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About 90 results

ALLMedicine™ Allan-herndon-dudley Syndrome Center

Research & Reviews  36 results

Design and Characterization of a Fluorescent Reporter Enabling Live-cell Monitoring of ...
https://doi.org/10.1055/a-1522-8535
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...
https://doi.org/10.1089/thy.2020.0649
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.
https://doi.org/10.1089/thy.2019.0544
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...

Neural Alterations and Hyperactivity of the Hypothalamic-Pituitary-Thyroid Axis in Oatp...
https://doi.org/10.1089/thy.2019.0320
Thyroid : Official Journal of the American Thyroid Associ... Admati I, Wasserman-Bartov T et. al.

Dec 5th, 2019 - Background: The thyroid hormones (THs) triiodothyronine (T3) and thyroxine (T4) are crucial regulators of brain development and function. Cell-specific transporter proteins facilitate TH uptake and efflux across the cell membrane, and insufficient...

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