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MeSH Review

Ataxia Telangiectasia

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Disease relevance of Ataxia Telangiectasia


Psychiatry related information on Ataxia Telangiectasia


High impact information on Ataxia Telangiectasia


Chemical compound and disease context of Ataxia Telangiectasia


Biological context of Ataxia Telangiectasia


Anatomical context of Ataxia Telangiectasia


Gene context of Ataxia Telangiectasia


Analytical, diagnostic and therapeutic context of Ataxia Telangiectasia


  1. atm and p53 cooperate in apoptosis and suppression of tumorigenesis, but not in resistance to acute radiation toxicity. Westphal, C.H., Rowan, S., Schmaltz, C., Elson, A., Fisher, D.E., Leder, P. Nat. Genet. (1997) [Pubmed]
  2. Positional cloning of the gene for Nijmegen breakage syndrome. Matsuura, S., Tauchi, H., Nakamura, A., Kondo, N., Sakamoto, S., Endo, S., Smeets, D., Solder, B., Belohradsky, B.H., Der Kaloustian, V.M., Oshimura, M., Isomura, M., Nakamura, Y., Komatsu, K. Nat. Genet. (1998) [Pubmed]
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  4. Nbs1 is required for ATR-dependent phosphorylation events. Stiff, T., Reis, C., Alderton, G.K., Woodbine, L., O'Driscoll, M., Jeggo, P.A. EMBO J. (2005) [Pubmed]
  5. Ataxia-telangiectasia: identification and detection of founder-effect mutations in the ATM gene in ethnic populations. Telatar, M., Teraoka, S., Wang, Z., Chun, H.H., Liang, T., Castellvi-Bel, S., Udar, N., Borresen-Dale, A.L., Chessa, L., Bernatowska-Matuszkiewicz, E., Porras, O., Watanabe, M., Junker, A., Concannon, P., Gatti, R.A. Am. J. Hum. Genet. (1998) [Pubmed]
  6. New autosomal recessive cerebellar ataxias with oculomotor apraxia. Le Ber, I., Brice, A., Dürr, A. Current neurology and neuroscience reports. (2005) [Pubmed]
  7. The mismatch repair system is required for S-phase checkpoint activation. Brown, K.D., Rathi, A., Kamath, R., Beardsley, D.I., Zhan, Q., Mannino, J.L., Baskaran, R. Nat. Genet. (2003) [Pubmed]
  8. A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. O'Driscoll, M., Ruiz-Perez, V.L., Woods, C.G., Jeggo, P.A., Goodship, J.A. Nat. Genet. (2003) [Pubmed]
  9. Mice heterozygous for mutation in Atm, the gene involved in ataxia-telangiectasia, have heightened susceptibility to cancer. Spring, K., Ahangari, F., Scott, S.P., Waring, P., Purdie, D.M., Chen, P.C., Hourigan, K., Ramsay, J., McKinnon, P.J., Swift, M., Lavin, M.F. Nat. Genet. (2002) [Pubmed]
  10. A mammalian cell cycle checkpoint pathway utilizing p53 and GADD45 is defective in ataxia-telangiectasia. Kastan, M.B., Zhan, Q., el-Deiry, W.S., Carrier, F., Jacks, T., Walsh, W.V., Plunkett, B.S., Vogelstein, B., Fornace, A.J. Cell (1992) [Pubmed]
  11. Relationship of the ataxia-telangiectasia protein ATM to phosphoinositide 3-kinase. Lavin, M.F., Khanna, K.K., Beamish, H., Spring, K., Watters, D., Shiloh, Y. Trends Biochem. Sci. (1995) [Pubmed]
  12. Thymopoietin pentapeptide treatment of primary immunodeficiencies. Aiuti, F., Businco, L., Fiorilli, M., Galli, E., Quinti, I., Rossi, P., Seminara, R., Goldstein, G. Lancet (1983) [Pubmed]
  13. Cancer chemoprevention by the antioxidant tempol in Atm-deficient mice. Schubert, R., Erker, L., Barlow, C., Yakushiji, H., Larson, D., Russo, A., Mitchell, J.B., Wynshaw-Boris, A. Hum. Mol. Genet. (2004) [Pubmed]
  14. Re: Impaired glutathione biosynthesis in cultured ataxia-telangiectasia cells. Dean, S.W., Sykes, H.R., Cole, J., Jaspers, N.G., Linssen, P., Verkerk, A. Cancer Res. (1988) [Pubmed]
  15. Inhibition of ATM and ATR kinase activities by the radiosensitizing agent, caffeine. Sarkaria, J.N., Busby, E.C., Tibbetts, R.S., Roos, P., Taya, Y., Karnitz, L.M., Abraham, R.T. Cancer Res. (1999) [Pubmed]
  16. Requirement of the MRN complex for ATM activation by DNA damage. Uziel, T., Lerenthal, Y., Moyal, L., Andegeko, Y., Mittelman, L., Shiloh, Y. EMBO J. (2003) [Pubmed]
  17. Direct requirement for Xmus101 in ATR-mediated phosphorylation of Claspin bound Chk1 during checkpoint signaling. Yan, S., Lindsay, H.D., Michael, W.M. J. Cell Biol. (2006) [Pubmed]
  18. ATFresno: a phenotype linking ataxia-telangiectasia with the Nijmegen breakage syndrome. Curry, C.J., O'Lague, P., Tsai, J., Hutchison, H.T., Jaspers, N.G., Wara, D., Gatti, R.A., Hutchinson, H.T. Am. J. Hum. Genet. (1989) [Pubmed]
