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  1. 13961

    Assessing the Impact of Aldose Reductase (ALR2) Regulatory Gene Polymorphism in Diabetic Retinopathy Patients by Hadiza Rabe Musa, Amina Rabe Musa, Yahuza Gimba Muhammed, Usman Salisu Batagarawa, Aminu Ibrahim

    Published 2024-12-01
    “…Diabetic retinopathy, a serious complication of diabetes, may be influenced by genetic factors, including the Aldose Reductase (ALR2) gene polymorphism. …”
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  2. 13962

    Ibuprofen reduces inflammation, necroptosis and protects photoreceptors from light-induced retinal degeneration by Ping-Wu Zhang, Zi-He Wan, Weifeng Li, Abhishek Vats, Kunal Mehta, Laura Fan, Lingli Zhou, Sean Li, Gloria Li, Casey J. Keuthan, Cynthia Berlinicke, Cheng Qian, Noriko Esumi, Elia J Duh, Donald J. Zack

    Published 2025-01-01
    “…Unfortunately, current treatments for these diseases are limited at best. Genetic and other preclinical evidence suggest a relationship between retinal degeneration and inflammation. …”
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  3. 13963

    Molecular testing stratifies the risk of structural recurrence in high risk differentiated thyroid cancer: a retrospective cohort study by Jie Liu, Wensi Gao, Xiong Zheng, Shuping Wu, Yi Shi, Feng Wang, Yu Wu

    Published 2025-01-01
    “…Multivariate COX regression analysis confirmed that molecular characterize groups (HR: 5.77, 95% CI: 2.18-15.23, p < 0.001) and tumor size (HR: 1.32, 95% CI: 1.00-1.74, p = 0.047) independently predicted recurrence-free survival.ConclusionATA-RSS high-risk differentiated thyroid cancer often presents with late-hit genetic alterations, which are strongly associated with increased likelihood of structural recurrence. …”
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  4. 13964

    Global insights into the genome dynamics of Clostridioides difficile associated with antimicrobial resistance, virulence, and genomic adaptations among clonal lineages by Mohammad Sholeh, Mohammad Sholeh, Masoumeh Beig, Masoumeh Beig, Ebrahim Kouhsari, Mahdi Rohani, Mohammad Katouli, Farzad Badmasti

    Published 2025-01-01
    “…Gene presence patterns (GPP-1) for resistance, virulence, and toxin genes were primarily linked to ST2, ST42, and ST8.ConclusionThis study highlights C. difficile’s adaptability and genetic diversity. The decline in toxin genes reflects fewer toxigenic isolates, but the bacterium’s increasing preserved resistance factors and virulence genes enable its rapid evolution. …”
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  5. 13965

    Investigating the dual causative pathways linking immune cells and venous thromboembolism via Mendelian randomization analysis by Ning Qi, Zhuochen Lyu, Lu Huang, Yun Zhao, Wan Zhang, Xinfeng Zhou, Yang Zhang, Jiasen Cui

    Published 2025-01-01
    “…Abstract Background Venous thromboembolism (VTE) is a common vascular disease with a significant global burden, influenced by multiple factors, such as genetic, environmental, and immune components. Immune responses and shifts in immune cell profiles are closely linked to the development and progression of VTE, yet current studies are limited by confounding factors and reverse causation. …”
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  6. 13966
  7. 13967

    Efficacy and safety of various drug combinations in treating plaque Psoriasis: A meta-analysis [version 2; peer review: 2 approved] by Nayak Snehasis, Karshe Haji Ali, Pendyala Siri, Ngabo Herve, Sayed Zafar

    Published 2025-01-01
    “…Background Psoriasis, a chronic inflammatory disease affecting the skin, joints, and nails (2-3% worldwide), significantly affects quality of life. Genetic and environmental factors also play key roles. …”
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  8. 13968

    Analysis of early effects of human APOE isoforms on Alzheimer’s disease and type III hyperlipoproteinemia pathways using knock-in rat models with humanized APP and APOE by Metin Yesiltepe, Tao Yin, Marc Tambini, Hanmei Bao, Meixia Pan, Cristina d’Abramo, Luca Giliberto, Xianlin Han, Luciano D’Adamio

    Published 2024-09-01
    “…Abstract APOE is a major genetic factor in late-onset Alzheimer’s disease (LOAD), with APOE4 increasing risk, APOE3 acting as neutral, and APOE2 offering protection. …”
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  9. 13969

