Single pathway
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Pediatric low-grade glioma (pLGG) is essentially a single pathway disease, with most tumors driven by genomic alterations affecting the mitogen-activated protein kinase/ERK (MAPK) pathway, predominantly KIAA1549::BRAF fusions and BRAF V600E mutations. This makes pLGG an ideal candidate for MAPK pathway-targeted treatments.
11p vikoch 27-06-2024 1 1 Download
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Genome-wide association studies (GWAS) have identified several hundred susceptibility loci for type 2 diabetes (T2D). One critical, but unresolved, issue concerns the extent to which the mechanisms through which these diverse signals influencing T2D predisposition converge on a limited set of biological processes.
14p vibransone 28-03-2024 3 1 Download
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The prognosis for patients with head and neck cancer (HNC) is poor and has improved little in recent decades, partially due to lack of therapeutic options. To identify effective therapeutic targets, we sought to identify molecular pathways that drive metastasis and HNC progression, through large-scale systematic analyses of transcriptomic data.
26p vicwell 29-02-2024 4 2 Download
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Although isolated fractures of the ulnar shaft are considered common and relatively benign injuries, numerous complications can arise especially in the context of suboptimal care pathways. For pediatric patients, however, there is no single indication of the surgical approach.
8p vitiki 30-01-2024 2 2 Download
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Repair pathway genes play an important role in the development of lung cancer. The study aimed to assess the correlation between single nucleotide polymorphisms (SNPs) in DNA repair gene (GTF2H1 and RAD54L2) and the risk of lung cancer.
10p vileonardodavinci 23-12-2023 7 2 Download
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Juvenile Pilocytic Astrocytomas (JPAs) are one of the most common pediatric brain tumors, and they are driven by aberrant activation of the mitogen-activated protein kinase (MAPK) signaling pathway. RAF-fusions are the most common genetic alterations identified in JPAs, with the prototypical KIAA1549-BRAF fusion leading to loss of BRAF’s auto-inhibitory domain and subsequent constitutive kinase activation.
13p vileonardodavinci 23-12-2023 4 3 Download
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CAFs (cancer-associated fibroblasts) and tumor-associated p-EMT (partial epithelial mesenchymal transition) cells coexist and contribute to the formation of epithelial tumors like OSCC (oral squamous cell carcinoma).
8p vikissinger 21-12-2023 3 1 Download
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The protein kinase C (PKC) family of serine/threonine kinases contains more than ten isozymes that are involved in multiple signaling pathways, including cell cycle regulation and carcinogenesis.
7p vischultz 20-10-2023 3 1 Download
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Newcastle disease virus (NDV) is an oncolytic virus that can inhibit cancer cell proliferation and kill cancer cells. The NDV nonstructural V protein can regulate viral replication; however, whether the V protein contributes to NDV oncolysis is unclear.
10p vischultz 20-10-2023 4 1 Download
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Ebook "Service business model innovation in healthcare and hospital management: Models, strategies, tools" demonstrates how to successfully manage and lead healthcare institutions by employing the logic of business model innovation to gain competitive advantages. Since clerk-like routines in professional organizations tend to overlook patient and service-centered healthcare solutions, it challenges the view that competition and collaboration in the healthcare sector should not only incorporate single-end services, therapies or diagnosis related groups.
304p tukhongthienlac 24-06-2023 13 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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Results from genome-wide association studies (GWAS) identified many loci and biological pathways that influence adult body mass index (BMI). We aimed to identify if biological pathways related to adult BMI also affect infant growth and childhood adiposity measures.
13p vinarcissa 21-03-2023 3 1 Download
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Previous studies suggest that the metabolic pathway structure influences the selection and evolution rates of involved genes. However, most of these studies have exclusively considered a single gene copy encoding each enzyme in the metabolic pathway.
12p vinarcissa 21-03-2023 6 1 Download
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This study was conducted to: (1) identify new SNPs for residual feed intake (RFI) and performance traits within candidate genes identified in a genome wide association study (GWAS); (2) estimate the proportion of variation in RFI explained by the detected SNPs; (3) estimate the effects of detected SNPs on carcass traits to avoid undesirable correlated effects on these economically important traits when selecting for feed efficiency; and (4) map the genes to biological mechanisms and pathways.
14p vinarcissa 21-03-2023 4 1 Download
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In this regard, pathway-based analyses of GWAS became popular to discover novel multigenic functional associations. Still, to reveal the unaccounted 85 to 90% of T2D variation, which lies hidden in GWAS datasets, new post-GWAS strategies need to be developed. In this respect, here we reanalyze three metaanalysis data of GWAS in T2D, using the methodology that we have developed to identify disease-associated pathways by combining nominally significant evidence of genetic association with the known biochemical pathways.
33p lyhuyenthu 31-01-2023 9 2 Download
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Uveal melanoma (UM) is the most common primary intraocular malignancy with a strong tendency to metastasize. The prognosis is poor once metastasis occurs. The treatment remains challenging for metastatic UM, even though our understanding of UM has advanced, mostly because the complexity of the genetic and immunologic background has not been fully explored.
13p vikolindagrabar 27-07-2022 6 2 Download
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Osteosarcoma (OS) is one of the most common primary bone malignant tumors. Osteoclasts have been shown to have a valuable role in OS. In the present study, we analyzed the differentiation states of osteoclasts in OS and their prognostic significance based on integrated scRNA-seq and bulk RNA-seq data.
13p viangelamerkel 27-07-2022 3 1 Download
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Human pluripotent stem cells (hPSCs) provide powerful models for studying cellular differentiations and unlimited sources of cells for regenerative medicine. However, a comprehensive single-cell level differentiation roadmap for hPSCs has not been achieved.
19p vimichaelfaraday 25-03-2022 11 1 Download
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The CRISPR/Cas9 system, composed of a single-guide RNA for target recognition and a Cas9 protein for DNA cleavage, has the potential to revolutionize agriculture as well as medicine. Even though extensive work has been done to improve the gene editing activity of CRISPR/Cas9, little is known about the regulation of this bacterial system in eukaryotic host cells, especially at the post-transcriptional level.
15p vigalileogalilei 27-02-2022 14 1 Download
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In the Lophotrochozoa/Spiralia superphylum, few organisms have as high a capacity for rapid testing of gene function and single-cell transcriptomics as the freshwater planaria. The species Schmidtea mediterranea in particular has become a powerful model to use in studying adult stem cell biology and mechanisms of regeneration.
22p vigalileogalilei 27-02-2022 14 1 Download