| 1 | SLC6A3
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| The SLC6A3 gene polymorphism is related to the development of attentional functions but not to ADHD.
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| Kuc K, Bielecki M, Racicka-Pawlukiewicz E, Czerwinski MB, Cybulska-Klosowicz A.
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| Sci Rep 10(1):6176. doi: 10.1038/s41598-020-63296-x.
2020
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| 2 | PKDYS1, SLC6A3
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| Homozygous in-frame variant of SCL6A3 causes dopamine transporter deficiency syndrome in a consanguineous family.
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| Heidari E, Razmara E, Hosseinpour S, Tavasoli AR, Garshasbi M.
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| Ann Hum Genet nn Hum Genet. 2020 Feb 20. doi: 10.1111/ahg.12378. [Epub ahead of print]
2020
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| 3 | SLC6A3
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| Dopamine transporter genotype modulates brain activity during a working memory task in children with ADHD.
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| Pineau G, Villemonteix T, Slama H, Kavec M, Balériaux D, Metens T, Baijot S, Mary A, Ramoz N, Gorwood P, Peigneux P, Massat I.
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| Res Dev Disabil 92:103430. doi: 10.1016/j.ridd.2019.103430. Epub 2019 Jul 12.
2019
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| 4 | SLC6A3
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| Structural, functional, and behavioral insights of dopamine dysfunction revealed by a deletion in SLC6A3.
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| Campbell NG, Shekar A, Aguilar JI, Peng D, Navratna V, Yang D, Morley AN, Duran AM, Galli G, O'Grady B, Ramachandran R, Sutcliffe JS, Sitte HH, Erreger K, Meiler J, Stockner T, Bellan LM, Matthies HJG, Gouaux E, Mchaourab HS, Galli A.
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| Proc Natl Acad Sci U S A 116(9):3853-3862. doi: 10.1073/pnas.1816247116. Epub 2019 Feb 12.
2019
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| 5 | SLC6A3
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| Dopamine transporter forms stable dimers in the live cell plasma membrane in a phosphatidylinositol 4,5-bisphosphate-independent manner.
|
| Das AK, Kudlacek O, Baumgart F, Jaentsch K, Stockner T, Sitte HH, Schütz GJ.
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| J Biol Chem 294(14):5632-5642. doi: 10.1074/jbc.RA118.006178. Epub 2019 Jan 31.
2019
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| 6 | SLC6A3
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| Dopamine transporter (DAT) knockdown in the nucleus accumbens improves anxiety- and depression-related behaviors in adult mice.
|
| Bahi A, Dreyer JL.
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| Behav Brain Res 359:104-115. doi: 10.1016/j.bbr.2018.10.028. Epub 2018 Oct 24.
2019
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| 7 | SLC6A3
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| Intragenic Transcriptional cis-Antagonism Across SLC6A3.
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| Zhao Y, Yu J, Zhao J, Chen X, Xiong N, Wang T, Qing H, Lin Z.
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| Mol Neurobiol 56(6):4051-4060. doi: 10.1007/s12035-018-1357-5. Epub 2018 Sep 27.
2019
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| 8 | NR4A2, SLC18A1, SLC6A3, TH
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| Lethal Factor Domain-Mediated Delivery of Nurr1 Transcription Factor Enhances Tyrosine Hydroxylase Activity and Protects from Neurotoxin-Induced Degeneration of Dopaminergic Cells.
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| Paliga D, Raudzus F, Leppla SH, Heumann R, Neumann S.
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| Mol Neurobiol 56(5):3393-3403. doi: 10.1007/s12035-018-1311-6. Epub 2018 Aug 18.
2019
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| 9 | SLC6A3
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| Dedifferentiation of caudate functional connectivity and striatal dopamine transporter density predict memory change in normal aging.
|
| Rieckmann A, Johnson KA, Sperling RA, Buckner RL, Hedden T.
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| Proc Natl Acad Sci U S A 115(40):10160-10165. doi: 10.1073/pnas.1804641115. Epub 2018 Sep 17.
2018
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| 10 | SLC6A3
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| Methylation of the dopamine transporter gene in blood is associated with striatal dopamine transporter availability in ADHD: A preliminary study.
