Showing 2,881 - 2,900 results of 2,988 for search '"Mutation"', query time: 0.05s Refine Results
  1. 2881

    Multiomics profiling reveals the benefits of gamma-delta (γδ) T lymphocytes for improving the tumor microenvironment, immunotherapy efficacy and prognosis in cervical cancer by Xiaofeng Wang, Chen Li, Jie Chen, Zhiqiang Wu, Zhen Zhang, Junyi Li, Lu Yu, Yong Guan, Yuhan Zhang, Yuanjie Cao, Yancheng Liu, Hui Bai, Shaochuan Liu, Miaomiao Gao, Chenglu Lu, Zhen Tao, Zhiyong Yuan

    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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  2. 2882
  3. 2883

    Identification and characterization of the functional tetrameric UDP-glucose pyrophosphorylase from Klebsiella pneumoniae by Isabel Ramón Roth, Pavel Kats, Timm Fiebig, Françoise Routier, Roman Fedorov, Larissa Dirr, Jana I. Führing

    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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  4. 2884

    The Association between LRRK2 G2385R and Phenotype of Parkinson’s Disease in Asian Population: A Meta-Analysis of Comparative Studies by Wei Di, Zhiyong Zeng, Jingyan Li, Xiaoling Liu, Minzhi Bo, Hua Lv

    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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  5. 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... by L. A. Yakubov, O. S. Taranov, S. V. Sidorov, S. D. Nikonov, A. A. Ostanin, E. R. Chernykh, N. A. Kolchanov, S. S. Bogachev

    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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  6. 2886

    The Utah Population Database. A Model for Linking Medical and Genealogical Records for Population Health Research by Ken R. Smith, Alison Fraser, Diana Lane Reed, Jahn Barlow, Heidi A. Hanson, Jennifer West, Stacey Knight, Navina Forsythe, Geraldine P. Mineau

    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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  7. 2887

    Evaluation of plasma cell sorting methods in multiple myeloma patients: flow cytometry versus magnetic beads by Yu Jeong Choi, Jaeguk Choi, Yehyun Kang, Saeam Shin, Seung-Tae Lee, Jong Rak Choi

    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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  8. 2888

    Pembrolizumab plus Pemetrexed and Platinum in Metastatic Non-Squamous Non-Small Cell Lung Cancer: A Real-Life Study at a Portuguese Centre by Maria João Santos, Filipa Ferro, Andrea Machado, Ana Sofia Vilariça, Direndra Hasmucrai, Paula Alves

    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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  9. 2889

    RNA sequence analysis landscape: A comprehensive review of task types, databases, datasets, word embedding methods, and language models by Muhammad Nabeel Asim, Muhammad Ali Ibrahim, Tayyaba Asif, Andreas Dengel

    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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  10. 2890

    Molecular Epidemiology and Genetic Evolution of Porcine Reproductive and Respiratory Syndrome Virus in Northern China During 2021–2023 by Na Yuan, Zuofeng Yang, Fengxia Lv, Lina Dou, Xiangqing Li, Baokai Zhao, Shishan Dong

    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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  11. 2891

    Passive infusion of an S2-Stem broadly neutralizing antibody protects against SARS-CoV-2 infection and lower airway inflammation in rhesus macaques. by Christopher T Edwards, Kirti A Karunakaran, Elijah Garcia, Nathan Beutler, Matthew Gagne, Nadia Golden, Hadj Aoued, Kathryn L Pellegrini, Matthew R Burnett, Christopher Cole Honeycutt, Stacey A Lapp, Thang Ton, Mark C Lin, Amanda Metz, Andrei Bombin, Kelly Goff, Sarah E Scheuermann, Amelia Wilkes, Jennifer S Wood, Stephanie Ehnert, Stacey Weissman, Elizabeth H Curran, Melissa Roy, Evan Dessasau, Mirko Paiardini, Amit A Upadhyay, Ian N Moore, Nicholas J Maness, Daniel C Douek, Anne Piantadosi, Raiees Andrabi, Thomas R Rogers, Dennis R Burton, Steven E Bosinger

    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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  12. 2892

    Prevalence of Fabry Disease among Patients with Parkinson’s Disease by Alexandra Lackova, Christian Beetz, Sebastian Oppermann, Peter Bauer, Petra Pavelekova, Tatiana Lorincova, Miriam Ostrozovicova, Kristina Kulcsarova, Jana Cobejova, Martin Cobej, Petra Levicka, Simona Liesenerova, Daniela Sendekova, Viktoria Sukovska, Zuzana Gdovinova, Vladimir Han, Mie Rizig, Henry Houlden, Matej Skorvanek

    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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  13. 2893

    Disease-Associated Dopamine Receptor D2 Variants Exhibit Functional Consequences Depending on Different Heterotrimeric G-Protein Subunit Combinations by Nele Niebrügge, Olga Trovato, Roman Praschberger, Andreas Lieb

    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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  14. 2894

    Skin-associated Corynebacterium amycolatum shares cobamides by M. H. Swaney, N. Henriquez, T. Campbell, J. Handelsman, L. R. Kalan

    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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  15. 2895

    Case report: Chemotherapy plus sintilimab for the treatment of gastroesophageal junction hepatoid adenocarcinoma with liver metastasis: a case study with literature review by Genlin Lu, Jiarui Tu, Jinming Tu, Renya Jiang

    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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  16. 2896

    Lake Baikal amphipods and their genomes, great and small by P. B. Drozdova, E. V. Madyarova, A. N. Gurkov, A. E. Saranchina, E. V. Romanova, J. V. Petunina, T. E. Peretolchina, D. Y. Sherbakov, M. A. Timofeyev

    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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  17. 2897

    Phenotypic and genotypic drug susceptibility patterns of Mycobacterium tuberculosis isolates from pulmonary tuberculosis patients in Central and Southern Ethiopia. by Melaku Tilahun, Teklu Wegayehu, Biniam Wondale, Tewdros Tariku Gebresilase, Tesfaye Gebreyohannes, Abraham Tekola, Mekdes Alemu, Sebsib Neway, Bethlehem Adnew, Maeruf Fetu Nassir, Yonas Kassahun, Abraham Aseffa, Kidist Bobosha

    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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  18. 2898

    Primary HIV Drug Resistance among Recently Infected Cases of HIV in North-West India by C. K. Chauhan, P. V. M. Lakshmi, V. Sagar, A. Sharma, S. K. Arora, R. Kumar

    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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  19. 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 by Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana

    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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  20. 2900

    GENETIC SOURCES FOR BREEDING BUSHY AND SHORT-VINE WATERMELON CULTIVARS by G. A. Tekhanovich, A. G. Elatskova, Yu. A. Elatskova

    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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