| 1 | CHRNA1
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| Antisense oligonucleotide-mediated exon skipping of CHRNA1 pre-mRNA as potential therapy for Congenital Myasthenic Syndromes.
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| Tei S, Ishii HT, Mitsuhashi H, Ishiura S.
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| Biochem Biophys Res Commun 461(3):481-6. doi: 10.1016/j.bbrc.2015.04.035. Epub 2015 Apr 16. 2015
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| 2 | CHRNA1
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| Congenital myasthenic syndromes and the neuromuscular junction.
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| Rodríguez Cruz PM, Palace J, Beeson D.
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| Curr Opin Neurol 27(5):566-75. doi: 10.1097/WCO.0000000000000134. Review.
2014
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| 3 | CHRNA1, HNRNPL, HNRNPLL
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| HnRNP L and hnRNP LL antagonistically modulate PTB-mediated splicing suppression of CHRNA1 pre-mRNA.
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| Rahman MA, Masuda A, Ohe K, Ito M, Hutchinson DO, Mayeda A, Engel AG, Ohno K.
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| Sci Rep 3:2931. doi: 10.1038/srep02931.
2013
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| 4 | AGRN, CHRNA1
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| Agrin induces association of Chrna1 mRNA and nicotinic acetylcholine receptor in C2C12 myotubes.
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| Chang YF, Chou HJ, Yen YC, Chang HW, Hong YR, Huang HW, Tseng CN.
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| FEBS Lett 586(19):3111-6. doi: 10.1016/j.febslet.2012.07.068. Epub 2012 Aug 2.
2012
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| 5 | CHRNA1
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| Nicotinic acetylcholine receptor α1 promotes calpain-1 activation and macrophage inflammation in hypercholesterolemic nephropathy.
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| Zhang G, Thomas AL, Marshall AL, Kernan KA, Su Y, Zheng Y, Takano J, Saido TC, Eddy AA.
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| Lab Invest 91(1):106-23. doi: 10.1038/labinvest.2010.135. Epub 2010 Jul 26.
2011
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| 6 | CHRNA1
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| In vivo knockdown of nicotinic acetylcholine receptor α1 diminishes aortic atherosclerosis.
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| Zhang G, Marshall AL, Thomas AL, Kernan KA, Su Y, LeBoeuf RC, Dong XR, Tchao BN.
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| Atherosclerosis 215(1):34-42. doi: 10.1016/j.atherosclerosis.2010.07.057. Epub 2010 Aug 10.
2011
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| 7 | CAV3, CHRNA1
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| Caveolin-3 promotes nicotinic acetylcholine receptor clustering and regulates neuromuscular junction activity.
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| Hezel M, de Groat WC, Galbiati F.
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| Mol Biol Cell 21(2):302-10. doi: 10.1091/mbc.E09-05-0381. Epub 2009 Nov 25.
2010
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| 8 | CHRNA1
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| A novel signaling pathway: fibroblast nicotinic receptor alpha1 binds urokinase and promotes renal fibrosis.
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| Zhang G, Kernan KA, Thomas A, Collins S, Song Y, Li L, Zhu W, Leboeuf RC, Eddy AA.
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| J Biol Chem 284(42):29050-64. doi: 10.1074/jbc.M109.010249. Epub 2009 Aug 18.
2009
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| 9 | CHRNA1
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| Acetylcholine receptor-alpha subunit expression in myasthenia gravis: a role for the autoantigen in pathogenesis?
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| Sheng JR, Li LC, Prabhakar BS, Meriggioli MN.
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| Muscle Nerve 40(2):279-86. doi: 10.1002/mus.21371.
2009
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| 10 | RAPSN, MPTLT2, CHRNA1, CHRNB1, CHRND
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| Mutation analysis of CHRNA1, CHRNB1, CHRND, and RAPSN genes in multiple pterygium syndrome/fetal akinesia patients.
