|
Publications Related to IDbases by IBT Bioinformatics |
|
- databases for immunodeficiency-causing mutations | |||||||
|
||||||||
|
||||||||
| Thusberg J, Vihinen M. The structural basis of hyper IgM deficiency - CD40L mutations Protein Engineering Design and Selection 2007 Mar;20(3):133-41. Epub 2007 Feb 16. PubMed | |
| Thusberg J, Vihinen M. Bioinformatic analysis of protein structure-function relationships: case study of leukocyte elastase (ELA2) missense mutations Hum Mutat. 2006 Sep 19;27(12):1230-1243 PubMed | |
| Valiaho J, Smith CI, Vihinen M. BTKbase: the mutation database for X-Linked agammaglobulinemia. Hum Mutat. 2006 Sep 12;27(12):1209-1217 PubMed | |
| Piirila H., Valiaho J., Vihinen M. Immunodeficiency mutation databases (IDbases) Hum Mutat. 2006 Sep 26;27(12):1200-1208 PubMed | |
| Vihinen M Focus on immunogenetics: diagnosis, molecular genetics, mutations, and diseases. Hum Mutat. 2006 Sep 12;27(12):1161-1162. No abstract available. PubMed | |
| Väliaho, J., Riikonen, P., and Vihinen, M. Biomedical data description with XML. Distribution of immunodeficiency fact files - from Web to WAP BMC Med Inform Decis Mak. 2005 Jun 26;5:21. PubMed | |
| Lindvall, J. M., Blomberg, K. E. M., Väliaho, J., Vargas, L., Heinonen, J. E., Berglöf, A., Mohamed, A. J., Nore, B. F., Vihinen, M. and Smith, C. I. E. Bruton's tyrosine kinase: cell biology, sequence conservation, mutation spectrum, siRNA modifications, and expression profiling. Immunol Rev. 2005 Feb;203:200-15. PubMed | |
| Okoh, M. P., Kainulainen, L., Heiskanen, K. Isa, M. N., Varming, K., Ruuskanen, O. and Vihinen, M. Novel insertions of Bruton tyrosine kinase in patients with X-linked agammaglobulinemia Hum Mutat. 2002 Dec;20(6):480-1. PubMed | |
| Notarangelo, L. D., Mella, P., Jones, A., de Saint Basile, G., Savoldi, G., Cranston, T., Vihinen, M. and Schumacher R. F. Mutations in severe combined immune deficiency (SCID) due to JAK3 deficiency Hum Mutat. 2001 Oct;18(4):255-63. PubMed | |
| Riikonen, P., Boberg, J., Salakoski, T. and Vihinen, M. BioWAP, mobile bioinformatics Bioinformatics. 2001 Sep;17(9):855-6. PubMed | |
| Sobacchi, C., Frattini, A., Orchard, P., Porras, O., Tezcan, I., Andolina, M., Babul-Hirji, R., Baric, I., Canham, Chitayat, Dupuis, S., Ellis, I., Etzioni, A., Fasth, A., Fisher, A., Gerritsen,B., Gulino, V., Horst, Horwitz, E., Klamroth, V., Lanino, E., Mirolo, M., Musio, A., Matthijs, G., Nonomaya, S., Notarangelo, L., Ochs, H., Superti-Furga, A., Väliaho, J., van Hove J., Vihinen, M., Vujic, D., Vezzoni, P. and Villa A. The mutational spectrum of human malignant autosomal recessive osteopetrosis Hum Mol Genet. 2001 Aug 15;10(17):1767-73. PubMed | |
| Villa, A., Sobacchi, C., Notarangelo, L. D., Bozzi, F., Abinun, M., Abrahamsen, T. G., Arkwright, P. D., Baniyash, M., Brooks, E. G., Conley, M. E., Cortes, P., Duse, M., Fasth, A., Filipovich, A. M., Infante, A. J., Jones, A. Mazzolari, E., Muller, S. M., Pasic, S., Rechavi, G., Sacco, M. G., Santagata, S., Schroeder, M. L. Seger, R., Strina, D., Ugazio, A., Väliaho, J., Vihinen, M., Vogler, L. B., Ochs, H., Vezzoni, P., Friedrich, W., and Schwarz, K. V(D)J recombination defects in lymphocytes due to RAG mutations: severe immunodeficiency with a spectrum of clinical presentations Blood. 2001 Jan 1;97(1):81-8. PubMed | |
