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  1. 1.   Mechanism of lipid droplet formation by the yeast Sei1/Ldb16 Seipin complex
  2. Klug, Yoel A.; Deme, Justin C.; Corey, Robin A.; Renne, Mike F.; Stansfeld, Phillip J.; Lea, Susan M.; Carvalho, Pedro
  3. Nature Communications. 2021, Oct 8; 12(1):
  1. 2.   A novel mouse model of PMS2 founder mutation that causes mismatch repair defect due to aberrant splicing
  2. Biswas,Kajal; Couillard, Martin; Cavallone, Luca; Burkett,Sandra; Stauffer,Stacey; Martin, Betty K.; Southon,Eileen; Reid,Susan; Plona,Teri; Baugher,Ryan; Mellott,Stephanie; Pike,Kristen; Albaugh,Mary; Maedler-Kron, Chelsea; Hamel, Nancy; Tessarollo,Lino; Marcus, Victoria; Foulkes, William D.; Sharan,Shyam
  3. Cell Death & Disease. 2021, Sep 6; 12(9):
  1. 3.   Biological scaffold-mediated delivery of myostatin inhibitor promotes a regenerative immune response in an animal model of Duchenne muscular dystrophy
  2. Estrellas, Kenneth M.; Chung, Liam; Cheug, Lindsay A.; Sadtler, Kaitlyn; Majumdar, Shoumyo; Mula,Jyothi; Wolf, Matthew T.; Elisseeff, Jennifer H.; Wagner, Kathryn R.
  3. JOURNAL OF BIOLOGICAL CHEMISTRY. 2018, OCT 5; 293(40): 15594-15605.
  1. 4.   Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report
  2. Ratnasamy, Vithiya; Navaneethakrishnan, Suganthan; Sirisena, Nirmala Dushyanthi; Grüning, Nana-Maria; Brandau, Oliver; Thirunavukarasu, Kumanan; Dagnall, Casey; McReynolds, Lisa J; Savage, Sharon A; Dissanayake, Vajira H W
  3. BMC Medical Genetics. 2018, May 25; 19(1): 85.
  1. 5.   Behavioral and Molecular Exploration of the AR-CMT2A Mouse Model Lmna (R298C/R298C)
  2. Poitelon, Y.; Kozlov, S.; Devaux, J.; Vallat, J. M.; Jamon, M.; Roubertoux, P.; Rabarimeriarijaona, S.; Baudot, C.; Hamadouche, T.; Stewart, C. L.; Levy, N.; Delague, V.
  3. Neuromolecular Medicine. 2012, Mar; 14(1): 40-52.
  1. 6.   Genetic deletion of trkB.T1 increases neuromuscular function
  2. Dorsey, S. G.; Lovering, R. M.; Renn, C. L.; Leitch, C. C.; Liu, X. Y.; Tallon, L. J.; Sadzewicz, L. D.; Pratap, A.; Ott, S.; Sengamalay, N.; Jones, K. M.; Barrick, C.; Fulgenzi, G.; Becker, J.; Voelker, K.; Talmadge, R.; Harvey, B. K.; Wyatt, R. M.; Vernon-Pitts, E.; Zhang, C.; Shokat, K.; Fraser-Liggett, C.; Balice-Gordon, R. J.; Tessarollo, L.; Ward, C. W.
  3. American Journal of Physiology-Cell Physiology. 2012, Jan; 302(1): C141-C153.
  1. 7.   The Bladder Tumor Suppressor Protein TERE1 (UBIAD1) Modulates Cell Cholesterol: Implications for Tumor Progression
  2. Fredericks, W. J.; McGarvey, T.; Wang, H. Y.; Lal, P.; Puthiyaveettil, R.; Tomaszewski, J.; Sepulveda, J.; Labelle, E.; Weiss, J. S.; Nickerson, M. L.; Kruth, H. S.; Brandt, W.; Wessjohann, L. A.; Malkowicz, S. B.
  3. DNA and Cell Biology. 2011, Nov; 30(11): 851-864.
  1. 8.   Analysis of the ABCA4 Gene by Next-Generation Sequencing
  2. Zernant, J.; Schubert, C.; Im, K. M.; Burke, T.; Brown, C. M.; Fishman, G. A.; Tsang, S. H.; Gouras, P.; Dean, M.; Allikmets, R.
  3. Investigative Ophthalmology & Visual Science. 2011, Oct; 52(11): 8479-8487.
  1. 9.   Dystrophin Is Required for the Normal Function of the Cardio-Protective K(ATP) Channel in Cardiomyocytes
  2. Graciotti, L.; Becker, J.; Granata, A. L.; Procopio, A. D.; Tessarollo, L.; Fulgenzi, G.
  3. Plos One. 2011, Oct; 6(10): 10.
  1. 10.   Characterization of feline hereditary retinal dystrophies using clinical, functional, structural and molecular genetic studies
  2. Narfstrom, K.; Raymond, M. M.; Seeliger, M.
  3. Veterinary Ophthalmology. 2011, Sep; 14: 30-36.
  1. 11.   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. 12.   Widespread retinal degenerative disease mutation (rdAc) discovered among a large number of popular cat breeds
  2. Menotti-Raymond, M.; David, V. A.; Pflueger, S.; Roelke, M. E.; Kehler, J.; O'Brien, S. I.; Narfstrom, K.
  3. Veterinary Journal. 2010, Oct; 186(1): 32-38.
  1. 13.   Functional Coupling between the Extracellular Matrix and Nuclear Lamina by Wnt Signaling in Progeria
  2. Hernandez, L.; Roux, K. J.; Wong, E. S. M.; Mounkes, L. C.; Mutalif, R.; Navasankari, R.; Rai, B.; Cool, S.; Jeong, J. W.; Wang, H. H.; Lee, H. S.; Kozlov, S.; Grunert, M.; Keeble, T.; Jones, C. M.; Meta, M. D.,; Young, S. G.; Daar, I. O.; Burke, B.; Perantoni, A. O.; Stewart, C. L.
