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  1. 1.   Rare germline variants in known melanoma susceptibility genes in familial melanoma
  2. Goldstein, Alisa M.; Xiao, Yanzi; Sampson, Joshua; Zhu, Bin; Rotunno, Melissa; Bennett, Hunter; Wen, Yixuan; Jones, Kristine; Vogt, Aurelie; Burdette, Laurie; Luo, Wen; Zhu, Bin; Yeager, Meredith; Hicks, Belynda; Han, Jiali; De Vivo, Immaculata; Koutros, Stella; Andreotti, Gabriella; Beane-Freeman, Laura; Purdue, Mark; Freedman, Neal D.; Chanock, Stephen J.; Tucker, Margaret A.; Yang, Xiaohong R.
  3. Human Molecular Genetics. 2017, Dec 15; 26(24): 4886-4895.
  1. 2.   Histone yH2AX and Poly(ADP-Ribose) as Clinical Pharmacodynamic Biomarkers
  2. Redon, C. E.; Nakamura, A. J.; Zhang, Y. W.; Ji, J. P.; Bonner, W. M.; Kinders, R. J.; Parchment, R. E.; Doroshow, J. H.; Pommier, Y.
  3. Clinical Cancer Research. 2010, Sep; 16(18): 4532-4542.
  1. 3.   The DNA binding and 3'-end preferential activity of human tyrosyl-DNA phosphodiesterase
  2. Dexheimer, T. S.; Stephen, A. G.; Fivash, M. J.; Fisher, R. J.; Pommier, Y.
  3. Nucleic Acids Research. 2010, Apr; 38(7): 2444-2452.
  1. 4.   4-Pregnen-21-ol-3,20-dione-21-(4-bromobenzenesufonate) (NSC 88915) and Related Novel Steroid Derivatives as Tyrosyl-DNA Phosphodiesterase (Tdp1) Inhibitors
  2. Dexheimer, T. S.; Gediya, L. K.; Stephen, A. G.; Weidlich, I.; Antony, S.; March, C.; Interthal, H.; Nicklaus, M.; Fisher, R. J.; Njar, V. C.; Pommier, Y.
  3. Journal of Medicinal Chemistry. 2009 52(22): 7122-7131.
  1. 5.   Multiple autophosphorylation sites are dispensable for murine ATM activation in vivo
  2. Daniel, J. A.; Pellegrini, M.; Lee, J. H.; Paull, T. T.; Feigenbaum, L.; Nussenzweig, A.
  3. Journal of Cell Biology. 2008 183(5): 777-783.
  1. 6.   Phosphatidylinositol ether lipid analogues that inhibit AKT also independently activate the stress kinase, p38 alpha, through MKK3/6-independent and -dependent mechanisms
  2. Gills, J. J.; Castillo, S. S.; Zhang, C. Y.; Petukhov, P. A.; Memmott, R. M.; Hollingshead, M.; Warfel, N.; Han, J. H.; Kozikowski, A. P.; Dennis, P. A.
  3. Journal of Biological Chemistry. 2007, Sep; 282(37): 27020-27029.
  1. 7.   Distinct domains in Nbs1 regulate irradiation-induced checkpoints and apoptosis
  2. Difilippantonio, S.; Celeste, A.; Kruhlak, M.; Lee, Y.; Difilippantonio, M. J.; Feigenbaum, L.; Jackson, S. P.; McKinnon, P. J.; Nussenzweig, A.
  3. Journal of Experimental Medicine. 2007, May; 204(5): 1003-1011.
  1. 8.   Novel high-throughput electrochemiluminescent assay for identification of human tyrosyl-DNA phosphodiesterase (Tdp1) inhibitors and characterization of furamidine (NSC 305831) as an inhibitor of Tdp1
  2. Antony, S.; March, C.; Stephen, A. G.; Thibaut, L.; Agama, K. K.; Fisher, R. J.; Pommier, Y.
  3. Nucleic Acids Research. 2007 35(13): 4474-4484.
  1. 9.   Disruption of axo-glial junctions causes cytoskeletal disorganization and degeneration of Purkinje neuron axons
  2. Garcia-Fresco, G. P.; Sousa, A. D.; Pillai, A. M.; Moy, S. S.; Crawley, J. N.; Tessarollo, L.; Dupree, J. L.; Bhat, M. A.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2006, Mar; 103(13): 5137-5142.
