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  1. 1.   Crystal structures of beta-1,4-galactosyltransferase 7 enzyme reveal conformational changes and substrate binding
  2. Tsutsui, Y.; Ramakrishnan, B.; Qasba, P. K.
  3. Journal of Biological Chemistry. 2013, 1-Nov; 288(44): 31963-70.
  1. 2.   Hematologically important mutations: X-linked chronic granulomatous disease (third update)
  2. Roos, D.; Kuhns, D. B.; Maddalena, A.; Roesler, J.; Lopez, J. A.; Ariga, T.; Avcin, T.; de Boer, M.; Bustamante, J.; Condino-Neto, A.; Di Matteo, G.; He, J. X.; Hill, H. R.; Holland, S. M.; Kannengiesser, C.; Koker, M. Y.; Kondratenko, I.; van Leeuwen, K.; Malech, H. L.; Marodi, L.; Nunoi, H.; Stasia, M. J.; Ventura, A. M.; Witwer, C. T.; Wolach, B.; Gallin, J. I.
  3. Blood Cells Molecules and Diseases. 2010, Oct; 45(3): 246-265.
  1. 3.   RT-SHIV subpopulation dynamics in infected macaques during anti-HIV therapy
  2. Shao, W.; Kearney, M.; Maldarelli, F.; Mellors, J. W.; Stephens, R. M.; Lifson, J. D.; KewalRamani, V. N.; Ambrose, Z.; Coffin, J. M.; Palmer, S. E.
  3. Retrovirology. 2009 6: 101.
  1. 4.   Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA
  2. Farasat, S.; Wei, M. H.; Herman, M.; Liewehr, D. J.; Steinberg, S. M.; Bale, S. J.; Fleckman, P.; Toro, J. R.
  3. Journal of Medical Genetics. 2009 46(2): 103-111.
  1. 5.   Functional Redundancy of Exon 12 of BRCA2 Revealed by a Comprehensive Analysis of the c.6853A > G (p.I2285V) Variant
  2. Li, L. L.; Biswas, K.; Habib, L. A.; Kuznetsov, S. G.; Hamel, N.; Kirchhoff, T.; Wong, N.; Armel, S.; Chong, G.; Narod, S. A.; Claes, K.; Offit, K.; Robson, M. E.; Stauffer, S.; Sharan, S. K.; Foulkes, W. D.
  3. Human Mutation. 2009 30(11): 1543-1550.
  1. 6.   Development of two novel benzoylphenylurea sulfur analogues and evidence that the microtubule-associated protein tau is predictive of their activity in pancreatic cancer
  2. Jimeno, A.; Hallur, G.; Chan, A.; Zhang, X. F.; Cusatis, G.; Chan, F.; Shah, P.; Chen, R. B.; Hamel, E.; Garrett-Mayer, E.; Khan, S.; Hidalgo, M.
  3. Molecular Cancer Therapeutics. 2007, May; 6(5): 1509-1516.
  1. 7.   RNA regulation and cancer development
  2. Scholzova, E.; Malik, R.; Sevcik, J.; Kleibl, Z.
  3. Cancer Letters. 2007, Feb; 246(1-2): 12-23.
  1. 8.   Novel mutations in FH and expansion of the spectrum of phenotypes expressed in families with hereditary leiomyomatosis and renal cell cancer
  2. Wei, M. H.; Toure, O.; Glenn, G. M.; Pithukpakorn, M.; Neckers, L.; Stolle, C.; Choyke, P.; Grubb, R.; Middelton, L.; Turner, M. L.; Walther, M. M.; Merino, M. J.; Zbar, B.; Linehan, W. M.; Toro, J. R.
  3. Journal of Medical Genetics. 2006, JAN; 43(1): 18-27.
  1. 9.   ABCA3 mutations associated with pediatric interstitial lung disease
  2. Bullard, J. E.; Wert, S. E.; Whitsett, J. A.; Dean, M.; Nogee, L. M.
  3. American Journal of Respiratory and Critical Care Medicine. 2005, OCT 15; 172(8): 1026-1031.
  1. 10.   Targeted disruption of mouse Coch provides functional evidence that DFNA9 hearing loss is not a COCH haploinsufficiency disorder
  2. Makishima, T.; Rodriguez, C. I.; Robertson, N. G.; Morton, C. C.; Stewart, C. L.; Griffith, A. J.
  3. Human Genetics. 2005, OCT; 118(1): 29-34.
  1. 11.   A common haplotype in the complement regulatory gene factor H (HF1/CFH) predisposes individuals to age-related macular degeneration
  2. Hageman, G. S.; Anderson, D. H.; Johnson, L. V.; Hancox, L. S.; Taiber, A. J.; Hardisty, L. I.; Hageman, J. L.; Stockman, H. A.; Borchardt, J. D.; Gehrs, K. M.; Smith, R. J. H.; Silvestri, G.; Russell, S. R.; Klaver, C. C. W.; Barbazetto, I.; Chang, S.; Yannuzzi, L. A.; Barile, G. R.; Merriam, J. C.; Smith, R. T.; Olsh, A. K.; Bergeron, J.; Zernant, J.; Merriam, J. E.; Gold, B.; Dean, M.; Allikmets, R.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2005, MAY 17; 102(20): 7227-7232.
