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The t(12;21)(p13;q22) with ETV6-RUNX1 fusion occurs in 25% of cases of B-cell precursor acute lymphoblastic leukemia (BCP-ALL); and is generally associated with favorable prognosis. However, 15–20% of the t(12;21)-positive cases are associated with high-risk disease due to for example slow early responses to therapy. It is well-known that development of overt leukemia in t(12;21)-positive ALL requires...
Transforming growth factor beta (TGF-β) is an important cytokine with pleiotropic regulatory functions in the immune system and in the responses against viral infections. TGF-β acts on a variety of immune cells through the cell surface TGF-β receptor (University of Duisburg-EssenTGFBR). The woodchuck has been used as a biomedical model for studies of obesity and energy balance, endocrine and metabolic...
Osteogenesis imperfecta (OI) is a genetic disorder characterised by low bone mineral density resulting in fractures. 85–90% of patients with OI carry a variant in the type 1 collagen genes, COL1A1 and COL1A2, which follows an autosomal dominant pattern of inheritance. However, within the last two decades, there have been growing number of variants identified in genes that follow an autosomal recessive...
As the most common form of birth defect in humans, congenital heart disease (CHD) is associated with substantial morbidity and mortality in both children and adults. Increasing evidence demonstrates that genetic defects play a pivotal role in the pathogenesis of CHD. However, CHD is of great heterogeneity, and in an overwhelming majority of cases, the genetic determinants underpinning CHD remain elusive...
FAM3A (family with sequence similarity 3, member A) is regulated by PPARG and participates in the metabolism of lipid in liver. However, the transcriptional regulation analysis of FAM3A is very little and biological function of FAM3A still unclear. In this study, the core promoter region and transcription factor binding sites of FAM3A gene were identified and characterized using dual luciferase report...
Colorectal cancer (CRC) is a highly heterogeneous disease that is the third leading cause of cancer-related deaths worldwide. This study presents a genome-wide assessment of variations in primary colorectal cancer maintained in metastases, even in distant metastases. The purpose of this study was to determine whether intratumor heterogeneity is related to disease progression and metastasis in CRC...
Innate immunity was critical in insects defensive system and able to be induced by Janus kinase/signal transducer and activator of transcription cascade transduction (JAK/STAT) signaling pathway. Currently, it had been identified many JAK/STAT signaling pathway-related genes in silkworm, but little function was known on insect innate immunity. To explore the roles of JAK/STAT pathway in antifungal...
MicroRNAs (miRNAs) are a group of small RNAs involved in various biological processes through negative regulation of mRNAs at the post-transcriptional level.The brown planthopper (BPH), Nilaparvata lugens (Stål), is one of the most serious and destructive insect pests of rice. In the present study, two small RNA libraries of virulent N. lugens populations (Biotype I survives on susceptive rice variety...
RAB23, a member of Ras-related small GTPase family, has been reported to be up-regulated in several cancer types. However, its biological functions and the underlying molecular mechanisms for its oncogenic roles in esophageal squamous cell carcinoma (ESCC) remain unknown. In this study, we have shown that the expression of RAB23 was elevated in ESCC tissues and ESCC cells. Overexpression of RAB23...
Coronary artery disease (CAD) remains to be the prominent health problem in India, and its incidence is growing in developing countries as well. Matrix metalloproteinase 1 (MMP 1) is highly expressed in disruption-prone shoulder regions of the fibrous plaques. The present study aims to investigate association of MMP 1 gene polymorphisms (−1607 1G/2G) and serum circulating levels with CAD. The study...
This study aimed to investigate the correlations of three common single nucleotide polymorphisms (SNPs) in the PTEN gene (rs701848 T>C, rs2735343 G>C and rs112025902 A>T) with the risk of depression and depressive symptoms in a Chinese population.From July 2011 to June 2013, a total of 384 patients with depression and 400 healthy individuals were included in this study. These SNPs in the...
Colorectal cancer (CRC) is one of the most common and severe cancers worldwide. The occurrence of CRC is developed by accumulation of genetic and epigenetic alteration in colon cells. Work over the last decade has proposed that epigenetic changes such as DNA methylation, histone modification of protein coding genes play an important role in CRC development. However, the epigenetic pattern and features...
Genetic variants in miRNAs have attracted more and more attention these years because they are capable of altering miRNA function and/or expression, consequently affecting downstream biological pathways and disease risk. The rs767649 polymorphism, locating in the promoter of miR-155, was recently reported to be able to alter transcriptional activity of miR-155 and relate to lung cancer risk. In this...
Dysregulation of metabolism in hepatocytes leads to hepatic diseases such as hepatitis and non-alcoholic fatty liver disease (NAFLD). NAFLD represents a spectrum of liver diseases ranging from simple steatosis to nonalcoholic steatohepatitis (NASH). NASH is likely to progress to cirrhosis, liver failure and hepatocellular carcinoma, which lead to poor long-term prognosis. However, the exact mechanism...
Cricetulus migratorius is widely distributed in the northwestern arid regions of China. Here, the complete mitochondrial genome (mitogenome) of C. migratorius is reported, to our knowledge, for the first time. It was found to be 16,246bp in length, including 13 protein-coding genes (PCGs), 2 rRNA genes, 22 tRNA genes, and one control region, and showed characteristics typical of the vertebrate mitogenome...
The most important conditions associated with hypothyroidism is the cardiac dysfunction. Apelin is an endogenous ligand, involved in energy storage and metabolism which improves cardiac contractility. This study was done to evaluate the effects of apelin, l-Thyroxin (T4) or a combination of both, on cardiac function and mRNA expression of two contractile proteins, α and β myosin heavy chain (α-MHC...
Kisspeptin plays an important role in the reproduction and onset of puberty in vertebrates through stimulation of gonadotropin-releasing hormone (GnRH). However, the mechanisms whereby kisspeptin-related genes regulate sexual differentiation in teleosts are poorly understood. We aimed to study the relationship between the hypothalamus–pituitary–gonad (HPG) axis and sexual differentiation in relation...
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