1 | CDPH, SLC30A10
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| Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation.
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| Zaki MS, Issa MY, Elbendary HM, El-Karaksy H, Hosny H, Ghobrial C, El Safty A, El-Hennawy A, Oraby A, Selim L, Abdel-Hamid MS.
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| Clin Genet 93(4):905-912. doi: 10.1111/cge.13184. Epub 2018 Feb 11.
2018
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2 | SLC30A10, SLC39A14
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| Inherited Disorders of Manganese Metabolism.
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| Zogzas CE, Mukhopadhyay S.
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| Adv Neurobiol 18:35-49. doi: 10.1007/978-3-319-60189-2_3. Review.
2017
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3 | SLC30A10, SLC39A14
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| Hypothyroidism induced by loss of the manganese efflux transporter SLC30A10 may be explained by reduced thyroxine production.
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| Liu C, Hutchens S, Jursa T, Shawlot W, Polishchuk EV, Polishchuk RS, Dray BK, Gore AC, Aschner M, Smith DR, Mukhopadhyay S.
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| J Biol Chem 292(40):16605-16615. doi: 10.1074/jbc.M117.804989. Epub 2017 Aug 31.
2017
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4 | SLC30A10
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| Vitamin D3 transactivates the zinc and manganese transporter SLC30A10 via the Vitamin D receptor.
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| Claro da Silva T, Hiller C, Gai Z, Kullak-Ublick GA.
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| J Steroid Biochem Mol Biol 163:77-87. doi: 10.1016/j.jsbmb.2016.04.006. Epub 2016 Apr 20.
2016
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5 | SLC30A10
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| Structural Elements in the Transmembrane and Cytoplasmic Domains of the Metal Transporter SLC30A10 Are Required for Its Manganese Efflux Activity.
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| Zogzas CE, Aschner M, Mukhopadhyay S.
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| J Biol Chem 291(31):15940-57. doi: 10.1074/jbc.M116.726935. Epub 2016 Jun 15.
2016
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6 | CDPH, SLC30A10
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| Manganese transport disorder: novel SLC30A10 mutations and early phenotypes.
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| Quadri M, Kamate M, Sharma S, Olgiati S, Graafland J, Breedveld GJ, Kori I, Hattiholi V, Jain P, Aneja S, Kumar A, Gulati P, Goel M, Talukdar B, Bonifati V.
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| Mov Disord 30(7):996-1001. doi: 10.1002/mds.26202. Epub 2015 Mar 17.
2015
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7 | SLC30A10
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| SLC30A10 is a cell surface-localized manganese efflux transporter, and parkinsonism-causing mutations block its intracellular trafficking and efflux activity.
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| Leyva-Illades D, Chen P, Zogzas CE, Hutchens S, Mercado JM, Swaim CD, Morrisett RA, Bowman AB, Aschner M, Mukhopadhyay S.
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| J Neurosci 34(42):14079-95. doi: 10.1523/JNEUROSCI.2329-14.2014.
2014
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8 | CDPH, SLC30A10
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| Manganese efflux in Parkinsonism: insights from newly characterized SLC30A10 mutations.
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| DeWitt MR, Chen P, Aschner M.
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| Biochem Biophys Res Commun 432(1):1-4. doi: 10.1016/j.bbrc.2013.01.058. Epub 2013 Jan 26.
2013
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9 | CDPH, SLC30A10
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| Mutations in SLC30A10 Cause Parkinsonism and Dystonia with Hypermanganesemia, Polycythemia, and Chronic Liver Disease.
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| Quadri M, Federico A, Zhao T, Breedveld GJ, Battisti C, Delnooz C, Severijnen LA, Di Toro Mammarella L, Mignarri A, Monti L, Sanna A, Lu P, Punzo F, Cossu G, Willemsen R, Rasi F, Oostra BA, van de Warrenburg BP, Bonifati V.
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| Am J Hum Genet 90(3):467-477. Epub 2012 Feb 16. 2012
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10 | CDPH, SLC30A10
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| Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.
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| Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Kling Chong WK, Mills PB.
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| Am J Hum Genet 90(3):457-466. Epub 2012 Feb 16. 2012
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11 | SLC30A10, SLC30A5
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| Identification of the human zinc transcriptional regulatory element (ZTRE): a palindromic protein-binding DNA sequence responsible for zinc-induced transcriptional repression.
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| Coneyworth LJ, Jackson KA, Tyson J, Bosomworth HJ, van der Hagen E, Hann GM, Ogo OA, Swann DC, Mathers JC, Valentine RA, Ford D.
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| J Biol Chem 287(43):36567-81. doi: 10.1074/jbc.M112.397000. Epub 2012 Aug 17.
2012
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12 | CDPH, SLC30A10
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| Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: a new treatable disorder.
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| Stamelou M, Tuschl K, Chong WK, Burroughs AK, Mills PB, Bhatia KP, Clayton PT.
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| Mov Disord 27(10):1317-22. doi: 10.1002/mds.25138. Epub 2012 Aug 23.
2012
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13 | SLC39A2, SLC30A2, SLC30A3, SLC30A10, SERPINF1
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| Expression of ZnT and ZIP zinc transporters in the human RPE and their regulation by neurotrophic factors.
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| Leung KW, Liu M, Xu X, Seiler MJ, Barnstable CJ, Tombran-Tink J.
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| Invest Ophthalmol Vis Sci 49(3):1221-31. 2008
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14 | SLC30A6, SLC30A7, SLC30A8, SLC30A10, SLC30A3
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| In silico identification and expression of SLC30 family genes: an expressed sequence tag data mining strategy for the characterization of zinc transporters' tissue expression.
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| Seve M, Chimienti F, Devergnas S, Favier A.
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| BMC Genomics 5(1):32. 2004
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