Bioinformatics analysis identifies immune-related gene signatures and subtypes in diabetic nephropathy.

Background: Systemic inflammation and immune response are involved in the pathogenesis of diabetic nephropathy (DN). However, the specific immune-associated signature during DN development is unclear. Our study aimed to reveal the roles of immune-related genes during DN progression.

Effect of a high vs. standard dose of vitamin D3 supplementation on bone metabolism and kidney function in children with chronic kidney disease.

We investigated the effects of high- vs. standard-dose vitamin D supplementation on kidney function and bone metabolism in children with chronic kidney disease (CKD). Children were randomized to receive one of two formulations: 75 participants received 2,000 IU/D of oral supplementation of vitamin D, while 75 participants received 400 IU/d for a minimum of 4 months.

Long non-coding RNA NEAT1 regulates endothelial functions in subclinical hypothyroidism through miR-126/TRAF7 pathway.

Subclinical hypothyroidism (SCH) is associated with increased risks of endothelial dysfunction and atherosclerosis, but the mechanisms remain unclear. In our previous study, microRNA-126-3p was downregulated in SCH, but the role and regulatory mechanism of miR-126 in SCH has not been investigated. A SCH mouse model was established by feeding mice methimazole.

Genetic and functional analysis of two missense mutations in congenital hypothyroidism and goiter.

Mutations in the dual oxidase 2 gene () impair hydrogen peroxide (HO) production and cause dyshormonogenesis. In addition, these mutations have been implicated in autosomal recessive congenital hypothyroidism (CH) with goiter. In this study, we identified mutations that were causative for CH and explored the effects of these mutations on DUOX2 function.

Genotypes and phenotypes of congenital goitre and hypothyroidism caused by mutations in dual oxidase 2 genes.

Objective: The aim of this study was to screen for DUOX2, TPO and TG mutations in Chinese patients with congenital hypothyroidism (CH) and goitre and to define the relationships between DUOX2 genotypes and clinical phenotypes.

Methods: Blood samples were collected from 67 patients with CH and goitre in Shandong Province, China. Genomic DNA was extracted from peripheral blood leucocytes.