Associated Papers
Epigenetic, Genetic, and Functional Germline Alterations of PAX Genes in Human Pathology: A Comprehensive Update.
Gomez VL et al.
Current Issues in Molecular Biology, 2026
A patient with congenital hypothyroidism due to a PAX8 frameshift variant accompanying a urogenital malformation.
Tanase-Nakao K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2022
Complicated Relationship between Genetic Mutations and Phenotypic Characteristics in Transient and Permanent Congenital Hypothyroidism: Analysis of Pooled Literature Data.
Long W et al.
International Journal of Endocrinology, 2020
32565793 (PubMed )
Supplement: 6808517.f1.zip › 6808517.f1 › supplement_table_1.xlsx › Supplement_Table_1
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
A de novo 10.79 Mb interstitial deletion at 2q13q14.2 involving PAX8 causing hypothyroidism and mullerian agenesis: a novel case report and literature review.
Ma D et al.
Molecular Cytogenetics, 2014
A new PAX8 mutation causing congenital hypothyroidism in three generations of a family is associated with abnormalities in the urogenital tract.
Carvalho A et al.
Thyroid : Official Journal of the American Thyroid Association, 2013
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