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Nonsense mutation

Anticodon-edited tRNA enables translational readthrough of COL4A5 premature termination codons

Kohei Omachi, Joseph J. Porter, John D. Lueck, Jeffrey H. Miner

published 19 Dec 2025

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Generational mutation patterns in a honey bee Deformed wing virus via infectious clones

Anthony Nearman, Alriana Buller-Jarrett, Dawn Boncristiani, Eugene Ryabov, Yanping Chen, Jay D. Evans

published 19 Nov 2025

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Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major

Torin Abdulaziz Sadoon, Hemin Esmael Othman

published 07 Nov 2025

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Interferon-gamma 1b-induced gene expression alters neutrophil function in patients with chronic granulomatous disease

Daniel R. Ambruso, Natalie J. Briones, Alexander D. Tran, Bridget Sanford, Christine Childs, Ben Z. Katz, Michael Ellison, Richard B. Johnston, Kenneth L. Jones

published 08 Sep 2025

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Derivation of a novel multi‐gene prognostic model based on regulated cell death pathways in acute myeloid leukemia: A comprehensive bioinformatic analysis integrating gene expression, mutation profiling, and immune infiltration

Ali Ahmadi, Amir Abas Navidinia, Davood Bashash, Behzad Poopak, Shadi Esmaeili

published 01 Aug 2025

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Whole genome sequencing revealed esophageal squamous cell carcinoma related biomarkers

Mingjun Li, Lei Li, Xizi Wang, Yanwei Zhao, Peina Du, Wei Wang, Zhenxing Wang, Yadong Wang, Yanxing Sheng, Mingliang Gu, Xiaodong Jia

published 26 Jun 2025

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Dissemination of local sub-variants of SARS-CoV-2 detected by detailed mutation analysis in wastewater-based epidemiology

Ryo Honda, Takashi Abe, Tomoya Baba, Yui Araki, Tomohiro Kuroita, Ryo Iwamoto, Mayo Ito, Nami Okamura, Marie Kenza Yousri, Takashi Tamura, Satoshi Ezaki, Masanori Arita

published 28 May 2025

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Genetic variations and recurrence in stage III Korean colorectal cancer: Insights from tumor-only mutation analysis

Hajin Jeon, Jong Lyul Lee, Hyeran Shim, Soobok Joe, Iksu Byeon, Chan Wook Kim, Seok-Byung Lim, In Ja Park, Yong Sik Yoon, Hoang Bao Khanh Chu, Young-Joon Kim, Chang Sik Yu, Jin Ok Yang

published 23 May 2025

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Whole-genome resequencing reveals collagen-related genes in Kele pigs

Yu Dan Zhang, Wei Yuan, Huan Bi, Xiao Yang, Yi Yu Zhang, Wei Chen

published 31 Dec 2024

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Distribution of lineages and type II toxin-antitoxin systems among rifampin-resistant Mycobacterium Tuberculosis Isolates

Maryam Shafipour, Abdolmajid Mohammadzadeh, Pezhman Mahmoodi, Mahdi Dehghanpour, Ezzat Allah Ghaemi

published 24 Oct 2024

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Analysis of low-density lipoprotein receptor gene mutations in a family with familial hypercholesterolemia

Ya-nan Hu, Min Wu, Hong-ping Yu, Qiu-yan Wu, Ying Chen, Jian-Hui Zhang, Dan-dan Ruan, Yan-ping Zhang, Jing Zou, Li Zhang, Xin-fu Lin, Zhu-ting Fang, Li-Sheng Liao, Fan Lin, Hong Li, Jie-Wei Luo

published 11 Oct 2024

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Comparative genomic landscape of lower-grade glioma and glioblastoma

Xinxin Sun, Qingbin Jia, Kun Li, Conghui Tian, Lili Yi, Lili Yan, Juan Zheng, Xiaodong Jia, Mingliang Gu

published 29 Aug 2024

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Avirulence of a spontaneous Francisella tularensis subsp. mediasiatica prmA mutant

Vitalii Timofeev, Irina Bakhteeva, Galina Titareva, Raisa Mironova, Vera Evseeva, Tatiana Kravchenko, Angelika Sizova, Alexander Borzilov, Natalia Pavlovich, Alexander Mokrievich, Ivan Dyatlov, Gilles Vergnaud

published 18 Jun 2024

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