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Huber, M., Scaletta, C., Benathan, M., Frenk, E., Greenhalgh, D. A., Rothnagel, J. A., Roop, D. R. and Hohl, D. (1994) Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations. Journal of Investigative Dermatology, 102 5: 691-694. doi:10.1111/1523-1747.ep12374270 64   12 Cited 10 times in Scopus10 3
Rothnagel, J. A., Fisher, M. P., Axtell, S. M., Pittelkow, M. R., Antonlamprecht, I., Huber, M., Hohl, D. and Roop, D. R. (1993) A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis. Human Molecular Genetics, 2 12: 2147-2150. doi:10.1093/hmg/2.12.2147 29   37 Cited 35 times in Scopus35 3
Arin, M. J., Longley, M. A., Kuster, W., Huber, M., Hohl, D., Rothnagel, J. A. and Roop, D. R. (1999) An aspatagine to threonine substitution in the 1A domain of keratin 1: A novel mutation that causes epidermolytic hyperkeratosis. Experimental Dermatology, 8 2: 124-127. doi:10.1111/j.1600-0625.1999.tb00359.x 53   11 0
Joh, G. Y., Traupe, H., Metze, D., Nashan, D., Huber, M., Hohl, D., Longley, M. A., Rothnagel, J. A. and Roop, D. R. (1997) A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. Journal of Investigative Dermatology, 108 3: 357-361. doi:10.1111/1523-1747.ep12286491 33   28 Cited 34 times in Scopus34 0
Arin, M. J., Longley, M. A., Anton-Lamprecht, I., Kurze, G., Huber, M., Hohl, D., Rothnagel, J. A. and Roop, D. R. (1999) A novel substitution in keratin 10 in epidermolytic hyperkeratosis. Journal of Investigative Dermatology, 112 4: 506-508. doi:10.1046/j.1523-1747.1999.00557.x 43   12 Cited 15 times in Scopus15 0
Mehrel, T., Hohl, D., Rothnagel, J. A., Longley, M. A., Bundman, D., Cheng, C., Lichti, U., Bisher, M. E., Steven, A. C., Steinert, P. M., Yuspa, S. H. and Roop, D. R. (1990) Identification of a major keratinocyte cell envelope protein, loricrin. Cell, 61 6: 1103-1112. doi:10.1016/0092-8674(90)90073-N 28   346 Cited 267 times in Scopus267 0
Takahashi, M., Rapley, E., Biggs, P. J., Lakhani, S. R., Cooke, D., Hansen, J., Blair, E., Hofmann, B., Siebert, R., Turner, G., Schrander-Stumpel, C., Beemer, F. A., van Vloten, W. A., Breuning, M. H., van den Ouweland, A., Halley, D., Delpech, B., Cleveland, M., Leigh, I., Chapman, P., Burn, J., Hohl, D., Gorog, J. P., Seal, S., Mangion, J., Warren, W., Bignell, G. and Stratton, M. R. (2000) Linkage and LOH studies in 19 cylindromatosis families show no evidence of genetic heterogeneity and refine the CYLD locus on chromosome 16q12-q13. Human Genetics, 106 1: 58-65. doi:10.1007/s004399900227 30   33 Cited 36 times in Scopus36 0
Rothnagel, J. A., Wojcik, S., Liefer, K. M., Dominey, A. M., Huber, M., Hohl, D. and Roop, D. R. (1995) Mutations in the 1A domain of keratin 9 in patients with epidermolytic palmoplantar keratoderma. Journal of Investigative Dermatology, 104 3: 430-433. doi:10.1111/1523-1747.ep12666018 21   48 Cited 55 times in Scopus55 0
Rothnagel, J. A., Traupe, H., Wojcik, S., Huber, M., Hohl, D., Pittelkow, M. R., Saeki, H., Ishibashi, Y. and Roop, D. R. (1994) Mutations in the Rod Domain of Keratin 2E in Patients with Ichthyosis Bullosa of Siemens. Nature Genetics, 7 4: 485-490. doi:10.1038/ng0894-485 34   108 Cited 104 times in Scopus104 3
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 5073: 1128-1130. doi:10.1126/science.257.5073.1128 21   291 Cited 218 times in Scopus218 3