The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

Proceedings of the National Academy of Sciences of the United States of America

Volumn 93, Issue 17, 1996, Pages 9079-9084

  Uttam, Jai ^a   Hutton, Elizabeth ^a   Coulombe, Pierre A ^b   Anton Lamprecht, Ingrun ^d   Yu, Qian Chun ^a   Gedde Dahl Jr , Tobias ^c   Fine, Jo David ^e   Fuchs, Elaine ^a  

^a UNIVERSITY OF CHICAGO   (United States)

^b JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF OSLO   (Norway)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

cytoskeleton; genetic disease; intermediate filament function; keratin filaments

Indexed keywords

KERATIN;

ARTICLE; CHROMOSOME 21Q; CHROMOSOME ABERRATION; EPIDERMOLYSIS BULLOSA SIMPLEX; GENE MUTATION; GENETIC ANALYSIS; GENETIC DISORDER; GENETIC PREDISPOSITION; HUMAN; HUMAN CELL; HYPOTHESIS; MECHANICAL STRESS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL;

ALLELES; BASE SEQUENCE; BIOPSY; EPIDERMOLYSIS BULLOSA SIMPLEX; FEMALE; HUMANS; KERATINS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POINT MUTATION; POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS, DNA; SKIN PIGMENTATION;

EID: 0029810901     PISSN: 00278424     EISSN: None     Source Type: Journal    
DOI: 10.1073/pnas.93.17.9079     Document Type: Article

References (49)

