Identification and functional characterization of a novel PAX8 mutation (p.His39Pro) causing familial thyroid hypoplasia
Author:
Affiliation:
1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan
2. Department of Pediatrics, Hamamatsu University School of Medicine, Hamamatsu, Japan
Publisher
Japanese Society for Pediatric Endocrinology
Subject
Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health
Link
https://www.jstage.jst.go.jp/article/cpe/29/4/29_2020-0034/_pdf
Reference31 articles.
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2. 2. Zannini, M, Francis-Lang, H, Plachov, D, Di Lauro, R. Pax-8, a paired domain-containing protein, binds to a sequence overlapping the recognition site of a homeodomain and activates transcription from two thyroid-specific promoters. Mol Cell Biol 1992;12: 4230–41.
3. 3. Guazzi, S, Price, M, De Felice, M, Damante, G, Mattei, MG, Di Lauro, R. Thyroid nuclear factor 1 (TTF-1) contains a homeodomain and displays a novel DNA binding specificity. EMBO J 1990;9: 3631–9.
4. 4. Lazzaro, D, Price, M, de Felice, M, Di Lauro, R. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991;113: 1093–104.
5. 5. Zannini, M, Avantaggiato, V, Biffali, E, Arnone, MI, Sato, K, Pischetola, M, et al. TTF-2, a new forkhead protein, shows a temporal expression in the developing thyroid which is consistent with a role in controlling the onset of differentiation. EMBO J 1997;16: 3185–97.
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