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| Wiers CE, Lohoff FW, Lee J, Muench C, Freeman C, Zehra A, Marenco S, Lipska BK, Auluck PK, Feng N, Sun H, Goldman D, Swanson JM, Wang GJ, Volkow ND.
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| Eur J Neurosci 48(3):1884-1895. doi: 10.1111/ejn.14067.
2018
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| 11 | SLC6A3
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| Methylation changes and pathways affected in preterm birth: a role for SLC6A3 in neurodevelopment.
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| Arpón A, Milagro FI, Laja A, Segura V, de Pipaón MS, Riezu-Boj JI, Alfredo Martínez J.
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| Epigenomics 10(1):91-103. doi: 10.2217/epi-2017-0082. Epub 2017 Nov 27.
2018
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| 12 | SLC6A3, SNAPIN
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| Structural and Functional Characterization of the Interaction of Snapin with the Dopamine Transporter: Differential Modulation of Psychostimulant Actions.
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| Erdozain AM, De Gois S, Bernard V, Gorgievski V, Pietrancosta N, Dumas S, Macedo CE, Vanhoutte P, Ortega JE, Meana JJ, Tzavara ET, Vialou V, Giros B.
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| Neuropsychopharmacology 43(5):1041-1051. doi: 10.1038/npp.2017.217. Epub 2017 Sep 14.
2018
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| 13 | PKDYS1, SLC6A3
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| Hereditary Dopamine Transporter Deficiency Syndrome: Challenges in Diagnosis and Treatment.
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| Yildiz Y, Pektas E, Tokatli A, Haliloglu G.
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| Neuropediatrics 48(1):49-52. doi: 10.1055/s-0036-1593372. Epub 2016 Sep 30.
2017
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| 14 | SLC6A3
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| Targeting of dopamine transporter to filopodia requires an outward-facing conformation of the transporter.
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| Ma S, Cheng MH, Guthrie DA, Newman AH, Bahar I, Sorkin A.
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| Sci Rep 7(1):5399. doi: 10.1038/s41598-017-05637-x.
2017
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| 15 | SLC6A3
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| Chronic oral methylphenidate treatment reversibly increases striatal dopamine transporter and dopamine type 1 receptor binding in rats.
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| Robison LS, Ananth M, Hadjiargyrou M, Komatsu DE, Thanos PK.
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| J Neural Transm (Vienna) 124(5):655-667. doi: 10.1007/s00702-017-1680-4. Epub 2017 Jan 23.
2017
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| 16 | SLC6A3
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| Characterization of VNTRs Within the Entire Region of SLC6A3 and Its Association with Hypertension.
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| Kim WT, Lee SR, Roh YG, Kim SI, Choi YH, Mun MH, Jeong MS, Koh SS, Leem SH.
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| DNA Cell Biol 36(3):227-236. doi: 10.1089/dna.2016.3448. Epub 2017 Jan 5.
2017
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| 17 | SLC6A3
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| Overexpression of Functional SLC6A3 in Clear Cell Renal Cell Carcinoma.
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| Hansson J, Lindgren D, Nilsson H, Johansson E, Johansson M, Gustavsson L, Axelson H.
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| Clin Cancer Res 23(8):2105-2115. doi: 10.1158/1078-0432.CCR-16-0496. Epub 2016 Sep 23.
2017
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| 18 | SLC6A3, TH
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| Regulation of Tyrosine Hydroxylase Expression and Phosphorylation in Dopamine Transporter-Deficient Mice.
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| Salvatore MF, Calipari ES, Jones SR.
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| ACS Chem Neurosci 7(7):941-51. doi: 10.1021/acschemneuro.6b00064. Epub 2016 May 10.
2016
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| 19 | SLC6A3
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| Identification of the dopamine transporter SLC6A3 as a biomarker for patients with renal cell carcinoma.
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| Schrödter S, Braun M, Syring I, Klümper N, Deng M, Schmidt D, Perner S, Müller SC, Ellinger J.
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| Mol Cancer 15:10. doi: 10.1186/s12943-016-0495-5.
2016
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| 20 | DAT1, SLC6A3
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| DAT1 and DRD4 genes involved in key dimensions of adult ADHD.
