The mechanisms of bifurcation, a key step in thyroid development, are largely unknown. Here we find three zebrafish lines from a forward genetic screening with similar thyroid dysgenesis phenotypes and identify a stop-gain mutation in hgfa and two missense mutations in met by positional cloning from these zebrafish lines. The elongation of the thyroid primordium along the pharyngeal midline was dramatically disrupted in these zebrafish lines carrying a mutation in hgfa or met.
View Article and Find Full Text PDFEcotoxicol Environ Saf
January 2024
Chlordane, a previously extensively utilized insecticidal pesticide, has since been prohibited, however, owing to its limited degradability, it continues to persist significantly in soil and water reservoirs, subsequently accumulating within plant and animal organisms, representing a substantial threat to human health. Despite extensive research conducted over the past few decades to investigate the toxic effects of chlordane, there remains a notable dearth of studies focusing on its impact on sleep activity. Therefore, in this study, the effects of short-term and long-term exposure to chlordane on the activity and sleep of Drosophila were investigated.
View Article and Find Full Text PDFBackground: 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 PDFFront Endocrinol (Lausanne)
February 2023
Background: ISL LIM homeobox 2, also known as insulin gene enhancer protein ISL-2 (), is a transcription factor gene that participates in a wide range of developmental events. However, the role of in the hypothalamus-pituitary-thyroid axis is largely unknown. In the present study, we characterized the expression patterns of and revealed its regulative role during embryogenesis using zebrafish.
View Article and Find Full Text PDFBiochem Biophys Res Commun
January 2023
The thyroid follicular cells originate from the foregut endoderm and elucidating which genes and signaling pathways regulate their development is crucial for understanding developmental disorders as well as diseases in adulthood. We exploited unique advantages of the zebrafish model to carry an ENU-based forward mutagenesis screen aiming at identifying genes involved in the development and function of the thyroid follicular cells. ENU is an excellent chemical mutagen due to its high mutation efficiency and an indiscriminate selection of genes.
View Article and Find Full Text PDFJ Clin Res Pediatr Endocrinol
March 2022
Objective: Defects in the human solute carrier family 26 member 4 () gene are reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify mutations in Chinese patients with CH and analyze the function of the mutations.
Methods: Patients with primary CH were screened for 21 CH candidate genes mutations by targeted next-generation sequencing.
We compared the prognostic value of nutritional or volumetric parameters measured by body composition in hospitalized patients on maintenance hemodialysis. We conducted a cohort study to assess the association of different parameters of body composition with all-cause mortality in inpatients admitted to our nephrology department from January 2014 to December 2016. Of the 704 study patients, 160 (22.
View Article and Find Full Text PDFBackground: The nucleobindin 2 () gene encodes the NUCB2 protein, which plays a critical role in glucose metabolism and diabetes. This study explored the correlation between genetic variants and type 2 diabetes mellitus (T2DM). The study further examined the different variants that confer risk to T2DM in Chinese Han populations.
View Article and Find Full Text PDFBackground: With several susceptibility single nucleotide polymorphisms identified by case-control association studies, Graves' disease is one of the most common forms of autoimmune thyroid disease. In this study, we aimed to determine whether any observed differences in genetic associations are influenced by sex in Chinese Han populations.
Methods: A total of 8,835 patients with Graves' disease and 9,936 sex-matched healthy controls were enrolled in the study.
Inborn defects in thyroid hormone biosynthesis contribute to nearly half of congenital hypothyroidism (CH) cases in China. The thyroid peroxidase (TPO) mutation is one of the most frequent mutations that results in thyroid dyshormonogenesis. In this study, 35 non-synonymous mutations in 15 TPO sites, including 6 novel mutations, were identified in 230 Chinese patients with CH.
View Article and Find Full Text PDFBackground: This study aimed to determine independent risk loci of Graves' disease (GD) in the thyroglobulin (TG) region.
Methods: In this two-staged association study, a total of 9,757 patients with GD and 10,626 sex-matched controls were recruited from Chinese Han population. Illumina Human660-Quad BeadChips in the discovery stage and TaqMan SNP Genotyping Assays in the replication stage were used for genotyping.
Background: Defects in the human thyroid stimulating hormone receptor (TSHR) gene are reported to be one of the causes of congenital hypothyroidism (CH). We aimed to identify mutations in Chinese patients with CH and analyze the relationships between TSHR phenotypes and clinical phenotypes.
Methods: 220 patients with primary CH were screened for TSHR mutations by performing next-generation sequencing.
Aim: To understand the agreement, precision, and accuracy between other estimated glomerular filtration rate (eGFR) equations and the Chronic Kidney Disease Epidemiology Collaboration (CKD-EPI) creatinine-cystatin C equation (EPI_Cr_CysC).
Materials And Methods: We conducted a cross-sectional study of 1,913 CKD patients. The eGFRs were calculated separately by creatinine clearance rate and Cockcroft-Gault equation corrected for standard body surface area (Ccr_BSA and eCcr_BSA); CKD-EPI creatinine equation (EPI_Cr); CKD-EPI cystatin C equation (EPI_CysC); EPI_Cr_CysC equation; Modification of Diet in Renal Disease (MDRD) Study equation with standardized serum creatinine; and full-age spectrum creatinine equation (FAS).
Wound dressings with long-term antimicrobial activity are highly desired for treatment of chronic wound infections. Herein, the sustained antimicrobial wound dressings were developed by using antibiotic agents, ciprofloxacin HCL (CIP) and gentamicin sulfate (GS), covalent bonding to natural polymer matrix composites, carboxymethyl chitosan (CMC) and collagen (COL). By amide bond formation between antibiotic agents and polymer chains, two antimicrobial wound dressings CMC-COL-CIP and CMC-COL-GS were prepared.
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