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2881
Multiomics profiling reveals the benefits of gamma-delta (γδ) T lymphocytes for improving the tumor microenvironment, immunotherapy efficacy and prognosis in cervical cancer
Published 2024-01-01“…As the cervix is a mucosa-rich tissue, the role of γδ T cells in cervical cancer warrants further investigation.Methods We employed a multiomics strategy that integrated abundant data from single-cell and bulk transcriptome sequencing, whole exome sequencing, genotyping array, immunohistochemistry, and MRI.Results Heterogeneity was observed in the level of γδ T-cell infiltration in cervical cancer tissues, mainly associated with the tumor somatic mutational landscape. Definitely, γδ T cells play a beneficial role in the prognosis of patients with cervical cancer. …”
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2882
The Rise of SARS-CoV-2 Variants and the Role of Convalescent Plasma Therapy for Management of Infections
Published 2023“…The SARS- Cov-2 virus has undergone multiple mutations since its emergence in 2019, resulting in changes in virulence that have impacted on disease severity globally. …”
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2883
Identification and characterization of the functional tetrameric UDP-glucose pyrophosphorylase from Klebsiella pneumoniae
Published 2025-02-01“…Here, we show that the galF gene of the opportunistic pathogen Klebsiella pneumoniae encodes a dimeric protein that has lost UGP activity, likely due to a combination of active site mutations and an inability to tetramerize, whereas the functional K. pneumoniae UGP, encoded by galU, is an active tetramer. …”
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2884
The Association between LRRK2 G2385R and Phenotype of Parkinson’s Disease in Asian Population: A Meta-Analysis of Comparative Studies
Published 2018-01-01“…Our results suggested that most of the clinical characteristics of PD patients with LRRK2 G2385R mutations are similar to those of LRRK2 G2385R noncarriers among Asian PD patients, except for the more common family history, relatively longer disease duration, and higher MMSE scores in the former group.…”
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2885
The concept of natural genome reconstruction. Part 1. Basic provisions of the “natural genome reconstruction” concept. Changing the genome of hematopoietic stem cells using several...
Published 2024-11-01“…It is assumed that as a result of stochastic acts of homologous exchange, chromosome loci are corrected in hematopoietic stem cells that have acquired mutations during the existence of the organism, which are the cause of clonal hematopoiesis associated with old age. …”
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2886
The Utah Population Database. A Model for Linking Medical and Genealogical Records for Population Health Research
Published 2022-05-01“…Genetic researchers have used UPDB to identify and study individuals and families that have higher than normal incidence of diseases or other traits, to analyze patterns of genetic inheritance, and to identify specific genetic mutations. Demographers and other social scientists are increasingly using the UPDB to study issues such as trends in fertility transitions and shifts in mortality patterns for both infants and adults. …”
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2887
Evaluation of plasma cell sorting methods in multiple myeloma patients: flow cytometry versus magnetic beads
Published 2025-01-01“…However, detecting sensitive genetic mutations poses challenges due to the heterogeneous nature of the cell population in bone marrow aspiration. …”
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2888
Pembrolizumab plus Pemetrexed and Platinum in Metastatic Non-Squamous Non-Small Cell Lung Cancer: A Real-Life Study at a Portuguese Centre
Published 2025-02-01“… First-line therapy for metastatic non-small-cell lung cancer without targetable mutations is platinum-based chemotherapy plus pembrolizumab if programmed death ligand 1 is < 50%. …”
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2889
RNA sequence analysis landscape: A comprehensive review of task types, databases, datasets, word embedding methods, and language models
Published 2025-01-01“…Aberrations in RNA sequence such as dysregulation and mutations can drive a diverse spectrum of diseases including cancers, genetic disorders, and neurodegenerative conditions. …”
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2890
Molecular Epidemiology and Genetic Evolution of Porcine Reproductive and Respiratory Syndrome Virus in Northern China During 2021–2023
Published 2025-01-01“…L1.8 and L1.5 showed considerable polymorphism at decoy and neutralizing epitopes. Mutations of specific amino acids were present in L1.8 and L1.5 at T- and B-cell epitopes. …”
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2891
Passive infusion of an S2-Stem broadly neutralizing antibody protects against SARS-CoV-2 infection and lower airway inflammation in rhesus macaques.
