| 1 | DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
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| RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features
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| Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J.
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| Am J Hum Genet. Oct 28:S0002-9297(20)30363-3. doi: 10.1016/j.ajhg.2020.10.005. Epub ahead of print. 2020
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| 2 | DUPXQ13, FTX, NEXMIF, RLIM, SLC16A2
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| RLIM Is a Candidate Dosage-Sensitive Gene for Individuals with Varying Duplications of Xq13, Intellectual Disability, and Distinct Facial Features. 2020 Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. PMID:
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| Palmer EE, Carroll R, Shaw M, Kumar R, Minoche AE, Leffler M, Murray L, Macintosh R, Wright D, Troedson C, McKenzie F, Townshend S, Ward M, Nawaz U, Ravine A, Runke CK, Thorland EC, Hummel M, Foulds N, Pichon O, Isidor B, Le Caignec C, Demeer B, Andrieux J, Albarazi SH, Bye A, Sachdev R, Kirk EP, Cowley MJ, Field M, Gecz J
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| Am J Hum Genet. Dec 3;107(6):1157-1169. doi: 10.1016/j.ajhg.2020.10.005. Epub 2020 Nov 6. 2020
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| 3 | SLC16A2, SLCO1C1
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| Thyroid Hormone Transporters MCT8 and OATP1C1 Control Skeletal Muscle Regeneration
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| Mayerl S, Schmidt M, Doycheva D, Darras VM, Hüttner SS, Boelen A, Visser TJ, Kaether C, Heuer H, von Maltzahn J.
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| Stem Cell Reports. Jun 5;10(6):1959-1974. doi: 10.1016/j.stemcr.2018.03.021. Epub 2018 Apr 26. 2018
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| 4 | SLC16A2
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| Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination
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| Lee JY, Kim MJ, Deliyanti D, Azari MF, Rossello F, Costin A, Ramm G, Stanley EG, Elefanty AG, Wilkinson-Berka JL, Petratos S.
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| EBioMedicine Nov;25:122-135. doi: 10.1016/j.ebiom.2017.10.016. Epub 2017 Oct 19. 2017
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| 5 | SLC16A2
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| An Essential Physiological Role for MCT8 in Bone in Male Mice
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| Leitch VD, Di Cosmo C, Liao XH, O'Boy S, Galliford TM, Evans H, Croucher PI, Boyde A, Dumitrescu A, Weiss RE, Refetoff S, Williams GR, Bassett JHD.
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| Endocrinology. Sep 1;158(9):3055-3066. doi: 10.1210/en.2017-00399. 2017
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| 6 | SLC16A2
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| Deficiency of the Thyroid Hormone Transporter Monocarboxylate Transporter 8 in Neural Progenitors Impairs Cellular Processes Crucial for Early Corticogenesis.
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| Vancamp P, Deprez MA, Remmerie M, Darras VM.
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| J Neurosci. Nov 29;37(48):11616-11631. doi: 10.1523/JNEUROSCI.1917-17.2017. Epub 2017 Nov 6. 2017
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| 7 | AHDS, SLC16A2
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| SLC16A2 mutations in two Japanese patients with Allan-Herndon-Dudley syndrome.
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| Yamamoto T, Shimojima K, Umemura A, Uematsu M, Nakayama T, Inoue K.
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| Hum Genome Var. Oct 9;1:14010. doi: 10.1038/hgv.2014.10. eCollection 2014. 2014
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| 8 | SLC16A2
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| Structure and function of thyroid hormone plasma membrane transporters. 2014 PMID:
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| Schweizer U, Johannes J, Bayer D, Braun D.
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| Eur Thyroid J. Sep;3(3):143-53. doi: 10.1159/000367858. Epub 2014 Sep 10. 2014
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| 9 | SLC16A2, SLCO1C1
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| Expression of organic anion transporting polypeptide 1c1 and monocarboxylate transporter 8 in the rat placental barrier and the compensatory response to thyroid dysfunction
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| Sun YN, Liu YJ, Zhang L, Ye Y, Lin LX, Li YM, Yan YQ, Chen ZP.
