Publications by authors named "Ping-Hui Tu"
Background: Genetic defects in the human thyroid-stimulating hormone (TSH) receptor () gene can cause congenital hypothyroidism (CH). However, the biological functions and comprehensive genotype-phenotype relationships for most variants associated with CH remain unexplored. We aimed to identify variants in Chinese patients with CH, analyze the functions of the variants, and explore the relationships between genotypes and clinical phenotypes.
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- The study investigates the causes of thyroid dysgenesis (TD) by analyzing specific thyroid cells in mice and their behavior in zebrafish embryos.
- Researchers identified a group of thyrocytes activated by NF-κB that maintain a unique phenotype and are essential for forming new thyroid follicles.
- The results indicate that myeloid cells and their secretion of TNF-α are crucial for the movement of thyrocytes, which is important for proper thyroid development.
Introduction: Congenital hypothyroidism (CH), the most common neonatal endocrine disorder worldwide, can be caused by variants in the thyroid peroxidase (TPO) gene. This study aimed to identify TPO variants in Chinese patients with CH, analyze their impact on TPO function, and establish relationships between TPO genotypes and clinical characteristics.
Methods: A total of 328 patients with CH were screened for TPO variants by performing whole-exome sequencing.
Article Synopsis
- The study investigates the toxic effects of two anti-cancer drugs, pazopanib and axitinib, on thyroid function using zebrafish as a model organism.
- Researchers measured thyroid hormone levels, gene expression changes, and thyroid morphology using various scientific methods including ELISA and confocal microscopy.
- Results showed that exposure to these drugs significantly impaired zebrafish development and altered thyroid hormone levels and structure, indicating potential thyroid toxicity linked to the drugs' impact on the hypothalamus-pituitary-thyroid axis.
Background: In several countries, thyroid dyshormonogenesis is more common than thyroid dysgenesis in patients with congenital hypothyroidism (CH). However, known pathogenic genes are limited to those directly involved in hormone biosynthesis. The aetiology and pathogenesis of thyroid dyshormonogenesis remain unknown in many patients.
View Article and Find Full Text PDFCongenital hypothyroidism (CH) is a highly prevalent but treatable neonatal endocrine disorder. Thyroid dyshormonogenesis is the main cause of congenital hypothyroidism in Chinese CH patients, and DUOX2 is the most frequent mutated gene involved in H2O2 production. In humans, the primary sources for H2O2 production are DUOX1 and DUOX2, while in zebrafish there is only a single orthologue for DUOX1 and DUOX2.
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