Published 2025-01-01“…Viral genome sequencing demonstrated a lack of escape mutations in the CC40.8 epitope. Collectively, these data demonstrate the protective efficiency of broadly neutralizing S2-targeting antibodies against SARS-CoV-2 infection within the lower airway while providing critical preclinical work necessary for the development of pan-β-CoV vaccines.…”
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2892
Prevalence of Fabry Disease among Patients with Parkinson’s Disease
Published 2022-01-01“…An increased prevalence of Parkinson’s disease (PD) disease has been previously reported in subjects with Fabry disease (FD) carrying alpha-galactosidase (GLA) mutations and their first-line relatives. Moreover, decreased alpha-galactosidase A (AGLA) enzymatic activity has been reported among cases with PD compared to controls. …”
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2893
Disease-Associated Dopamine Receptor D2 Variants Exhibit Functional Consequences Depending on Different Heterotrimeric G-Protein Subunit Combinations
Published 2024-12-01“…DRs are essential for mediating various downstream signaling cascades and play a critical role in regulating the dopaminergic nigrostriatal pathway, which is involved in motor control. Recently, mutations in DRD2 (WT), p.Ile212Phe (I212F), and p.Met345Arg (M345R) have been associated with hyperkinetic movement disorders and shown to alter heterotrimeric G-protein complex signaling and β-arrestin recruitment. …”
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2894
Skin-associated Corynebacterium amycolatum shares cobamides
Published 2025-01-01“…We also generated a C. amycolatum non-cobamide-producing strain (cob–) using UV mutagenesis that contains mutated cobamide biosynthesis genes cobK (precorrin-6X reductase) and cobO (corrinoid adenosyltransferase) and confirm that disruption of cobamide biosynthesis abolishes the support of E. coli growth through cobamide sharing. …”
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2895
Case report: Chemotherapy plus sintilimab for the treatment of gastroesophageal junction hepatoid adenocarcinoma with liver metastasis: a case study with literature review
Published 2025-01-01“…The NGS report of GEJ mass indicated that the JAK2 and TP53 genes harbored missense mutations, while the MLH1, MSH2, MSH6, PMS2, ERBB2, EGFR, PIK3CA, APC, CTNNB1, CDH1, and DPYD genes were normal. …”
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2896
Lake Baikal amphipods and their genomes, great and small
Published 2024-05-01“…Studies of mitochondrial genomes revealed some unusual features, such as variation in length and gene order, as well as duplications of tRNA genes, some of which also underwent remolding (change in anticodon specificity due to point mutations). The next important steps should be (i) the assembly of whole genomes for different species of Baikal amphipods, which is at the moment hampered by complicated genome structures with high repeat content, and (ii) updating species taxonomy taking into account all the data.…”
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2897
Phenotypic and genotypic drug susceptibility patterns of Mycobacterium tuberculosis isolates from pulmonary tuberculosis patients in Central and Southern Ethiopia.
Published 2023-01-01“…According to the findings, 14.4% (36/250) of the isolates tested positive for resistance to at least one anti-TB drug. Gene mutations were observed only in the rpoB and katG gene loci, indicating RIF and high-level INH resistance. …”
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2898
Primary HIV Drug Resistance among Recently Infected Cases of HIV in North-West India
Published 2019-01-01“…The proportion of primary drug resistance was 22.2% (2/9) among female sex workers, 14.3% (1/7) among men having sex with men, and 14.3% (3/21) among injecting drug users. Observed mutations were K219R, L74V, K219N, and Y181C. Injecting drug user (IDU) has showed resistance to either nucleoside/nucleotide reverse transcriptase inhibitors (NRTI) or nonnucleotide reverse transcriptase inhibitors (NNRTI). …”
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2899
Assessment of Antibiotic Resistance and Efflux Pump Gene Expression in Neisseria Gonorrhoeae Isolates from South Africa by Quantitative Real-Time PCR and Regression Analysis
Published 2022-01-01“…Whole-genome sequencing was used to determine the presence or absence of mutations. Results. N. gonorrhoeae isolates, from female and male patients presenting for care at clinics in KwaZulu-Natal, South Africa, were analysed. …”
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2900
GENETIC SOURCES FOR BREEDING BUSHY AND SHORT-VINE WATERMELON CULTIVARS
Published 2019-10-01“…When studying the collection of watermelon, it is important to disclose its genetic potential by identifying spontaneous mutations, using its accessions in crosses, and analyzing inheritance of its main traits in hybrids. …”
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