1 | CHRNA4, CHRNB2, ENFL1, ENFL3
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| Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis.
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| Manfredi I, Zani AD, Rampoldi L, Pegorini S, Bernascone I, Moretti M, Gotti C, Croci L, Consalez GG, Ferini-Strambi L, Sala M, Pattini L, Casari G.
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| Hum Mol Genet 18(6):1075-88. Epub 2009 Jan 18.
2009
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2 | CHRNB2, ENFL3
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| Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.
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| Díaz-Otero F, Quesada M, Morales-Corraliza J, Martínez-Parra C, Gómez-Garre P, Serratosa JM.
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| Epilepsia 49(3):516-20. Epub 2007 Sep 26.PMID: 17900292 2008
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3 | ACE, APOE, CHRNB2, CST3, ESR1, GAPDHS, IDE, MTHFR, NCSTN, PRNP, PSEN1, TF, TFAM, TNF
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| Systematic meta-analyses of Alzheimer disease genetic association studies: the AlzGene database.
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| Bertram L, McQueen MB, Mullin K, Blacker D, Tanzi RE.
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| Nat Genet 39(1):17-23. 2007
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4 | CHRNB2
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| Nicotine acts as a pharmacological chaperone to up-regulate human alpha4beta2 acetylcholine receptors.
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| Kuryatov A, Luo J, Cooper J, Lindstrom J.
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| Mol Pharmacol 68(6):1839-51. Epub 2005 Sep 23. 2005
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5 | CHRNB2, ENFL3
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| CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy.
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| Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC.
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| Am J Hum Genet 68(1):225-31. 2001
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6 | CHRNB2, ENFL3
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| The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy.
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| De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G.
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| Nat Genet 26(3):275-6. 2000
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7 | CHRNB2
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| Genomic organization and mapping of the human and mouse neuronal beta2-nicotinic acetylcholine receptor genes.
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| Lueders KK, Elliott RW, Marenholz I, Mischke D, DuPree M, Hamer D.
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| Mamm Genome 10(9):900-5 1999
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8 | CHRNA3, CHRNB2
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| The structures of the human neuronal nicotinic acetylcholine receptor beta2- and alpha3-subunit genes (CHRNB2 and CHRNA3).
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| Rempel N, Heyers S, Engels H, Sleegers E, Steinlein OK.
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| Hum Genet 103 : 645-653. 1998
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9 | CHRNA2, CHRNA3, CHRNA4, CHRNA5, CHRNA6, CHRNA7, CHRNB2, CHRNB3, CHRNB4
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| Comparative structure of human neuronal alpha 2-alpha 7 and beta 2-beta 4 nicotinic acetylcholine receptor subunits and functional expression of the alpha 2, alpha 3, alpha 4, alpha 7, beta 2, and beta 4 subunits.
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| Elliott KJ, Ellis SB, Berckhan KJ, Urrutia A, Chavez-Noriega LE, Johnson EC, Veliçelebi G, Harpold MM.
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| J Mol Neurosci 7(3):217-28.
1996
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10 | CHRNA4, CHRNB2
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| Cloning and transient expression of genes encoding the human alpha4 and beta2 neuronal nicotinic acetylcholine receptor (nAChR) subunits.
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| Monteggia LM, et al.
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| Gene 155 : 189-193. 1995
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11 | CHRN@, CHRNA4, CHRNB2, CHRNA2, CHRNB3
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| Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans.
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| Anand R, et al.
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| Genomics 13 : 962-967. 1992
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12 | CHRNA2, CHRNA4, CHRNA5, CHRNB2, CHRNB3, CHRNB4
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| Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans.
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| Anand R, Lindstrom J.
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| Genomics 13(4):962-7.
1992
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13 | CHRNB2
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| Nucleotide sequence of the human nicotinic acetylcholine receptor beta2 subunit gene.
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| Anand R, et al.
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| Nucleic Acids Res 18 : 4272. 1990
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