Showing 2,421 - 2,440 results of 2,988 for search '"mutation"', query time: 0.06s Refine Results
  1. 2421

    The Short Dramatic Form in the Works of Kostas Ostrauskas and Juozas Erlickas by Neringa Klišienė

    Published 2023-12-01
    “…The question is whether (and how) such ‘mutations’ of dramatic writing maintain a specific theatrical mode of operation (the plot, the character etc.) when they enter the dynamic field of the short form. …”
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  2. 2422

    The Genetics of Alzheimer’s Disease by Robert C. Barber

    Published 2012-01-01
    “…It is inherited in Mendelian dominant fashion and is caused by mutations in three genes (APP, PSEN1, and PSEN2). …”
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  3. 2423

    KSHV hijacks the antiviral kinase IKKε to initiate lytic replication. by Xiaoqian Wang, Zhenshan Liu, Xue Xu, Xin Wang, Zizhen Ming, Chengrong Liu, Hang Gao, Tingting Li, Qiming Liang

    Published 2025-01-01
    “…Further experiments utilizing mutations on the SUMOylation sites of IKKε or inhibiting IKKε using BAY-985 showed that these actions no longer impact PML NBs and completely suppress the lytic replication of KSHV. …”
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  4. 2424

    Cell-free assays reveal that the HIV-1 capsid protects reverse transcripts from cGAS immune sensing. by Tiana M Scott, Lydia M Arnold, Jordan A Powers, Delaney A McCann, Ana B Rowe, Devin E Christensen, Miguel J Pereira, Wen Zhou, Rachel M Torrez, Janet H Iwasa, Philip J Kranzusch, Wesley I Sundquist, Jarrod S Johnson

    Published 2025-01-01
    “…Viral DNA could be "deprotected" by thermal stress, capsid mutations, or reduced concentrations of inositol hexakisphosphate (IP6) that destabilize the capsid. …”
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  5. 2425

    Clinical Study of De novo Histoid Leprosy by H Bangaru, Seema Afreen Kazi

    Published 2025-01-01
    “…A probable reason may be due to primary dapsone resistance by the folP1 gene, and another possibility could be due to other mutations in the Mycobacterium leprae. Early recognition of de novo cases with prompt institution of sufficient duration of WHO multibacillary multidrug therapy therapy under prolonged follow-up is important to ensure a favorable outcome.…”
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  6. 2426

    Révéler ce qui fait patrimoine pour penser le renouvellement urbain des cités d’habitations à bon marché de Grenoble by Ryma Hadbi

    Published 2020-11-01
    “…What makes heritage can be approached as a living, constantly evolving process, integrating mutations, changes and ruptures and articulating three patrimonial values: historical value, use value and renewal value. …”
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  7. 2427

    Gastrointestinal stromal tumors by A. P. Seryakov

    Published 2010-08-01
    “…Diagnostics, treatment and outcome at patients with GIST underwent significant changes for last 10 years due to discovering of molecular mechanisms, resulting in development of tumor: activated mutations of KITand PDGFR α-tyrosine kinase. These findings promoted development of tyrosine kinase inhibitor – imatinib which demonstrated essential advantage in terms of survival rate of patients. …”
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  8. 2428

    A Maternal Loss‐of‐Function Variant in KHDC3L Gene Causes a Range of Adverse Pregnancy Outcomes: A Case Report by Zahra Anvar, Farnoosh Jafarpour, Bahia Namavar Jahromi, Andrea Riccio, Mohammad Hossein Nasr‐Esfahani, Maria Vittoria Cubellis

    Published 2025-01-01
    “…ABSTRACT Background The KHDC3L gene encodes a component of the subcortical maternal complex (SCMC). Biallelic mutations in this gene cause 5%–10% of biparental hydatidiform moles (BiHM), and a few maternal deletions in KHDC3L have been identified in women with recurrent pregnancy loss (RPL). …”
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  9. 2429

    The promising role of nanopore sequencing in cancer diagnostics and treatment by Xinming Su, Qingyuan Lin, Bin Liu, Chuntao Zhou, Liuyi Lu, Zihao Lin, Jiahua Si, Yuemin Ding, Shiwei Duan

    Published 2025-04-01
    “…In the context of DNA analysis, nanopore sequencing excels in identifying structural variations (SVs), copy number variations (CNVs), gene fusions within SVs, and mutations in specific genes, including those involving DNA modifications and DNA adducts. …”
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  10. 2430

