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Article

Concurrent TSHR mutations and DIO2 T92A polymorphism result in abnormal thyroid hormone metabolism.

Scientific reports - 4 Jul 2018

Park Eunkuk, Jung Jaehoon, Araki Osamu, Tsunekawa Katsuhiko, Park So Young, Kim Jeonghyun, Murakami Masami, Jeong Seon-Yong, Lee Sihoon

Abstract excerpt

Deiodinase 2 (DIO2) plays an important role in thyroid hormone metabolism and its regulation. However, molecular mechanism that regulates DIO2 activity remains unclear; only mutaions in selenocysteine insertion sequence binding protein 2 and selenocysteine tranfer RNA (tRNA[Ser]Sec) are reported to result in decreased DIO2 activity. Two patients with clinical evidence of abnormal thyroid hormone metabolism were...

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Share to Hypothyroidism
Share to Iodide Peroxidase

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Iodothyronine Deiodinase Type II

Share to Receptors, Thyrotropin

Share to Thyroid Diseases

Share to Thyrotropin

Share to Thyroxine

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Source

Open in PubMed Open full text

Identifiers

PMID: 29973617
DOI: 10.1038/s41598-018-28480-0
PMCID: PMC6031622

Genes

DIO2
TSHR

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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