  19. Simultaneous localization of cosmids and chromosome R-banding by fluorescence microscopy: application to regional mapping of human chromosome 11. Cherif, D., Julier, C., Delattre, O., Derré, J., Lathrop, G.M., Berger, R. Proc. Natl. Acad. Sci. U.S.A. (1990) [Pubmed]
  20. The ataxia-telangiectasia gene product, a constitutively expressed nuclear protein that is not up-regulated following genome damage. Brown, K.D., Ziv, Y., Sadanandan, S.N., Chessa, L., Collins, F.S., Shiloh, Y., Tagle, D.A. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  21. Global analysis of ATM polymorphism reveals significant functional constraint. Thorstenson, Y.R., Shen, P., Tusher, V.G., Wayne, T.L., Davis, R.W., Chu, G., Oefner, P.J. Am. J. Hum. Genet. (2001) [Pubmed]
  22. Degeneration of neurons, synapses, and neuropil and glial activation in a murine Atm knockout model of ataxia-telangiectasia. Kuljis, R.O., Xu, Y., Aguila, M.C., Baltimore, D. Proc. Natl. Acad. Sci. U.S.A. (1997) [Pubmed]
  23. hMre11 and hRad50 nuclear foci are induced during the normal cellular response to DNA double-strand breaks. Maser, R.S., Monsen, K.J., Nelms, B.E., Petrini, J.H. Mol. Cell. Biol. (1997) [Pubmed]
  24. Hypersensitivity to cell killing and faulty repair of 1-beta-D-arabinofuranosylcytosine-detectable sites in human (ataxia-telangiectasia) fibroblasts treated with 4-nitroquinoline 1-oxide. Mirzayans, R., Smith, B.P., Paterson, M.C. Cancer Res. (1989) [Pubmed]
  25. TCL-1, MTCP-1 and TML-1 gene expression profile in non-leukemic clonal proliferations associated with ataxia-telangiectasia. Chun, H.H., Castellví-Bel, S., Wang, Z., Nagourney, R.A., Plaeger, S., Becker-Catania, S.G., Naeim, F., Sparkes, R.S., Gatti, R.A. Int. J. Cancer (2002) [Pubmed]
  26. Functional link between ataxia-telangiectasia and Nijmegen breakage syndrome gene products. Zhao, S., Weng, Y.C., Yuan, S.S., Lin, Y.T., Hsu, H.C., Lin, S.C., Gerbino, E., Song, M.H., Zdzienicka, M.Z., Gatti, R.A., Shay, J.W., Ziv, Y., Shiloh, Y., Lee, E.Y. Nature (2000) [Pubmed]
  27. The ATM homologue MEC1 is required for phosphorylation of replication protein A in yeast. Brush, G.S., Morrow, D.M., Hieter, P., Kelly, T.J. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  28. Functional link between BLM defective in Bloom's syndrome and the ataxia-telangiectasia-mutated protein, ATM. Beamish, H., Kedar, P., Kaneko, H., Chen, P., Fukao, T., Peng, C., Beresten, S., Gueven, N., Purdie, D., Lees-Miller, S., Ellis, N., Kondo, N., Lavin, M.F. J. Biol. Chem. (2002) [Pubmed]
  29. Comparative genome mapping of the ataxia-telangiectasia region in mouse, rat, and Syrian hamster. Matsuda, Y., Imai, T., Shiomi, T., Saito, T., Yamauchi, M., Fukao, T., Akao, Y., Seki, N., Ito, H., Hori, T.A. Genomics (1996) [Pubmed]
  30. Lack of mutations in the P53 gene exons 5 to 8 in ataxia-telangiectasia. Jonveaux, P., Berger, R. Cancer Genet. Cytogenet. (1993) [Pubmed]
  31. Cancer in patients with ataxia-telangiectasia and in their relatives in the nordic countries. Olsen, J.H., Hahnemann, J.M., Børresen-Dale, A.L., Brøndum-Nielsen, K., Hammarström, L., Kleinerman, R., Kääriäinen, H., Lönnqvist, T., Sankila, R., Seersholm, N., Tretli, S., Yuen, J., Boice, J.D., Tucker, M. J. Natl. Cancer Inst. (2001) [Pubmed]
  32. Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Elson, A., Wang, Y., Daugherty, C.J., Morton, C.C., Zhou, F., Campos-Torres, J., Leder, P. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  33. Atm expression patterns suggest a contribution from the peripheral nervous system to the phenotype of ataxia-telangiectasia. Soares, H.D., Morgan, J.I., McKinnon, P.J. Neuroscience (1998) [Pubmed]
  34. ATM sequence variants are predictive of adverse radiotherapy response among patients treated for prostate cancer. Cesaretti, J.A., Stock, R.G., Lehrer, S., Atencio, D.A., Bernstein, J.L., Stone, N.N., Wallenstein, S., Green, S., Loeb, K., Kollmeier, M., Smith, M., Rosenstein, B.S. Int. J. Radiat. Oncol. Biol. Phys. (2005) [Pubmed]
  35. Studies on lymphocyte cell surface in ataxia-telangiectasia. Ozer, N.K., Ciliv, G., Berkel, A.I., Sanal, O., Yeğin, O., Ersoy, F. Clin. Exp. Immunol. (1985) [Pubmed]
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