Background: Renal cell carcinoma (RCC) is a common urological cancer, and its risk correlates with environmental factors such as obesity, smoking and hypertension. Microarray technology enables ...analysis of the expression pattern of the whole phosphatome, members of which are involved in many cellular pathways and may act as either tumour suppressors or oncogenes in cancers. Materials and Methods: We analysed data for the expression level of 87 out of 107 known protein phosphatase genes included in the Hugo Gene Nomenclature Committee Website for 72 RCC tissues and paired healthy tissues obtained from the GEO Database. Results: Our analysis revealed overexpression of DUSP1, DUSP4, PTP4A3, PTPRC and PTPRE genes at all examined stages of RCC. Moreover, we found overexpression of PTPN12 at stage 2, overexpression of CDKN3 at stages 3 and 4, and overexpression of DUSP10 and PTPN22 at stages 2, 3 and 4. Lower expression of DUSP9, PTPR9 and PTPRO was also observed at all stages. Conclusion: Significant changes in expression patterns of protein tyrosine phosphatase genes confirm the involvement of this group in crucial carcinogenesis pathways underlying RCC. Thus, we postulate that protein tyrosine phosphatases play an important role in RCC promotion and progression, and may be considered as potential therapeutic targets.
•The textile fabrics were modified with RGO by reactive inkjet printing.•The printed RGO layers were used as active material for supercapacitor.•The as-obtained supercapacitor exhibited a specific ...capacitance of 79.9 F/g.
In this work, a reactive inkjet printing (RIP) has been proposed as an useful method for the deposition of reduced graphene oxide (RGO) layers on different textile fabrics - polyacrylonitrile, poly(ethylene terephthalate), and polypropylene. Under the RIP process, the RGO layers were grown on fabrics by printing of graphene oxide (GO) suspension and simultaneously reduced by L-ascorbic acid. This strategy is a simple and one step process to grow conductive layers of RGO on textile substrates at large scale without any post treatment and does not require any corrosive reagent during the process. Thus, obtained binder-free RGO on textile fabrics can be readily used directly as an electrode material. The applicability of the selected textile fabrics modified by RIP deposition of RGO for energy storage application was tested. For this, a flexible all-solid-state supercapacitor was constructed using two RGO coated textile fabrics as electrodes separated by gel electrolyte (poly(vinyl alcohol)/H3PO4 electrolyte). The as-obtained supercapacitor exhibited an area specific capacitance of 13.3 m F/cm2 (79.9 F/g) at a current density of 0.1 mA/cm2, and delivered an energy density of 1.18 mW h/cm2 and the power density of 4.6 mW/cm2.
This work concerns a new potassium iodide based radiochromic gel dosimeter with Pluronic F-127 gel matrix. The optimal dosimeter composition obtained in this work comprises 200 mM potassium iodide as ...a radiation sensitive colour changing compound, 200 mM fructose, 50 mM gluconic acid δ-lactone and 25% (w/w) poly(ethylene oxide)-block-poly(propylene oxide)-block-poly(ethylene oxide) (Pluronic F-127) as a physical gel matrix. The potassium iodide changes from colourless to yellow colour upon ionizing radiation and the intensity of colour increases with an increase of radiation dose. The dosimeter after irradiation was measured using UV-Vis spectrophotometry to derive basic characteristics related to dose response: threshold dose, linear and dynamic dose response, dose sensitivity as well as stability over time after irradiation. Water equivalence was also analysed with respect to other similar 3D radiochromic gel dosimeters for a broad photon energy range. The results obtained indicate that the KI-Pluronic F-127 radiochromic gel dosimeter shows potential for use in 3D radiotherapy dosimetry.
•KI-Pluronic F-127 3D radiochromic dosimeter is characterised.•Low threshold dose and wide linear and dynamic dose range were reported.•Water equivalence of the dosimeter is for 30–50 MeV photon energy range.
To perform a genome-wide characterization of changes in microRNA (miRNA) expression during the course of venom immunotherapy (VIT).
miRNA was isolated from the whole-blood of 13 allergic patients and ...14 controls, who experienced no allergic reaction upon stings by honeybees and wasps. We analyzed 2549 miRNAs from the whole blood of these patients prior to VIT and 12 months after the start of VIT. The results for differential expression obtained on a microarray platform were confirmed by quantitative real-time PCR. Out of the 13 patients, 8 had a negative allergic reaction with VIT, thus indicating that this approach was successful.
