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  1. 1.   Matrin3 regulates mitotic spindle dynamics by controlling alternative splicing of CDC14B
  2. Muys, Bruna R; Shrestha, Roshan L; Anastasakis, Dimitrios G; Pongor, Lorinc; Li, Xiao Ling; Grammatikakis, Ioannis; Polash, Ahsan; Chari,Raj; Gorospe, Myriam; Harris, Curtis C; Aladjem, Mirit I; Basrai, Munira A; Hafner, Markus; Lal, Ashish
  3. Cell Reports. 2023, Mar 15; 42(3): 112260.
  1. 2.   Calibration of pathogenicity due to variant-induced leaky splicing defects by using BRCA2 exon 3 as a model system
  2. Tubeuf, Hélène; Caputo, Sandrine M; Sullivan,Teresa; Rondeaux, Julie; Krieger, Sophie; Caux-Moncoutier, Virginie; Hauchard, Julie; Castelain, Gaia; Fiévet, Alice; Meulemans, Laëtitia; Révillion, Françoise; Léone, Mélanie; Boutry-Kryza, Nadia; Delnatte, Capucine; Guillaud-Bataille, Marine; Cleveland, Linda; Reid,Susan; Southon,Eileen; Soukarieh, Omar; Drouet, Aurélie; Di Giacomo, Daniela; Vezain, Myriam; Bonnet-Dorion, Françoise; Bourdon, Violaine; Larbre, Hélène; Muller, Danièle; Pujol, Pascal; Vaz, Fátima; Audebert-Bellanger, Séverine; Colas, Chrystelle; Venat-Bouvet, Laurence; Solano, Angela R; Stoppa-Lyonnet, Dominique; Houdayer, Claude; Frebourg, Thierry; Gaildrat, Pascaline; Sharan, Shyam K; Martins, Alexandra
  3. Cancer research. 2020, SEP 1; 80(17): 3593-3605.
  1. 3.   Suppression of the C/EBP family of transcription factors in adipose tissue causes lipodystrophy
  2. Chatterjee, R.; Bhattacharya, P.; Gavrilova, O.; Glass, K.; Moitra, J.; Myakishev, M.; Pack, S.; Jou, W.; Feigenbaum, L.; Eckhaus, M.; Vinson, C.
  3. Journal of Molecular Endocrinology. 2011, Jun; 46(3): 175-192.
  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.   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. 7.   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. 8.   Germline BHD-mutation spectrum and phenotype analysis of a large cohort of families with Birt-Hogg-Dube syndrome
  2. Schmidt, L. S.; Nickerson, M. L.; Warren, M. B.; Glenn, G. M.; Toro, J. R.; Merino, M. J.; Turner, M. L.; Choyke, P. L.; Sharma, N.; Peterson, J.; Morrison, P.; Maher, E. R.; Walther, M. M.; Zbar, B.; Linehan, W. M.
  3. American Journal of Human Genetics. 2005, JUN; 76(6): 1023-1033.
  1. 9.   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. 10.   A germ-line insertion in the Birt-Hogg-Dube (BHD) gene gives rise to the Nihon rat model of inherited renal cancer
  2. Okimoto, K.; Sakurai, J.; Kobayashi, T.; Mitani, H.; Hirayama, Y.; Nickerson, M. L.; Warren, M. B.; Zbar, B.; Schmidt, L. S.; Hino, O.
  3. Proceedings of the National Academy of Sciences of the United States of America. 2004 101(7): 2023-2027.
  1. 11.   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. 12.   Identification and functional clustering of global gene expression differences between human age-related cataract and clear lenses
  2. Hawse, J.; Hejtmancik, J.; Huang, Q. L.; Sheets, N.; Hosack, D.; Lempicki, R.; Horwitz, J.; Kantorow, M.
  3. Molecular Vision. 2003 9(63-66): 515-537.
  1. 13.   Aberrant splicing induced by missense mutations in BRCA1: clues from a humanized mouse model
  2. Yang, Y. P.; Swaminathan, S.; Martin, B. K.; Sharan, S. K.
  3. Human Molecular Genetics. 2003 12(17): 2121-2131.
  1. 14.   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.
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