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| Hasler R, Salzmann A, Bolzan T, Zimmermann J, Baud P, Giannakopoulos P, Perroud N.
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| Neurol Sci 36(6):861-9. doi: 10.1007/s10072-014-2051-7. Epub 2015 Jan 3.
2015
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| 21 | SLC6A3
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| Dual Action of Zn2+ on the Transport Cycle of the Dopamine Transporter.
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| Li Y, Hasenhuetl PS, Schicker K, Sitte HH, Freissmuth M, Sandtner W.
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| J Biol Chem 290(52):31069-76. doi: 10.1074/jbc.M115.688275. Epub 2015 Oct 26.
2015
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| 22 | PARK7, SLC6A3
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| A Physical Interaction between the Dopamine Transporter and DJ-1 Facilitates Increased Dopamine Reuptake.
|
| Luk B, Mohammed M, Liu F, Lee FJ.
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| PLoS One 10(8):e0136641. doi: 10.1371/journal.pone.0136641. eCollection 2015.
2015
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| 23 | PKDYS1, SLC6A3
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| Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
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| Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA.
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| Brain 137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10.
2014
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| 24 | PKDYS1, SLC6A3
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| Missense dopamine transporter mutations associate with adult parkinsonism and ADHD.
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| Hansen FH, Skjørringe T, Yasmeen S, Arends NV, Sahai MA, Erreger K, Andreassen TF, Holy M, Hamilton PJ, Neergheen V, Karlsborg M, Newman AH, Pope S, Heales SJ, Friberg L, Law I, Pinborg LH, Sitte HH, Loland C, Shi L, Weinstein H, Galli A, Hjermind LE, Møller LB, Gether U.
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| J Clin Invest 124(7):3107-20. doi: 10.1172/JCI73778. Epub 2014 Jun 9.
2014
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| 25 | SLC6A3
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| N-terminal tagging of the dopamine transporter impairs protein expression and trafficking in vivo.
|
| Vecchio LM, Bermejo MK, Beerepoot P, Ramsey AJ, Salahpour A.
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| Mol Cell Neurosci 61:123-32. doi: 10.1016/j.mcn.2014.05.007. Epub 2014 Jun 2.
2014
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| 26 | PKDYS1, SLC6A3
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| Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood.
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| Ng J, Zhen J, Meyer E, Erreger K, Li Y, Kakar N, Ahmad J, Thiele H, Kubisch C, Rider NL, Morton DH, Strauss KA, Puffenberger EG, D'Agnano D, Anikster Y, Carducci C, Hyland K, Rotstein M, Leuzzi V, Borck G, Reith ME, Kurian MA.
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| Brain 137(Pt 4):1107-19. doi: 10.1093/brain/awu022. Epub 2014 Mar 10.
2014
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| 27 | SLC6A3
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| Human dopamine transporter gene: differential regulation of 18-kb haplotypes.
|
| Zhao Y, Xiong N, Liu Y, Zhou Y, Li N, Qing H, Lin Z.
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| Pharmacogenomics 14(12):1481-94. doi: 10.2217/pgs.13.141.
2013
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| 28 | SLC6A3
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| A C-terminal PDZ domain-binding sequence is required for striatal distribution of the dopamine transporter.
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| Rickhag M, Hansen FH, Sørensen G, Strandfelt KN, Andresen B, Gotfryd K, Madsen KL, Vestergaard-Klewe I, Ammendrup-Johnsen I, Eriksen J, Newman AH, Füchtbauer EM, Gomeza J, Woldbye DP, Wörtwein G, Gether U.
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| Nat Commun 4:1580. doi: 10.1038/ncomms2568. Erratum in: Nat Commun. 2013;4:2589.
2013
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| 29 | LMX1A, SLC6A3
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| Lmx1a regulates dopamine transporter gene expression during ES cell differentiation and mouse embryonic development.
|
| Chung S, Kim CH, Kim KS.
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| J Neurochem 122(2):244-50. doi: 10.1111/j.1471-4159.2012.07779.x. Epub 2012 May 23. 2012
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| 30 | SLC6A3
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| Cortico-subcortical neuromodulation involved in the amelioration of prepulse inhibition deficits in dopamine transporter knockout mice.
