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36 results

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Page 1
Thyroid Hormone Analogues: An Update.
Zucchi R. Zucchi R. Thyroid. 2020 Aug;30(8):1099-1105. doi: 10.1089/thy.2020.0071. Epub 2020 Apr 7. Thyroid. 2020. PMID: 32098589 Free PMC article. Review.
Aside TRbeta agonists, TH analogues include some TH metabolites that are biologically active on their own, and their synthetic analogues. 3,5,3'-triiodothyroacetic acid has already found clinical use in the treatment of some cases of TH resistance due to TRbeta mutations, and int …
Aside TRbeta agonists, TH analogues include some TH metabolites that are biologically active on their own, and their synthetic analogues. 3, …
Monocarboxylate Transporters (SLC16): Function, Regulation, and Role in Health and Disease.
Felmlee MA, Jones RS, Rodriguez-Cruz V, Follman KE, Morris ME. Felmlee MA, et al. Pharmacol Rev. 2020 Apr;72(2):466-485. doi: 10.1124/pr.119.018762. Pharmacol Rev. 2020. PMID: 32144120 Free PMC article. Review.
Expressed at the blood brain barrier, MCT8 mutations have been associated with an X-linked intellectual disability, known as Allan-Herndon-Dudley syndrome. Many MCT isoforms are associated with hormone, lipid, and glucose homeostasis, and recent resear …
Expressed at the blood brain barrier, MCT8 mutations have been associated with an X-linked intellectual disability, known as Allan- …
Thyroid Hormone Transporters.
Groeneweg S, van Geest FS, Peeters RP, Heuer H, Visser WE. Groeneweg S, et al. Endocr Rev. 2020 Apr 1;41(2):bnz008. doi: 10.1210/endrev/bnz008. Endocr Rev. 2020. PMID: 31754699 Review.
The MCT8 thyroid hormone transporter and Allan-Herndon-Dudley syndrome.
Schwartz CE, Stevenson RE. Schwartz CE, et al. Best Pract Res Clin Endocrinol Metab. 2007 Jun;21(2):307-21. doi: 10.1016/j.beem.2007.03.009. Best Pract Res Clin Endocrinol Metab. 2007. PMID: 17574010 Free PMC article. Review.
The gene is located in Xq13 and mutations in MCT8 are responsible for an X-linked condition, Allan-Herndon-Dudley syndrome (AHDS). This syndrome is characterized by congenital hypotonia that progresses to spasticity with severe psychomotor delays. ...
The gene is located in Xq13 and mutations in MCT8 are responsible for an X-linked condition, Allan-Herndon-Dudley sy …
Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.
Krude H, Biebermann H, Schuelke M, Müller TD, Tschöp M. Krude H, et al. Exp Clin Endocrinol Diabetes. 2020 Jun;128(6-07):414-422. doi: 10.1055/a-1108-1456. Epub 2020 Apr 2. Exp Clin Endocrinol Diabetes. 2020. PMID: 32242326 Review.
Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AHDS)", an X-linked thyroid hormone transporter defect, is unavailable. ...
Despite its first description more than 75 years ago, effective treatment for "Allan-Herndon-Dudley-Syndrome (AH …
Thyroid Hormone Transport and Transporters.
Braun D, Schweizer U. Braun D, et al. Vitam Horm. 2018;106:19-44. doi: 10.1016/bs.vh.2017.04.005. Epub 2017 Jun 12. Vitam Horm. 2018. PMID: 29407435 Review.
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. García-Aldea Á, et al. Eur Thyroid J. 2024 Mar 19;13(2):e230241. doi: 10.1530/ETJ-23-0241. Print 2024 Apr 1. Eur Thyroid J. 2024. PMID: 38417253 Free PMC article. Review.
In order to exert their actions, thyroid hormones need to access their target cells through transmembrane transporter proteins, among which the monocarboxylate transporter 8 (MCT8) stands out for its pathophysiological relevance. Mutations in the gene encoding for MCT8 lead to th …
In order to exert their actions, thyroid hormones need to access their target cells through transmembrane transporter proteins, among which …
Delayed myelination is not a constant feature of Allan-Herndon-Dudley syndrome: report of a new case and review of the literature.
Azzolini S, Nosadini M, Balzarin M, Sartori S, Suppiej A, Mardari R, Greggio NA, Toldo I. Azzolini S, et al. Brain Dev. 2014 Sep;36(8):716-20. doi: 10.1016/j.braindev.2013.10.009. Epub 2013 Nov 19. Brain Dev. 2014. PMID: 24268987 Review.
INTRODUCTION: Allan-Herndon-Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transporter 8 gene. ...Our case and the review of the pertinent literature suggest that Allan-Herndon-Dudley syndrom …
INTRODUCTION: Allan-Herndon-Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate …
Disorder of thyroid hormone transport into the tissues.
Groeneweg S, Visser WE, Visser TJ. Groeneweg S, et al. Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):241-253. doi: 10.1016/j.beem.2017.05.001. Epub 2017 May 24. Best Pract Res Clin Endocrinol Metab. 2017. PMID: 28648511 Review.
Male subjects with hemizygous mutations in MCT8 are afflicted with severe intellectual and motor disability, also known as the Allan-Herndon-Dudley syndrome (AHDS), which goes together with low serum T4 and high T3 levels. ...
Male subjects with hemizygous mutations in MCT8 are afflicted with severe intellectual and motor disability, also known as the Allan- …
Thyroid hormone cell membrane transport defect.
Ramos HE. Ramos HE. Endocr Dev. 2014;26:108-17. doi: 10.1159/000363158. Epub 2014 Aug 29. Endocr Dev. 2014. PMID: 25231447 Review.
The importance was better documented by the phenotype observed in patients harboring mutations of the monocarboxylate transporter 8 (MCT8) gene immediately linked to Allan-Herndon-Dudley syndrome, in which severe neurological findings are associated wi …
The importance was better documented by the phenotype observed in patients harboring mutations of the monocarboxylate transporter 8 (MCT8) g …
36 results