| 1 | CMS20, SLC5A7
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| Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea.
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| Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S.
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| Am J Hum Genet 99(3):753-61. doi: 10.1016/j.ajhg.2016.06.033. Epub 2016 Aug 25.
2016
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| 2 | NCAPD3, SLC3A2, SLC5A7
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| Chromosome-associated protein D3 promotes bacterial clearance in human intestinal epithelial cells by repressing expression of amino acid transporters.
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| Schuster AT, Homer CR, Kemp JR, Nickerson KP, Deutschman E, Kim Y, West G, Sadler T, Stylianou E, Krokowski D, Hatzoglou M, de la Motte C, Rubin BP, Fiocchi C, McDonald C, Longworth MS.
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| Gastroenterology 148(7):1405-1416.e3. doi: 10.1053/j.gastro.2015.02.013. Epub 2015 Feb 18.
2015
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| 3 | SLC5A7
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| Defective presynaptic choline transport underlies hereditary motor neuropathy.
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| Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH.
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| Am J Hum Genet 91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8.
2012
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| 4 | NEDD4L, SLC5A7
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| The high-affinity choline transporter CHT1 is regulated by the ubiquitin ligase Nedd4-2.
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| Yamada H, Imajoh-Ohmi S, Haga T.
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| Biomed Res 33(1):1-8.
2012
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| 5 | DHMN7A, SLC5A7
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| Defective presynaptic choline transport underlies hereditary motor neuropathy.
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| Barwick KE, Wright J, Al-Turki S, McEntagart MM, Nair A, Chioza B, Al-Memar A, Modarres H, Reilly MM, Dick KJ, Ruggiero AM, Blakely RD, Hurles ME, Crosby AH.
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| Am J Hum Genet 91(6):1103-7. doi: 10.1016/j.ajhg.2012.09.019. Epub 2012 Nov 8.
2012
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| 6 | SLC5A7
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| Nuclear choline acetyltransferase activates transcription of a high-affinity choline transporter.
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| Matsuo A, Bellier JP, Nishimura M, Yasuhara O, Saito N, Kimura H.
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| J Biol Chem 286(7):5836-45. doi: 10.1074/jbc.M110.147611. Epub 2010 Dec 16.
2011
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| 7 | SLC5A7
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| Aberrant trafficking of the high-affinity choline transporter in AP-3-deficient mice.
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| Misawa H, Fujigaya H, Nishimura T, Moriwaki Y, Okuda T, Kawashima K, Nakata K, Ruggiero AM, Blakely RD, Nakatsu F, Ohno H.
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| Eur J Neurosci 27(12):3109-17. doi: 10.1111/j.1460-9568.2008.06268.x. Epub 2008 Jun 1.
2008
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| 8 | SLC5A7
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| Human choline transporter gene variation is associated with corticolimbic reactivity and autonomic-cholinergic function.
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| Neumann SA, Brown SM, Ferrell RE, Flory JD, Manuck SB, Hariri AR.
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| Biol Psychiatry 60(10):1155-62. Epub 2006 Jul 28. Erratum in: Biol Psychiatry. 2007 Feb 1;61(3):424.
2006
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| 9 | SLC5A7
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| Heart rate variability is associated with polymorphic variation in the choline transporter gene.
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| Neumann SA, Lawrence EC, Jennings JR, Ferrell RE, Manuck SB.
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| Psychosom Med 67(2):168-71.
2005
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| 10 | SLC5A7
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| Expression of the high-affinity choline transporter CHT1 in epithelia.
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| Pfeil U, Haberberger RV, Lips KS, Eberling L, Grau V, Kummer W.
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| Life Sci 72(18-19):2087-90.
2003
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| 11 | SLC5A7
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| Functional characterization of the human high-affinity choline transporter.
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| Okuda T, Haga T.
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| FEBS Lett 484(2):92-7. 2000
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| 12 | SLC5A7
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| Molecular cloning of a human, hemicholinium-3-sensitive choline transporter.
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| Apparsundaram S, Ferguson SM, George AL Jr, Blakely RD.
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| Biochem Biophys Res Commun 276(3):862-7. 2000
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