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<h4>Background</h4>Whole-genome sequencing (WGS) data has facilitated genome-wide identification of rare noncoding variants. However, elucidating these variants' associations with complex diseases remains challenging. A previous study utilized a deep-learning-based framework and reported a significant brain-related association …
Read PDFImmune checkpoint inhibitors (ICIs) can cause immune-related adverse events (irAEs), with acute interstitial nephritis (ICI-AIN) being the most common irAE. While the exact mechanism remains unclear, upregulation of IFN-γ and TNF-α pathways has been implicated. …
Read PDFBACKGROUND: Dihydroorotate dehydrogenase (DHODH) is a mitochondrial enzyme that connects de novo pyrimidine biosynthesis with the electron transport chain (ETC) function. However, its broader role in prostate cancer (PCa) signaling and response to therapy remains …
Read PDFMajor Depressive Disorder (MDD) poses a significant global health burden, characterized by a complex and heterogeneous pathophysiology insufficiently targeted by conventional single-treatment approaches. This review presents an integrative framework incorporating network pharmacology, artificial intelligence (AI), …
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Read PDFAberrantly enhanced DNA damage repair contributes to therapy resistance and poor prognosis in nasopharyngeal carcinoma (NPC), but its regulatory mechanisms remain unclear. Stress granules (SGs) mediate tumor stress adaptation, yet their role in NPC DNA …
Read PDFMAGEB16 (Melanoma-associated antigen B16) is an X-linked cancer-testis antigen belonging to the MAGE-B family, whose expression is tightly regulated by a promoter DNA-methylation switch that restricts transcription primarily to the male germ line under normal …
Read PDF<h4>Aims</h4>Epigenomics has significantly advanced through the incorporation of Systems Biology approaches. This study aims to investigate the human lysine methylome as a system, using a data-science approach to reveal its emergent properties, particularly focusing on …
Read PDFOptic neuritis (ON) and neuromyelitis optica spectrum disorders (NMOSD) are inflammatory neuro-ophthalmological conditions characterized by significant visual impairment and diverse clinical manifestations. Advances in diagnostic biomarkers have improved disease identification, including aquaporin-4 immunoglobulin G (AQP4-IgG) …
Read PDFBioinformatics plays an ever-increasing role in revealing the complexity of genomic information and how it is related to the susceptibility and pathophysiology of human diseases [...].
Read PDFThe objective of this review is to synthesize current knowledge and evidence on male reproductive health by addressing preventive medicine strategies and biomarkers, as well as to provide clinicians, researchers, and policy makers with a …
Read PDFThe advancement of multi-omics tools has revolutionized the study of complex biological systems, providing comprehensive insights into the molecular mechanisms underlying critical traits across various organisms. By integrating data from genomics, transcriptomics, metabolomics, and other …
Read PDFIn recent years, single-cell RNA sequencing (scRNA-seq) has marked significant strides in livestock and poultry research, especially when integrated with multi-omics approaches. These advancements provide a nuanced view into complex regulatory networks and cellular dynamics. …
Read PDFChildhood obesity represents a major public health challenge, increasing long-term risks such as type 2 diabetes and cardiovascular disease. Lifestyle interventions in prepubertal children are often more effective, but individual responses can vary, highlighting the …
Read PDFEWOG-MESRAT (European Working Group-Methylation Signatures and Response to Azacitidine Therapy; DRKS00007185) is an investigator-initiated trial that studied EPIC array-based DNA methylation patterns and next generation sequencing (NGS)-based variant allele frequencies (VAFs) of driver mutations in …
Read PDFSince the 2016 update of the WHO Classification of Tumors of the Central Nervous System, omics data have been officially integrated into the diagnostic process for glioblastoma, the most prevalent and aggressive primary malignant brain …
Read PDFDNA methylation alterations, including hypermethylation and silencing of tumor suppressor genes, contribute to cancer formation and progression. The FDA-approved nucleoside analogs azacytidine and decitabine are effective demethylating agents for hematologic malignancies but their general use …
Read PDFPreeclampsia is a complex, hypertensive pregnancy disorder which is linked to an increased cardiovascular disease risk in both mothers and their offspring. Maternal haemodynamic adaptation during gestation is essential for adequate foetal nutrient supply and …
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