276 related articles for article (PubMed ID: 21896621)
1. 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]
2. 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]
3. 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]
4. 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]
5. [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]
6. Altered behavioral performance and live imaging of circuit-specific neural deficiencies in a zebrafish model for psychomotor retardation.
Zada D; Tovin A; Lerer-Goldshtein T; Vatine GD; Appelbaum L
PLoS Genet; 2014 Sep; 10(9):e1004615. PubMed ID: 25255244
[TBL] [Abstract][Full Text] [Related]
7. Deletion of exon 1 of the SLC16A2 gene: a common occurrence in patients with Allan-Herndon-Dudley syndrome.
García-de Teresa B; González-Del Angel A; Reyna-Fabián ME; Ruiz-Reyes Mde L; Calzada-León R; Pérez-Enríquez B; Alcántara-Ortigoza MA
Thyroid; 2015 Mar; 25(3):361-7. PubMed ID: 25517855
[TBL] [Abstract][Full Text] [Related]
8. Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination.
Lee JY; Kim MJ; Deliyanti D; Azari MF; Rossello F; Costin A; Ramm G; Stanley EG; Elefanty AG; Wilkinson-Berka JL; Petratos S
EBioMedicine; 2017 Nov; 25():122-135. PubMed ID: 29111262
[TBL] [Abstract][Full Text] [Related]
9. Identification of Inhibitors Based on Molecular Docking: Thyroid Hormone Transmembrane Transporter MCT8 as a Target.
Shaji D
Curr Drug Discov Technol; 2021; 18(1):105-112. PubMed ID: 31774046
[TBL] [Abstract][Full Text] [Related]
10. [The importance of thyroid hormone transporters].
Braun D
Nuklearmedizin; 2015; 54(3):77-81. PubMed ID: 26105714
[TBL] [Abstract][Full Text] [Related]
11. Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.
Guillén-Yunta M; Valcárcel-Hernández V; García-Aldea Á; Soria G; García-Verdugo JM; Montero-Pedrazuela A; Guadaño-Ferraz A
Fluids Barriers CNS; 2023 Nov; 20(1):79. PubMed ID: 37924081
[TBL] [Abstract][Full Text] [Related]
12. Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome.
Novara F; Groeneweg S; Freri E; Estienne M; Reho P; Matricardi S; Castellotti B; Visser WE; Zuffardi O; Visser TJ
Hum Mutat; 2017 Mar; 38(3):260-264. PubMed ID: 27805744
[TBL] [Abstract][Full Text] [Related]
13. Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.
Choi JH; Cho JH; Kim JH; Yoo EG; Kim GH; Yoo HW
Horm Res Paediatr; 2018; 90(5):283-290. PubMed ID: 30497070
[TBL] [Abstract][Full Text] [Related]
14. Disorder of thyroid hormone transport into the tissues.
Groeneweg S; Visser WE; Visser TJ
Best Pract Res Clin Endocrinol Metab; 2017 Mar; 31(2):241-253. PubMed ID: 28648511
[TBL] [Abstract][Full Text] [Related]
15. Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH.
Boccone L; Mariotti S; Dessì V; Pruna D; Meloni A; Loudianos G
Eur J Med Genet; 2010; 53(6):392-5. PubMed ID: 20713192
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. [Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome].
Wang J; Zhang Q; Bao X; Chen Y; Yu S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Aug; 35(4):484-488. PubMed ID: 30098239
[TBL] [Abstract][Full Text] [Related]
18. Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation.
Armour CM; Kersseboom S; Yoon G; Visser TJ
PLoS One; 2015; 10(10):e0139343. PubMed ID: 26426690
[TBL] [Abstract][Full Text] [Related]
19. Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.
Kersseboom S; Kremers GJ; Friesema EC; Visser WE; Klootwijk W; Peeters RP; Visser TJ
Mol Endocrinol; 2013 May; 27(5):801-13. PubMed ID: 23550058
[TBL] [Abstract][Full Text] [Related]
20. Thyroid hormone transporters and resistance.
Visser TJ
Endocr Dev; 2013; 24():1-10. PubMed ID: 23392090
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]