| 1 | CHRNA4
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| Association of CHRNA4 polymorphism with depression and loneliness in elderly males.
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| Tsai SJ, Yeh HL, Hong CJ, Liou YJ, Yang AC, Liu ME, Hwang JP.
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| Genes Brain Behav 11(2):230-4. doi: 10.1111/j.1601-183X.2011.00741.x. Epub 2011 Nov 23.
2012
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| 2 | CHRNA4, DEL20Q, KCNQ2
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| Epilepsy due to 20q13.33 subtelomere deletion masquerading as pyridoxine-dependent epilepsy.
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| Mefford HC, Cook J, Gospe SM Jr.
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| Am J Med Genet A 158A(12):3190-5. doi: 10.1002/ajmg.a.35633. Epub 2012 Nov 19.
2012
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| 3 | CHRNA4, ENFL1
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| Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.
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| Hwang SK, Makita Y, Kurahashi H, Cho YW, Hirose S.
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| J Hum Genet 56(8):609-12. doi: 10.1038/jhg.2011.69. Epub 2011 Jul 14.
2011
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| 4 | CHRNA4, ENFL1
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| Epistasis between APOE and nicotinic receptor gene CHRNA4 in age related cognitive function and decline.
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| Reinvang I, Lundervold AJ, Wehling E, Rootwelt H, Espeseth T.
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| J Int Neuropsychol Soc 16(3):424-32. Epub 2010 Mar 24.
2010
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| 5 | 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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| 6 | ADRA2A, CHRNA4, DRD4, DRD5, SLC6A3, SNAP25
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| Candidate gene studies of ADHD: a meta-analytic review.
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| Gizer IR, Ficks C, Waldman ID.
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| Hum Genet 126(1):51-90. Epub 2009 Jun 9. Review. 2009
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| 7 | CHRNA4, CHRNA6
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| Cloning and spatiotemporal expression of zebrafish neuronal nicotinic acetylcholine receptor alpha 6 and alpha 4 subunit RNAs.
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| Ackerman KM, Nakkula R, Zirger JM, Beattie CE, Boyd RT.
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| Dev Dyn 238(4):980-92.PMID: 19301390 2009
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| 8 | CHRNA4
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| Rare missense variants of neuronal nicotinic acetylcholine receptor altering receptor function are associated with sporadic amyotrophic lateral sclerosis.
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| Sabatelli M, Eusebi F, Al-Chalabi A, Conte A, Madia F, Luigetti M, Mancuso I, Limatola C, Trettel F, Sobrero F, Di Angelantonio S, Grassi F, Di Castro A, Moriconi C, Fucile S, Lattante S, Marangi G, Murdolo M, Orteschi D, Del Grande A, Tonali P, Neri G, Zollino M.
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| Hum Mol Genet 18(20):3997-4006. Epub 2009 Jul 23.
2009
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| 9 | DEL20QT, CHRNA4, KCNQ2
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| Genotype-phenotype correlations to aid in the prognosis of individuals with uncommon 20q13.33 subtelomere deletions: a collaborative study on behalf of the 'association des Cytogeneticiens de langue Francaise'.
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| Beri-Deixheimer M, Gregoire MJ, Toutain A, Brochet K, Briault S, Schaff JL, Leheup B, Jonveaux P.
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| Eur J Hum Genet 15(4):446-52. Epub 2007 Feb 7. 2007
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| 10 | CHRNA4
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| Association of attentional network function with exon 5 variations of the CHRNA4 gene.
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| Winterer G, Musso F, Konrad A, Vucurevic G, Stoeter P, Sander T, Gallinat J.
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| Hum Mol Genet 16(18):2165-74. Epub 2007 Jul 5. 2007
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| 11 | CHRNA4, ENFL1
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| Genetic disorders caused by mutated acetylcholine receptors.
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| Steinlein OK.
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| Life Sci 80(24-25):2186-90. Epub 2007 Mar 19.
2007
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| 12 | CHRNA4, ENFL1
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| Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy.