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| Arime Y, Kasahara Y, Hall FS, Uhl GR, Sora I.
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| Neuropsychopharmacology 37(11):2522-30. doi: 10.1038/npp.2012.114. Epub 2012 Jul 11.
2012
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| 31 | SLC6A3
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| Centrosomal aggregates and Golgi fragmentation disrupt vesicular trafficking of DAT.
|
| Diaz-Corrales FJ, Miyazaki I, Asanuma M, Ruano D, Rios RM.
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| Neurobiol Aging 33(10):2462-77. doi: 10.1016/j.neurobiolaging.2011.11.014. Epub 2011 Dec 16.
2012
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| 32 | SLC6A2, SLC6A3
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| Site-directed mutations near transmembrane domain 1 alter conformation and function of norepinephrine and dopamine transporters.
|
| Guptaroy B, Fraser R, Desai A, Zhang M, Gnegy ME.
|
| Mol Pharmacol 79(3):520-32. Epub 2010 Dec 13.
2011
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| 33 | SCAMP2, SCAMP5, SLC6A2, SLC6A3, SLC6A4
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| Modulation of the dopamine transporter by interaction with Secretory Carrier Membrane Protein 2.
|
| Fjorback AW, Müller HK, Haase J, Raarup MK, Wiborg O.
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| Biochem Biophys Res Commun 406(2):165-70. Epub 2011 Feb 3.
2011
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| 34 | HEY1, HEY2, HEYL, SLC6A3
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| Differential effects of the HESR/HEY transcription factor family on dopamine transporter reporter gene expression via variable number of tandem repeats.
|
| Kanno K, Ishiura S.
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| J Neurosci Res 89(4):562-75. doi: 10.1002/jnr.22593. Epub 2011 Feb 2.
2011
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| 35 | PKDYS1, SLC6A3
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| Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.
|
| Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, Hoffmann GF, Jardine P, von Moers A, Mordekar SR, O'Callaghan F, Wassmer E, Wraige E, Dietrich C, Lewis T, Hyland K, Heales S Jr, Sanger T, Gissen P, Assmann BE, Reith ME, Maher ER.
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| Lancet Neurol 10(1):54-62. doi: 10.1016/S1474-4422(10)70269-6. Epub 2010 Nov 25.
2011
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| 36 | SLC6A2, SLC6A3
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| Expression and function of variants of human catecholamine transporters lacking the fifth transmembrane region encoded by exon 6.
|
| Sogawa C, Mitsuhata C, Kumagai-Morioka K, Sogawa N, Ohyama K, Morita K, Kozai K, Dohi T, Kitayama S.
|
| PLoS One 5(8):e11945.
2010
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| 37 | MAOA, SLC6A3, SLC6A3
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| Association of MAOA, 5-HTT, and NET promoter polymorphisms with gene expression and protein activity in human placentas.
|
| Zhang H, Smith GN, Liu X, Holden JJ.
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| Physiol Genomics 42(1):85-92. Epub 2010 Mar 23.
2010
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| 38 | COMT, SLC6A3
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| Variation in dopamine genes influences responsivity of the human reward system.
|
| Dreher JC, Kohn P, Kolachana B, Weinberger DR, Berman KF.
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| Proc Natl Acad Sci U S A 106(2):617-22. Epub 2008 Dec 22.
2009
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| 39 | DBH, SLC6A3
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| New genetic evidence for involvement of the dopamine system in migraine with aura.
|
| Todt U, Netzer C, Toliat M, Heinze A, Goebel I, Nürnberg P, Göbel H, Freudenberg J, Kubisch C.
|
| Hum Genet 125(3):265-79. Epub 2009 Jan 17.
