Showing 1,681 - 1,700 results of 2,988 for search '"Mutation"', query time: 0.07s Refine Results
  1. 1681

    Identification of critical biomarkers and immune landscape patterns in glioma based on multi-database by Hanzhang Yuan, Jingsheng Cheng, Jun Xia, Zeng Yang, Lixin Xu

    Published 2025-01-01
    “…These 3 genes were found significantly correlated with clinicopathological features (age, WHO grade, IDH mutation status, 1p19q codeletion status). Furthermore, the overall survival (OS), disease-specific survival (DSS), and progression-free survival (PFS) were found to be positively correlated with high expression of these 3 potential biomarkers. …”
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    Article
  2. 1682

    Resolution of unilateral sensorineural hearing loss in a pediatric patient with a severe phenotype of Muckle-Wells syndrome treated with Anakinra: a case report and review of the l... by Cinzia Marchica, Faisal Zawawi, Dania Basodan, Rosie Scuccimarri, Sam J. Daniel

    Published 2018-01-01
    “…Genetic analysis was performed and diagnosis of MWS was confirmed due to the presence of a NLRP3 gene mutation. Further work-up demonstrated the presence of papilledema and elevation of systemic inflammatory markers for which Canakinumab was initiated. …”
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    Article
  3. 1683

    In Vivo Evaluation of the Combined Anticancer Effects of Cisplatin and SAHA in Nonsmall Cell Lung Carcinoma Using [18F]FAHA and [18F]FDG PET/CT Imaging by Skye Hsin-Hsien Yeh, Ming Hsien Lin, I. I. Leo Garcia Flores, Uday Mukhopadhyay, Danial Young, Kazuma Ogawa, Jeong-Hwan Jeong, William Tong, Juri G. Gelovani, Nobuyoshi Fukumitsu

    Published 2021-01-01
    “…Moreover, SAHA had a more significant effect on the acetylome in PC14 (EGFR exon 19 deletion mutation) xenografts than H441 (wild-type EGFR and KRAS codon 12 mutant) xenografts. …”
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    Article
  4. 1684

    Developing transcriptomic biomarkers for TAVO412 utilizing next generation sequencing analyses of preclinical tumor models by Ying Jin, Peng Chen, Huajun Zhou, Guangmao Mu, Simin Wu, Zhengxia Zha, Bin Ma, Chao Han, Mark L. Chiu, Mark L. Chiu

    Published 2025-02-01
    “…Together with specific driver mutation that associated with efficacy and the targets of TAVO412, a set of 21-gene biomarker was identified to predict the efficacy. …”
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    Article
  5. 1685

    Mutagenicity and Acute Oral Toxicity Test for Herbal Poultry Feed Supplements by Boddapati Srinivasa Rao, C. V. Chandrasekaran, H. S. Srikanth, Murugan Sasikumar, R. Edwin Jothie, Begum Haseena, Bethapudi Bharathi, Ramasamy Selvam, D’Souza Prashanth

    Published 2018-01-01
    “…The present study was designed to investigate five poultry feed supplements (PFS), EGMAX® (to revitalize ovarian activity), FEED-X™ (feed efficiency enhancer), KOLIN PLUS™ (natural replacer of synthetic choline chloride), PHYTOCEE® (natural defence enhancer), and STODI® (to prevent and control loose droppings), for their possible mutagenicity and toxicity. Bacterial reverse mutation (BRMT) and acute oral toxicity tests were employed to assess the PFS for their possible mutagenicity and toxicity. …”
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    Article
  6. 1686

    Application of the New Classification on Patients with a Disorder of Sex Development in Indonesia by A. Zulfa Juniarto, Yvonne G. van der Zwan, Ardy Santosa, Remko Hersmus, Frank H. de Jong, Renske Olmer, Hennie T. Bruggenwirth, Axel P. N. Themmen, Katja P. Wolffenbuttel, Leendert H. J. Looijenga, Sultana M. H. Faradz, Stenvert L. S. Drop

