About 93 results

ALLMedicine™ Allan-herndon-dudley Syndrome Center

Research & Reviews  37 results

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...

Thyroid hormone, gene expression, and Central Nervous System: Where we are.
Seminars in Cell & Developmental Biology; Giannocco G, Kizys MML et. al.

Sep 28th, 2020 - Thyroid hormones (TH; T3 and T4) play a fundamental role in the fetal stage to the adult phase, controlling gene and protein expression in virtually all tissues. The endocrine and CNS systems have relevant interaction, and the TH are pivotal for t...

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...

Allan-Herndon-Dudley Syndrome - GeneReviews® - NCBI Bookshelf

Jan 16th, 2020 - Allan-Herndon-Dudley syndrome (AHDS), an X-linked disorder, is characterized in males by neurologic findings (hypotonia and feeding difficulties in infancy, developmental delay / intellectual disability ranging from mild to profound) and later-ons...

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