Associated Papers
Systematic alanine scanning of PAX8 paired domain reveals functional importance of the N-subdomain.
Iwahashi M et al.
Journal of Molecular Endocrinology, 2019
Transient PAX8 Expression in Islets During Pregnancy Correlates With β-Cell Survival, Revealing a Novel Candidate Gene in Gestational Diabetes Mellitus.
Martin-Montalvo A et al.
Diabetes, 2019
PAX8 pathogenic variants in Chinese patients with congenital hypothyroidism.
Fu C et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
Two cases of thyroid dysgenesis caused by different novel PAX8 mutations in the DNA-binding region: in vitro studies reveal different pathogenic mechanisms.
Hermanns P et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
Functional characterization of four novel PAX8 mutations causing congenital hypothyroidism: new evidence for haploinsufficiency as a disease mechanism.
Narumi S et al.
European Journal of Endocrinology, 2012
Characterization of a novel loss-of-function mutation of PAX8 associated with congenital hypothyroidism.
Di Palma T et al.
Clinical Endocrinology, 2010
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