    Integrating bulk and single-cell RNA sequencing data: unveiling RNA methylation and autophagy-related signatures in chronic obstructive pulmonary disease patients by Shi-Xia Liao, Lan-Ying Zhang, Ling-Mei Shi, Huai-Yu Hu, Yan-Hui Gu, Ting-Hua Wang, Yao Ouyang, Peng-Peng Sun

    Published 2025-02-01
    “…These findings provide novel genetic insights into the epigenetic mechanisms of COPD and suggest potential avenues for developing diagnostic and therapeutic strategies.…”
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  10. 13970

    Efficacy of PARPi re-maintenance therapy for recurrent ovarian cancer by Yulin Wang, Yunjie Yang, Binghong Guo, Binghong Guo, Xiaoyan Li, Renakezi Tuersun, Ye Cao, Jundong Li, Jihong Liu, Su Li, Tao Liu, Yongwen Huang

    Published 2025-01-01
    “…The incidence of PARRi re-treatment interruption was 3.9%.ConclusionPARPi re-maintenance therapy in PSROC might improve prognosis compared to chemotherapy alone, regardless of their genetic mutation status. Patients with re-maintenance therapy might benefit if the interval between the use of PARP inhibitors exceeded 6 months. …”
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  11. 13971

    Eu:CROPIS AIV Program: Challenges and Solutions for a Spin-Stabilized Satellite Containing Biology by Toni Delovski, Catherin Düvel, Fabian Greif, Ansgar Heidecker, Sebastian Kottmeier, Olaf Mierheim, Falk Nohka, Fabian Orlowski-Feldhusen

    Published 2019-01-01
    “…A secondary payload (“PowerCells”) by the NASA Ames Research Center also utilizes the artificial gravity to conduct growth experiments on genetically modified organisms (GMOs). These payloads and the system design imposed constraints which affected the Assembly Integration and Verification (AIV) program in various ways and created challenges for the relatively small team to find solutions for. …”
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  12. 13972

    The Influence of Edaphic and Climatic Factors on the Morphophysiological Behavior of Young Argan Plants Cultivated in Orchards: A Comparative Analysis of Three Regions in Southwest... by Fatima Ezzahra Tiouidji, Assma Oumasst, Salma Tabi, Naima Chabbi, Abdelaziz Mimouni, Meriyem Koufan, Naima Ait Aabd, Abdelghani Tahiri, Youssef Karra, Jamal Hallam, Redouan Qessaoui, Rachid Bouharroud, Fouad Elame, Nadya Wahid, Ahmed Wifaya

    Published 2025-01-01
    “…It seems that the only viable solution lies in the domestication of this genetic heritage. This study marks the first in-depth investigation of the impact of various climatic and edaphic factors on the morphological and physiological traits <i>of Argania spinosa</i> young plants, assessed in six separate orchards and observed over four seasons (March 2022 (Winter), June 2022 (Summer), November 2022 (Autumn), and March 2023 (Winter)). …”
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  13. 13973

    Mucosal SARS-CoV-2 S1 adenovirus-based vaccine elicits robust systemic and mucosal immunity and protects against disease in animals by Najwa D. Aljehani, Levi Tamming, Muhammad Yasir Khan, Rwaa H. Abdulal, Mohamed A. Alfaleh, Aishah Ghazwani, Asalah Helal, Reem M. Alsulaiman, Mohammad A. Sanki, Khalid Alluhaybi, Farah Ayman Sukareh, Rahaf H. Alharbi, Faris H. Alyami, M-Zaki ElAssouli, Salima Shebbo, Wesam H. Abdulaal, Abdullah Algaissi, Ahmad Bakur Mahmoud, Mohammad Basabrain, Diana Duque, Jegarubee Bavananthasivam, Wangxue Chen, Lisheng Wang, Simon Sauve, Turki S. Abujamel, Tarfa Altorki, Rowa Alhabbab, Anh Tran, Xuguang Li, Anwar M. Hashem

    Published 2025-01-01
    “…These findings suggest that IN delivery of rAd5-SARS2-S1 could be a promising approach for inducing mucosal and systemic immunity, offering enhanced protection against SARS-CoV-2 and emerging variants.IMPORTANCEThis publication presents an assessment of the immune response and effectiveness of a vaccine containing genetically modified non-replicating recombinant that expresses the S1 subunit protein of SARS-CoV-2. …”
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  14. 13974
  15. 13975

    Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder by Itay Tokatly Latzer, Jean-Baptiste Roullet, Wardiya Afshar-Saber, Henry H. C. Lee, Mariarita Bertoldi, Gabrielle E. McGinty, Melissa L. DiBacco, Erland Arning, Melissa Tsuboyama, Alexander Rotenberg, Thomas Opladen, Kathrin Jeltsch, Àngels García-Cazorla, Natalia Juliá-Palacios, K. Michael Gibson, Mustafa Sahin, Phillip L. Pearl

    Published 2024-04-01
    “…Methods SSADHD subjects underwent clinical evaluations, neuropsychological assessments, biochemical quantification of γ-aminobutyrate (GABA) and related metabolites, electroencephalography (standard and high density), magnetoencephalography, transcranial magnetic stimulation, magnetic resonance imaging and spectroscopy, and genetic tests. This was parallel to laboratory molecular investigations of in vitro GABAergic neurons derived from induced human pluripotent stem cells (hiPSCs) of SSADHD subjects and biochemical analyses performed on a versatile murine model that uses an inducible and reversible rescue strategy allowing on-demand and cell-specific gene therapy. …”
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  16. 13976

    Clinicopathological and molecular characterization of astrocytoma by Xiaoyan Wu, Wenfeng Peng, Xu Zhang, Tao Tang, Ling Deng, Yuxia Xu, Xiaoyun Liu, Fang Wang, Wujian Peng, Jianrong Huang, Xiaoni Zhong

    Published 2025-02-01
    “…Clinical features, histological findings, and immunohistochemistry results were reviewed and analyzed. Genetic alterations were identified using fluorescence in situ hybridization (FISH) and next-generation sequencing (NGS), followed by patient follow-up.ResultsThe study included four female patients, ranging in age from 8 to 44 years. …”
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  17. 13977

    Disproportionate Distribution of HBV Genotypes A and D and the Recombinant Genotype D/E in the High and Low HBV Endemic Regions of Uganda: A Wake-Up Call for Regional Specific HBV... by Hussein Mukasa Kafeero, Dorothy Ndagire, Ponsiano Ocama, Charles Drago Kato, Eddie Wampande, Henry Kajumbula, David Kateete, Abdul Walusansa, Ali Kudamba, Kigozi Edgar, Fred Ashaba Katabazi, Maria Magdalene Namaganda, Jamilu E. Ssenku, Hakim Sendagire

    Published 2022-01-01
    “…Automated DNA sequencing was performed using BigDye Terminator v3.1 Cycle Sequencing Kit on 3130 Genetic Analyzer (Applied Biosystems, USA). The NCBI HBV genotyping tool (https://www.ncbi.nlm.nih.gov/projects/genotyping/formpage.cgi) was used for determination of genotype for each HBV sequence. …”
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  18. 13978

    Antibiotic resistance genotype, phenotype, and clinical outcomes in patients with Gram-negative infections at Rabin Medical Center in Israel by Rachelle E. Koch, Jackson Barth, Andrew E. Clark, Dhara Desai, Jiwoong Kim, Christine A. Pybus, Xiaowei Zhan, Leonard Leibovici, Dafna Yahav, David E. Greenberg

    Published 2025-01-01
    “…However, a better understanding of the relationship between bacterial genetic markers, phenotypic resistance, and clinical outcomes is needed. …”
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  19. 13979

    RECQL4 affects MHC class II‐mediated signalling and favours an immune‐evasive signature that limits response to immune checkpoint inhibitor therapy in patients with malignant melan... by Sara Egea‐Rodriguez, Renáta Váraljai, Thierry M. Nordmann, Restuan Lubis, Manuel Philip, Florian Rambow, Alexander Roesch, Michael Flaig, Susanne Horn, Raphael Stoll, Fang Zhao, Annette Paschen, Bert Klebl, Ian D. Hickson, Dirk Schadendorf, Matthias Mann, Iris Helfrich

    Published 2025-01-01
    “…Finally, we generated genetically engineered RECQL4 variants and conducted comprehensive multi‐omic profiling, employing techniques such as liquid chromatography with tandem mass spectrometry, to elucidate mechanistic insights. …”
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  20. 13980

    Performance of a hybrid capture-based target enrichment next-generation sequencing for the identification of respiratory pathogens and resistance-associated genes in patients with... by Wei-Yu Hsu, Ting-Wei Kao, Hsin-Ching Cho, Sheng-Yuan Ruan, Tai-Fen Lee, Yu-Tsung Huang, Jung-Yien Chien

    Published 2025-01-01
    “…Advanced techniques such as polymerase chain reaction (PCR) and next-generation sequencing (NGS) offer rapid genetic pathogen detection and identification of antimicrobial resistance (AMR) genes. …”
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