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Albers, K. and Fuchs, E (1987). The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines. J. Cell Biol 105, 791-806.[Abstract/Free Full Text]

Albers, K. and Fuchs, E (1989). Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments. J. CellBiol 108, 1477-1493.[Abstract/Free Full Text]

Albers, K. and Fuchs, E (1992). The molecular biology of intermediate filament proteins. Int. Rev. Cytol 134, 243-279.[Medline]

Anton-Lamprecht, I (1983). Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolysis: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. J. Invest. Dermatol 81, 149-.[Medline]

Bader, B. L., Magin, T. M., Freudemann, M., Stumpp, S. and Franke, W. W (1991). Intermediate filaments formed de novo from tail-less cytokeratins in the cytoplasm and in the nucleus. Eur. J. Cell Biol 56, 84-103.[Medline]

Bonifas, J. M., Rothman, A. L. and Epstein, E. H (1991). Epidermolysis bullosa simplex: Evidence in two families for keratin gene abnormalities. Science 254, 1202-1205.[Abstract/Free Full Text]

Chan, Y. M., Yu, Q. C., Fine, J. D. and Fuchs, E (1993). The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. Proc. Nat. Acad. Sci. USA 90, 7414-7418.[Abstract/Free Full Text]

Cheng, J., Syder, A. J., Yu, Q. C., Letai, A., Paller, A. S. and Fuchs, E (1992). The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell 70, 811-819.[Medline]

Chipev, C. C., Korge, B. P., Markova, N., Bale, S. J., DiGiovanna, J. J., Compton, J. G. and Steinert, P. M (1992). A leucineproline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell 70, 821-828.[Medline]

Compton, J. G., DiGiovanna, J. J., Santucci, S. K., Kearns, K. S., Amos, C. I., Abangan, D. L., Korge, B. P., McBride, O. W., Steinert, P. M. and Bale, S. J (1992). Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q. Nature Genet 1, 301-305.[Medline]

Conway, J. F. and Parry, D. A. D (1988). Intermediate filament structure: 3. Analysis of sequence homologies. Int. J. Biol. Macromol 10, 79-98.

Coulombe P., Chan, Y. M., Albers, K. and Fuchs, E (1990). 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.[Abstract/Free Full Text]

Coulombe, P. A., Hutton, M. E., Vassar, R. and Fuchs, E (1991). A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J. Cell Biol 115, 1661-1674.[Abstract/Free Full Text]

Coulombe, P. A., Hutton, M. E., Letai, A., Hebert, A., Paller, A. S. and Fuchs, E (1991). Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell 66, 1301-1311.[Medline]

Dong, W., Ryynanen, M. and Uitto, J (1993). Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Koebner type of epidermolysis bullosa simplex (EBS). Hum. Mutat 2, 94-102.[Medline]

Fuchs, E. and Green, H (1980). Changes in keratin gene expression during terminal differentiation of the keratinocyte. Cell 19, 1033-1042.[Medline]

Fuchs, E. and Coulombe, P. A (1992). Of mice and men: genetic skin diseases of keratin. Cell 69, 899-902.[Medline]

Fuchs, E., Esteves, R. A. and Coulombe, P. A (1992). Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis. Proc. Nat. Acad. Sci. USA 89, 6906-6910.[Abstract/Free Full Text]

Geisler, N., Schunemann, J. and Weber, K (1992). Chemical cross-linking indicates a staggered and antiparallel protofilament of desmin intermediate filaments and characterizes one higher-level complex between protofilaments. Eur. J. Biochem 206, 841-852.[Medline]

Gill, S. R., Wong, P. C., Monteiro, M. J. and Cleveland, D. W (1990). Assembly properties of dominant and recessive mutations in the small mouse neurofilament (NF-L) subunit. J. Cell Biol 111, 2005-2019.[Abstract/Free Full Text]

Hanukoglu, I. and Fuchs, E (1983). The cDNA sequence of a type II cytoskeletal keratin reveals constant and variable structural domains among keratins. Cell 33, 915-924.[Medline]

Hatzfeld, M. and Weber, K (1990). Tail-less keratins assemble into regular intermediate filaments in vitro. J. Cell Sci 97, 317-324.[Abstract/Free Full Text]

Hatzfeld, M. and Weber, K (1991). 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.[Abstract/Free Full Text]

Humphries, M. M., Sheils, D. M., Farrar, G. J., Kumar-Singh, R., Kenna, P. F., Mansergh, F. C., Jordan, S. A., Young, M. and Humphries, P (1993). A mutation (MetArg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. Hum. Mutat 2, 37-42.[Medline]

Lane, E. B., Rugg, E. L., Navsaria, H., Leigh, I. M., Heagerty, A. H. M., Ishida-Yamamoto, A. and Eady, R. A. J (1992). A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature 356, 244-246.[Medline]

Lersch, R., Stellmach, V., Stocks, C., Giudice, G. and Fuchs, E (1989). Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control. Mol. Cell. Biol 9, 3685-3697.[Abstract/Free Full Text]

Lessin, S. R., Huebner, K., Isobe, M., Croce, C. M. and Steinert, P. M (1988). Chromosomal mapping of human keratin genes: evidence of non-linkage. J. Invest. Dermatol 91, 572-578.[Medline]

Letai, A., Coulombe, P. and Fuchs, E (1992). 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.[Abstract/Free Full Text]

