Showing 2,601 - 2,620 results of 2,988 for search '"mutation"', query time: 0.06s Refine Results
  1. 2601

    Loss of Lkb1 cooperates with BrafV600E and ultraviolet radiation, increasing melanoma multiplicity and neural‐like dedifferentiation by Kimberley McGrail, Elena González‐Sánchez, Paula Granado‐Martínez, Roberto Orsenigo, Yuxin Ding, Berta Ferrer, Javier Hernández‐Losa, Iván Ortega, Juan Martín‐Caballero, Eva Muñoz‐Couselo, Vicente García‐Patos, Juan A. Recio

    Published 2025-02-01
    “…Genetic profiling and gene set enrichment analyses of tumor sample mutated genes indicated that loss of Lkb1 promoted the selection of altered genes associated with neural differentiation processes. …”
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  2. 2602

    A novel mode of histone-like protein HupB regulating Sinorhizobium meliloti cell division through lysine acetylation by Ningning Li, Huibo Jin, Hongbo Li, Huilin Yu, Xiaoxu Wu, Tianci Zhang, Liangliang Yu, Zhaoling Qin, Li Luo

    Published 2025-01-01
    “…Lys3, Lys13, and Lys83 in HupB were identified as acetylated residues by mass spectrometry. Mutating these residues to arginine (stimulating non-acetylation) in HupB impedes normal cell division, while substituting them with glycine (mimicking acetylation) allows for rapid cell duplication. …”
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  3. 2603

    Lowering the affinity of single-chain monovalent BBB shuttle scFc-scFv8D3 prolongs its half-life and increases brain concentration by Andrés de la Rosa, Nicole G. Metzendorf, Jonathan Efverström, Ana Godec, Dag Sehlin, Jamie Morrison, Greta Hultqvist

    Published 2025-01-01
    “…Initially, in silico protein-protein docking analysis was performed to identify amino acids (AAs) likely to contribute to 8D3s TfR binding affinity. Mutating the identified AAs resulted in decreased TfR binding affinity, increased blood half-life and increased brain concentration. …”
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  4. 2604

    Selection of suitable reference genes for gene expression studies in HMC3 cell line by quantitative real-time RT-PCR by Martina Fazzina, Matteo Bergonzoni, Francesca Massenzio, Barbara Monti, Flavia Frabetti, Raffaella Casadei

    Published 2024-01-01
    “…PD onset and progression are associated with factors considered possible causes of neuroinflammation, i.e. genetic mutations. In vitro models of microglial cells were established to identify specific molecular targets in PD through the analysis of gene expression data. …”
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  5. 2605

    Iron metabolism in a mouse model of hepatocellular carcinoma by Dilay Yilmaz, Umesh Tharehalli, Rossana Paganoni, Paul Knoop, Andreas Gruber, Yuexin Chen, Rui Dong, Frank Leithäuser, Thomas Seufferlein, Kerstin Leopold, André Lechel, Maja Vujić Spasić

    Published 2025-01-01
    “…Abstract Hepatocellular carcinoma (HCC) remains the most prevalent type of primary liver cancer worldwide. p53 is one of the most frequently mutated tumor-suppressor genes in HCC and its deficiency in hepatocytes triggers tumor formation in mice. …”
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  6. 2606

    Applying the Concept of Peptide Uniqueness to Anti-Polio Vaccination by Darja Kanduc, Candida Fasano, Giovanni Capone, Antonella Pesce Delfino, Michele Calabrò, Lorenzo Polimeno

    Published 2015-01-01
    “…To design peptide-based anti-polio vaccines exempt from potential cross-reactivity risks and possibly able to reduce rare potential adverse events such as the postvaccine paralytic poliomyelitis due to the tendency of the poliovirus genome to mutate. Methods. Proteins from poliovirus type 1, strain Mahoney, were analyzed for amino acid sequence identity to the human proteome at the pentapeptide level, searching for sequences that (1) have zero percent of identity to human proteins, (2) are potentially endowed with an immunologic potential, and (3) are highly conserved among poliovirus strains. …”
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  7. 2607