1. Anton-Lamprecht, I. (1983) J. Invest. Dermatol. 81, 149s-156s.
2. Fine, J.-D., Bauer, E. A., Briggaman, R. A., Carter, D.-M., Eady, R. A. J., Esterly, N. B., Holbrook, K. A., Hurwitz, S., Johnson, L., Lin, A., Pearson, R. & Sybert, V. P. (1991) Am. Acad. Dermatol. 24, 119-135.
3. Gedde-Dahl, T., Jr., & Anton-Lamprecht, I. (1996) in Principles and Practice of Medical Genetics, eds. Emery, A. E. H. & Rimoin, D. L. (Churchill Livingstone, Edinburgh), 3rd Ed., in press.
4. Fischer, T. & Gedde-Dahl, T. (1979) Clin. Genet 15, 228-238.
5. Vassar, R., Coulombe, P. A., Degenstein, L., Albers, K. & Fuchs, E. (1991) Cell 64, 365-380.
6. Fuchs, E. & Green, H. (1980) Cell 19, 1033-1042.
7. Coulombe, P. A., Hutton, M. E., Letai, A., Hebert, A., Paller, A. S. & Fuchs, E. (1991) Cell 66, 1301-1311.
8. Bonifas, J. M., Rothman, A. L. & Epstein, E. H. (1991) Science 254, 1202-1205.
9. Lane, E. B., Rugg, E. L., Navsaria, H., Leigh, I. M., Heagerty, A. H. M., Ishida-Yamamoto, A. & Eady, R. A. J. (1992) Nature (London) 356, 244-246.
10. Chan, Y.-M., Yu, Q.-C, Fine, J.-D. & Fuchs, E. (1993) Proc. Natl. Acad. Sci. USA 90, 7414-7418.
11. Chan, Y.-M., Yu, Q.-C., Christiano, A., Uitto, J., Kucherlapati, R. S., LeBlanc-Straceski, J. & Fuchs, E. (1994) J. Cell Sci. 107, 765-774.
12. Rugg, E. L., Morley, S. M., Smith, F. J. D., Boxer, M., Tidman, M. J., Navsaria, H., Leigh, I. M. & Lane, E. B. (1993) Nat. Genet. 5, 294-300.
13. Letai, A., Coulombe, P. & Fuchs, E. (1992) J. Cell Biol 116, 1181-1195.
14. Letai, A., Coulombe, P. A., McCormick, M. B., Yu, Q.-C, Hutton, E. & Fuchs, E. (1993) Proc. Natl. Acad. Sci. USA 90, 3197-3201
15. Hanukoglu, I. & Fuchs, E. (1982) Cell 31, 243-252.
16. Hanukoglu, I. & Fuchs, E. (1983) Cell 33, 915-924.
17. Steinert, P. M. & Parry, D. A. D. (1993) J. Biol. Chem. 268, 2878-2887.
18. Chan, Y. M., Cheng, J., Gedde-Dahl, T., Niemi, K.-M. & Fuchs, E. (1996) J. Invest. Dermatol. 106, 327-334.
19. Stephens, K., Sybert, V. P., Wijsman, E. M., Ehrlich, P. & Spencer, A. (1993) J. Invest. Dermatol. 101, 240-243.
20. Chen, H., Bonifas, J. M., Matsumura, K., Ikeda, S. & Leyden, W. A. (1995) J. Invest. Dermatol. 105, 629-632.
21. Dong, W., Ryynanen, M. & Uitto, J. (1993) Hum. Mutat. 2, 94-102.
22. Humphries, M. M., Shells, D. M., Jordan, S. A., Farrar, G. J., Kuman-Singh, R. & Humphries, P. (1993) Hum. Mol. Genet 1, 453 (abstr.).
23. Ehrlich, P., Sybert, V. P., Spencer, A. & Stephens, K. (1995);. J. Invest. Dermatol. 104, 877-879.
24. Heins, S., Wong, P. C., Muller, S., Goldie, K., Cleveland, D. W. & Aebi, U. (1993) J. Cell Biol. 123, 1517-1533.
25. Fuchs, E. (1994) J. Cell Biol. 125, 511-516.
26. Steinert, P. M., Marekov, L. N., Fraser, R. D. B. & Parry, D. A. D. (1993) J. Mol. Biol. 230, 436-452.
27. Hatzfeld, M. & Weber, K. (1992) J Cell Biol. 116, 157-166.
28. Chan, Y.-M., Anton-Lamprecht, I., Yu, Q.-C., Jaeckel, A., Zabe Ernst, J.-P. & Fuchs, E. (1994) Genes Dev. 8, 2574-2587.
29. Wilson, A. K., Coulombe, P. A. & Fuchs, E. (1992) J. Cell Biol. 119, 401-414.
30. Bruckner-Tuderman, L., Vogel, A., Ruegger, S., Odermatt, B., Tonz, O. & Schnyder, U. W. (1989) J. Am. Acad. Dermatol. 21, 425-432.
31. Coleman, R., Harper, J. & Lake, B. (1993) Br. J. Dermatol. 128, 679-685.
32. Combemale, P. & Kanitakis, J. (1994) Dermatology 189, 173-178.
33. Gedde-Dahl, T., Jr., Anton-Lamprecht, I. & Fischer, T. (1981) J. Cutaneous Pathol. 8, 161 (abstr.).
34. Fuchs, E. & Coulombe, P. A. (1992) Cell 69, 899-902.
35. Eckert, R. L. & Rorke, E. A. (1988) DNA 7, 337-345.
36. Marchuk, D., McCrohon, S. & Fuchs, E. (1985) Proc. Natl. Acad. Sci. USA 82, 1609-1613.
37. Lersch, R., Stellmach, V., Stocks, C., Giudice, G. & Fuchs, E. (1989) Mol. Cell. Biol. 9, 3685-3697.
38. Coulombe, P. A. & Fuchs, E. (1990) J. Cell Biol. 111, 153-169.
39. Anton-Lamprecht, I. (1994) J. Invest. Dermatol. 103, 6s-12s.
40. Fuchs, E., Esteves, R. A. & Coulombe, P. A. (1992) Proc. Natl. Acad. Sci. USA 89, 6906-6910.
41. Korge, B. P., Gan, S. Q., McBride, O. W., Mischke, D. & Steinert, P. M. (1992) Proc. Natl. Acad. Sci. USA 89, 910-914.
42. Mischke, D. & Wild, G. (1987) J. Invest. Dermatol. 88, 191-197.
43. Coulombe, P., Chan, Y.-M., Albers, K. & Fuchs, E. (1990) J. Cell Biol. 111, 3049-3064.
44. Rugg, E. L., McLean, W. H. I., Lane, E. B., Pitera, R., McMillan. J. R., Dopping-Hepenstal, P. J. C., Navsaria, H.A., Leigh, I. M. & Eady, R. A. J. (1994) Genes Dev. 8, 2563-2573.
45. Hoare, S., Perret, C, Nelson, H., Peachery, R. D. G., Rugg, E. & Heagerty, A. H. M. (1994) Br. J. Dermatol. 131, Suppl. 44, 3 (abstr.).
46. Takahashi, K., Paladini, R. & Coulombe, P. A. (1996) J. Biol. Chem. 270, 18581-18592.
47. Steinert, P. M., Rice, R., Roop, D. R. & Trus, A. C. S. (1983) Nature (London) 302, 794-800.
48. Kouklis, P., Hutton, M.E. & Fuchs, E. (1994) J. Cell Biol. 127, 1049-1060.
49. Lathrop, G. M., Lalouel, J.-M., Julier, C. & Ott, J. (1985) Am. J. Hum. Genet. 37, 482-498.