  1. 10.   Progressive phenotype and nuclear accumulation of an amino-terminal cleavage fragment in a transgenic mouse model with inducible expression of full-length mutant huntingtin
  2. Tanaka, Y.; Igarashi, S.; Nakamura, M.; Gafni, J.; Torcassi, C.; Schilling, G.; Crippen, D.; Wood, J. D.; Sawa, A.; Jenkins, N. A.; Copeland, N. G.; Borchelt, D. R.; Ross, C. A.; Ellerby, L. M.
  3. Neurobiology of Disease. 2006, FEB; 21(2): 381-391.
  1. 11.   Role of Nbs1 in the activation of the Atm kinase revealed in humanized mouse models
  2. Difilippantonio, S.; Celeste, A.; Fernandez-Capetillo, O.; Chen, H. T.; San Martin, B. R.; Van Laethem, F.; Yang, Y. P.; Petukhova, G. V.; Eckhaus, M.; Feigenbaum, L.; Manova, K.; Kruhlak, M.; Camerini-Otero, R. D.; Sharan, S.; Nussenzweig, M.; Nussenzweig, A.
  3. Nature Cell Biology. 2005, JUL; 7(7): 675-U56.
  1. 12.   A mutant ataxin-3 putative-cleavage fragment in brains of Machado-Joseph disease patients and transgenic mice is cytotoxic above a critical concentration
  2. Goti, D.; Katzen, S. M.; Mez, J.; Kurtis, N.; Kiluk, J.; Ben-Haiem, L.; Jenkins, N. A.; Copeland, N. G.; Kakizuka, A.; Sharp, A. H.; Ross, C. A.; Mouton, P. R.; Colomer, V.
  3. Journal of Neuroscience. 2004, NOV 10; 24(45): 10266-10279.
  1. 13.   Animal model - Cerebellar ataxia, seizures, premature death, and cardiac abnormalities in mice with targeted disruption of the Cacna2d2 gene
  2. Ivanov, S. V.; Ward, J. M.; Tessarollo, L.; McAreavey, D.; Sachdev, V.; Fananapazir, L.; Banks, M. K.; Morris, N.; Djurickovic, D.; vor-Henneman, D. E.; Wei, M. H.; Alvord, G. W.; Gao, B. N.; Richardson, J. A.; Minna, J. D.; Rogawski, M. A.; Lerman, M. I.
  3. American Journal of Pathology. 2004, SEP; 165(3): 1007-1018.
  1. 14.   Unlocking the code of 14-3-3
  2. Dougherty, M. K.; Morrison, D. K.
  3. Journal of Cell Science. 2004 117(10): 1875-1884.
  1. 15.   Inhibition of growth by p205: A nuclear protein and putative tumor suppressor expressed during myeloid cell differentiation
  2. Dermott, J. M.; Gooya, J. M.; Asefa, B.; Weiler, S. R.; Smith, M.; Keller, J. R.
  3. Stem Cells. 2004 22(5): 832-848.
  1. 16.   A mutation in the canine BHD gene is associated with hereditary multifocal renal cystadenocarcinoma and nodular dermatofibrosis in the German Shepherd dog
  2. Lingaas, F.; Comstock, K. E.; Kirkness, E. F.; Sorensen, A.; Aarskaug, T.; Hitte, C.; Nickerson, M. L.; Moe, L.; Schmidt, L. S.; Thomas, R.; Breen, M.; Galibert, F.; Zbar, B.; Ostr, er
  3. Human Molecular Genetics. 2003 12(23): 3043-3053.
  1. 17.   ATM mutations and protein expression are not associated with familial B-CLL cases
  2. Ishibe, N.; Goldin, L. R.; Caporaso, N. E.; Sgambati, M. T.; Dean, M.; Albitar, M.; Manshouri, T.; Gerrard, B.; Marti, G. E.