  1. 12.   Retrospective family study of childhood medulloblastoma
  2. Ng, D.; Stavrou, T.; Liu, L.; Taylor, M. D.; Gold, B.; Dean, M.; Kelley, M. J.; Dubovsky, E. C.; Vezina, G.; Nicholson, H. S.; Byrne, J.; Rutka, J. T.; Hogg, D.; Reaman, G. H.; Goldstein, A. M.
  3. American Journal of Medical Genetics Part A. 2005, MAY 1; 134A(4): 399-403.
  1. 13.   In the quest for stable rescuing mutants of p53: Computational mutagenesis of flexible loop L1
  2. Pan, Y. P.; Ma, B. Y.; Venkataraghavan, R. B.; Levine, A. J.; Nussinov, R.
  3. Biochemistry. 2005, FEB 8; 44(5): 1423-1432.
  1. 14.   In vivo functional analysis of missense mutations in BRCA1 using humanized mouse models
  2. Yang, Y. P.; Martin, B. K.; Sharan, S. K.
  3. Cancer Epidemiology Biomarkers & Prevention. 2004, NOV; 13(11, Part 2): 1837S-1837S.
  1. 15.   Early onset hereditary papillary renal carcinoma: Germline missense mutations in the tyrosine kinase domain of the met proto-oncogene
  2. Schmidt, L. S.; Nickerson, M. L.; Angeloni, D.; Glenn, G. M.; Walther, M. M.; Albert, P. S.; Warren, M. B.; Choyke, P. L.; Torres-Cabala, C. A.; Merino, M. J.; Brunet, J.; Berez, V.; Borras, J.; Sesia, G.; Middelton, L.; Phillips, J. L.; Stolle, C.; Zbar, B.; Pautler, S. E.; Linehan, W. M.
  3. Journal of Urology. 2004, OCT; 172(4): 1256-1261.
  1. 16.   RBSP3 (HYA22) is a tumor suppressor gene implicated in major epithelial malignancies
  2. Kashuba, V. I.; Li, J. F.; Wang, F. L.; Senchenko, V. N.; Protopopov, A.; Malyukova, A.; Kutsenko, A. S.; Kadyrova, E.; Zabarovska, V. I.; Muravenko, O. V.; Zelenin, A. V.; Kisselev, L. L.; Kuzmin, I.; Minna, J. D.; Winberg, G.; Ernberg, I.; Braga, E.; Lerman, M. I.; Klein, G.; Zabarovsky, E. R.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2004 101(14): 4906-4911.
  1. 17.   ABCA3 gene mutations in newborns with fatal surfactant deficiency
  2. Shulenin, S.; Nogee, L. M.; Annilo, T.; Wert, S. E.; Whitsett, J. A.; Dean, M.
  3. New England Journal of Medicine. 2004 350(13): 1296-1303.
  1. 18.   Mutant presenilins specifically elevate the levels of the 42 residue beta-amyloid peptide in vivo: evidence for augmentation of a 42-specific gamma secretase
  2. Jankowsky, J. L.; Fadale, D. J.; Anderson, J.; Xu, G. M.; Gonzales, V.; Jenkins, N. A.; Copeland, N. G.; Lee, M. K.; Younkin, L. H.; Wagner, S. L.; Younkin, S. G.; Borchelt, D. R.
  3. Human Molecular Genetics. 2004 13(2): 159-170.
  1. 19.   The laminopathies: nuclear structure meets disease
  2. Mounkes, L.; Kozlov, S.; Burke, B.; Stewart, C. L.
  3. Current Opinion in Genetics & Development. 2003 13(3): 223-230.
  1. 20.   Characterization of adiposity and metabolism in Lmna-deficient mice
  2. Cutler, D. A.; Sullivan, T.; Marcus-Samuels, B.; Stewart, C. L.; Reitman, M. L.
  3. Biochemical and Biophysical Research Communications. 2002 291(3): 522-527.
  1. 21.   Accumulation of proteolytic fragments of mutant presenilin 1 and accelerated amyloid deposition are co-regulated in transgenic mice
  2. Borchelt, D. R.; Lee, M. K.; Gonzales, V.; Slunt, H. H.; Ratovitski, T.; Jenkins, N. A.; Copeland, N. G.; Price, D. L.; Sisodia, S. S.
  3. Neurobiology of Aging. 2002 23(2): 171-177.
  1. 22.   Life at the edge: The nuclear envelope and human disease
  2. Burke, B.; Stewart, C. L.
  3. Nature Reviews Molecular Cell Biology. 2002 3(8): 575-585.
  1. 23.   The A-type lamins - Nuclear structural proteins as a focus for muscular dystrophy and cardiovascular diseases
  2. Mounkes, L. C.; Burke, B.; Stewart, C. L.
  3. Trends in Cardiovascular Medicine. 2001 11(7): 280-285.
  1. 24.   The nuclear envelope in muscular dystrophy and cardiovascular diseases
  2. Burke, B.; Mounkes, L. C.; Stewart, C.
  3. Traffic. 2001 2(10): 675-683.
  1. 25.   Mutation patterns in non-ras oncogenes and tumour suppressor genes in experimentally induced tumours
  2. Perantoni, A. L.; Rice, J. M.
  3. IARC Scientific Publications. 1999 146: 87-122.
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