Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.

doi:10.1172/jci.insight.167092

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Article

Mechanisms of thyrotropin receptor-mediated phenotype variability deciphered by gene mutations and M453T-knockin model.

JCI insight - 9 Jan 2024

Makkonen Kristiina, Jännäri Meeri, Crisóstomo Luís, Kuusi Matilda, Patyra Konrad, Melnyk Vladyslav, Linnossuo Veli, Ojala Johanna, Ravi Rowmika, Löf Christoffer, Mäkelä Juho-Antti, Miettinen Päivi, Laakso Saila, Ojaniemi Marja, Jääskeläinen Jarmo, Laakso Markku, Bossowski Filip, Sawicka Beata, Stożek Karolina, Bossowski Artur, Kleinau Gunnar, Scheerer Patrick, FinnGen FinnGen, Reeve Mary Pat, Kero Jukka

Abstract excerpt

The clinical spectrum of thyrotropin receptor-mediated (TSHR-mediated) diseases varies from loss-of-function mutations causing congenital hypothyroidism to constitutively active mutations (CAMs) leading to nonautoimmune hyperthyroidism (NAH). Variation at the TSHR locus has also been associated with altered lipid and bone metabolism and autoimmune thyroid diseases. However, the extrathyroidal roles of TSHR and...

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PMID: 38194289
DOI: 10.1172/jci.insight.167092
PMCID: PMC11143923

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TSHR

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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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