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3661
Chikungunya virus infection in the skin: histopathology and cutaneous immunological response
Published 2025-01-01“…Since the skin is the first line of defense against CHIKV infection, in this study, we aimed to investigate the immunohistopathological aspects of the skin of infected individuals during the acute phase of the disease by performing histopathological and ultrastructural analysis, detection and quantification of the viral genome, detection of viral antigen and immune cells, and cytokines/chemokines’ characterization. …”
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3662
MLL4 regulates postnatal palate growth and midpalatal suture development
Published 2025-01-01“…Whole-mount and histological staining at perinatal stages identified that the midline defects in the Mll4-cKO mice emerged as early as 1 day prior to birth, presenting as a widened midpalatal suture, accompanied by increased cell apoptosis in the suture mesenchyme. Genome-wide mRNA expression analysis of the midpalatal suture tissue revealed that MLL4 is essential for the timely expression of major cartilage development genes, such as Col2a1 and Acan, at birth. …”
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3663
An oligodendrocyte silencer element underlies the pathogenic impact of lamin B1 structural variants
Published 2025-02-01“…Most cases of ADLD are caused by tandem genomic duplications involving the lamin B1 gene (LMNB1) while a small subset are caused by genomic deletions upstream of the gene. …”
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3664
An exceptionally rare case of a diffuse midline glioma with concomitant H3.1 K27M and G34R mutations in the HIST1H3C (H3C3) gene
Published 2025-01-01“…Further molecular studies (whole exome, whole genome sequencing) revealed concurrent H3.1 K27M and G34R mutations (clonal, in the same reads) of H3C3, FGF11 and PIK3CA somatic variants, and a pathogenic germline NBN variant. …”
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3665
Molecular epidemiology of carbapenem-resistant Acinetobacter baumannii group in Taiwan
Published 2025-01-01“…Additionally, KL types showed correlations with ST types, carbapenem resistance, and certain clinical records. Whole-genome sequencing of a blaNDM-1-carrying A. seifertii strain revealed a plasmid transferable via in vitro conjugation, suggesting A. seifertii may be a reservoir for NDM-1 plasmids.IMPORTANCECarbapenem-resistant Acinetobacter spp. have been identified by the World Health Organization as a top priority for new antibiotic development. …”
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3666
Molecular Epidemiology, Drug-Resistant Variants, and Therapeutic Implications of Hepatitis B Virus and Hepatitis D Virus Prevalence in Nigeria: A National Study
Published 2025-01-01“…Information on circulating HBV (sub-)genotype, variants, and hepatitis D virus (HDV) coinfection, which vary by geographical area, is crucial for the efficient control and management of HBV. We investigated the genomic characteristics of HBV (with a prevalence of 8.1%) and the prevalence of HDV in Nigeria. …”
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3667
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3668
Implementation of a genotyped African population cohort, with virtual follow-up: A feasibility study in the Western Cape Province, South Africa [version 2; peer review: 2 approved,...
Published 2025-01-01“…We demonstrated feasibility of nested case control genome wide association studies using these data for phenotypes type 2 diabetes mellitus (T2DM) and severe COVID-19. …”
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3669
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3670
Spatially resolved transcriptomics reveals gene expression characteristics in uveal melanoma
Published 2025-01-01“…Gene Ontology (GO) and Kyoto Encyclopedia of Genes, Genomes (KEGG) functional enrichment analysis, and protein–protein interaction (PPI) network were performed to define the biological function of each cluster. …”
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3671
NEK4: prediction of available drug targets and common genetic linkages in bipolar disorder and major depressive disorder
Published 2025-01-01“…This will provide clues to potential drug targets.MethodsThis study employed genome-wide association studies (GWAS) and summary-data-based Mendelian randomization (SMR) methods to investigate the genetic underpinnings of patients with bipolar disorder (BD) and major depressive disorder (MDD) and to predict potential drug target genes. …”
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3672
Germline BRCA testing in Denmark following invasive breast cancer: Progress since 2000
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3673
Ethanolamine-induced assembly of microcompartments is required for Fusobacterium nucleatum virulence
Published 2025-02-01“…Here we investigated the molecular assembly, regulation, and function of BMCs in Fusobacterium nucleatum—a Gram-negative oral pathobiont that is associated with adverse pregnancy outcomes. The F. nucleatum genome harbors a conserved ethanolamine utilization (eut) locus with 21 genes that encode several putative BMC shell proteins and a two-component signal transduction system (TCS), in addition to the enzymes for ethanolamine transport and catabolism. …”
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3674
Domestication of different varieties in the cheese-making fungus Geotrichum candidum
Published 2023-05-01“…Geotrichum candidum is a fungus used for cheese making and is also found in other environments such as soil and plants. By analyzing whole-genome data from 98 strains, we found that all strains isolated from cheese formed a monophyletic clade. …”
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3675
Microcephaly protein ANKLE2 promotes Zika virus replication
Published 2025-02-01“…Thus, ANKLE2 likely promotes orthoflavivirus replication by regulating membrane rearrangements that serve to accelerate viral genome replication and protect viral dsRNA from immune detection. …”
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3676
Massively parallel variant-to-function mapping determines functional regulatory variants of non-small cell lung cancer
Published 2025-02-01“…Abstract Genome-wide association studies have identified thousands of genetic variants associated with non-small cell lung cancer (NSCLC), however, it is still challenging to determine the causal variants and to improve disease risk prediction. …”
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3677
CK2α-mediated phosphorylation of DUB3 promotes YAP1 stability and oncogenic functions
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3678
The generation and evaluation of TKO/hCD55/hTM/hEPCR gene-modified pigs for clinical organ xenotransplantation
Published 2025-01-01“…This study investigates the generation of TKO/hCD55/hTM/hEPCR (6GE) pigs and evaluates their compatibility with human immune and coagulation systems.MethodsThe 6GE pigs were generated through iterative genome editing and F1 generation breeding. Genotyping, flow cytometry, and immunohistochemistry confirmed the knockout of GGTA1, CMAH, and B4GALNT2. …”
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3679
Impact of antiviral prophylaxis on EBV viremia and posttransplant lymphoproliferative disorders in solid organ transplant recipients: a systematic review and meta-analysis
Published 2025-01-01“…In over 90% of cases with B‐cell PTLD following solid organ transplantation, the Epstein‐Barr virus (EBV) genome is promptly identified, usually within the initial year. …”
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3680
Obstructive sleep apnea and structural and functional brain alterations: a brain-wide investigation from clinical association to genetic causality
Published 2025-01-01“…Additionally, large-scale Mendelian randomization analyses were performed using genome-wide association study (GWAS) data on OSA and 3935 brain imaging-derived phenotypes (IDPs), assessed in up to 33,224 individuals between December 2023 and March 2024, to explore potential genetic causality between OSA and alterations in whole brain structure and function. …”
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