| 1 | CJMG, SLC16A12
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| Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.
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| Stäubli A, Capatina N, Fuhrer Y, Munier FL, Labs S, Schorderet DF, Tiwari A, Verrey F, Heon E, Cheng CY, Wong TY, Berger W, Camargo SMR, Kloeckener-Gruissem B.
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| Hum Mol Genet 26(21):4203-4214. doi: 10.1093/hmg/ddx310.
2017
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| 2 | SLC16A12
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| Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria.
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| Dhayat N, Simonin A, Anderegg M, Pathare G, Lüscher BP, Deisl C, Albano G, Mordasini D, Hediger MA, Surbek DV, Vogt B, Sass JO, Kloeckener-Gruissem B, Fuster DG.
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| J Am Soc Nephrol 27(5):1426-36. doi: 10.1681/ASN.2015040411. Epub 2015 Sep 16.
2016
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| 3 | SLC16A12, SLC6A8
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| The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.
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| Abplanalp J, Laczko E, Philp NJ, Neidhardt J, Zuercher J, Braun P, Schorderet DF, Munier FL, Verrey F, Berger W, Camargo SM, Kloeckener-Gruissem B.
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| Hum Mol Genet 22(16):3218-26. doi: 10.1093/hmg/ddt175. Epub 2013 Apr 10.
2013
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| 4 | CJMG, SLC16A12
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| Juvenile cataract-associated mutation of solute carrier SLC16A12 impairs trafficking of the protein to the plasma membrane.
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| Castorino JJ, Gallagher-Colombo SM, Levin AV, Fitzgerald PG, Polishook J, Kloeckener-Gruissem B, Ostertag E, Philp NJ.
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| Invest Ophthalmol Vis Sci 52(9):6774-84. doi: 10.1167/iovs.10-6579.
2011
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| 5 | SLC16A12
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| Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.
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| Zuercher J, Neidhardt J, Magyar I, Labs S, Moore AT, Tanner FC, Waseem N, Schorderet DF, Munier FL, Bhattacharya S, Berger W, Kloeckener-Gruissem B.
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| Invest Ophthalmol Vis Sci 51(7):3354-61. doi: 10.1167/iovs.10-5193. Epub 2010 Feb 24.
2010
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| 6 | SLC16A12, CJMG
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| Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria.
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| Kloeckener-Gruissem B, Vandekerckhove K, NŸrnberg G, Neidhardt J, Zeitz C, NŸrnberg P, Schipper I, Berger W.
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| Am J Hum Genet 82(3):772-9. Epub 2008 Feb 14. 2008
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| 7 | SLC16A10, SLC16A12, SLC16A13, SLC16A3, SLC16A5, SLC16A6, SLC16A7, SLC16A9
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| The SLC16 gene family-from monocarboxylate transporters (MCTs) to aromatic amino acid transporters and beyond.
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| Halestrap AP, Meredith D.
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| Pflugers Arch 447(5):619-28. Epub 2003 May 9. Review. 2004
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