    Phenogenetics of cortical granule dynamics during zebrafish oocyte-to-embryo transition by Priscila García-Castro, Isabella Giambó-Falian, Ingrid Carvacho, Ricardo Fuentes

    Published 2025-01-01
    “…These genes regulate various stages of CG biology, including biosynthesis, maturation, and exocytosis. Mutations in these genes disrupt these processes, highlighting the maternal genetic control over CG properties. …”
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  8. 2608

    Update on the Progress of Musashi-2 in Malignant Tumors by Yiting Niu, Tao Zhou, Yanjun Li

    Published 2025-01-01
    “…In recent years, research on the MSI protein has advanced, and many novel viewpoints and drug resistance attempts have been derived; for example, tumor protein p53 mutations and MSI-binding proteins lead to resistance to protein arginine N-methyltransferase 5-targeted therapy in lymphoma patients. …”
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  9. 2609

    Ethanolic Extract of Red Okra Pods Induces Aberrant Spindle Segregation and Apoptotic Cell Death by Disrupting the Wnt Signaling Pathway in Colon Cancer Cells by Firli Rahmah Primula Dewi, Sri Puji Astuti Wahyuningsih, Vuanghao Lim, Lionel Lian Aun In, Alfiah Hayati

    Published 2024-12-01
    “…Background: In approximately 80% of colorectal cancer cases, mutations in the adenomatous polyposis coli (APC) gene disrupt the Wingless-related integration site (Wnt)/β-catenin signaling pathway, a crucial factor in carcinogenesis. …”
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  10. 2610

    Comprehensive analysis reveals the tumor suppressor role of macrophage signature gene FCER1G in hepatocellular carcinoma by Deyu Kong, Yiping Zhang, Linxin Jiang, Nana Long, Chengcheng Wang, Min Qiu

    Published 2025-02-01
    “…Additionally, patients in the high-risk group exhibited elevated tumor stemness scores, although no significant differences were observed in microsatellite instability (MSI) and tumor mutational burden (TMB) scores. Immune-related analyses revealed that FCER1G expression was downregulated in HCC and was associated with key pathways such as apoptosis and ferroptosis. …”
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  11. 2611

    Pseudogenization of the Slc23a4 gene is necessary for the survival of Xdh-deficient mice by Kazuki Terada, Tamaki Watanabe, Nobuhiro Yasuno, Toshio Ohtsubo, Shigeru Shibata, Kimiyoshi Ichida, Makoto Hosoyamada

    Published 2025-01-01
    “…Abstract In most patients with type 1 xanthinuria caused by mutations in the xanthine dehydrogenase gene (XDH), no clinical complications, except for urinary stones, are observed. …”
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  12. 2612

    Identification of p53 and Its Isoforms in Human Breast Carcinoma Cells by Zorka Milićević, Vladan Bajić, Lada Živković, Jelena Kasapović, Uroš Andjelković, Biljana Spremo-Potparević

    Published 2014-01-01
    “…The observation that the p53 can express multiple protein isoforms adds a novel level of complexity to the outcome of p53 mutations. p53 expression was analysed by Western immunoblotting and immunohistochemistry using monoclonal antibodies DO-7, Pab240, and polyclonal antiserum CM-1. …”
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  13. 2613

    Genetic Polymorphisms of Interleukin-1 Alpha and the Vitamin D Receptor in Mexican Mestizo Patients with Intervertebral Disc Degeneration by Salvador Cervin Serrano, Dalia González Villareal, Maribel Aguilar-Medina, Jose Guillermo Romero-Navarro, Jose Geovanni Romero Quintana, Eliakym Arámbula Meraz, Ignacio Osuna Ramírez, Veronica Picos-Cárdenas, Julio Granados, Iris Estrada-García, Guzman Sánchez-Schmitz, Rosalío Ramos-Payán

    Published 2014-01-01
    “…Gene polymorphisms were analyzed by polymerase chain reaction followed by restriction fragment length polymorphism, in two groups matched by age and gender: patients with symptomatic lumbar IDD n=100 and subjects with normal lumbar-spine MRI-scans n=100. Distribution of the mutated alleles in patients and controls was 27.0% versus 28.0% P=0.455 for T of rs1800587 (IL1A); 53.0% versus 58.0% P=0.183 for V of rs2228570 (VDR); and 18.0% versus 21.0% P=0.262 for C of rs731236 (VDR). …”
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  14. 2614

