CIUSSS Capitale nationale logo

Publications

Export 52 results:
Filtres: Keyword is Mutation  [Enlever les filtres]
2014
Mechakra A, Vincent Y, Chevalier P, Millat G, Ficker E, Jastrzebski M, Poulin H, Pouliot V, Chahine M, Christé G. The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT. Gene. 2014;536(2):348-56.
Bureau A, Parker MM, Ruczinski I, Taub MA, Marazita ML, Murray JC, Mangold E, Noethen MM, Ludwig KU, Hetmanski JB, Bailey-Wilson JE, Cropp CD, Li Q, Szymczak S, Albacha-Hejazi H, Alqosayer K, L Field L, Wu-Chou Y-, Doheny KF, Ling H, Scott AF, Beaty TH. Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts. Genetics. 2014;197(3):1039-44.
Gosselin-Badaroudine P, Moreau A, Chahine M. Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link? Channels (Austin). 2014;8(1):90-4.
Poulin H, Bruhova I, Timour Q, Thériault O, Beaulieu J-, Frassati D, Chahine M. Fluoxetine blocks Nav1.5 channels via a mechanism similar to that of class 1 antiarrhythmics. Mol Pharmacol. 2014;86(4):378-89.
Jourdain P, Becq F, Lengacher S, Boinot C, Magistretti PJ, 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. 2014;127(Pt 3):546-56.
Ward ME, Taubes A, Chen R, Miller BL, Sephton CF, Gelfand JM, Minami S, Boscardin J, Martens LH, Seeley WW, Yu G, Herz J, Filiano AJ, Arrant AE, Roberson ED, Kraft TW, Farese RV, Green A, Gan L. Early retinal neurodegeneration and impaired Ran-mediated nuclear import of TDP-43 in progranulin-deficient FTLD. J Exp Med. 2014;211(10):1937-45.
2012
Raingo J, Khvotchev M, Liu P, Darios F, Li YC, Ramirez DM, Adachi M, Lemieux P, Tóth K, Davletov B, Kavalali ET. VAMP4 directs synaptic vesicles to a pool that selectively maintains asynchronous neurotransmission. Nat Neurosci. 2012;15(5):738-45.
Gosselin-Badaroudine P, Keller DI, Huang H, Pouliot V, Chatelier A, Osswald S, Brink M, Chahine M. A proton leak current through the cardiac sodium channel is linked to mixed arrhythmia and the dilated cardiomyopathy phenotype. PLoS ONE. 2012;7(5):e38331.
Brotherton TE, Li Y, Cooper D, Gearing M, J-P Julien, Rothstein JD, Boylan K, Glass JD. Localization of a toxic form of superoxide dismutase 1 protein to pathologically affected tissues in familial ALS. Proc Natl Acad Sci USA. 2012;109(14):5505-10.
Cenik B, Sephton CF, Cenik BK, Herz J, Yu G. Progranulin: a proteolytically processed protein at the crossroads of inflammation and neurodegeneration. J Biol Chem. 2012;287(39):32298-306.
Gosselin-Badaroudine P, Delemotte L, Moreau A, Klein ML, Chahine M. Gating pore currents and the resting state of Nav1.4 voltage sensor domains. Proc Natl Acad Sci USA. 2012;109(47):19250-5.
Gentil BJ, Minotti S, Beange M, Baloh RH, J-P Julien, Durham HD. Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease. FASEB J. 2012;26(3):1194-203.

Financement / Soutien / Partenaires

logo FRQ-S logo ctrn logo fci logo cihr irsc logo nserc logo MESISentinelle nord