| Vihinen, M., Arredondo-Vega, F. X., Casanova, J.-L., Etzioni, A., Giliani, S., Hammarström, L., Heyworth, P. G., Hershfield, M. S., Hsu, A. P., Lappalainen, I., Lähdesmäki, A., Notarangelo, L. D., Puck, J. F., Reith, W., Roos, D., Schumacher, R. F., Schwarz, K., Vezzoni. P., Villa, A., Väliaho, J., and Smith, C. I. E. Primary immunodeficiency mutation databases Adv Genet. 2001;43:103-88. PubMed | |
| Väliaho, J., Riikonen, P., and Vihinen, M. Novel immunodeficiency data servers Immunol Rev. 2000 Dec;178:177-85. PubMed | |
| Rong, S.-B. and Vihinen, M. Structural basis of Wiskott-Aldrich syndrome (WAS) causing mutations in the WH1 domain J Mol Med. 2000;78(9):530-7. PubMed | |
| Rong, S.-B., Väliaho, J., and Vihinen, M. Structural basis of Bloom syndrome (BS) causing mutations in the BLM helicase domain Mol Med. 2000 Mar;6(3):155-64. PubMed | |
| Vihinen, M., Villa, A., Mella, P., Schumacher, R. F., Savoldi, G., O’Shea, J. J., Candotti, F., and Notarangelo, L. D. Molecular modeling of the Jak3 kinase domains and structural basis for severe combined immunodeficiency Clin Immunol. 2000 Aug;96(2):108-18. PubMed | |
| Lappalainen, I., Giliani, S., Franceschini, R., Bonnefoy, J.-Y., Duckett, C., Notarangelo, L. D., and Vihinen, M. Structural basis for SH2D1A mutations in X-linked lymphoproliferative disease (XLP) Biochem Biophys Res Commun. 2000 Mar 5;269(1):124-30. PubMed | |
| Scriver, C.R., Nowacki, P. M., Lehväslaiho, H., Antonarakis, S., Beroud, C., Brown, A., Cooper, D. N., Cotton, R. G. H., den Dunnen, J. T., Fujiwara, M., Krawczak, M., Reeve, M. P., Shimizu, N., Sicotte, H., Tyfield, L., van Ommen, G. J., Vihinen, M., and Wjst, M. Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress Hum Mutat. 2000;15(1):13-5. PubMed | |
| Stenberg, K. A. E., Riikonen, P. T., and Vihinen, M. KinMutBase, a database of human disease-causing protein kinase mutations Nucleic Acids Res. 2000 Jan 1;28(1):369-71. PubMed | |
| Riikonen, P. and Vihinen, M. MUTbase: maintenance and analysis of distributed mutation databases Bioinformatics. 1999 Oct;15(10):852-9. PubMed | |
| Vihinen, M., Kwan, S.-P., Lester, T., Ochs, H. D., Resnick, I., Väliaho, J., and Smith C. I. E. Mutation of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia Hum Mutat. 1999;13(4):280-5. PubMed | |
| Stenberg, K. A. E., Riikonen, P. T., and Vihinen, M. KinMutBase - a database of human disease-causing protein kinase mutations Nucleic Acids Res. 1999 Jan 1;27(1):362-4. PubMed | |
| Vihinen, M., Lehväslaiho, H., and Cotton, R. G. H. Immunodeficiency mutation databases, in Primary Immunodeficiency Diseases A Molecular and Genetic Approach (Ochs, H. D., Smith, C. I. E., and Puck, J., eds) 1999;pp. 443-447. PubMed | |
