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Nature Genetics

  1. Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

    Rugg, E. L., Morley, S. M., Smith, F. J., Boxer, M., Tidman, M. J., Navsaria, H., Leigh, I. M. & Lane, E. B. Nov 1993 In : Nature Genetics. 5, 3, p. 294-300 7 p.

    Research output: Contribution to journalArticle

  2. Keratin 16 and keratin 17 mutations cause pachyonychia congenita

    McLean, W. H. I., Rugg, E. L., Lunny, D. P., Morley, S. M., Lane, E. B., Swensson, O., Dopping-Hepenstal, P. J. C., Griffiths, W. A. D., Eady, R. A. J., Higgins, C., Navsaria, H. A., Leigh, I. M., Strachan, T., Kunkeler, L. & Munro, C. S. Mar 1995 In : Nature Genetics. 9, 3, p. 273-278 6 p.

    Research output: Contribution to journalArticle

  3. Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

    Smith, F. J. D., Eady, R. A. J., Leigh, I. M., McMillan, J. R., Rugg, E. L., Kelsell, D. P., Bryant, S. P., Spurr, N. K., Geddes, J. F., Kirtschig, G., Milana, G., De Bono, A. G., Owaribe, K., Wiche, G., Pulkkinen, L., Uitto, J., McLean, W. H. I. & Lane, E. B. 1996 In : Nature Genetics. 13, 4, p. 450-457 8 p.

    Research output: Contribution to journalArticle

  4. Mass spectrometry and EST-database searching allows characterization of the multi-protein spliceosome complex

    Neubauer, G., King, A., Rappsilber, J., Calvio, C., Watson, M., Ajuh, P., Sleeman, J., Lamond, A. & Mann, M. Sep 1998 In : Nature Genetics. 20, 1, p. 46-50 5 p.

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  5. MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation

    Trockenbacher, A., Suckow, V., Foerster, J., Winter, J., Krauss, S., Ropers, H-H., Schneider, R. & Schweiger, S. 2001 In : Nature Genetics. 29, 3, p. 287-294 8 p.

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  6. Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer

    Leigh, I. & 31 others Multiple Leiomyoma Consortium, Tomlinson, I. P. M., Alam, N. A., Rowan, A. J., Barclay, E., Jaeger, E. E. M., Kelsell, D., Gorman, P., Lamlum, H., Rahman, S., Roylance, R. R., Olpin, S., Bevan, S., Barker, K., Hearle, N., Houlston, R. S., Kiuru, M., Lehtonen, R., Karhu, A., Vilkki, S., Laiho, P., Eklund, C., Vierimaa, O., Aittomaki, K., Hietala, M., Sistonen, P., Paetau, A., Salovaara, R., Herva, R., Launonen, V. & Aaltonen, L. A. 2002 In : Nature Genetics. 30, 4, p. 406-410 5 p.

    Research output: Contribution to journalArticle

  7. Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation

    Kalscheuer, V. M. , Freude, K. , Musante, L. , Jensen, L. R. , Yntema, H. G. , Gécz, J. , Sefiani, A. , Hoffmann, K. , Moser, B. , Haas, S. , Gurok, U. , Haesler, S. , Beatriz, A. , Arpik, N. , Tzschach, A. , Hartmann, N. , Roloff, T-C. , Shoichet, S. , Hagens, O. , Tao, J. & 13 others van Bokhoven, H., Turner, G., Chelly, J., Moraine, C., Fryns, J-P., Nuber, U., Hoeltzenbein, M., Scharff, C., Scherthan, H., Lenzner, S., Hamel, B. C. J., Schweiger, S. & Ropers, H-H. 2003 In : Nature Genetics. 35, 4, p. 313-315 3 p.

    Research output: Contribution to journalArticle

  8. Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris

    Smith, F. J. D., Irvine, A. D., Terron-Kwiatkowski, A., Sandilands, A., Campbell, L. E., Zhao, Y., Liao, H., Evans, A. T., Goudie, D. R., Lewis-Jones, S., Arseculeratne, G., Munro, C. S., Sergeant, A., O'Regan, G., Bale, S. J., Compton, J. G., DiGiovanna, J. J., Presland, R. B., Fleckman, P. & McLean, W. H. I. 2006 In : Nature Genetics. 38, 3, p. 337-342 6 p.

    Research output: Contribution to journalArticle

  9. Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

    Palmer, C. N. A. , Irvine, A. D. , Terron-Kwiatkowski, A. , Zhao, Y. , Liao, H. , Lee, S. P. , Goudie, D. R. , Sandilands, A. , Campbell, L. E. , Smith, F. J. D. , O'Regan, G. M. , Watson, R. M. , Cecil, J. E. , Bale, S. J. , Compton, J. G. , DiGiovanna, J. J. , Fleckman, P. , Lewis-Jones, S. , Arseculeratne, G. , Sergeant, A. & 7 others Munro, C. S., El Houate, B., McElreavey, K., Halkjaer, L. B., Bisgaard, H., Mukhopadhyay, S. & McLean, W. H. I. Apr 2006 In : Nature Genetics. 38, 4, p. 441-446 6 p.

    Research output: Contribution to journalArticle

  10. Comprehensive analysis of the gene encoding filaggrin uncovers prevalent and rare mutations in ichthyosis vulgaris and atopic eczema

    Sandilands, A. , Terron-Kwiatkowski, A. , Hull, P. R. , O'Regan, G. M. , Clayton, T. H. , Watson, R. M. , Carrick, T. , Evans, A. T. , Liao, H. , Zhao, Y. , Campbell, L. E. , Schmuth, M. , Gruber, R. , Janecke, A. R. , Elias, P. M. , van Steensel, M. A. M. , Nagtzaam, I. , van Geel, M. , Steijlen, P. M. , Munro, C. S. & 5 others Bradley, D. G., Palmer, C. N. A., Smith, F. J. D., McLean, W. H. I. & Irvine, A. D. 2007 In : Nature Genetics. 39, 5, p. 650-654 5 p.

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