| 1 | CHAT, DEL10Q11, SLC18A3
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| Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats.
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| Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, Summar M, Lee B, Scaglia F, Fellmann F, Martinet D, Beckmann JS, Asamoah A, Platky K, Sparks S, Martin AS, Madan-Khetarpal S, Hoover J, Medne L, Bonnemann CG, Moeschler JB, Vallee SE, Parikh S, Irwin P, Dalzell VP, Smith WE, Banks VC, Flannery DB, Lovell CM, Bellus GA, Golden-Grant K, Gorski JL, Kussmann JL, McGregor TL, Hamid R, Pfotenhauer J, Ballif BC, Shaw CA, Kang SH, Bacino CA, Patel A, Rosenfeld JA, Cheung SW, Shaffer LG.
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| Hum Mutat 33(1):165-79. doi: 10.1002/humu.21614. Epub 2011 Nov 2. 2012
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| 2 | CHAT
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| Subcellular distribution of choline acetyltransferase by immunogold electron microscopy in non-neuronal cells: placenta, airways and murine embryonic stem cells.
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| Wessler I, Michel-Schmidt R, Brochhausen C, Kirkpatrick CJ.
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| Life Sci 91(21-22):977-80. doi: 10.1016/j.lfs.2012.05.012. Epub 2012 Jun 6.
2012
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| 3 | CHAT
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| Choline acetyltransferase 2384G>a polymorphism and the risk of Alzheimer disease.
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| Lee JJ, Jo SA, Park JH, Lee SB, Jo I, Kim do K, Huh Y, Youn JC, Jhoo JH, Park KU, Park SS, Lee DY, Woo JI, Kim KW.
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| Alzheimer Dis Assoc Disord 26(1):81-7. doi: 10.1097/WAD.0b013e31821cbcaf.
2012
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| 4 | CHAT, CMS6
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| Functional consequences and structural interpretation of mutations of human choline acetyltransferase.
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| Shen XM, Crawford TO, Brengman J, Acsadi G, Iannaconne S, Karaca E, Khoury C, Mah JK, Edvardson S, Bajzer Z, Rodgers D, Engel AG.
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| Hum Mutat 32(11):1259-67. doi: 10.1002/humu.21560. Epub 2011 Sep 23. 2011
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| 5 | CHAT
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| Involvement of histone acetylation in the regulation of choline acetyltransferase gene in NG108-15 neuronal cells.
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| Aizawa S, Yamamuro Y.
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| Neurochem Int 56(4):627-33. doi: 10.1016/j.neuint.2010.01.007. Epub 2010 Jan 25.
2010
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| 6 | CHAT
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| Choline acetyltransferase activity in vascular dementia and stroke.
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| Sharp SI, Francis PT, Elliott MS, Kalaria RN, Bajic N, Hortobagyi T, Ballard CG.
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| Dement Geriatr Cogn Disord 28(3):233-8. doi: 10.1159/000239235. Epub 2009 Sep 17.
2009
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| 7 | CHAT
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| Evaluation of choline acetyltransferase gene polymorphism (2384 G/A) in Alzheimer's disease and mild cognitive impairment.
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| Tang M, Rao D, Ma C, Guo Y, Han H, Ling K, Ling Y.
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| Dement Geriatr Cogn Disord 26(1):9-14. doi: 10.1159/000140612. Epub 2008 Jun 19.
2008
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| 8 | CALB2, CHAT
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| The fate of the large striatal interneurons expressing calretinin in Huntington's disease.
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| Massouh M, Wallman MJ, Pourcher E, Parent A.
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| Neurosci Res 62(4):216-24. doi: 10.1016/j.neures.2008.08.007. Epub 2008 Aug 30. 2008
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| 9 | CHAT
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| Substrate binding and catalytic mechanism of human choline acetyltransferase.
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| Kim AR, Rylett RJ, Shilton BH.
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| Biochemistry 45(49):14621-31. 2006
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| 10 | CHAT
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| Substrate binding and catalytic mechanism of human choline acetyltransferase.
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| Kim AR, Rylett RJ, Shilton BH.
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| Biochemistry 45(49):14621-31.
2006
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| 11 | CHAT
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| Genetic variation in the choline acetyltransferase (CHAT) gene may be associated with the risk of Alzheimer's disease.
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| Ozturk A, DeKosky ST, Kamboh MI.
