These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

405 related articles for article (PubMed ID: 15488219)

  • 1. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
    Friesema EC; Grueters A; Biebermann H; Krude H; von Moers A; Reeser M; Barrett TG; Mancilla EE; Svensson J; Kester MH; Kuiper GG; Balkassmi S; Uitterlinden AG; Koehrle J; Rodien P; Halestrap AP; Visser TJ
    Lancet; 2004 Oct 16-22; 364(9443):1435-7. PubMed ID: 15488219
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine.
    Jansen J; Friesema EC; Kester MH; Milici C; Reeser M; Grüters A; Barrett TG; Mancilla EE; Svensson J; Wemeau JL; Busi da Silva Canalli MH; Lundgren J; McEntagart ME; Hopper N; Arts WF; Visser TJ
    J Clin Endocrinol Metab; 2007 Jun; 92(6):2378-81. PubMed ID: 17356046
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.
    Friesema EC; Jansen J; Heuer H; Trajkovic M; Bauer K; Visser TJ
    Nat Clin Pract Endocrinol Metab; 2006 Sep; 2(9):512-23. PubMed ID: 16957765
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Psychomotor retardation caused by a defective thyroid hormone transporter: report of two families with different MCT8 mutations.
    Anık A; Kersseboom S; Demir K; Catlı G; Yiş U; Böber E; van Mullem A; van Herebeek RE; Hız S; Abacı A; Visser TJ
    Horm Res Paediatr; 2014; 82(4):261-71. PubMed ID: 25247785
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter.
    Maranduba CM; Friesema EC; Kok F; Kester MH; Jansen J; Sertié AL; Passos-Bueno MR; Visser TJ
    J Med Genet; 2006 May; 43(5):457-60. PubMed ID: 15980113
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Thyroid hormone transporters.
    Visser TJ
    Horm Res; 2007; 68 Suppl 5():28-30. PubMed ID: 18174701
    [TBL] [Abstract][Full Text] [Related]  

  • 7. MCT8: from gene to disease and therapeutic approach.
    Kersseboom S; Visser TJ
    Ann Endocrinol (Paris); 2011 Apr; 72(2):77-81. PubMed ID: 21511238
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene.
    Herzovich V; Vaiani E; Marino R; Dratler G; Lazzati JM; Tilitzky S; Ramirez P; Iorcansky S; Rivarola MA; Belgorosky A
    Horm Res; 2007; 67(1):1-6. PubMed ID: 16974106
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [MCT8-specific thyroid hormone cell transporter deficiency: a case report and review of the literature].
    López-Marín L; Martín-Belinchón M; Gutiérrez-Solana LG; Morte-Molina B; Duat-Rodríguez A; Bernal J
    Rev Neurol; 2013 Jun; 56(12):615-22. PubMed ID: 23744248
    [TBL] [Abstract][Full Text] [Related]  

  • 10. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene.
    Brockmann K; Dumitrescu AM; Best TT; Hanefeld F; Refetoff S
    J Neurol; 2005 Jun; 252(6):663-6. PubMed ID: 15834651
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Allan-Herndon-Dudley syndrome (AHDS) in two consecutive generations caused by a missense MCT8 gene mutation. Phenotypic variability with the presence of normal serum T3 levels.
    Boccone L; Dessì V; Meloni A; Loudianos G
    Eur J Med Genet; 2013 Apr; 56(4):207-10. PubMed ID: 23419639
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation.
    Capri Y; Friesema EC; Kersseboom S; Touraine R; Monnier A; Eymard-Pierre E; Des Portes V; De Michele G; Brady AF; Boespflug-Tanguy O; Visser TJ; Vaurs-Barriere C
    Hum Mutat; 2013 Jul; 34(7):1018-25. PubMed ID: 23568789
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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. PubMed ID: 18334584
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.
    Islam MS; Namba N; Ohata Y; Fujiwara M; Nakano C; Takeyari S; Miyata K; Nakano Y; Yamamoto K; Nakayama H; Kitaoka T; Kubota T; Ozono K
    Endocr J; 2019 Jan; 66(1):19-29. PubMed ID: 30369548
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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. PubMed ID: 18398436
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations.
    Kim JH; Kim YM; Yum MS; Choi JH; Lee BH; Kim GH; Yoo HW
    Horm Res Paediatr; 2015; 83(4):288-92. PubMed ID: 25896225
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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. PubMed ID: 18636565
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene.
    Rego T; Lado CG; Rodríguez PC; Santos FS; Angueira FB; Castro-Feijóo L; Conde JB; Castro-Gago M
    Hormones (Athens); 2017 Apr; 16(2):194-199. PubMed ID: 28742507
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Thyroid hormone transport by the human monocarboxylate transporter 8 and its rate-limiting role in intracellular metabolism.
    Friesema EC; Kuiper GG; Jansen J; Visser TJ; Kester MH
    Mol Endocrinol; 2006 Nov; 20(11):2761-72. PubMed ID: 16887882
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment.
    Zung A; Visser TJ; Uitterlinden AG; Rivadeneira F; Friesema EC
    Eur J Endocrinol; 2011 Nov; 165(5):823-30. PubMed ID: 21896621
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 21.