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| PLoS One. Apr 24;9(4):e96047. doi: 10.1371/journal.pone.0096047. 2014
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| 10 | PTTG1IP, SLC16A2
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| PTTG-binding factor (PBF) is a novel regulator of the thyroid hormone transporter MCT8.
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| Smith VE, Read ML, Turnell AS, Sharma N, Lewy GD, Fong JC, Seed RI, Kwan P, Ryan G, Mehanna H, Chan SY, Darras VM, Boelaert K, Franklyn JA, McCabe CJ.
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| Endocrinology 153(7):3526-36. doi: 10.1210/en.2011-2030. Epub 2012 Apr 25.
2012
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| 11 | SLC16A2
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| Understanding the hypothalamus-pituitary-thyroid axis in mct8 deficiency. 2012 . PMID:
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| Müller J, Heuer H.
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| Eur Thyroid J. Jul;1(2):72-9. doi: 10.1159/000339474. Epub 2012 Jun 20 2012
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| 12 | SLC16A2, THRA
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| Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome.
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| Visser WE, Swagemakers SM, Ozgur Z, Schot R, Verheijen FW, van Ijcken WF, van der Spek PJ, Visser TJ.
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| Hum Mol Genet 19(21):4189-200. Epub 2010 Aug 12.
2010
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| 13 | SLC16A1, SLC16A2, SLC16A4
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| Hypoxia stimulates lactate release and modulates monocarboxylate transporter (MCT1, MCT2, and MCT4) expression in human adipocytes.
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| Pérez de Heredia F, Wood IS, Trayhurn P.
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| Pflugers Arch 459(3):509-18. doi: 10.1007/s00424-009-0750-3. Epub 2009 Oct 30.
2010
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| 14 | SLC16A2, SLC16A8
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| Expression of thyroid hormone transporters during critical illness.
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| Mebis L, Paletta D, Debaveye Y, Ellger B, Langouche L, D'Hoore A, Darras VM, Visser TJ, Van den Berghe G.
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| Eur J Endocrinol 161(2):243-50. Epub 2009 May 13.PMID: 19439506 2009
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| 15 | SLC16A10, SLC16A2, SLCO1C1
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| Minireview: Pathophysiological importance of thyroid hormone transporters.
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| Heuer H, Visser TJ.
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| Endocrinology 150(3):1078-83. Epub 2009 Jan 29. Review.PMID: 19179441 2009
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| 16 | SLC16A2, SLC7A5, SLC7A8
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| The monocarboxylate transporter 8 and L-type amino acid transporters 1 and 2 are expressed in mouse skeletons and in osteoblastic MC3T3-E1 cells.
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| Capelo LP, Beber EH, Fonseca TL, Gouveia CH.
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| Thyroid 19(2):171-80.PMID: 19133747 2009
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| 17 | SLC16A10, SLC16A2
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| Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10.
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| Friesema EC, Jansen J, Jachtenberg JW, Visser WE, Kester MH, Visser TJ.
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| Mol Endocrinol 22(6):1357-69. Epub 2008 Mar 12. 2008
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| 18 | SLC16A10, SLC16A2
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| The SLC16 monocaboxylate transporter family.
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| Meredith D, Christian HC.
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| Xenobiotica 38(7-8):1072-106. Review.PMID: 18668440 2008
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| 19 | SLC16A2
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| Thyroid hormone transport in and out of cells.
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| Visser WE, Friesema EC, Jansen J, Visser TJ.
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| Trends Endocrinol Metab 19(2):50-6. Review.PMID: 18291666 2008
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| 20 | SLC16A2, SLCO1C1
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| Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.
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| Roberts LM, Woodford K, Zhou M, Black DS, Haggerty JE, Tate EH, Grindstaff KK, Mengesha W, Raman C, Zerangue N.
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| Endocrinology 149(12):6251-61. Epub 2008 Aug 7. 2008
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| 21 | AHDS,SLC16A2
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| Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.
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| Jansen J, Friesema EC, Kester MH, Milici C, Reeser M, Gruters A, Barrett TG, Mancilla EE, Svensson J, Wemeau JL, Busi da Silva Canalli MH, Lundgren J, McEntagart ME, Hopper N, Arts WF, Visser TJ.
