TAILIEUCHUNG - Báo cáo y học: "Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Minireview cung cấp cho các bạn kiến thức về ngành y đề tài: Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease. | Open Access Research Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer s disease Erin L Heinzen Woohyun Yoon Michael E Weale Arjune Sen Nicholas W Wood James R Burke Kathleen A Welsh-Bohmer Christine M Hulette Sanjay M Sisodiya and David B Goldstein Addresses institute for Genome Sciences and Policy Center for Population Genomics and Pharmacogenetics Duke University Durham NC 27710 USA. Department of Clinical and Experimental Epilepsy Institute of Neurology Queen Square London WC1N 3BG UK. Department of Molecular Neuroscience Institute of Neurology Queen Square London WC1N 3BG UK. Joseph and Kathleen Bryan Alzheimer s Disease Research Center Duke University Durham NC 27710 USA. H These authors contributed equally to this work. Correspondence David B Goldstein. Email Published 7 March 2007 Received 6 November 2006 Genome Biology 2007 8 R32 doi gb-2007-8-3-r32 Revisldj JV rUh 2007 gy g Accepted 7 March 2007 The electronic version of this article is the complete one and can be found online at http 2007 8 3 R32 2007 Heinzen et al. licensee BioMed Central Ltd. This is an open access article distributed under the terms of the Creative Commons Attribution License http licenses by which permits unrestricted use distribution and reproduction in any medium provided the original work is properly cited. Abstract Background Alternative gene transcript splicing permits a single gene to produce multiple proteins with varied functions. Bioinformatic investigations have identified numerous splice variants but whether these transcripts are translated to functional proteins and the physiological significance of these alternative proteins are largely unknown. Through direct identification of splice variants associated with disease states we can begin to address these questions and to elucidate their roles in disease predisposition and pathophysiology. This work specifically sought to .

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