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| Vogt J, Harrison BJ, Spearman H, Cossins J, Vermeer S, ten Cate LN, Morgan NV, Beeson D, Maher ER.
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| Am J Hum Genet 82(1):222-7. 2008
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| 11 | MPTLT3, MPTLT4, CHRNA1, CHRND
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| Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
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| Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Krber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K.
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| Am J Hum Genet 82(2):464-76. 2008
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| 12 | CHRNA1
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| A central role for nicotinic cholinergic regulation of growth factor-induced endothelial cell migration.
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| Ng MK, Wu J, Chang E, Wang BY, Katzenberg-Clark R, Ishii-Watabe A, Cooke JP.
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| Arterioscler Thromb Vasc Biol 27(1):106-12. Epub 2006 Nov 2. 2007
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| 13 | IRF8, AIRE, CHRNA1
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| An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus.
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| Giraud M, Taubert R, Vandiedonck C, Ke X, Levi-Strauss M, Pagani F, Baralle FE, Eymard B, Tranchant C, Gajdos P, Vincent A, Willcox N, Beeson D, Kyewski B, Garchon HJ.
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| Nature 448(7156):934-7. Epub 2007 Aug 8. 2007
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| 14 | CHRNA1, CMS1A
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| Mutation in the AChR ion channel gate underlies a fast channel congenital myasthenic syndrome.
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| Webster R, Brydson M, Croxen R, Newsom-Davis J, Vincent A, Beeson D.
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| Neurology 62(7):1090-6. 2004
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| 15 | CHRNA1, CMS1A
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| Mutations in different functional domains of the human muscle acetylcholine receptor alpha subunit in patients with the slow-channel congenital myasthenic syndrome.
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| Croxen R, Newland C, Beeson D, Oosterhuis H, Chauplannaz G, Vincent A, Newsom-Davis J.
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| Hum Mol Genet 6(5):767-74. 1997
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| 16 | CHRNA1, CHRNB1, CHRND, CHRNE, CMS1A, CMS2B, CMS4A
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| New mutations in acetylcholine receptor subunit genes reveal heterogeneity in the slow-channel congenital myasthenic syndrome.
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| Engel AG, Ohno K, Milone M, Wang HL, Nakano S, Bouzat C, Pruitt JN 2nd, Hutchinson DO, Brengman JM, Bren N, Sieb JP, Sine SM.
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| Hum Mol Genet 5 : 1217-1227. 1996
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| 17 | CHRNA1, CMS1A
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| Mutation of the acetylcholine receptor alpha subunit causes a slow-channel myasthenic syndrome by enhancing agonist binding affinity.
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| Sine SM, Ohno K, Bouzat C, Auerbach A, Milone M, Pruitt JN, Engel AG.
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| Neuron 15 : 229-239. 1995
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| 18 | CHRNA1, CMS1A
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| A leucine-to-phenylalanine substitution in the acetylcholine receptor ion channel in a family with the Slow-Channel syndrome.
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| Gomez CM, et al.
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| Neurology 45 : 982-985. 1995
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| 19 | CHRNA1
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| Involvement of human muscle acetylcholine receptor alpha-subunit gene (CHRNA) in susceptibility to myasthenia gravis.
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| Garchon HJ, et al.
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| Proc Natl Acad Sci U S A 91 : 4668-4672. 1994
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| 20 | CHRNA1, CHRNB1, CHRND, CHRNG
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| Assignment of the human nicotinic acetylcholine receptor genes: the alpha and delta subunit genes to chromosome 2 and the beta subunit gene to chromosome 17.
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| Beeson D, Jeremiah S, West LF, Povey S, Newsom-Davis J.
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| Ann Hum Genet 54(Pt 3):199-208. 1990
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| 21 | CHRNA1
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| The human muscle nicotinic acetylcholine receptor alpha-subunit exist as two isoforms: a novel exon.
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| Beeson D, Morris A, Vincent A, Newsom-Davis J.
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| EMBO J 9(7):2101-6. 1990
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