    Published 2012-01-01
    “…In all 58 46, XY DSD patients, 29 were suspected of a disorder of androgen action (12 with an androgen receptor mutation), and in 9, gonadal dysgenesis was found and, in 20, severe hypospadias e.c.i. …”
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  7. 1687

    Failure mechanics mechanisms and permeability stage evolution of limestone considering wave velocity and failure surface characteristics by Genshui Wu, Weijian Yu, Bao Pan, Chuangfeng Fang, Hanxiao Guo, Chao Zhang

    Published 2025-02-01
    “…Because rock permeability varies with confining pressure and axial pressure, there is a stress threshold for penetration mutation at each stage. The linear and nonlinear stage evolution characteristics of deep rock permeability and stress with confining pressure are established. …”
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  8. 1688

    Two Cysteines in Raf Kinase Inhibitor Protein Make Differential Contributions to Structural Dynamics In Vitro by Hyun Sang Cho, Mohammad Faysal Al Mazid, Eun-Young Lee, Md Abu Rayhan, Hyoun Sook Kim, Byung Il Lee, Hye Jin You

    Published 2025-01-01
    “…Here, we identified the role of cysteine 133 in RKIP structural dynamics using recombinant human RKIP (rhRKIP) proteins purified from <i>Escherichia coli</i> BL21(DE3) cells. Mutation of alanine or serine instead of cysteine in RKIP proteins did not affect the biochemical characteristics, while dynamic light scattering and liquid chromatography (LC) quadrupole time-of-flight (Q-TOF) mass spectrometry (MS) suggested distinct peaks in solution, which were identified via LC–MS/MS analyses, and further clarified the role of cysteine in RKIP dimerization. rhRKIP dimer formation was abrogated by a 32-aa peptide mimicking the region between two RKIP proteins for dimerization. …”
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  9. 1689

    Association of AFF3 Gene Polymorphism rs10865035 with Rheumatoid Arthritis: A Population-Based Case-Control Study on a Pakistani Cohort by Yasir Ali, Suleman Khan, Yangchao Chen, Nadia Farooqi, Zia-Ul Islam, Mehran Akhtar, Aamir, Aisha Aman, Aftab Ali Shah, Muhsin Jamal, Fazal Jalil

    Published 2021-01-01
    “…A total of 703 individuals, including 409 RA patients and 294 healthy controls, were genotyped using TaqMan assay and Tri primer ARMS-PCR (amplification-refractory mutation system-polymerase chain reaction) methods. …”
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    Article
  10. 1690

    Clinical analysis of pulmonary mucosa-associated lymphoid tissue lymphoma coexisting with lung cancer by Heng Yang, Man-Hui Li, Qiu-Hong Li, Ke-Bin Cheng, Wei-Jun Cao

    Published 2025-01-01
    “…Five cases exhibited EGFR mutant, and one case showed no mutation. 13 patients were pathological confirmed with lung adenocarcinoma and one with microcarcinoma. …”
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    Article
  11. 1691
  12. 1692

    Resting state EEG in young children with Tuberous Sclerosis Complex: associations with medications and seizures by Caitlin C. Clements, Anne-Michelle Engelstad, Carol L. Wilkinson, Carly Hyde, Megan Hartney, Alexandra Simmons, Helen Tager-Flusberg, Shafali Jeste, Charles A. Nelson

    Published 2025-01-01
    “…Abstract Background Tuberous Sclerosis Complex (TSC) is a rare genetic condition caused by mutation to TSC1 or TSC2 genes, with a population prevalence of 1/7000 births. …”
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    Article
  13. 1693

    Genome-based analysis of the genetic pattern of black sheep in Qira sheep by Wen Zhou, Xiaopeng Li, Xuechen Zhang, Lijun Zhu, Yuwei Peng, Cheng-long Zhang, Zhipeng Han, Ruizhi Yang, Xinyu Bai, Quanfeng Wang, Yuejun Zhao, Shudong Liu

    Published 2025-02-01
    “…Conclusion In this paper, Qira sheep could not differentiate the genetic structure of this population by wool color, and obtained 71 SNPs related to black wool. Detection of mutation sites on the TYRP1 gene affecting hair color change provides a basis for black sheep line selection as well as breed conservation.…”
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  14. 1694

