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Article

Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism.

Thyroid : official journal of the American Thyroid Association - 1 Feb 2021

França Monica M, German Alina, Fernandes Gustavo W, Liao Xiao-Hui, Bianco Antonio C, Refetoff Samuel, Dumitrescu Alexandra M

Abstract excerpt

Background: Iodothyronine deiodinase-1 (D1) selenoenzyme regulates the systemic supply of active thyroid hormone (TH). Transient decrease in D1 enzymatic activity is clinically relevant and adaptive in nonthyroidal illness such as fasting or acute illness. However, DIO1 gene defects have not been reported in humans. Methods: Genetic analysis was performed using whole-exome sequencing in members of two unrelated...

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Identifiers

PMID: 32718224
DOI: 10.1089/thy.2020.0253
PMCID: PMC7891200

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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