    Pretreatment of Small-for-Size Grafts In Vivo by γ-Aminobutyric Acid Receptor Regulation against Oxidative Stress-Induced Injury in Rat Split Orthotopic Liver Transplantation by Tomohide Hori, Shinji Uemoto, Lindsay B. Walden, Feng Chen, Ann-Marie T. Baine, Toshiyuki Hata, Justin H. Nguyen

    Published 2013-01-01
    “…Immunohistological assessment for apoptotic induction and western blotting for 4-hydroxynonenal, ataxia-telangiectasia mutated kinase (ATM), histone H2AX, phosphatidylinositol-3 kinase (PI3K), Akt, and free radical scavenging enzymes were performed. …”
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  15. 2615

    Two complementing in vivo selection systems based on CCA-trimming exonucleases as a tool to monitor, select and evaluate enzymatic features of tRNA nucleotidyltransferases by Karolin Wellner, Josefine Gnauck, Dorian Bernier, Stephan H. Bernhart, Heike Betat, Mario Mörl

    Published 2025-12-01
    “…Furthermore, the combination of both RNase T and LCCR4 systems can be used to investigate and dissect the effects of pathogenic mutations on C- and A-addition.…”
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  16. 2616

    Smad1 Promotes Tumorigenicity and Chemoresistance of Glioblastoma by Sequestering p300 From p53 by Lingli Gong, Daxing Xu, Kaixiang Ni, Jie Li, Wei Mao, Bo Zhang, Zhening Pu, Xiangming Fang, Ying Yin, Li Ji, Jingjing Wang, Yaling Hu, Jiao Meng, Rui Zhang, Jiantong Jiao, Jian Zou

    Published 2025-01-01
    “…Disturbing the interface of Smad1 through amino acid mutations abolishes the Smad1‐p300 complex and promotes p53 acetylation. …”
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  17. 2617

    Endocrine Aspects of 4H Leukodystrophy: A Case Report and Review of the Literature by Emma Billington, Geneviève Bernard, William Gibson, Bernard Corenblum

    Published 2015-01-01
    “…She was subsequently found to have mutations in the POLR3B gene, which encodes the second largest subunit of RNA polymerase III. …”
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  18. 2618

    Characterization of the ZDSD Rat: A Translational Model for the Study of Metabolic Syndrome and Type 2 Diabetes by Richard G. Peterson, Charles V. Jackson, Karen Zimmerman, Willem de Winter, Norman Huebert, Michael K. Hansen

    Published 2015-01-01
    “…Many available animal models have monogenic leptin pathway mutations that are absent in the human population. …”
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  19. 2619

    An Unusually Short Latent Period of Therapy-Related Myeloid Neoplasm Harboring a Rare MLL-EP300 Rearrangement: Case Report and Literature Review by Reina Takeda, Kazuaki Yokoyama, Seiichiro Kobayashi, Toyotaka Kawamata, Sousuke Nakamura, Tomofusa Fukuyama, Mika Ito, Nozomi Yusa, Eigo Shimizu, Nobuhiro Ohno, Rui Yamaguchi, Seiya Imoto, Satoru Miyano, Kaoru Uchimaru, Arinobu Tojo

    Published 2019-01-01
    “…Next-generation sequencing analysis identified a rare chimeric transcript, MLL-EP300, without any additional somatic mutations. Although the patient underwent allogenic hematopoietic stem cell transplantation, she died of viral encephalomyelitis at 7 months after diagnosis of t-MN. …”
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  20. 2620

    Genomic Amplification of an Endogenous Retrovirus in Zebrafish T-Cell Malignancies by J. Kimble Frazer, Lance A. Batchelor, Diana F. Bradley, Kim H. Brown, Kimberly P. Dobrinski, Charles Lee, Nikolaus S. Trede

    Published 2012-01-01
    “…Somatically acquired mutations can disable some genes and inappropriately activate others. …”
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