200 related articles for article (PubMed ID: 25850411)
21. 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]
22. Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.
Sriram S; Shahid N; Mysliwiec D D; Lichter-Konecki U; Yatsenko SA; Garibaldi LR
J Pediatr Endocrinol Metab; 2024 Apr; 37(4):371-374. PubMed ID: 38345890
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Insights on the role of thyroid hormone transport in neurosensory organs and implication for the Allan-Herndon-Dudley syndrome.
García-Aldea Á; Guillén-Yunta M; Valcárcel-Hernández V; Montero-Pedrazuela A; Guadaño-Ferraz A; Bárez-López S
Eur Thyroid J; 2024 Apr; 13(2):. PubMed ID: 38417253
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies.
Matheus MG; Lehman RK; Bonilha L; Holden KR
J Child Neurol; 2015 Oct; 30(12):1664-8. PubMed ID: 25900139
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.
Yamamoto T; Lu Y; Nakamura R; Shimojima K; Kira R
Congenit Anom (Kyoto); 2018 Jul; 58(4):143-144. PubMed ID: 28862359
[No Abstract] [Full Text] [Related]
29. 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]
30. 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]
31. From zebrafish to human: A comparative approach to elucidate the role of the thyroid hormone transporter MCT8 during brain development.
Vancamp P; Darras VM
Gen Comp Endocrinol; 2018 Sep; 265():219-229. PubMed ID: 29183795
[TBL] [Abstract][Full Text] [Related]
32. Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.
Ramon-Gomez JL; Cortés-Rojas MC; Polania-Puentes MJ; Guerrero-Ruiz GDP
Mov Disord Clin Pract; 2024 May; 11(5):567-570. PubMed ID: 38454300
[TBL] [Abstract][Full Text] [Related]
33. [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]
34. Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome.
Maity-Kumar G; Ständer L; DeAngelis M; Lee S; Molenaar A; Becker L; Garrett L; Amerie OV; Hoelter SM; Wurst W; Fuchs H; Feuchtinger A; Gailus-Durner V; Garcia-Caceres C; Othman AE; Brockmann C; Schöffling VI; Beiser K; Krude H; Mroz PA; Hofmann S; Tuckermann J; DiMarchi RD; Hrabe de Angelis M; Tschöp MH; Pfluger PT; Müller TD
Mol Metab; 2022 Dec; 66():101616. PubMed ID: 36270613
[TBL] [Abstract][Full Text] [Related]
35. Allan-Herndon-Dudley syndrome.
Verma S
Indian J Pediatr; 2008 Apr; 75(4):402-4. PubMed ID: 18589880
[TBL] [Abstract][Full Text] [Related]
36. In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity.
Silva N; Campinho MA
Front Endocrinol (Lausanne); 2023; 14():1157685. PubMed ID: 37214246
[TBL] [Abstract][Full Text] [Related]
37. [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]
38. A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome.
Yamamoto S; Okuhara K; Tonoki H; Iizuka S; Nihei N; Tajima T
Clin Pediatr Endocrinol; 2013 Oct; 22(4):83-6. PubMed ID: 24170966
[TBL] [Abstract][Full Text] [Related]
39. Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.
Salas-Lucia F; Escamilla S; Bianco AC; Dumitrescu A; Refetoff S
JCI Insight; 2024 Feb; 9(7):. PubMed ID: 38376950
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