2009
|
| 40 | ADRA2A, CHRNA4, DRD4, DRD5, SLC6A3, SNAP25
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| Candidate gene studies of ADHD: a meta-analytic review.
|
| Gizer IR, Ficks C, Waldman ID.
|
| Hum Genet 126(1):51-90. Epub 2009 Jun 9. Review. 2009
|
| 41 | ADHD, CHD13, SLC6A3
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| Genome-wide association studies in ADHD.
|
| Franke B, Neale BM, Faraone SV.
|
| Hum Genet 126(1):13-50. Epub 2009 Apr 22. Review. 2009
|
| 42 | PKDYS1, SLC6A3
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| Homozygous loss-of-function mutations in the gene encoding the dopamine transporter are associated with infantile parkinsonism-dystonia.
|
| Kurian MA, Zhen J, Cheng SY, Li Y, Mordekar SR, Jardine P, Morgan NV, Meyer E, Tee L, Pasha S, Wassmer E, Heales SJ, Gissen P, Reith ME, Maher ER.
|
| J Clin Invest 119(6):1595-603. doi: 10.1172/JCI39060. Epub 2009 May 26.
2009
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| 43 | AHRR, BRD9, CEP72, CLPTM1L, EXOC3, SLC6A3, SLC9A3, TPPP, TRIP13, ZDHHC11
|
| Gain at chromosomal region 5p15.33, containing TERT, is the most frequent genetic event in early stages of non-small cell lung cancer.
|
| Kang JU, Koo SH, Kwon KC, Park JW, Kim JM.
|
| Cancer Genet Cytogenet 182(1):1-11.PMID: 18328944 2008
|
| 44 | ADHD, COMT, DRD4, SLC6A3
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| An exploratory study of the relationship between four candidate genes and neurocognitive performance in adult ADHD.
|
| Boonstra AM, Kooij JJ, Buitelaar JK, Oosterlaan J, Sergeant JA, Heister JG, Franke B.
|
| Am J Med Genet B Neuropsychiatr Genet [Epub ahead of print] 2007
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| 45 | SLC6A3
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| Mechanism of chloride interaction with neurotransmitter:sodium symporters.
|
| Zomot E, Bendahan A, Quick M, Zhao Y, Javitch JA, Kanner BI.
|
| Nature 449(7163):726-30. Epub 2007 Aug 19. 2007
|
| 46 | SLC6A3
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| Relationship between VNTR polymorphisms of the human dopamine transporter gene and expression in post-mortem midbrain tissue.
|
| Brookes KJ, Neale BM, Sugden K, Khan N, Asherson P, D'Souza UM.
|
| Am J Med Genet B Neuropsychiatr Genet 144(8):1070-8. 2007
|
| 47 | SLC6A3
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| Dopaminergic candidate genes in Tourette syndrome: association between tic severity and 3' UTR polymorphism of the dopamine transporter gene.
|
| Tarnok Z, Ronai Z, Gervai J, Kereszturi E, Gadoros J, Sasvari-Szekely M, Nemoda Z.
|
| Am J Med Genet B Neuropsychiatr Genet 144(7):900-5. 2007
|
| 48 | SLC6A3
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| A dopamine transporter gene functional variant associated with cocaine abuse in a Brazilian sample.
|
| Guindalini C, Howard M, Haddley K, Laranjeira R, Collier D, Ammar N, Craig I, O'Gara C, Bubb VJ, Greenwood T, Kelsoe J, Asherson P, Murray RM, Castelo A, Quinn JP, Vallada H, Breen G.
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| Proc Natl Acad Sci U S A 103(12):4552-7. Epub 2006 Mar 14. 2006
|
| 49 | SLC6A3
|
| 5' and 3' region variability in the dopamine transporter gene (SLC6A3), pesticide exposure and Parkinson's disease risk: a hypothesis-generating study.
|
| Kelada SN, Checkoway H, Kardia SL, Carlson CS, Costa-Mallen P, Eaton DL, Firestone J, Powers KM, Swanson PD, Franklin GM, Longstreth WT Jr, Weller TS, Afsharinejad Z, Costa LG.
|
| Hum Mol Genet 15(20):3055-62. Epub 2006 Sep 8. 2006
|
| 50 | ADHD, DRD4, DRD5, SLC6A3, SLC6A4, SNAP25
|
| The genetics of attention deficit hyperactivity disorder.
|
| Thapar A, O'Donovan M, Owen MJ.
|
| Hum Mol Genet 14 Spec No. 2:R275-82. 2005
|
| 51 | ADHD, DBH, DRD4, DRD5, HTR1B, SLC6A3, SNAP25, TPH2
|
| Preferential transmission of paternal alleles at risk genes in attention-deficit/hyperactivity disorder.