    Identification of Differentially Expressed Genes in Pituitary Adenomas by Integrating Analysis of Microarray Data by Peng Zhao, Wei Hu, Hongyun Wang, Shengyuan Yu, Chuzhong Li, Jiwei Bai, Songbai Gui, Yazhuo Zhang

    Published 2015-01-01
    “…Altered gene expression as well as somatic mutations is detected frequently in pituitary adenomas. …”
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  11. 2431

    A review of vitamin D deficiency and vitamin D receptor polymorphisms in endocrine-related disorders by Nur Faten Hafizah Rosli, Noor Shafina Mohd Nor, Rose Adzrianee Adnan, Siti Hamimah Sheikh Abdul Kadir

    Published 2025-01-01
    “…In the past few decades, the human skin has been identified as an important peripheral endocrine organ that is the main site for the synthesis of vitamin D through exposure to sunlight. Mutations in downstream vitamin D-related gene pathways are associated with disease development. …”
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  12. 2432

    Severe Cases of Tick-Borne Encephalitis in Northeastern Poland by Justyna Adamczuk, Magdalena Chlabicz, Natalia Koda, Maciej Kondrusik, Joanna Zajkowska, Piotr Czupryna, Anna Moniuszko-Malinowska

    Published 2024-12-01
    “…The few risk factors shown in our patients and the serious sequelae of the disease may indicate the need to test patients for possible gene mutations.…”
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  13. 2433

    Targeting the Heart of Mycobacterium: Advances in Anti-Tubercular Agents Disrupting Cell Wall Biosynthesis by Ahmad Diab, Henry Dickerson, Othman Al Musaimi

    Published 2025-01-01
    “…<i>Mycobacterium tuberculosis</i> infections continue to pose a significant global health challenge, particularly due to the rise of multidrug-resistant strains, random mycobacterial mutations, and the complications associated with short-term antibiotic regimens. …”
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  14. 2434
  15. 2435

    Molecular Mechanisms Underlying Resistance to <i>Bacillus thuringiensis</i> Cry Toxins in Lepidopteran Pests: An Updated Research Perspective by Deqin Hu, Dongmei Wang, Hongsheng Pan, Xiaoning Liu

    Published 2025-01-01
    “…Extensive research has demonstrated that mutations and alterations in expression patterns of midgut receptor genes are closely associated with <i>Bt</i> resistance. …”
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  16. 2436

    The WAVE complex in developmental and adulthood brain disorders by Hyung-Goo Kim, Clara Berdasco, Angus C. Nairn, Yong Kim

    Published 2025-01-01
    “…Notably, dysregulation of the WAVE complex and WAVE complex-mediated cellular processes confers vulnerability to a variety of brain disorders. De novo mutations in WAVE genes and other components of the WAVE complex have been identified in patients with developmental disorders such as intellectual disability, epileptic seizures, schizophrenia, and/or autism spectrum disorder. …”
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  17. 2437
  18. 2438

    YAT2150 is irresistible in Plasmodium falciparum and active against Plasmodium vivax and Leishmania clinical isolates by Inés Bouzón-Arnáiz, Mukul Rawat, Rachael Coyle, Lionel Brice Feufack-Donfack, Malen Ea, Agnes Orban, Jean Popovici, Lucía Román-Álamo, Antonino Nicolò Fallica, Bárbara Domínguez-Asenjo, Javier Moreno, Elsa M. Arce, Ana Mallo-Abreu, Diego Muñoz-Torrero, Marcus C. S. Lee, Xavier Fernàndez-Busquets

    Published 2025-01-01
    “…Using single-dose and ramping methods, assays were done to select Plasmodium falciparum parasites resistant to YAT2150 concentrations ranging from 3× to 0.25× the in vitro IC50 of the compound (in the two-digit nM range) and performed a cross-resistance assessment in P. falciparum lines harboring mutations that make them resistant to a variety of antimalarial drugs. …”
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  19. 2439
  20. 2440

    Case report: Advanced age at transplantation and pre-emptive treatment with dupilumab in DOCK8 deficiency by Sophia Trombello, Sophia Trombello, Andrea Jarisch, Andre Willasch, Eva Rettinger, Julia Fekadu-Siebald, Dirk Holzinger, Dirk Holzinger, Roland Adelmann, Peter Bader, Shahrzad Bakhtiar

    Published 2025-01-01
    “…Dedicator of cytokinesis 8 (DOCK8) deficiency is a combined immunodeficiency (CID) due to biallelic mutations in the gene encoding DOCK8. Major clinical phenomena are recurrent severe infections of the lungs and skin, atopic eczema, and predisposition to malignancy leading to a poor prognosis. …”
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