278 related articles for article (PubMed ID: 23550058)
1. 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]
2. 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]
3. 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]
4. Brain Gene Expression in Systemic Hypothyroidism and Mouse Models of MCT8 Deficiency: The Mct8-Oatp1c1-Dio2 Triad.
Morte B; Gil-Ibañez P; Heuer H; Bernal J
Thyroid; 2021 Jun; 31(6):985-993. PubMed ID: 33307956
[No Abstract] [Full Text] [Related]
5. 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]
6. 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]
7. Transporters MCT8 and OATP1C1 maintain murine brain thyroid hormone homeostasis.
Mayerl S; Müller J; Bauer R; Richert S; Kassmann CM; Darras VM; Buder K; Boelen A; Visser TJ; Heuer H
J Clin Invest; 2014 May; 124(5):1987-99. PubMed ID: 24691440
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene.
La Piana R; Vanasse M; Brais B; Bernard G
J Child Neurol; 2015 Sep; 30(10):1371-4. PubMed ID: 25380603
[TBL] [Abstract][Full Text] [Related]
10.
Groeneweg S; Kersseboom S; van den Berge A; Dolcetta-Capuzzo A; van Geest FS; van Heerebeek REA; Arjona FJ; Meima ME; Peeters RP; Visser WE; Visser TJ
Thyroid; 2019 Oct; 29(10):1499-1510. PubMed ID: 31436139
[No Abstract] [Full Text] [Related]
11. 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]
12. 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]
13. Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones.
Braun D; Schweizer U
Endocrinology; 2015 Dec; 156(12):4720-30. PubMed ID: 26368820
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Clinical course and images of four familial cases of Allan-Herndon-Dudley syndrome with a novel monocarboxylate transporter 8 gene mutation.
Kobayashi S; Onuma A; Inui T; Wakusawa K; Tanaka S; Shimojima K; Yamamoto T; Haginoya K
Pediatr Neurol; 2014 Sep; 51(3):414-6. PubMed ID: 25160547
[TBL] [Abstract][Full Text] [Related]
16. AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
Liao XH; Avalos P; Shelest O; Ofan R; Shilo M; Bresee C; Likhite S; Vit JP; Heuer H; Kaspar B; Meyer K; Dumitrescu AM; Refetoff S; Svendsen CN; Vatine GD
Thyroid; 2022 Jul; 32(7):849-859. PubMed ID: 35350867
[No Abstract] [Full Text] [Related]
17. Zebrafish - An emerging model to explore thyroid hormone transporters and psychomotor retardation.
Zada D; Blitz E; Appelbaum L
Mol Cell Endocrinol; 2017 Dec; 459():53-58. PubMed ID: 28274736
[TBL] [Abstract][Full Text] [Related]
18. Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.
van Geest FS; Gunhanlar N; Groeneweg S; Visser WE
Front Endocrinol (Lausanne); 2021; 12():723750. PubMed ID: 34539576
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. Outward-Open Model of Thyroid Hormone Transporter Monocarboxylate Transporter 8 Provides Novel Structural and Functional Insights.
Groeneweg S; Lima de Souza EC; Meima ME; Peeters RP; Visser WE; Visser TJ
Endocrinology; 2017 Oct; 158(10):3292-3306. PubMed ID: 28977587
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
