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Items: 1 to 20 of 29

1.

Tetrac can replace thyroid hormone during brain development in mouse mutants deficient in the thyroid hormone transporter mct8.

Horn S, Kersseboom S, Mayerl S, Müller J, Groba C, Trajkovic-Arsic M, Ackermann T, Visser TJ, Heuer H.

Endocrinology. 2013 Feb;154(2):968-79. doi: 10.1210/en.2012-1628. Epub 2013 Jan 10.

PMID:
23307789
2.

Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency.

Verge CF, Konrad D, Cohen M, Di Cosmo C, Dumitrescu AM, Marcinkowski T, Hameed S, Hamilton J, Weiss RE, Refetoff S.

J Clin Endocrinol Metab. 2012 Dec;97(12):4515-23. doi: 10.1210/jc.2012-2556. Epub 2012 Sep 19.

3.

Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation.

Visser WE, Vrijmoeth P, Visser FE, Arts WF, van Toor H, Visser TJ.

Clin Endocrinol (Oxf). 2013 Feb;78(2):310-5. doi: 10.1111/cen.12023.

PMID:
22924588
4.

MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.

Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S.

J Child Neurol. 2013 Jun;28(6):795-800. doi: 10.1177/0883073812450944. Epub 2012 Jul 17.

5.

Rapid detection of a mutation causing X-linked leucoencephalopathy by exome sequencing.

Tsurusaki Y, Osaka H, Hamanoue H, Shimbo H, Tsuji M, Doi H, Saitsu H, Matsumoto N, Miyake N.

J Med Genet. 2011 Sep;48(9):606-9. doi: 10.1136/jmg.2010.083535. Epub 2011 Mar 17.

PMID:
21415082
6.

Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care.

Ramos HE, Morandini M, Carré A, Tron E, Floch C, Mandelbrot L, Neri N, De Sarcus B, Simon A, Bonnefont JP, Amiel J, Desguerre I, Valayannopoulos V, Castanet M, Polak M.

Eur J Endocrinol. 2011 Feb;164(2):309-14. doi: 10.1530/EJE-10-0679. Epub 2010 Nov 23.

7.

White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene.

Gika AD, Siddiqui A, Hulse AJ, Edward S, Fallon P, McEntagart ME, Jan W, Josifova D, Lerman-Sagie T, Drummond J, Thompson E, Refetoff S, Bönnemann CG, Jungbluth H.

Dev Med Child Neurol. 2010 May;52(5):475-82. doi: 10.1111/j.1469-8749.2009.03471.x. Epub 2009 Oct 7.

8.

Molecular aspects of thyroid hormone transporters, including MCT8, MCT10, and OATPs, and the effects of genetic variation in these transporters.

van der Deure WM, Peeters RP, Visser TJ.

J Mol Endocrinol. 2010 Jan;44(1):1-11. doi: 10.1677/JME-09-0042. Epub 2009 Jun 18. Review.

PMID:
19541799
9.

A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport.

Di Cosmo C, Liao XH, Dumitrescu AM, Weiss RE, Refetoff S.

Endocrinology. 2009 Sep;150(9):4450-8. doi: 10.1210/en.2009-0209. Epub 2009 Jun 4.

10.

Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects.

Vaurs-Barrière C, Deville M, Sarret C, Giraud G, Des Portes V, Prats-Viñas JM, De Michele G, Dan B, Brady AF, Boespflug-Tanguy O, Touraine R.

Ann Neurol. 2009 Jan;65(1):114-8. doi: 10.1002/ana.21579.

PMID:
19194886
11.

Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine.

Ceballos A, Belinchon MM, Sanchez-Mendoza E, Grijota-Martinez C, Dumitrescu AM, Refetoff S, Morte B, Bernal J.

Endocrinology. 2009 May;150(5):2491-6. doi: 10.1210/en.2008-1616. Epub 2009 Jan 15.

12.

Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation.

Fuchs O, Pfarr N, Pohlenz J, Schmidt H.

Dev Med Child Neurol. 2009 Mar;51(3):240-4. doi: 10.1111/j.1469-8749.2008.03125.x. Epub 2008 Oct 17.

13.

Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia).

Lago-Lestón R, Iglesias MJ, San-José E, Areal C, Eiras A, Araújo-Vilar D, Lado-Abeal J, Domínguez-Gerpe L.

Clin Endocrinol (Oxf). 2009 Apr;70(4):636-43. doi: 10.1111/j.1365-2265.2008.03377.x. Epub 2008 Aug 15.

PMID:
18710470
14.

Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier.

Roberts LM, Woodford K, Zhou M, Black DS, Haggerty JE, Tate EH, Grindstaff KK, Mengesha W, Raman C, Zerangue N.

Endocrinology. 2008 Dec;149(12):6251-61. doi: 10.1210/en.2008-0378. Epub 2008 Aug 7.

PMID:
18687783
15.

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations.

Visser WE, Jansen J, Friesema EC, Kester MH, Mancilla E, Lundgren J, van der Knaap MS, Lunsing RJ, Brouwer OF, Visser TJ.

Hum Mutat. 2009 Jan;30(1):29-38. doi: 10.1002/humu.20808.

PMID:
18636565
16.

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression.

Frints SG, Lenzner S, Bauters M, Jensen LR, Van Esch H, des Portes V, Moog U, Macville MV, van Roozendaal K, Schrander-Stumpel CT, Tzschach A, Marynen P, Fryns JP, Hamel B, van Bokhoven H, Chelly J, Beldjord C, Turner G, Gecz J, Moraine C, Raynaud M, Ropers HH, Froyen G, Kuss AW.

Eur J Hum Genet. 2008 Sep;16(9):1029-37. doi: 10.1038/ejhg.2008.66. Epub 2008 Apr 9.

17.

Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8.

Wémeau JL, Pigeyre M, Proust-Lemoine E, d'Herbomez M, Gottrand F, Jansen J, Visser TJ, Ladsous M.

J Clin Endocrinol Metab. 2008 Jun;93(6):2084-8. doi: 10.1210/jc.2007-2719. Epub 2008 Mar 11.

PMID:
18334584
18.

1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency.

Sijens PE, Rödiger LA, Meiners LC, Lunsing RJ.

J Clin Endocrinol Metab. 2008 May;93(5):1854-9. doi: 10.1210/jc.2007-2441. Epub 2008 Mar 4.

PMID:
18319316
19.

Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.

Jansen J, Friesema EC, Kester MH, Schwartz CE, Visser TJ.

Endocrinology. 2008 May;149(5):2184-90. doi: 10.1210/en.2007-1475. Epub 2008 Jan 10.

20.

The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.

Schwartz CE, Stevenson RE.

Best Pract Res Clin Endocrinol Metab. 2007 Jun;21(2):307-21. Review.

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