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Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder characterized by hyperuricemia and progressive chronic kidney disease. Uromodulin gene (UMOD) mutations, leading to abnormalities of uromodulin intracellular trafficking contribute to the progress of the disease.We did UMOD screening in three Chinese FJHN families. We thus constructed mutant uromodulin express plasmids...
Differential expression of ubiquitin was previously reported between Plutella xylostella strains that are resistant or susceptible to the pesticide deltamethrin (DM). This finding hinted at the potential involvement of ubiquitin in deltamethrin resistance, a theory that demanded further testing. Real-time PCR analyses revealed that one of the ubiquitin genes, UBL40, was overexpressed in the deltamethrin-resistant...
The major histocompatibility complex (MHC) class I genes play a pivotal role in the adaptive immune response among vertebrates. Accordingly, in numerous mammals the genomic structure and molecular characterization of MHC class I genes have been thoroughly investigated. To date, however, little is known about these genes in tree shrews, despite the increasingly popularity of its usage as an animal...
Neutrophil extracellular traps (NETs) were closely associated with activation of type I interferon (IFN) pathway in systemic lupus erythematosus (SLE). We aimed to study the genetic basis of NETs-DEFA1A3 copy number variations (CNV) in SLE and HapMap CHB+JPT populations by quantitative real-time PCR and whole genome sequences data. DEFA1A3 CNs did not differ significantly between SLE patients and...
ΔNp73 has emerged as an interesting novel factor in cancer research. Here, we report the effect of carbon-ion beams on ΔNp73 expression in human cervix carcinoma HeLa cells in contrast to the effect of X-rays. Cellular sensitivities were determined by colony formation. Radiation-induced cell cycle arrest was investigated with flow cytometry. Additionally, radiation-induced apoptosis was analyzed with...
AMP-activated protein kinase (AMPK) has been proposed to act as a key energy sensor mediating the metabolism of glucose and lipids, and pharmacological activation of AMPK may provide a new strategy for the management of type 2 diabetes. MicroRNAs (miRNAs) are a group of endogenous noncoding RNA that play important roles in many biological processes including energy metabolism. Whether miRNAs mediate...
Disease-induced polygalacturonase-inhibiting proteins (PGIPs) are the major defense proteins which play an important role in resistance to infection of pathogens. To date, the AtPGIP expression in Arabidopsis induced by Stemphylium solani (S. solani) was not described. Here the distribution of AtPGIPs and their expression induced by S. solani infection in Arabidopsis was reported. Notably, immunofluorescence...
Several studies have been conducted to examine the association between PPAR-γ2 Pro12Ala polymorphism and polycystic ovary syndrome (PCOS), but the results remain inconsistent. To make a more precise estimation of the relationship, a meta-analysis was performed. In the current meta-analysis, a total of 17 case–control studies, including 2176 cases and 2373 controls, were selected. Odds ratios (ORs)...
13q deletion syndrome is a rare genetic disorder caused by deletions of the long arm of chromosome 13. Patients with 13q deletion display a variety of phenotypic features. We describe a one-year-old female patient with congenital heart defects (CHD), facial anomalies, development and mental retardation. We identified a 12.75Mb deletion in chromosome region 13q33.1-34 with high resolution SNP Array...
This study was designed to investigate the single nucleotide polymorphism (SNP) in intron 1 of the gene A-FABP in 127 Junmu No. 1 white swine using PCR–SSCP. The association between the polymorphism and meat quality traits was also studied. The cloning and sequencing results indicated that the polymorphism of intron 1 was due to a point mutation in position 3481bp of A-FABP, giving 3 genotypes (CC,...
With the exception of base excision repair, conserved pathways and mechanisms that maintain mitochondrial genome stability have remained largely undelineated. In the budding yeast, Saccharomyces cerevisiae, Pif1p is a unique DNA helicase that is localized both to the nucleus and mitochondria, where it is involved in maintaining DNA integrity. We previously elucidated a role for Pif1p in oxidative...
Analysis of polyA-selected RNAs and cDNA clones from several human cell lines revealed the presence of a 93-bp exon in the PI kinase homology region of DNA-PK cs that was not present in the cDNA sequence derived from HeLa cell cDNA clones. RT-PCR showed that most DNA-PK cs mRNAs in human cells have this exon. Thus, the nascent DNA-PK cs polypeptide is composed...
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