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1861
Serine/threonine protein kinase mediates rifampicin resistance in Brucella melitensis through interacting with ribosomal protein RpsD and affecting antioxidant capacity
Published 2025-01-01“…Recently, an increasing number of rifampicin-resistant Brucella strains have been isolated worldwide without detectable mutations in known antibiotic resistance genes. Here, this study identified the deletion of serine/threonine protein kinase (STPK) gene in B. melitensis as an efficient trigger for rifampicin resistance using bioinformatics predictions, a transposon mutant library, and gene mutation strains. …”
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1862
Identification and validation of a prognostic signature of drug resistance and mitochondrial energy metabolism-related differentially expressed genes for breast cancer
Published 2025-01-01“…Furthermore, we examined immune infiltration and tumor mutation burden of the genes within our model and scrutinized divergences in the immune microenvironment between high- and low-risk groups. …”
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1863
A Case Report and Genetic Characterization of a Massive Acinic Cell Carcinoma of the Parotid with Delayed Distant Metastases
Published 2013-01-01“…A damaging nonsynonymous mutation was noted in EP300, a histone acetylase which plays a role in cellular proliferation. …”
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1864
Development and characterization of orthotopic patient-derived xenograft models of peritoneal metastatic mucinous appendiceal adenocarcinoma
Published 2025-03-01“…Results: Higher tumor grade, peritoneal implantation, and RAS/RAF mutation were associated with successful tumor engraftment. …”
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1865
Antimicrobial susceptibility and epidemiological types of Legionella pneumophila human isolates from Italy (1987–2020)
Published 2025-03-01“…In 4 of the 46 isolates, sequencing analysis showed the occurrence of amino-acid substitutions already described in other strains. No further mutation was found. Conclusions: The presence of L. pneumophila strains with reduced susceptibility or resistance to azithromycin should be monitored to predict future trends and suggest to physicians a combined therapy with fluoroquinolones when a poor response to azithromycin is observed. © 2025 The Author(s). …”
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1866
Atezolizumab plus bevacizumab in patients with unresectable or metastatic mucosal melanoma: 3‐year survival update and multi‐omics analysis
Published 2025-01-01“…Furthermore, mucosal melanoma of upper site and NRAS mutation appear to be good predictors of response to immune checkpoint inhibitor and anti‐angiogenic combination treatment. …”
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1867
Exosomal mir-126-3p derived from endothelial cells induces ion channel dysfunction by targeting RGS3 signaling in cardiomyocytes: a novel mechanism in Takotsubo cardiomyopathy
Published 2025-02-01“…Dual luciferase reporter assay coupled with gene mutation techniques identified that miR-126-3p was found to target the regulator of G-protein signaling 3 (RGS3) gene. …”
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1868
An Optimized NGS Workflow Defines Genetically Based Prognostic Categories for Patients with Uveal Melanoma
Published 2025-01-01“…Results: Employing commercial gene panels, reference mutated DNAs and Sanger sequencing, we performed a comparative analysis and found that our methodological approach successfully predicted survival with great specificity and sensitivity compared to the TCGA-UM cohort that was used as a validation group. …”
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1869
Lower Circulating miR-122 Level in Patients with HNF1A Variant-Induced Diabetes Compared with Type 2 Diabetes
Published 2018-01-01“…This study aimed to investigate differences in serum miR-122 levels in Chinese patients with different forms of diabetes, including T2DM, type 1 diabetes (T1DM), HNF1A variant-induced diabetes (HNF1A-DM), glucokinase variant-induced diabetes (GCK-DM), and mitochondrial A3243G mutation-induced diabetes (MDM). In total, 12 HNF1A-DM patients, 24 gender-, age-, and body mass index-matched (1 : 2) T2DM patients and 24 healthy subjects were included in this study. …”
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1870
Germline Human Leukocyte Antigen Status is Associated With Immunotherapy-Induced Pneumonitis and Treatment Response in Patients With Non–Small Cell Lung Cancer With High Programmed...