By comparing time points before and 12 months after ultrarush VIT, correlation analysis and principal component analysis both indicated a limited effect of VIT on the overall miRNA expression pattern. Volcano plot analysis based on raw P values revealed few deregulated miRNAs, most of which were increasingly expressed after VIT as compared with before VIT. Based on the 50 most altered miRNAs, no clear clustering was observed before or after VIT.
Our results indicate an overall reduced effect of VIT on the miRNA expression pattern in whole blood.
A clinical case is described of growth retardation, severe developmental delay, facial dysmorphic features with microcephaly, as well as congenital cataract, schizencephaly, periventricular ...calcifications, and epilepsy.
TORCH infection was suspected, but all tests for toxoplasmosis, rubella, cytomegalovirus, and herpes simplex virus were negative for the child and her mother; however, an increased level of antibodies against parvovirus B19 was detected in the proband.
Chromosomal analysis and array-CGH showed no aberration. Target capture sequencing for COL4A1 and COL4A2 revealed a de novo COL4A1 mutation (c.2123G>T p.Gly708Val). The mutation occurred at a highly conserved Gly residue in the Gly-X-Y repeat of the collagen triple helical domain, suggesting that these mutations may alter the collagen IV α1α1α2 heterotrimers. The mutation was predicted to be damaging.
We suggest that COL4A1 testing should be considered in patients with schizencephaly as well as with phenotype suggesting TORCH infection without any proven etiological factors.
Despite great progress in research on the subject, the involvement of autophagy in colorectal cancer (CRC) pathogenesis (initiation, progression, metastasis) remains obscure and controversial. ...Autophagy is a catabolic process, fundamental to cell viability and connected with degradation/recycling of proteins and organelles. In this study, we aimed at investigating the relative expression level of mRNA via Real-Time PCR of 16 chosen genes belonging to Atg8 mammalian orthologs and their conjugation system, comprising
GABARAP, GABARAPL1, GABARAPL2, MAP1LC3A, MAP1LC3B, MAP1LC3C, ATG3, ATG7, ATG10, ATG4A, ATG4B, ATG4C, ATG4D
, and three genes encoding proteins building the multimeric ATG16L1 complex, namely
ATG5, ATG12
, and
ATG16L1
, in 73 colorectal tumors and paired adjacent normal colon mucosa. Our study demonstrated the relative downregulation of all examined genes in CRC tissues in comparison to adjacent noncancerous mucosa, with the highest rate of expression in both tumor and non-tumor tissues observed for
GAPARBPL2
and the lowest for
MAP1LC3C
. Moreover, in patients with advanced-stage tumors and high values of regional lymph nodes, statistically significant downregulation of
ATG4D
expression in adjacent normal cells was observed. Our study confirms the role of autophagy genes as cancer suppressors in colorectal carcinogenesis. Furthermore, in regard to the
ATG4D
gene, we observed the influence of tumor microenvironments on gene expression in adjacent colon mucosa.
Genetic Factors Involved in Mandibular Prognathism Doraczynska-Kowalik, Anna; Nelke, Kamil H; Pawlak, Wojciech ...
The Journal of craniofacial surgery,
07/2017, Letnik:
28, Številka:
5
Journal Article
Recenzirano
Mandibular prognathism is defined as an abnormal forward projection of the mandible beyond the standard relation to the cranial base and it is usually categorized as both a skeletal Class III pattern ...and Angle Class III malocclusion. The etiology of mandibular prognathism is still uncertain, with various genetic, epigenetic, and environmental factors possibly involved. However, many reports on its coexistence in both twins and segregation in families suggest the importance of genetic influences. A multifactorial and polygenic background with a threshold for expression or an autosomal dominant mode with incomplete penetrance and variable expressivity are the most probable inheritance patterns. Linkage analyses have, thus far, shown the statistical significance of such loci as 1p22.1, 1p22.3, 1p32.2, 1p36, 3q26.2, 4p16.1, 6q25, 11q22, 12pter-p12.3, 12q13.13, 12q23, 12q24.11, 14q24.3 to 31.2, and 19p13.2. The following appear among candidate genes: MATN1, EPB41, growth hormone receptor, COL2A1, COL1A1, MYO1H, DUSP6, ARHGAP21, ADAMTS1, FGF23, FGFR2, TBX5, ALPL, HSPG2, EVC, EVC2, the HoxC gene cluster, insulin-like growth factor 1, PLXNA2, SSX2IP, TGFB3, LTBP2, MMP13/CLG3, KRT7, and FBN3. On the other hand, MYH1, MYH2, MYH3, MYH7, MYH8, FOXO3, NFATC1, PTGS2, KAT6B, HDAC4, and RUNX2 expression is suspected to be involved in the epigenetic regulations behind the mandibular prognathism phenotype.