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| J Clin Endocrinol Metab 92(6):2378-81. Epub 2007 Mar 13. 2007
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| 22 | AHDS, SLC16A2
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| The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.
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| Schwartz CE, Stevenson RE.
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| Best Pract Res Clin Endocrinol Metab 21(2):307-21. Review.
2007
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| 23 | SLC16A10, SLC16A2, SLC16A8
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| Thyroid hormone transport by monocarboxylate transporters.
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| Visser WE, Friesema EC, Jansen J, Visser TJ.
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| Best Pract Res Clin Endocrinol Metab 21(2):223-36. Review.PMID: 17574005 2007
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| 24 | SLC16A1, SLC16A2, SLC16A4
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| Enhanced expression of three monocarboxylate transporter isoforms in the brain of obese mice.
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| Pierre K, Parent A, Jayet PY, Halestrap AP, Scherrer U, Pellerin L.
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| J Physiol 583(Pt 2):469-86. Epub 2007 Jun 28.
2007
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| 25 | ACSL4, AFF2, AGTR2, ARHGEF6, ARX, ATRX, DLG3, ESMR, FTSJ1, GDI1, IL1RAPL1, KDM5C, MECP2, MRX68, MRX89, MRX90, MRXS31, NLGN3, NLGN4X, OPHN1, PQBP1, RPS6KA3, RTTM, SLC16A2, SLC6A8, SYN1, TSPAN7, ZNF41
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| X linked mental retardation: a clinical guide.
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| Raymond FL.
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| J Med Genet 43(3):193-200. Epub 2005 Aug 23. 2006
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| 26 | SLC16A2, AHDS
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| Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.
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| Maranduba CM, Friesema EC, Kok F, Kester MH, Jansen J, Sertie AL, Passos-Bueno MR, Visser TJ.
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| J Med Genet 43(5):457-60. Epub 2005 Jun 24. 2006
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| 27 | SLC16A2, AHDS
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| Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
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| Schwartz CE, May MM, Carpenter NJ, Rogers RC, Martin J, Bialer MG, Ward J, Sanabria J, Marsa S, Lewis JA, Echeverri R, Lubs HA, Voeller K, Simensen RJ, Stevenson RE.
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| Am J Hum Genet 77(1):41-53. Epub 2005 May 11. 2005
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| 28 | MCT8D, SLC16A2
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| X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
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| Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S.
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| J Neurol 252(6):663-6. Epub 2005 Apr 18. 2005
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| 29 | SLC16A2, MCT8D
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| A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene.
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| Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S.
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| Am J Hum Genet 74(1):168-75. Epub 2003 Dec 05. 2004
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| 30 | SLC16A2
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| Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter.
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| Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ.
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| J Biol Chem 278(41):40128-35. Epub 2003 Jul 18. 2003
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| 31 | SLC16A1, SLC16A10, SLC16A2, SLC16A3, SLC16A4, SLC16A5, SLC16A6, SLC16A7, SLC16A8
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| The proton-linked monocarboxylate transporter (MCT) family: structure, function and regulation.
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| Halestrap AP, Price NT.
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| Biochem J 343 Pt 2:281-99. Review. 1999
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| 32 | SLC16A10, SLC16A2, SLC16A3, SLC16A4, SLC16A5, SLC16A6, SLC16A7, SLC16A8
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| Cloning and sequencing of four new mammalian monocarboxylate transporter (MCT) homologues confirms the existence of a transporter family with an ancient past.
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| Price NT, Jackson VN, Halestrap AP.
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| Biochem J 329 ( Pt 2):321-8. 1998
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| 33 | SLC16A2
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| cDNA cloning of MCT2, a second monocarboxylate transporter expressed in different cells than MCT1.
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| Garcia CK, et al.
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| J Biol Chem 270 : 1843-1849. 1995
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| 34 | SLC16A2
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| A novel transmembrane transporter encoded by the XPCT gene in Xq13.2.
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| Lafrenire RG, et al.
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| Hum Mol Genet 3 : 1133-1139. 1994
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