Published 2025-01-01“…Investigation of the tumor samples from 15 patients revealed some degree of HLA loss in the HLA class I loci in 40% (6/15) of patients, and no significant difference in tumor mutation burden was found among patients with different treatment responses. …”
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1871
A Series of Novel Alleles of <i>Ehd2</i> Modulating Heading and Salt Tolerance in Rice
Published 2025-01-01“…Functional validation through CRISPR/Cas9 knockout and complementation assays confirmed its role in regulating heading. The <i>elh6</i> mutation was found to cause intron retention due to alternative splicing. …”
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1872
Genomic insights into the specialisation and selection of the Jinding duck
Published 2025-01-01“…The study highlights a c.28G>A non−synonymous mutation in the first exon of the LAMC1 gene, which is potentially influencing feather morphology in JDD. …”
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1873
Immune and genomic biomarkers of immunotherapy response in cancer of unknown primary
Published 2023-01-01“…Of the DNA sequenced cases, 16% (32/203) had high TMB (>10 mutations/Mb), including two with mismatch repair deficiency. …”
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1874
Construction of a prognostic model for gastric cancer based on immune infiltration and microenvironment, and exploration of MEF2C gene function
Published 2025-01-01“…Moreover, its higher expression is also negatively correlated with tumor mutation burden (TMB) and microsatellite instability (MSI), but positively correlated with several immunosuppressive molecules, indicating MEF2C may exert its influence on tumor development by upregulating immunosuppressive molecules. …”
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1875
Clonal hematopoiesis in patients with autoimmune thrombocytopenia: an international multicenter study
Published 2025-02-01“…Most commonly mutated genes were TET2, DNMT3A, SRSF2, and ASXL1 (median variant allele frequency, 29%); 19 of 31 patients (68%) had high-risk variants, and 8 had multiple mutations. …”
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1876
MAM‐STAT3‐Driven Mitochondrial Ca+2 Upregulation Contributes to Immunosenescence in Type A Mandibuloacral Dysplasia Patients
Published 2025-02-01“…Abstract Individuals with homozygous laminA/C p.R527C mutations manifest a severe form of Mandibuloacral dysplasia‐(MAD) and exhibit overlapping progeroid symptoms, for which the underlying molecular pathology remains unknown. …”
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1877
Application of a new highly multiplexed amplicon sequencing tool to evaluate Plasmodium falciparum antimalarial resistance and relatedness in individual and pooled samples from Dsc...
Published 2025-02-01“…Antimalarial resistance genotyping showed high levels of sulfadoxine-pyrimethamine resistance mutations, including 31% prevalence of the DHPS A613S mutation. …”
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1878
Prognostic factors and outcomes of adjuvant and first-line metastatic treatments in melanoma a Turkish oncology group study
Published 2025-01-01“…Dabrafenib plus trametinib showed the longest median OS (53.5 months) in metastatic patients and was significantly better than chemotherapy (33.6 months) (p < 0.001). BRAF V600E mutation, RFS > 6 months, ORR are all independent factors for OS prognosis. …”
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1879
Tenofovir and Doravirine Are Potential Reverse-Transcriptase Analogs in Combination with the New Reverse-Transcriptase Translocation Inhibitor (Islatravir) Among Treatment-Experien...
Published 2025-01-01“…Islatravir (ISL) is a novel antiretroviral that inhibits HIV-1 reverse transcriptase translocation. The M184V mutation, known to reduce ISL’s viral susceptibility in vitro, could arise from prolonged exposure to nucleoside reverse transcriptase inhibitors (NRTI) (3TC). …”
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1880
Le réseau hydraulique à Pompéi (Italie) de l’époque des Samnites à Auguste (fin ive-fin ier s. av. J.-C.)
Published 2023-12-01“…For their part, wells connected to the nerve centres of the urban road network and to the supply system of thermal buildings would seem to have been in decline, becoming supplementary to the supply provided by the aqueduct pressure system.The collection wells categorically and definitively fell into disuse through the complete obliteration of the reservoir or, if originally in the public sphere, through their assimilation into private property, or even through functional conversion to drains, favoured as it was by the dispersive capacities of the geological subsoil and the considerable depths of the pipe.While this is the information that can be deduced from the analyses conducted on the city of Pompeii’s earliest historical phases, the data that have emerged from the middle and late Samnite periods reveal a change in previous conditions and the adoption of new mechanisms.Between the 3rd and 2nd centuries BC, the introduction of a new urban layout and Pompeii’s entry into Rome’s sphere of influence triggered an urbanistic mutation of the site inspired by the model of the Roman city.Roman-style hydraulic engineering in Pompeii also encouraged the choice of vaulted chamber cisterns, which were often introduced into the city as a complement to the previous storage structures.The chambered cistern type not only reduced the cost of excavating the lava bed, but also made for greater safety in open-air construction and enhanced the static capacity of the walls and cement cover to improve the structural qualities of the cisterns and considerably increase their storage capacity.In particular, the adoption of the sub-type of cistern with multiple, parallel chambers also made it possible, through the principal of the discharge of forces through the vaulted system, to terrace and amplify the spaces available for building.This is what research has shown in the urban construction of Pompeii, which in the course of the 2nd century BC was also focused near the height of the promontory, as attested above all along the southern lava ridge of Regio VIII. …”
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