Autosomal recessive complete INF-γ receptor-2 (IFN-γR2) deficiency is a rare, potentially fatal primary immune deficiency that predisposes to disseminated mycobacterial disease. Hematopoietic stem cell transplantation (HSCT) is currently the only curative treatment. Few patients have been reported so far.
View Article and Find Full Text PDFCircular RNAs (circRNAs) are a class of endogenous non-coding RNAs (ncRNAs) involved in regulating skeletal muscle development by sponging miRNAs. In this study, we found that the circMYL1 expression was down-regulated during myoblast proliferation, while gradually up-regulated in myoblast differentiation. The potential role of circMYL1 was identified in the proliferation of bovine myoblast through mRNA and protein expression of proliferation marker genes (, , and ), cell counting kit-8 assay, flow cytometry analysis, and 5-ethynyl 2'-deoxyuridine (EdU) assay.
View Article and Find Full Text PDFDNA methylation, which can affect the expression level of genes, is one of the most vital epigenetic modifications in mammals. Fibroblast growth factor receptor 1 (FGFR1) plays an important role in muscle development; however, DNA methylation of the FGFR1 promoter has not been studied to date in cattle. Our study focused on methylation of the FGFR1 promoter and its effect on bovine myoblast proliferation and differentiation.
View Article and Find Full Text PDFProlactin is a highly versatile pituitary hormone with multiple biological functions. expression is regulated by and the prophet of (). The aim of this study was to investigate the indel variations in ovine and the directly related ( and ) genes, and their associations with growth traits in Luxi Blackhead (LXBH) sheep.
View Article and Find Full Text PDFCopy number variations (CNVs) are gains and losses of genomic sequence of more than 50 bp between two individuals of a species. Also, CNV is considered to be one of the main elements affecting the phenotypic diversity and evolutionary adaptation of animals. ORMDL sphingolipid biosynthesis regulator 1 () is a protein-coding gene associated with diseases and development.
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