crosslinked components of the cornified envelope
    • [85] Steinert PM, Marekov LN: Efafin, filaggrin, keratin IFs, loricrin and small proline-rich proteins 1 and 2 are crosslinked components of the cornified envelope. J Biol Chem 270: 17702-17711, 1995.
    • (1995) J Biol Chem , vol.270 , pp. 17702-17711
    • Steinert, P.M.1    Marekov, L.N.2
  • 86
    • 0029895526 scopus 로고    scopus 로고
    • Abnormalities in desmosomes, proliferation and differentiation in the epidermis of mice expressing a mutant desmosomal cadherin
    • [86] Allen E, Yu QC, Fuchs E: Abnormalities in desmosomes, proliferation and differentiation in the epidermis of mice expressing a mutant desmosomal cadherin. J Cell Biol 133: 1367-1382, 1996.
    • (1996) J Cell Biol , vol.133 , pp. 1367-1382
    • Allen, E.1    Yu, Q.C.2    Fuchs, E.3
  • 89
    • 0028844205 scopus 로고
    • Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus
    • [89] Richard G, DeLaurenzi V, Didona B, Bale SJ, Compton JG: Keratin 13 point mutation underlies the hereditary mucosal epithelia disorder white sponge nevus. Nat Genet 11: 453-455, 1995.
    • (1995) Nat Genet , vol.11 , pp. 453-455
    • Richard, G.1    DeLaurenzi, V.2    Didona, B.3    Bale, S.J.4    Compton, J.G.5
  • 91
    • 0027548587 scopus 로고
    • Desmosomes and hemidesmosomes
    • [91] Garrod DR: Desmosomes and hemidesmosomes. Curr Opin Cell Biol 5: 30-40, 1993.
    • (1993) Curr Opin Cell Biol , vol.5 , pp. 30-40
    • Garrod, D.R.1
  • 93
    • 0025979365 scopus 로고
    • Identification of two collagen domains within the bullous pemphigoid autoantigen, BP180
    • [93] Giudice GJ, Squiquera HL, Elias PM, Diaz LA: Identification of two collagen domains within the bullous pemphigoid autoantigen, BP180. J Clin Invest 87: 734-738, 1991.
    • (1991) J Clin Invest , vol.87 , pp. 734-738
    • Giudice, G.J.1    Squiquera, H.L.2    Elias, P.M.3    Diaz, L.A.4
  • 94
    • 0027301255 scopus 로고
    • Cell adhesion molecules as targets of autoantibodies in pemphigus and pemphigoid, bullous diseases due to defective epidermal cell adhesion
    • [94] Stanley JR: Cell adhesion molecules as targets of autoantibodies in pemphigus and pemphigoid, bullous diseases due to defective epidermal cell adhesion. Adv Immunol 53: 291-325, 1993.
    • (1993) Adv Immunol , vol.53 , pp. 291-325
    • Stanley, J.R.1
  • 95
    • 0029666420 scopus 로고    scopus 로고
    • Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival
    • in press
    • [95] Dowling J, Yu QC, Fuchs E: Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. J Cell Biol, 1996 (in press).
    • (1996) J Cell Biol
    • Dowling, J.1    Yu, Q.C.2    Fuchs, E.3
  • 96
    • 0028180092 scopus 로고
    • Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa
    • [96] Pulkkinen L, Christiano AM, Airenne T, Haakana H, Tryggvason K, Uitto J: Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet 6: 293-297, 1994.
    • (1994) Nat Genet , vol.6 , pp. 293-297
    • Pulkkinen, L.1    Christiano, A.M.2    Airenne, T.3    Haakana, H.4    Tryggvason, K.5    Uitto, J.6
  • 97
    • 0028568985 scopus 로고
    • A homozygous nonsense mutation in the beta3 chain gene of laminin 5 (LAMB3) in Herlitz's junctional epidermolysis bullosa
    • [97] Pulkkinen L, Christiano AM, Gerecke DR, Wagman DW, Burgeson RE, Pittelkow MR, Uitto J: A homozygous nonsense mutation in the beta3 chain gene of laminin 5 (LAMB3) in Herlitz's junctional epidermolysis bullosa. Genomics 24: 357-360, 1994.
    • (1994) Genomics , vol.24 , pp. 357-360
    • Pulkkinen, L.1    Christiano, A.M.2    Gerecke, D.R.3    Wagman, D.W.4    Burgeson, R.E.5    Pittelkow, M.R.6    Uitto, J.7
  • 100
    • 0029670320 scopus 로고    scopus 로고
    • Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa
    • [100] Christiano AM, Pulkkinen L, Eady RAJ, Uitto J: Compound heterozygosity for nonsense and missense mutations in the LAMB3 gene in nonlethal junctional epidermolysis bullosa. J Invest Dermatol 106: 775-777, 1996.
    • (1996) J Invest Dermatol , vol.106 , pp. 775-777
    • Christiano, A.M.1    Pulkkinen, L.2    Eady, R.A.J.3    Uitto, J.4
  • 101
    • 0029670321 scopus 로고    scopus 로고
    • A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz's junctional epidermolysis bullosa in patients of Pakistani ancestry: Evidence for a founder effect
    • [101] McGrath JA, Kivirikko S, Ciatti S, Moss C, Christiano AM, Uitto J: A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz's junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect. J Invest Dermatol 106: 781-784, 1996.
    • (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
  • 103
    • 0029066406 scopus 로고
    • Gene targeting of BPAG1: Abnormalities in mechanical strength and cell migration in stratified squamous epithelia and severe neurologic degeneration
    • [103] Guo L, Degenstein L, Dowling J, Yu QC, Wollmann R, Perman B, Fuchs E: Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified squamous epithelia and severe neurologic degeneration. Cell 81: 233-243, 1995.
    • (1995) Cell , vol.81 , pp. 233-243
    • Guo, L.1    Degenstein, L.2    Dowling, J.3    Yu, Q.C.4    Wollmann, R.5    Perman, B.6    Fuchs, E.7
  • 104
    • 0030598838 scopus 로고    scopus 로고
    • An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments
    • in press
    • [104] Yang Y, Dowling J, Yu QC, Kouklis P, Cleveland DW, Fuchs E: An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Cell, 1996 (in press).
    • (1996) Cell
    • Yang, Y.1    Dowling, J.2    Yu, Q.C.3    Kouklis, P.4    Cleveland, D.W.5    Fuchs, E.6
  • 105
    • 0026032167 scopus 로고
    • Monoclonal antibody mapping of structural and functional plectin epitopes
    • [105] Foisner R, Feldman B, Sander L, Wiche G: Monoclonal antibody mapping of structural and functional plectin epitopes. J Cell Biol 112: 397-405, 1991.
    • (1991) J Cell Biol , vol.112 , pp. 397-405
    • Foisner, R.1    Feldman, B.2    Sander, L.3    Wiche, G.4


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