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| Neurobiol Aging 27(10):1440-4. Epub 2005 Oct 11.
2006
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| 12 | CHAT, CHRNB1, CMS2B, CMS6
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| Congenital myasthenic syndromes.
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| Harper CM.
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| Semin Neurol 24(1):111-23. Review. 2004
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| 13 | CHAT
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| Protein kinase C isoforms differentially phosphorylate human choline acetyltransferase regulating its catalytic activity.
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| Dobransky T, Doherty-Kirby A, Kim AR, Brewer D, Lajoie G, Rylett RJ.
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| J Biol Chem 279(50):52059-68. Epub 2004 Sep 20. 2004
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| 14 | CHAT, CMS6
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| Congenital myasthenic syndrome with episodic apnea in patients homozygous for a CHAT missense mutation.
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| Kraner S, Laufenberg I, Strassburg HM, Sieb JP, Steinlein OK.
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| Arch Neurol 60(5):761-3. 2003
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| 15 | CHAT, CMS6
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| Congenital myasthenic syndromes: multiple molecular targets at the neuromuscular junction.
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| Engel AG, Ohno K, Shen XM, Sine SM.
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| Ann N Y Acad Sci 998:138-60. Review. 2003
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| 16 | CHAT, CMS6
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| Choline acetyltransferase mutations cause myasthenic syndrome associated with episodic apnea in humans.
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| Ohno K, Tsujino A, Brengman JM, Harper CM, Bajzer Z, Udd B, Beyring R, Robb S, Kirkham FJ, Engel AG.
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| Proc Natl Acad Sci U S A 98(4):2017-22. 2001
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| 17 | CHAT
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| Nuclear localization of the 82-kDa form of human choline acetyltransferase.
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| Resendes MC, et al.
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| J Biol Chem 274(27):19417-21 1999
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| 18 | CHAT
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| Mapping of the familial infantile myasthenia (congenital myasthenic syndrome type Ia) gene to chromosome 17p with evidence of genetic homogeneity.
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| Christodoulou K, Tsingis M, Deymeer F, Serdaroglu P, Ozdemir C, Al-Shehab A, Bairactaris C, Mavromatis I, Mylonas I, Evoli A, Kyriallis K, Middleton LT.
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| Hum Mol Genet 6 : 635-640. 1997
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| 19 | CHAT
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| Human choline acetyltransferase gene: localization of alternative first exons.
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| Chireux MA, Le Van Thai A, Weber MJ.
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| J Neurosci Res 40(4):427-38. 1995
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| 20 | CHAT, SLC18A3
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| Functional identification of a vesicular acetylcholine transporter and its expression from a cholinergic gene locus.
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| Erickson JD, Varoqui H, Schafer MK, Modi W, Diebler MF, Weihe E, Rand J, Eiden LE, Bonner TI, Usdin TB.
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| J Biol Chem 269 : 21929-21932. 1994
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| 21 | CHAT
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| Human choline acetyltransferase (CHAT) : partial gene sequence and potential control regions.
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| Toussaint JL, Geoffroy V, Schmitt M, Werner A, Garnier JM, Simoni P, Kempf J
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| Genomics 12 : 412-416. 1992
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| 22 | CHAT
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| Gene expression of mouse choline acetyltransferase. Alternative splicing and identification of a highly active promoter region.
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| Misawa H, Ishii K, Deguchi T.
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| J Biol Chem 267(28):20392-9. 1992
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| 23 | CHAT
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| Localization of a 900-bp-long fragment of the human choline acetyltransferase gene to 10q11.2 by nonradioactive in situ hybridization.
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| Viegas-Pequignot E, Berrard S, Brice A, Apiou F, Mallet J.
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| Genomics 9 : 210-212. 1991
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| 24 | CHAT
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| Human choline acetyltransferase gene maps to region 10q11-q22.2 by in situ hybridization.
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| Strauss WL, Kemper RR, Jayakar P, Kong CF, Hersh LB, Hilt DC, Rabin M.
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| Genomics 9 : 396-398. 1991
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| 25 | CHAT
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| Localization of the choline acetyltransferase (CHAT) gene to human chromosome 10.
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| Cohen-Haguenauer O, Brice A, Berrard S, Nguyen VC, Mallet J, Frezal J.
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| Genomics 6 : 374-378. 1990
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