| 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 | SLC18A3
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| Dysautonomia due to reduced cholinergic neurotransmission causes cardiac remodeling and heart failure.
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| Lara A, Damasceno DD, Pires R, Gros R, Gomes ER, Gavioli M, Lima RF, Guimarães D, Lima P, Bueno CR Jr, Vasconcelos A, Roman-Campos D, Menezes CA, Sirvente RA, Salemi VM, Mady C, Caron MG, Ferreira AJ, Brum PC, Resende RR, Cruz JS, Gomez MV, Prado VF, de Almeida AP, Prado MA, Guatimosim S.
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| Mol Cell Biol 30(7):1746-56. Epub 2010 Feb 1.
2010
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| 3 | SLC18A3
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| Vesicular acetylcholine transporter (VAChT) in the brain of spontaneously hypertensive rats (SHR): effect of treatment with an acetylcholinesterase inhibitor.
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| Tayebati SK, Di Tullio MA, Amenta F.
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| Clin Exp Hypertens 30(8):732-43.PMID: 19021024 2008
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| 4 | SLC18A3
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| Dileucine motif is sufficient for internalization and synaptic vesicle targeting of vesicular acetylcholine transporter.
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| Colgan L, Liu H, Huang SY, Liu YJ.
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| Traffic 8(5):512-22.PMID: 17451554 2007
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| 5 | SLC18A3
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| The vesicular acetylcholine transporter is present in melanocytes and keratinocytes in the human epidermis.
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| Elwary SM, Chavan B, Schallreuter KU.
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| J Invest Dermatol 126(8):1879-84. Epub 2006 Jun 8.PMID: 16763548 2006
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| 6 | SLC18A3
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| Postnatal development of cholinergic neurons in the mesopontine tegmentum revealed by histochemistry.
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| Ninomiya Y, Kayama Y, Koyama Y.
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| Int J Dev Neurosci 23(8):711-21. Epub 2005 Nov 9.PMID: 16289640 2005
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| 7 | SLC18A3
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| Structural requirements for steady-state localization of the vesicular acetylcholine transporter.
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| Ferreira LT, Santos MS, Kolmakova NG, Koenen J, Barbosa J Jr, Gomez MV, Guatimosim C, Zhang X, Parsons SM, Prado VF, Prado MA.
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| J Neurochem 94(4):957-69.PMID: 16092939 2005
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| 8 | SLC18A3
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| Active transport of acetylcholine by the human vesicular acetylcholine transporter.
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| Varoqui H, Erickson JD.
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| J Biol Chem 271(44):27229-32.PMID: 8910293 1996
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| 9 | 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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