•Childhood traumatic events increase a risk of psychosis.•Childhood trauma might be associated with a specific psychosis manifestation.•Childhood adversities trigger specific biological alterations ...in psychosis.•Childhood trauma might predict poor prognosis in psychotic disorders.•Psychosis with positive history of childhood trauma might be a distinct phenotype.
There is a growing body of research focused on the relationship between childhood trauma and the risk of developing psychosis. Numerous studies, including many large-scale population-based studies, controlling for possible mediating variables, provide persuasive evidence of a dose-response association and are indicative of a causal relationship. Existing evidence supports the specificity model, showing differential associations between particular adversities and clinical symptoms, with cumulative adversity causing less favorable clinical and functional outcomes in psychotic patients. To date, several psychological and biological models have been proposed to search for underlying developmental trajectories leading to the onset of psychosis, influencing psychopathological manifestation and negative functional outcomes due to a history of childhood trauma. In this article, we provide a unified review on the relationship between childhood trauma and psychosis by integrating results of epidemiological, clinical, neuropsychological and biological studies. The question whether psychosis with a positive history of childhood trauma should be considered as a new psychotic phenotype, requiring specific therapeutic interventions, warrants further investigation.
The role of autophagy in colorectal cancer (CRC) pathogenesis appears to be crucial. Autophagy acts both as a tumor suppressor, by removing redundant cellular material, and a tumor-promoting factor, ...by providing access to components necessary for growth, metabolism, and proliferation. To date, little is known about the expression of genes that play a basal role in the autophagy in CRC. In this study, we aimed to compare the expression levels of 46 genes involved in the autophagy pathway between tumor-adjacent and tumor tissue, employing large RNA sequencing (RNA-seq) and microarray datasets. Additionally, we verified our results using data on 38 CRC cell lines. Gene set enrichment analysis revealed a significant deregulation of autophagy-related gene sets in CRC. The unsupervised clustering of tumors using the mRNA levels of autophagy-related genes revealed the existence of two major clusters: microsatellite instability (MSI)-enriched and -depleted. In cluster 1 (MSI-depleted),
and
genes were the most prominently expressed, whereas cluster 2 (MSI-enriched) was characterized by
upregulation. CRC cell lines were also clustered according to MSI-enriched/-depleted subgroups. The moderate deregulation of autophagy-related genes in cancer tissue, as compared to adjacent tissue, suggests a prominent field cancerization or early disruption of autophagy. Genes differentiating these clusters are promising candidates for CRC targeting therapy worthy of further investigation.
Protein tyrosine phosphatase receptor type J (
PTPRJ
,
DEP1
) is a tumour suppressor gene that negatively regulates such processes as angiogenesis, cell proliferation and migration and is one of the ...genes important for tumour development. Similar to other phosphatase genes, PTPRJ is also described as an oncogene. Among various genetic changes characteristic for this gene, single nucleotide polymorphisms (SNPs) constituting benign genetic variants that can modulate its function have been described. We focused on Gln276Pro and Arg326Gln missense polymorphisms and performed a meta-analysis using data from 2930 and 852 patients for Gln276Pro and Arg326Gln respectively in different cancers. A meta-analysis was performed based on five articles accessed via the PubMed and Research Gate databases. Our meta-analysis revealed that for Arg326Gln, the presence of the Arg (C) allele was associated with lower risk of some cancers, the strongest association was observed for colorectal cancer patients, and there was no association between Gln276Pro (G>T) polymorphism and cancer risk. The polymorphisms Arg326Gln and Gln276Pro of the
PTPRJ
gene are not associated with an increased risk of cancer except for the Arg326Gln polymorphism in colorectal cancer. Large-scale studies should be performed to verify the impact of this SNP on individual susceptibility to colorectal cancer for given individuals.
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