About 95 results

ALLMedicine™ Allan-herndon-dudley Syndrome Center

Research & Reviews  38 results

Design and Characterization of a Fluorescent Reporter Enabling Live-cell Monitoring of ...
Experimental and Clinical Endocrinology & Diabetes : Offi... Graffunder AS, Paisdzior S et. al.

Aug 6th, 2021 - The monocarboxylate transporter 8 (MCT8) is a specific thyroid hormone transporter and plays an essential role in fetal development. Inactivating mutations in the MCT8 encoding gene SLC16A2 (solute carrier family 16, member 2) lead to the Allan-He...

Brain Gene Expression in Systemic Hypothyroidism and Mouse Models of MCT8 Deficiency: T...
Thyroid : Official Journal of the American Thyroid Associ... Morte B, Gil-Ibañez P et. al.

Dec 15th, 2020 - Background: The monocarboxylate transporter 8 (Mct8) protein is a primary thyroxine (T4) and triiodothyronine (T3) (thyroid hormone [TH]) transporter. Mutations of the MCT8-encoding, SLC16A2 gene alter thyroid function and TH metabolism and severe...

Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.
Thyroid : Official Journal of the American Thyroid Associ... Wilpert NM, Krueger M et. al.

Mar 8th, 2020 - Background: Mutations of monocarboxylate transporter 8 (MCT8), a thyroid hormone (TH)-specific transmembrane transporter, cause a severe neurodevelopmental disorder, the Allan-Herndon-Dudley syndrome. In MCT8 deficiency, TH is not able to reach th...

Thyroid Hormone Analogues: An Update.
Thyroid : Official Journal of the American Thyroid Associ... Zucchi R

Feb 27th, 2020 - The development of thyroid hormone (TH) analogues was prompted by the attempt to exploit the effects of TH on lipid metabolism, avoiding cardiac thyrotoxicosis. Analysis of the relative distribution of the α and β subtypes of nuclear TH receptors ...

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