Article
Mutant Tbl1x male mice have a short life span and do not breed: unexpected findings.
Journal of molecular endocrinology - 1 Jul 2024
Hu Yalan, Codner Gemma F, Stewart Michelle, La Fleur Susanne E, van Trotsenburg Paul A S, Fliers Eric, Hennekam Raoul C, Boelen Anita
Abstract excerpt
Humans with the mutation Y509C in transducin beta like 1 X-linked (TBL1X HGNC ID HGNC:11585) have been reported to present with the combination of central congenital hypothyroidism and impaired hearing. TBL1X belongs to the WD40 repeat-containing protein family, is part of NCoR and SMRT corepressor complexes, and thereby involved in thyroid hormone signaling. In order to investigate the effects of the Y509C...
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