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Enormously growing genomic datasets present a new challenge on missing data imputation, a notoriously resource-demanding task. Haplotype imputation requires ethnicity-matched references. However, to date, haplotype references are not available for the majority of populations in the world. We explored to use existing unphased genotype datasets as references; if it succeeds, it will cover almost all...
Congenital hyperinsulinism (CHI) is a severe heterogeneous disorder due to dysregulation of insulin secretion from the pancreatic β-cells leading to severe hypoglycemia in infancy. 18-fluoro-l-3,4-dihydroxyphenylalanine positron emission tomography (18F‑DOPA‑PET)/CT is a useful tool in distinguishing between focal and diffuse disease preoperatively. But recent studies have suggested that the scanning...
Th17 cells are a lineage of CD4+ T helper cells in immune system which differentiate from naïve CD4+ T cells and have demonstrated to play a critical role in the pathogenesis of different autoimmune disorders. miRNAs are a novel group of non-coding RNAs which participate in post-transcriptional regulation of gene expression mostly by pairing with 3′UTR of their mRNA targets and inhibition of its translation...
The sodium iodide symporter (NIS) (solute carrier family 5; SLC5A), mediates the active transport of iodine anion (I−) into thyroid follicular cells to facilitate thyroid hormone biosynthesis. Considering its fundamental role in thyroid function, our objective in this study is to explore its potential involvement in the pathogenesis of differentiated thyroid cancer (DTC). Following a preliminary sequencing...
The complete mitogenome of Chroicocephalus saundersi was characterized and compared with the 6 published Charadriiformes mitogenomes. The mitogenome of C. saundersi is a closed circular molecule 16,739bp in size, and contains 37 genes and a control region. The AT and GC skews are positive and negative, respectively, and in agreement with those of the other Charadriiformes mitogenomes. The mitogenome...
Colorectal cancer (CRC) is one of the leading causes of mortality worldwide. DNA methylation is an important epigenetic modification for CRC. Although currently a number of studies about DNA methylation of protein coding genes have been carried out, only a few are about the methylation of genes encoding the long noncoding RNAs (lncRNAs). In this study, we identified 761 lncRNA genes with DNA hypermethylation...
S-adenosylmethionine synthetase (SAMS) catalyzes the formation of S-adenosylmethionine (SAM) which is a molecule essential for polyamines and ethylene biosynthesis, methylation modifications of protein, DNA and lipids. SAMS also plays an important role in abiotic stress response. Chorispora bungeana (C. bungeana) is an alpine subnival plant species which possesses strong tolerance to cold stress....
Ribosomal DNA (rDNA) in the human genome is represented by tandem repeats of 43kb nucleotide sequences that form nucleoli organizers (NORs) on each of five pairs of acrocentric chromosomes. RDNA-similar segments of different lengths are also present on (NOR)− chromosomes. Many of these segments contain nucleotide substitutions, supplementary microsatellite clusters, and extended deletions. Recently,...
The loss of two gene clusters encoding small nucleolar RNAs, SNORD115 and SNORD116 contribute to Prader–Willi syndrome (PWS), the most common syndromic form of obesity in humans. SNORD115 and SNORD116 are considered to be orphan C/D box snoRNAs (SNORDs) as they do not target rRNAs or snRNAs. SNORD115 exhibits sequence complementarity towards the serotonin receptor 2C, but SNORD116 shows no extended...
A number of studies have been conducted to investigate associations between genetic polymorphisms in interleukin-17 (IL-17) pathway and the risk of gastrointestinal diseases. Results, however, have been inconclusive. We aimed to evaluate these associations through a meta-analysis.We searched electronic databases (PubMed, Embase, Web of Science, CBM and CNKI) to identify papers, published before October...
We have previously demonstrated that cerebrospinal fluid-derived B cells from early relapsing–remitting multiple sclerosis (RRMS) patients that express a VH4 gene accumulate specific replacement mutations. These mutations can be quantified as a score that identifies such patients as having or likely to convert to RRMS. Furthermore, we showed that next generation sequencing is an efficient method for...
RNAi-based technologies have the potential to augment, or replace existing pest management strategies. However, some insect taxa are less susceptible to the induction of the post-transcriptional gene silencing effect than others, such as the Lepidoptera. Here we describe experiments to investigate the induction of RNAi in the codling moth, Cydia pomonella, a major lepidopteran pest of apple, pear,...
Recent studies have reported that embryonic stem (ES) cell-associated gene expression signatures have been identified in poorly differentiated tumors, revealing a link between ES cell identity and cancer cells. Cancer cells originate from cancer stem cells (CSCs). Both types of cells share common properties such as self-renewal and heterogeneity. CSCs are also resistant to conventional chemotherapy...
Convergence often occurs when organisms with different ancestors adopt similar adaptations to environmental stresses. Convergent (sometimes called parallel) evolution at the genetic level is now known to be more common than previously suspected. Studying convergent evolution at the molecular level makes it possible to gain a better understanding of the common mechanisms deployed by different species...
Overgrowth syndromes are a heterogeneous group of diseases characterized by focal or generalized overgrowth. Many of the syndromes have overlapping clinical features and it is difficult to diagnose the condition based on clinical features alone. In the present study we report on a patient with overgrowth syndrome where extensive investigation did not reveal the cause of disease. Finally exome sequencing...
The aim of this study was to investigate the genetic diversity and genetic structure of the striped field mouse Apodemus agrarius coreae in Korea. The Korean A. a. coreae is characterized by high levels of haplotype diversity (Hd=0.967) and low levels of nucleotide diversity (π=0.00683). Haplogroup 1 is well separated from the haplotypes of the neighboring regions of the Korean Peninsula, while the...
Purine repeat sequences present in the human genome are known to act as hotspots for mutations leading to chromosomal imbalances. It is established that large purine repeats (PRs) form stable DNA triplex structure which can inhibit gene expression. Friedreich's ataxia (FRDA), the autosomal neurodegenerative disorder is the only human disease known so far, where a large purine (GAA) repeat in the FXN...
Cockayne Syndrome (CS) is an autosomal recessive disorder that causes neurological regression, growth failure and dysmorphic features. We describe a Chinese female child with CS caused by deletions of exon 4 of ERCC8 on one chromosome and exons 1–12 on the other chromosome. By using chromosomal microarray, multiplex ligation-dependant probe analysis and long range PCR, we showed that she inherited...
MicroRNAs are a class of small, non-coding RNAs that participate in the regulation of diverse biological processes including skeletal muscle development. However, the underlying molecular mechanisms are not fully understood, particularly in goat. Here, we identified goat miR-101a as a novel myogenic microRNA mediating myogenic differentiation. The expression of miR-101a was enriched in goat skeletal...
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