Letai, A., Coulombe, P. A., McCormick, M. B., Yu, Q. C., Hutton, E. and Fuchs, E (1993). Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc. Nat. Acad. Sci. USA 90, 3197-3201.[Abstract/Free Full Text]

Lu, X. and Lane, E. B (1990). Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: specific domain functions in keratin stabilization and filament formation. Cell 62, 681-696.[Medline]

Marchuk, D., McCrohon, S. and Fuchs, E (1984). Remarkable conservation of structure among intermediate filament genes. Cell 39, 491-498.[Medline]

McConnell, S. J. and Yaffe, M. P (1993). Intermediate filament formation by a yeast protein essential for organelle inheritance. Science 260, 687-688.[Abstract/Free Full Text]

McKenna, K. E., Hughes, A. E., Bingham, E. A. and Nevin, N. C (1992). Linkage of epidermolysis bullosa simplex to keratin gene loci. J. Med. Genet 29, 568-570.[Abstract]

Nakamura, Y., Martin, C., Myers, R., Ballard, L., Leppert, M., O'Connel, P., Lathrop, G. M., Lalouel, J. M. and White, R (1988). Isolation and mapping of a polymorphic DNA sequence pCMM86 on chromosome 17q (D17S74). Nucl. Acids Res 16, 5223-.[Free Full Text]

Nakamura, Y., Fujimoto, E., Martin, C., O'Connel, P., Leppert, M., Lathrop, G. M., Lalouel, J. M. and White, R (1988). Isolation and mapping of a polymorphic DNA sequence pEFD-33. 2 on chromosome 12 (D12S14). Nucl. Acids Res 16, 778-.[Free Full Text]

Raats, J. M. H., Pieper, F. R., Vree Egberts, W. T. M., Verrijp, K. N., Ramaekers, F. C. S. and Bloemendal, H (1990). Assembly of amino-terminally deleted desmin in vimentin-free cells. J. Cell Biol 111, 1971-1985.[Abstract/Free Full Text]

Raats, J. M. H., Henderik, J. B. J., Verdijk, M., van Oort, F. L. G., Gerards, W. L. H., Ramaekers, F. C. S. and Bloemendal, H (1991). Assembly of carboxy-terminally deleted desmin in vimentin-free cells. Eur. J. Cell Biol 56, 84-103.

Roop, D. R., Huitfeldt, H., Kilkenny, A. and Yuspa, S. H (1987). Regulated expression of differentiation-associated keratins in cultured epidermal cells detected by monospecific antibodies to unique peptides of mouse epidermal keratins. Differentiation 35, 143-150.[Medline]

Rosenberg, M., RayChaudhury, A., Shows, T. B., LeBeau, M. M. and Fuchs, E (1988). A group of type I keratin genes on human chromosome 17: characterization and expression. Mol. Cell. Biol 8, 722-736.[Abstract/Free Full Text]

Rothnagel, J. A., Dominey, A. M., Dempsey, L. D., Longley, M. A., Greenhalgh, D. A., Gagne, T. A., Huber, M., Frenk, E., Hohl, D. and Roop, D. R (1992). Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science 257, 1128-1130.[Abstract/Free Full Text]

Rugg, E. L., Morley, S. M., Smith, F. J. D., Boxer, M., Tidman, M. J., Navsaria, H., Leigh, I. M. and Lane, E. B (1993). Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. Nature Genet 5, 294-300.[Medline]

Ryynanen, M., Knowlton, R. G. and Uitto, J (1991). Mapping of epidermolysis bullosa simplex mutation to chromosome 12. Amer. J. Hum. Genet 49, 978-984.[Medline]

Sanger, F., Nicklen, S., and Coulson, A. R (1977). DNA sequencing with chain-terminating inhibitors. Proc. Nat. Acad. Sci. USA 74, 5463-5467.[Abstract/Free Full Text]

Steinert, P. M., Marekov, L. N., Fraser, R. D. B. and Parry, D. A. D (1993). Keratin intermediate filament structure: crosslinking studies yield quantitative information on molecular dimensions and mechanisms of assembly. J. Mol. Biol 230, 436-452.[Medline]

Stephens, K., Sybert, V. P., Wijsman, E. M., Ehrlich, P. and Spencer, A (1993). A keratin 14 mutational hot spot for epidermolysis bullosa simplex, dowling-meara: implications for diagnosis. J. Invest. Dermatol 101, 240-243.[Medline]

Vassar, R., Coulombe, P. A., Degenstein, L., Albers, K. and Fuchs, E (1991). Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell 64, 365-380.[Medline]

Weaver, E. J. and Knowlton, R. G (1989). Characterization of a HinfI polymorphism in type II collagen gene (Col2A1). Human gene mapping 10. Cytogenet. Cell Genet 51, 1103-.

Weissenbach, J., Gyapay, G., Dib, C., Vignal, A., Morissette, J., Millasseau, P., Vays-seix, G. and Lathrop, M (1992). A second-generation linkage map of the human genome. Nature 359, 794-801.[Medline]

Wilson, A. K., Coulombe, P. A. and Fuchs, E (1992). The roles of K5 and K14 head, tail and R/KLLEGE domains in keratin filament assembly in vitro. J. Cell Biol 119, 401-414.[Abstract/Free Full Text]

Wong, P. C. and Cleveland, D. W (1990). Characterization of dominant and recessive assembly defective mutations in mouse neurofilament NF-M. J. Cell Biol 111, 1987-2003.[Abstract/Free Full Text]


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