Article
Functional analysis of novel genetic variation in the thyroid hormone activating type 2 deiodinase.
The Journal of clinical endocrinology and metabolism - 1 Nov 2014
Zevenbergen Chantal, Klootwijk Wim, Peeters Robin P, Medici Marco, de Rijke Yolanda B, Huisman Sylvia A, Goeman Henk, Boot Erik, de Kuijper Gerda, de Waal K Herman, Meima Marcel E, Larsen P Reed, Visser Theo J, Visser W Edward
Abstract excerpt
CONTEXT: Thyroid hormones (TH) are important for normal brain development and abnormal TH regulation in the brain results in neurocognitive impairments. The type 2 deiodinase (D2) is important for local TH control in the brain by generating the active hormone T3 from its precursor T4. Dysfunction of D2 likely results in a neurocognitive phenotype. No mutations in D2 have been reported yet. OBJECTIVE: The...
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