Export 56 results:
Filtres: Keyword is Mutation  [Enlever les filtres]
M. E. Ward, Taubes, A., Chen, R., Miller, B. L., Sephton, C. F., Gelfand, J. M., Minami, S., Boscardin, J., Martens, L. Herl, Seeley, W. W., Yu, G., Herz, J., Filiano, A. J., Arrant, A. E., Roberson, E. D., Kraft, T. W., Farese, R. V., Green, A., et Gan, L., « Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD. », J Exp Med, vol. 211, nᵒ 10, p. 1937-45, 2014.
H. Poulin, Bruhova, I., Timour, Q., Thériault, O., Beaulieu, J. - M., Frassati, D., et Chahine, M., « Fluoxetine blocks Nav1.5 channels via a mechanism similar to that of class 1 antiarrhythmics. », Mol Pharmacol, vol. 86, nᵒ 4, p. 378-89, 2014.
P. Jourdain, Becq, F., Lengacher, S., Boinot, C., Magistretti, P. J., et Marquet, P., « The human CFTR protein expressed in CHO cells activates aquaporin-3 in a cAMP-dependent pathway: study by digital holographic microscopy. », J Cell Sci, vol. 127, nᵒ Pt 3, p. 546-56, 2014.
P. Gosselin-Badaroudine, Moreau, A., et Chahine, M., « Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link? », Channels (Austin), vol. 8, nᵒ 1, p. 90-4, 2014.
A. Mechakra, Vincent, Y., Chevalier, P., Millat, G., Ficker, E., Jastrzebski, M., Poulin, H., Pouliot, V., Chahine, M., et Christé, G., « The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT. », Gene, vol. 536, nᵒ 2, p. 348-56, 2014.
A. Bureau, Parker, M. M., Ruczinski, I., Taub, M. A., Marazita, M. L., Murray, J. C., Mangold, E., Noethen, M. M., Ludwig, K. U., Hetmanski, J. B., Bailey-Wilson, J. E., Cropp, C. D., Li, Q., Szymczak, S., Albacha-Hejazi, H., Alqosayer, K., L Field, L., Wu-Chou, Y. - H., Doheny, K. F., Ling, H., Scott, A. F., et Beaty, T. H., « Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts. », Genetics, vol. 197, nᵒ 3, p. 1039-44, 2014.
P. Gosselin-Badaroudine, Delemotte, L., Moreau, A., Klein, M. L., et Chahine, M., « Gating pore currents and the resting state of Nav1.4 voltage sensor domains. », Proc Natl Acad Sci U S A, vol. 109, nᵒ 47, p. 19250-5, 2012.
T. E. Brotherton, Li, Y., Cooper, D., Gearing, M., J-P Julien, Rothstein, J. D., Boylan, K., et Glass, J. D., « Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS. », Proc Natl Acad Sci U S A, vol. 109, nᵒ 14, p. 5505-10, 2012.
B. J. Gentil, Minotti, S., Beange, M., Baloh, R. H., J-P Julien, et Durham, H. D., « Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease. », FASEB J, vol. 26, nᵒ 3, p. 1194-203, 2012.
B. Cenik, Sephton, C. F., Cenik, B. Kutluk, Herz, J., et Yu, G., « Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration. », J Biol Chem, vol. 287, nᵒ 39, p. 32298-306, 2012.
P. Gosselin-Badaroudine, Keller, D. I., Huang, H., Pouliot, V., Chatelier, A., Osswald, S., Brink, M., et Chahine, M., « A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype. », PLoS One, vol. 7, nᵒ 5, p. e38331, 2012.
J. Raingo, Khvotchev, M., Liu, P., Darios, F., Li, Y. C., Ramirez, D. M. O., Adachi, M., Lemieux, P., Tóth, K., Davletov, B., et Kavalali, E. T., « VAMP4 directs synaptic vesicles to a pool that selectively maintains asynchronous neurotransmission. », Nat Neurosci, vol. 15, nᵒ 5, p. 738-45, 2012.

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