  3. Leukemia Research. 2003 27(10): 973-975.
  1. 18.   Brca2 (XRCC11) deficiency results in radioresistant DNA synthesis and a higher frequency of spontaneous deletions
  2. Kraakman-van der Zwet, M.; Overkamp, W. J. I.; van Lange, R. E. E.; Essers, J.; van Duijn-Goedhart, A.; Wiggers, I.; Swaminathan, S.; van Buul, P. P. W.; Errami, A.; Tan, R. T. L.; Jaspers, N. G. J.; Sharan, S. K.; Kanaar, R.; Zdzienicka, M. A.
  3. Molecular and Cellular Biology. 2002 22(2): 669-679.
  1. 19.   Genomic instability in mice lacking histone H2AX
  2. Celeste, A.; Petersen, S.; Romanienko, P. J.; Fernandez-Capetillo, O.; Chen, H. T.; Sedelnikova, O. A.; Reina-San-Martin, B.; Coppola, V.; Meffre, E.; Difilippantonio, M. J.; Redon, C.; Pilch, D. R.; Olaru, A.; Eckhaus, M.; Camerini-Otero, R. D.; Tessarollo, L.; Livak, F.; Manova, K.; Bonner, W. M.; Nussenzweig, M. C.; Nussenzweig, A.
  3. Science. 2002 296(5569): 922-927.
  1. 20.   Distinct behavioral and neuropathological abnormalities in transgenic mouse models of HD and DRPLA
  2. Schilling, G.; Jinnah, H. A.; Gonzales, V.; Coonfield, M. L.; Kim, Y.; Wood, J. D.; Price, D. L.; Li, X. J.; Jenkins, N.; Copeland, N.; Moran, T.; Ross, C. A.; Borchelt, D. R.
  3. Neurobiology of Disease. 2001 8(3): 405-418.
  1. 21.   The p53 response to DNA damage in vivo is independent of DNA-dependent protein kinase
  2. Jhappan, C.; Yusufzai, T. M.; Anderson, S.; Anver, M. R.; Merlino, G.
  3. Molecular and Cellular Biology. 2000 20(11): 4075-4083.
  1. 22.   Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol))
  2. Mori, Y.; Wakamori, M.; Oda, S.; Fletcher, C. F.; Sekiguchi, N.; Mori, E.; Copeland, N. G.; Jenkins, N. A.; Matsushita, K.; Matsuyama, Z.; Imoto, K.
  3. Journal of Neuroscience. 2000 20(15): 5654-5662.
  1. 23.   Inactivation of p53 by human T-cell lymphotropic virus type 1 tax requires activation of the NF-kappa B pathway and is dependent on p53 phosphorylation
  2. Pise-Masison, C. A.; Mahieux, R.; Jiang, H.; Ashcroft, M.; Radonovich, M.; Duvall, J.; Guillerm, C.; Brady, J. N.
  3. Molecular and Cellular Biology. 2000 20(10): 3377-3386.
  1. 24.   Mice lacking the cell adhesion molecule Thy-1 fail to use socially transmitted cues to direct their choice of food
  2. Mayeux-Portas, V.; File, S. E.; Stewart, C. L.; Morris, R. J.
  3. Current Biology. 2000 10(2): 68-75.
  1. 25.   Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)
  2. Allikmets, R.; Raskind, W. H.; Hutchinson, A.; Schueck, N. D.; Dean, M.; Koeller, D. M.
  3. Human Molecular Genetics. 1999 8(5): 743-749.
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