| Antonarakis, S. E., Ashburner, M., Auerbach, A. D., Beaudet, A. L., Beckmann, J. S., Beutler, E., Cooper, D. N., Cotton, R. G. H., den Dunnen, J. T., Desnick, R. J., Eng, C., Fasman, K. H., Goldman, D., Hayashi, K., Hutchinson, F., Kazazian, H. H., Keen, J., King, M.-C., Lehväslaiho, H., McAlpine, P. J., McKusick, V., Motulski, A. G., Povey, S., Schorderet, D., Scriver, C. R., Shows, T. B., Superti-Furga, A., Tay, A. H. N., Tsui, L.-C., Valle, D. and Vihinen, M. Recommendations for a nomenclature system for human gene mutations Hum. Mutat. 1998;11, 1-3. PubMed | |
| Vihinen, M., Brandau, O., Brandén, L., Kwan, S.-P., Lappalainen, I., Lester, T., Noordzij, J. G., Ochs, H. D., Ollila, J., Pienaar, S. M., Riikonen, P., Saha, B. K., and Smith, C. I. E. BTKbase, mutation database for X-linked agammaglobulinemia (XLA) Nucleic Acids Res. 1998 Jan 1;26, 242-247. PubMed | |
| Lappalainen, I., Ollila, J., Smith, C. I. E., and Vihinen, M. Registries of immunodeficiency patients and mutations Hum. Mutat. 1997;10, 261-267. PubMed | |
| Vihinen, M., Belohradsky, B. H., Haire, R. N., Holinski-Feder, E., Kwan, S.-P., Lappalainen, I., Lehväslaiho, H., Lester, T., Meindl, A., Ochs, H. D., Ollila, J., Vorechovský, I., Weiss, M., and Smith, C. I. E. BTKbase, mutation database for X-linked agammaglobulinemia Nucleic Acids Res. 1997 Jan 1;25, 166-171. PubMed | |
| Notarangelo L. D., Peitsch, M. C., Abrahamsen, T. G., Bachelot, C., Bordigoni, P.,Cant, A. J., Chapel, H., Clementi, M., Deacock, S., de Saint Basile, G., Duse, M., Espanol, T., Etzioni, A., Fasth, A., Fischer, A., Giliani, S., Gomez, L., Hammarström, L., Jones, A., Kanariou, M., Kinnon, C., Klemola, T., Kroczek, R. A., Levy, J., Matamoros, N., Monafo, V., Paolucci, P., Reznick, I., Sanal, O., Smith, C. I. E., Thompson, R. A., Tovo, P., Villa, A., Vihinen, M., Vossen, J., Zegers, B. J. M., Ochs, H. D., Conley, M. E., Iseki, M., Ramesh, N., Shimadzu, M., and Saiki, O. CD40Lbase: a database of CD40L gene mutations causing X-linked hyper-IgM syndrome Immunol. Today 1996 Nov;17, 511-516. PubMed | |
| Vihinen, M., Brooimans, R. A., Kwan, S.-P., Lehväslaiho, H., Litman, G. W., Resnick, I., Ochs, H. D., Schwaber, J. H., Vorechovský, I, and Smith, C. I. E. BTKbase: XLA-mutation registry Immunol. Today 1996 Nov;17, 502-506. PubMed | |
| Smith, C. I. E. and Vihinen, M. Immunodeficiency mutation databases - a new research tool Immunol. Today 1996 Nov;17, 495-496. PubMed | |
| Vihinen, M., Iwata, T., Kinnon, C., Kwan, S.-P., Ochs, H. D., Vorechovský, I, and Smith, C. I. E. BTKbase, mutation database for X-linked agammaglobulinemia Nucleic Acids Res. 1996 Jan 1;24, 160-165. PubMed | |
| Vihinen, M., Cooper, M. D., de Saint Basile, G., Fischer, A., Good, R. A.,Hendriks, R. W., Kinnon, C., Kwan, S.-P., Litman, G. W., Notarangelo, L. D., Ochs, H. D., Rosen, F. S., Vetrie, D., Webster, A. D. B., Zegers, B. J. M., and Smith, C. I. E. BTKbase: a database of XLA causing mutations Immunol. Today 1995 Oct;16, 460-465. PubMed | |