Gene finding
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In ebook "Genome instability in cancer development" studies on animal tumour viruses and chromosome rearrangements in human tumours have concurred to identify so-called ‘proto-oncogenes’ and ‘tumour suppressor genes’, whose deregulation promotes carcinogenesis. These important findings not only explain the occurrence of certain hereditary tumours, but they also set the stage for the development of anti-cancer drugs that specifically target activated oncogenes.
509p tracanhphuonghoa1007 22-04-2024 0 0 Download
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Prior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0.8–5%. We investigated the prevalence of P/LP variants in the 24 ACMG SF v2.0 cancer genes in a family-based cancer research cohort (n = 1173) and in cancer-free ethnicity-matched controls (n = 982).
9p vibransone 28-03-2024 3 2 Download
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Recent sequencing studies on healthy skin and esophagus have found that, as we age, these tissues become colonized by mutant clones of cells carrying driver mutations in traditional cancer genes. This comment summarizes these findings and discusses their possible implications for our understanding of cancer, ageing, and other diseases.
3p vibransone 28-03-2024 3 2 Download
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Identifying essential genes in genome-wide loss-of-function screens is a critical step in functional genomics and cancer target finding. We previously described the Bayesian Analysis of Gene Essentiality (BAGEL) algorithm for accurate classification of gene essentiality from short hairpin RNA and CRISPR/Cas9 genome-wide genetic screens.
11p vibransone 28-03-2024 1 1 Download
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Enabled by high-throughput sequencing approaches, epithelial cancers across a range of tissue types are seen to harbor gene fusions as integral to their landscape of somatic aberrations. Although many gene fusions are found at high frequency in several rare solid cancers, apart from fusions involving the ETS family of transcription factors which have been seen in approximately 50 % of prostate cancers, several other common solid cancers have been shown to harbor recurrent gene fusions at low frequencies.
18p vioraclene 31-03-2024 1 0 Download
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As the availability of genomic testing grows, variant interpretation will increasingly be performed by genomic generalists, rather than domain-specific experts. Demand is rising for laboratories to accurately classify variants in inherited cardiac condition (ICC) genes, including secondary findings.
15p vicwell 29-02-2024 2 2 Download
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Ebook "Metal response in Cupriavidus metallidurans - Volume I: From habitats to genes and proteins" is the first volume of a two-volume set summarizing 40 years of key research findings directly related to metal-resistant Cupriavidus/Ralstonia (Betaproteobacteria). In this first volume, the historical and geographical context of these bacteria, which are mostly found in industrial and polluted environments linked to zinc and other non-ferrous metallurgy.
97p nhanphanguyet 28-01-2024 4 2 Download
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Part 1 book "Emery’s elements of medical genetics" includes content: The history and impact of genetics in medicine, the cellular and molecular basis of inheritance, chromosomes and cell division, finding the cause of monogenic disorders by identifying disease genes, laboratory techniques for diagnosis of monogenic disorders, patterns of inheritance, population and mathematical genetics, risk calculation, developmental genetics.
223p oursky03 21-08-2023 2 2 Download
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Currently, searching for new protease inhibitors is of interest to many scientists around the world because they play an important role in controlling harmful proteases. As terrestrial bioactive resources are becoming increasingly depleted, studies are aimed at finding other sources, for example, the ocean.
10p vicaptainmarvel 21-04-2023 4 2 Download
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Circadian rhythms regulate key biological processes and the dysregulation of the intrinsic clock mechanism affects sleep patterns and obesity onset. The CLOCK (circadian locomotor output cycles protein kaput) gene encodes a core transcription factor of the molecular circadian clock influencing diverse metabolic pathways, including glucose and lipid homeostasis.
10p vinarcissa 21-03-2023 1 1 Download
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DNA methylation is an important biological form of epigenetic modification, playing key roles in plant development and environmental responses. These findings may provide valuable new insight into our understanding of the interaction between gene expression and methylation of drought responses in Populus.
11p vinarcissa 21-03-2023 4 1 Download
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Genome-wide scans for regions that demonstrate deviating patterns of genetic variation have become common approaches for finding genes targeted by selection. Several genomic patterns have been utilized for this purpose, including deviations in haplotype homozygosity, frequency spectra and genetic differentiation between populations.
14p vinarcissa 21-03-2023 3 1 Download
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Several reports indicate a commonly deleted chromosomal region independent from, and distal to the TP53 locus in a variety of human tumors. In a previous study, we reported a similar finding in a rat tumor model for endometrial carcinoma (EC) and through developing a deletion map, narrowed the candidate region to 700 kb, harboring 19 genes.
13p vinarcissa 21-03-2023 3 1 Download
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The working mechanism of the chemotherapeutic drug doxorubicin, which is frequently used in cancer treatment, its effects on cell metabolism, and pathways activated solely by doxorubicin are not fully known. Understanding these principles is important both in improving existing therapies and in finding new drug targets. Here, I describe a systems-biology approach to find a generalizable working principle for doxorubicin by superimposition of human interactome over gene datasets commonly expressed among various cancer types.
13p lyhuyenthu 31-01-2023 7 2 Download
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"Development of smart fruit crops by genome editing" discuss (i) the new findings in gene editing technologies, (ii) a comparison between them, and (iii) their applications for genetic analysis and manipulation of fruit crops. Different editing technologies, especially the CRISPR/Cas9 system, were successfully used in fruit crops such as apple, banana, cacao, citrus, grape, kiwifruit, and pear.
12p lyhuyenthu 31-01-2023 3 2 Download
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Previous studies have identified genetic variants associated with bronchopulmonary dysplasia (BPD) in extremely preterm infants. However, findings with genome-wide significance have been rare, and not replicated.
10p vihagrid 30-01-2023 9 4 Download
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In our previous genome-wide association study (GWAS) on the piglet splay leg (PSL) syndrome, the homer scaffolding protein 1 (HOMER1) was detected as a candidate gene. The aim of this work was to further verify the candidate gene by sequencing the gene and find the significantly associated mutation.
8p vihagrid 30-01-2023 4 3 Download
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Egg production is the most economically-important trait in layers as it directly influences benefits of the poultry industry. Findings in our study could provide promising genes and SNP markers to improve egg production performance based on marker-assisted breeding selection, while further functional validation is still needed in other populations.
9p vihagrid 30-01-2023 3 3 Download
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Little is known about the prognostic risk factors of endometrial cancer. Therefore, finding effective prognostic factors of endometrial cancer is the vital for clinical theranostic. In this study, we constructed an infammatory-related risk assessment model based on TCGA database to predict prognosis of endometrial cancer.
11p vihagrid 30-01-2023 8 3 Download
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Hepatocellular carcinoma (HCC) is the third-most deadly cancer worldwide. More breakthroughs are needed in the clinical practice for liver cancer are needed, and new treatment strategies are required. This study aims to determine the significant differences in genes associated with LIHC and further analyze its prognostic value further.
12p vikolindagrabar 27-07-2022 5 1 Download