  3. Developmental Cell. 2010, Sep 14; 19(3): 413-425.
  1. 14.   UBIAD1 Mutation Alters a Mitochondrial Prenyltransferase to Cause Schnyder Corneal Dystrophy
  2. Nickerson, M. L.; Kostiha, B. N.; Brandt, W.; Fredericks, W.; Xu, K. P.; Yu, F. S.; Gold, B.; Chodosh, J.; Goldberg, M.; Lu, D. W.; Yamada, M.; Tervo, T. M.; Grutzmacher, R.; Croasdale, C.; Hoeltzenbein, M.; Sutphin, J.; Malkowicz, S. B.; Wessjohann, L.; Kruth, H. S.; Dean, M.; Weiss, J. S.
  3. Plos One. 2010, May; 5(5): e10760.
  1. 15.   Genomic Profiling of Messenger RNAs and MicroRNAs Reveals Potential Mechanisms of TWEAK-Induced Skeletal Muscle Wasting in Mice
  2. Panguluri, S. K.; Bhatnagar, S.; Kumar, A.; McCarthy, J. J.; Srivastava, A. K.; Cooper, N. G.; Lundy, R. F.
  3. Plos One. 2010, Jan 19; 5(1): 17.
  1. 16.   Dysfunctional Connections Between the Nucleus and the Actin and Microtubule Networks in Laminopathic Models
  2. Hale, C. M.; Shrestha, A. L.; Khatau, S. B.; Stewart-Hutchinson, P. J.; Hernandez, L.; Stewart, C. L.; Hodzic, D.; Wirtz, D.
  3. Biophysical Journal. 2008 95(11): 5462-5475.
  1. 17.   Nuclear lamin A/C deficiency induces defects in cell mechanics, polarization, and migration
  2. Lee, J. S. H.; Hale, C. M.; Panorchan, P.; Khatau, S. B.; George, J. P.; Tseng, Y.; Stewart, C. L.; Hodzic, D.; Wirtz, D.
  3. Biophysical Journal. 2007, Oct; 93(7): 2542-2552.
  1. 18.   Cell nuclei spin in the absence of lamin B1
  2. Ji, J. Y.; Lee, R. T.; Vergnes, L.; Fong, L. G.; Stewart, C. L.; Reue, K.; Young, S. G.; Zhang, Q. P.; Shanahan, C. M.; Lammerding, J.
  3. Journal of Biological Chemistry. 2007, Jul; 282(27): 20015-20026.
  1. 19.   Mouse models of the laminopathies
  2. Stewart, C. L.; Kozlov, S.; Fong, L. G.; Young, S. G.
  3. Experimental Cell Research. 2007, Jun; 313(10): 2144-2156.
  1. 20.   Morphological and molecular course of mitochondrial pathology in cultured human cells exposed long-term to zidovudine
  2. Divi, R. L.; Haverkos, K. J.; Humsi, J. A.; Shockley, M. E.; Thamire, C.; Nagashima, K.; Olivero, O. A.; Poirier, M. C.
  3. Environmental and Molecular Mutagenesis. 2007, Apr-May; 48(3-4): 179-189.
  1. 21.   Repetitive DNA elements as mediators of genomic change in response to environmental cues
  2. Schmidt, A. L.; Anderson, L. M.
  3. Biological Reviews. 2006, Nov; 81(4): 531-543.
  1. 22.   Lamins A and C but not lamin B1 regulate nuclear mechanics
  2. Lammerding, J.; Fong, L. G.; Ji, J. Y.; Reue, K.; Stewart, C. L.; Young, S. G.; Lee, R. T.
  3. Journal of Biological Chemistry. 2006, Sep; 281(35): 25768-25780.
  1. 23.   Evolution of the vertebrate ABC gene family: Analysis of gene birth and death
  2. Annilo, T.; Chen, Z. Q.; Shulenin, S.; Costantino, J.; Thomas, L.; Lou, H.; Stefanov, S.; Dean, M.
  3. Genomics. 2006, Jul; 88(1): 1-11.
  1. 24.   Prelamin A and lamin A appear to be dispensable in the nuclear lamina
  2. Fong, L. G.; Ng, J. K.; Lammerding, J.; Vickers, T. A.; Meta, M.; Cote, N.; Gavino, B.; Qiao, X.; Chang, S. Y.; Young, S. R.; Yang, S. H.; Stewart, C. L.; Lee, R. T.; Bennett, C. F.; Bergo, M. O.; Young, S. G.
  3. Journal of Clinical Investigation. 2006, MAR; 116(3): 743-752.
  1. 25.   Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy
  2. Boguslavsky, R. L.; Stewart, C. L.; Worman, H. J.
  3. Human Molecular Genetics. 2006, FEB 15; 15(4): 653-663.
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