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Article

A disease-associated mutation in thyroid hormone receptor α1 causes hearing loss and sensory hair cell patterning defects in mice.

Science signaling - 14 Jun 2022

Affortit Corentin, Blanc Fabian, Nasr Jamal, Ceccato Jean-Charles, Markossian Suzy, Guyot Romain, Puel Jean-Luc, Flamant Frédéric, Wang Jing

Abstract excerpt

Resistance to thyroid hormone due to mutations in THRA, which encodes the thyroid hormone receptor α (TRα1), shows variable clinical presentation. Mutations affecting TRβ1 and TRβ2 cause deafness in mice and have been associated with deafness in humans. To test whether TRα1 also affects hearing function, we used mice heterozygous for a frameshift mutation in Thra that is similar to human THRA mutations (ThraS1/+...

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PMID: 35700264
DOI: 10.1126/scisignal.abj4583

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