|
| Hawi Z, Segurado R, Conroy J, Sheehan K, Lowe N, Kirley A, Shields D, Fitzgerald M, Gallagher L, Gill M.
|
| Am J Hum Genet 77(6):958-65. Epub 2005 Oct 26. 2005
|
| 52 | COMT, HT2A, DRD2, DRD4, SLC6A3
|
| Genetics and epigenetics in major psychiatric disorders: dilemmas, achievements, applications, and future scope.
|
| Abdolmaleky HM, Thiagalingam S, Wilcox M.
|
| Am J Pharmacogenomics 5(3):149-60. Review. 2005
|
| 53 | SLC6A3
|
| Promoter and intronic variants affect the transcriptional regulation of the human dopamine transporter gene.
|
| Greenwood TA, Kelsoe JR.
|
| Genomics 82(5):511-20. 2003
|
| 54 | SLC6A3
|
| Evidence for linkage disequilibrium between the dopamine transporter and bipolar disorder.
|
| Greenwood TA, Alexander M, Keck PE, McElroy S, Sadovnick AD, Remick RA, Kelsoe JR.
|
| Am J Med Genet 105(2):145-51. 2001
|
| 55 | SLC6A3
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| Characterization of the 5'-flanking region of the human dopamine transporter gene.
|
| Sacchetti P, Brownschidle LA, Granneman JG, Bannon MJ.
|
| Brain Res Mol Brain Res 74(1-2):167-74. 1999
|
| 56 | ADHD, ADHD1, SLC6A3
|
| Association and linkage of the dopamine transporter gene and attention-deficit hyperactivity disorder in children : heterogeneity owing to diagnostic subtype and severity.
|
| Waldman ID, et al.
|
| Am J Hum Genet 63 : 1767-1776. 1998
|
| 57 | SLC6A3
|
| Structure and organization of the gene encoding human dopamine transporter.
|
| Kawarai T, Kawakami H, Yamamura Y, Nakamura S.
|
| Gene 195(1):11-8. 1997
|
| 58 | SCZD1, SLC6A3
|
| Genotypic association between dopamine transporter gene polymorphisms and schizophrenia.
|
| Persico AM, et al.
|
| Am J Med Genet 74 : 53-57. 1997
|
| 59 | DRD2, DRD3, SLC6A3, TH
|
| Association study of bipolar disorder with candidate genes involved in catecholamine neurotransmission : DRD2,DRD3,DAT1, and TH genes.
|
| Souery D, et al.
|
| Am J Med Genet 67 : 551-555. 1996
|
| 60 | SLC6A3
|
| Possible locus for bipolar disorder near the dopamine transporter on chromosome 5.
|
| Kelsoe JR, et al.
|
| Am J Med Genet 67 : 533-540. 1996
|
| 61 | SLC6A3
|
| The dopamine transporter protein gene (SLC6A3) : primary linkage mapping and linkage studies in Tourette syndrome.
|
| Gelernter J, et al.
|
| Genomics 30 : 459-463. 1995
|
| 62 | ADHD, ADHD1, SLC6A3
|
| Association of attention-deficit disorder and the dopamine transporter gene.
|
| Cook EH, et al.
|
| Am J Hum Genet 56 : 993-998. 1995
|
| 63 | SLC6A3
|
| VNTR polymorphism for the human dopamine transporter gene (DAT1).
|
| Byerley W, et al.
|
| Hum Mol Genet 2 : 335. 1993
|
| 64 | SLC6A3
|
| A 40-nucleotide repeat polymorphism in the human dopamine transporter gene.
|
| Sano A, et al.
|
| Hum Genet 91 : 405-406. 1993
|
| 65 | SLC6A3
|
| Human dopamine transporter gene (DAT1) maps to chromosome 5p15.3 and displays a VNTR.
|
| Vandenbergh DJ, et al.
|
| Genomics 14 : 1104-1106. 1992
|
| 66 | SLC6A3
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| Cloning, pharmacological characterization, and chromosome assignment of the human dopamine transporter.
|
| Giros B, et al.
|
| Mol Pharmacol 42 : 383-390. 1992
|