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<h4>Background</h4>Progressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early-onset myoclonus, epilepsy, generalized tonic-clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be …
Read PDFDNA methylation plays a key role in gene regulation, genome stability, bacterial adaptation, and many other essential cellular processes. Thanks to nanopore sequencing technology, it is now possible to detect these modifications during sequencing without …
Read PDFThe placenta is a temporary organ present during pregnancy that is responsible for coordinating all aspects of pregnancy between the mother and fetus. It has a distinct epigenetic, transcriptomic, and mutational landscape with low levels …
Read PDFDNA methylation is a key regulator of eukaryotic genomes, most commonly through 5-methylcytosine (5mC). In contrast, the existence and function of N<sup>6</sup>-methyladenine (6mA) in eukaryotes have been controversial, with conflicting reports resulting from methodological artifacts. …
Read PDFSalicornia depressa (American pickleweed) is the most widespread member of its salt-loving genus in North America. Pickleweeds typically colonize high marsh areas that tides make highly saline. Most other salt marsh plants cannot withstand the …
Read PDF<h4>Background</h4>To determine the prognosis of osteosarcoma, multiple predictive models have been constructed in recent years. Nevertheless, the model for N6-methyladenosine (m<sup>6</sup>A)-related genes, a critical subset of molecular regulators for osteosarcoma, has not been identified.<h4>Methods</h4>Gene expression …
Read PDFUnderstanding how genetic variants influence disease risk through molecular mechanisms remains a central challenge in complex disease genetics. Nonsyndromic orofacial clefts (OFCs) exemplify this challenge, with most risk loci residing in non-coding regions. We hypothesized …
Read PDF<h4>Objectives</h4>Ischemic stroke represents a major global cause of disability and death. Timely recanalization of occluded vessels to salvage the ischemic penumbra is the cornerstone of acute ischemic stroke (AIS) treatment. Nevertheless, the molecular mechanisms driving …
Read PDFA systematic dissection of the functional impacts of non-coding variations across diverse tissues and cell types is essential for deciphering the molecular architecture underlying complex traits. Given the significance of chickens as both a key …
Read PDF<h4>Background</h4>Epigenetic medication, such as RNA 5-methylcytosine (m5C), is well-recognized as a key regulator in hepatic metabolism and immune responses. However, m5C regulatory mechanisms in NASH pathogenesis have not yet been clearly elucidated.<h4>Methods</h4>By utilizing three bulk …
Read PDFBACKGROUND: Gene regulatory evolution is a well-known source of phenotypic diversity and adaptive evolution. Although cis-regulatory elements (CREs) play a vital role in gene expression evolution, the molecular evolution of CREs remains mostly unknown due …
Read PDFThe polychaete Capitella teleta is a primary model for evolutionary developmental biology, comparative genomics, conservation, and ecotoxicology. Although it was the first polychaete genome sequenced, the original assembly is outdated by modern standards. Here, we …
Read PDFThe necrotrophic predatory yeast Saccharomycopsis schoenii preys on diverse fungal species including multidrug-resistant Candida auris, making it a promising candidate for fungal biocontrol. Despite growing interest in its predation mechanisms, a high-quality reference genome is …
Read PDFEpigenome-wide association studies (EWAS) has become an indispensable approach for elucidating the epigenetic basis of complex traits. EWAS Open Platform (https://ngdc.cncb.ac.cn/ewas/) includes three main components: EWAS Atlas (curated associations from publications), EWAS Data Hub (normalized …
Read PDFLarge-scale genomic rearrangements are prevalent in cancer genomes and can profoundly rewire three-dimensional (3D) genome architecture, leading to aberrant oncogene activation through enhancer hijacking. The rewired 3D organization generates unique chromatin contact signatures, which can …
Read PDFBACKGROUND: Statins are widely prescribed lipid-lowering agents, but their use is associated with an increased risk of new-onset type 2 diabetes mellitus (NO-T2DM) ranging from 9% to 13%. While genetic variants in 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR), …
Read PDFProphages can constitute up to 30% of the accessory genome in <i>Salmonella</i> enterica, acting as major drivers of virulence evolution and antimicrobial resistance; however, their diversity and functional contribution in Ecuadorian poultry-associated lineages remain unexplored. …
Read PDF<h4>Objective</h4>The involvement of methyltransferase-like 3 (METTL3, an m6A methyltransferase) and the PI3K/AKT pathway in tumor progression and immune regulation remains poorly understood. This study investigates whether METTL3 influences the immune microenvironment of renal cell carcinoma …
Read PDFEpigenetic features, such as histone modifications and higher-order genome organization, are fundamental determinants of cell-specific gene expression. However, while the HL-1 cell line is a widely utilized model for cardiac research, a comprehensive and integrated …
Read PDFBACKGROUND: ttScreening (TT) is an effective high-dimensional screening algorithm to identify important cytosine-phosphate-guanine dinucleotide (CpG) sites associated with DNA methylation. Via simulations, we aimed to examine the impact of influential outliers on TT’s performance. METHODS: …
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