    Unusual Presentation of Recurrent Early Stage Endometrial Carcinoma 28 Years after Primary Surgery by Alessandro Franchello, Gianruggero Fronda, Giacomo Deiro, Alessia Fiore, Davide Cassine, Luca Molinaro, Luigi Chiusa, Sara Galati, Andrea Resegotti, Stefano Silvestri

    Published 2015-01-01
    “…Patient had also familiar and personal history of colonic adenocarcinoma and previous findings of microsatellite instability (MSI); molecular analysis evidenced heterozygotic somatic mutation in MLH1 gene. Twenty-eight years after hysterectomy and bilateral salpingoovariectomy, a rectal wall mass was detected during routine colonoscopy. …”
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  15. 1695

    Identification of Survival Risk and Immune-Related Characteristics of Kidney Renal Clear Cell Carcinoma by Xiaobin Wu, Yonghui Liang, Xian Chen, Xiangyang Long, Wujun Xu, Li Liu, Binhui Wang, Xiong Zou

    Published 2022-01-01
    “…A series of information such as RNA sequence, clinical data, and tumor mutation burden (TMB) of KIRC patients were downloaded through The Cancer Genome Atlas (TCGA). …”
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  16. 1696

    A Novel Mouse Model of Alzheimer's Disease with Chronic Estrogen Deficiency Leads to Glial Cell Activation and Hypertrophy by Annik Prat, Maik Behrendt, Edwige Marcinkiewicz, Sebastien Boridy, Ram M. Sairam, Nabil G. Seidah, Dusica Maysinger

    Published 2011-01-01
    “…These chimeric mice exhibit a total FSH-R knockout (FORKO) and carry two transgenes, one expressing the β-amyloid precursor protein (APPsw, Swedish mutation) and the other expressing presenilin-1 lacking exon 9 (PS1Δ9). …”
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  17. 1697

    Case report: an unusual long-term evolution of a diffuse midline glioma, H3K27 altered by Michael Griessmair, Michael Griessmair, Claire Delbridge, Claus Zimmer, Eva Mayr, Arthur Wagner, Julian Canisius, Marie-Christin Metz, Benedikt Wiestler, Benedikt Wiestler

    Published 2025-02-01
    “…Molecular neuropathology revealed the diagnosis of diffuse midline glioma with a H3K27M mutation WHO (World Health Organization) CNS (central nervous system) grade 4. …”
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    Article
  18. 1698

    The potential of the amaranth collection maintained at VIR in the context of global plant breeding and utilization trends by D. V. Sokolova, A. E. Solovieva, A. M. Zaretsky, T. V. Shelenga

    Published 2024-11-01
    “…At present, selection and hybridization still remain the main amaranth breeding techniques. Meanwhile, mutation breeding and polyploidy have been successfully employed to increase its seed yield and protein content. …”
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  19. 1699

    Brincidofovir Use after Foscarnet Crystal Nephropathy in a Kidney Transplant Recipient with Multiresistant Cytomegalovirus Infection by Romain Vial, Christine Zandotti, Sophie Alain, Alexandre Decourt, Noémie Jourde-Chiche, Raj Purgus, Charleric Bornet, Laurent Daniel, Valérie Moal, Tristan Legris

    Published 2017-01-01
    “…However, a new relapse could not be effectively cured by BCV due to a new mutation in the UL54 gene, which is known to confer resistance to cidofovir. …”
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  20. 1700

    Pan-Cancer Analysis of Disulfidptosis-Related Genes Affecting Prognosis and Tumor Microenvironment by Jingyang SUN, Rongxuan JIANG, Liren HOU, Huanhuan DONG, Yihan LIN, Niuniu DONG, Guangjian ZHANG, Yanpeng ZHANG

    Published 2025-01-01
    “…MethodsPan-cancer RNA-seq data, mutation profiles, clinical information, TMB, MSI, stemness scores, and tumor and immune microenvironment data contained in TCGA and various open-source online databases, and multi-group R-language algorithms were used for comprehensive analysis. …”
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    Article