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| Klaassen A, Glykys J, Maguire J, Labarca C, Mody I, Boulter J.
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| Proc Natl Acad Sci U S A 103(50):19152-7. Epub 2006 Dec 4. 2006
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| 13 | CHRNA4
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| Ethnic- and gender-specific association of the nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4) with nicotine dependence.
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| Li MD, Beuten J, Ma JZ, Payne TJ, Lou XY, Garcia V, Duenes AS, Crews KM, Elston RC.
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| Hum Mol Genet 14(9):1211-9. Epub 2005 Mar 24. 2005
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| 14 | ENFL1, CHRNA4, BRD2, ME2, LGI1, EPT, EFHC1, EJM1, BFNIS, SCN2A
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| Sacred disease secrets revealed: the genetics of human epilepsy.
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| Turnbull J, Lohi H, Kearney JA, Rouleau GA, Delgado-Escueta AV, Meisler MH, Cossette P, Minassian BA.
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| Hum Mol Genet 14(17):2491-500. Epub 2005 Jul 27. 2005
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| 15 | CHRNA3,CHRNA4,UBQLN1
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| Ubiquilin-1 regulates nicotine-induced up-regulation of neuronal nicotinic acetylcholine receptors.
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| Ficklin MB, Zhao S, Feng G.
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| J Biol Chem 280(40):34088-95. Epub 2005 Aug 9. 2005
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| 16 | ENFL1, CHRNA4
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| Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy.
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| Steinlein OK, Stoodt J, Mulley J, Berkovic S, Scheffer IE, Brodtkorb E.
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| Epilepsia 41(5):529-35. 2000
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| 17 | CHRNA4, ENFL1
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| Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene.
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| Saenz A, Galan J, Caloustian C, Lorenzo F, Marquez C, Rodriguez N, Jimenez MD, Poza JJ, Cobo AM, Grid D, Prud'homme JF, Lopez de Munain A.
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| Arch Neurol 56(8):1004-9 1999
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| 18 | CHRNA4
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| SSCP variants within the alpha4 subunit of the neuronal nicotinic acetylcholine receptor gene.
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| Phillips HA, et al.
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| Clin Genet 51 : 135-136. 1997
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| 19 | CHRNA4, ENFL1
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| An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy.
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| Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D.
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| Hum Mol Genet 6(6):943-7. 1997
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| 20 | CHRNA4, ENFL1
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| Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors.
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| Kuryatov A, Gerzanich V, Nelson M, Olale F, Lindstrom J.
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| J Neurosci 17(23):9035-47. 1997
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| 21 | CHRNA4
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| Exon-intron structure of the human neuronal nicotinic acetylcholine receptor alpha4 subunit (CHRNA4).
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| Steinlein O, et al.
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| Genomics 32 : 289-294. 1996
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| 22 | ENFL1, CHRNA4
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| Alternative mechanism for pathogenesis of an inherited epilepsy by a nicotinic AChR mutation.
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| Forman SA, et al.
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| Nat Genet 13 : 396-397. 1996
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| 23 | CHRNA4
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| Dinucleotide polymorphism in the first intron of the human neuronal nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4).
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| Weiland S, et al.
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| Clin Genet 50 : 433-434. 1996
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| 24 | 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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| 25 | ENFL1, CHRNA4
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| A missense mutation in the neuronal nicotinic acetylcholine receptor alpha4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.
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| Steinlein OK, et al.
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| Nat Genet 11 : 201-203. 1995
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| 26 | 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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| 27 | CHRNA4
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| Detection of a Cfol polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor alpha4 subunit gene (CHRNA4).
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| Steinlein O.
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| Hum Genet 96 : 130. 1995
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| 28 | CHRNA4, EBN1
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| Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3.
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| Steinlein O, et al.
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| Genomics 22 : 493-495. 1994
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| 29 | 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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| 30 | PCK1, CHRNA4
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| The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor alpha4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2.
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| Pilz AJ, et al.
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| Ann Hum Genet 56 : 289-293. 1992
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| 31 | 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
|