Establishment of a prognostic signature and immune infiltration characteristics for uterine corpus endometrial carcinoma based on a disulfidptosis/ferroptosis-associated signature by Yong Huang, Huibin Li, Zhifu Wei, Wanshan He, Bin Chen, Shuang Cheng, Zhifang Zhao, Lv Deng, Lv Deng, Xiaohua Chen, Yu Lin, Yu Lin, Xiaoshan Hong, Xiaoshan Hong

“…To further explore this new feature, pathway and functional analyses were performed, and the differences in gene mutation frequency and the level of immune cell infiltration between the high- and low-risk groups were studied. …”
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Los olvidados: Non-BRCA variants associated with Hereditary breast cancer in Mexican population by Dione Aguilar, María Lourdes Garza-Rodríguez, Carolina Elizabeth Muñiz-Garza, Fernando Alcorta Nuñez, Cynthia Mayte Villarreal-Garza, Oscar Vidal-Gutiérrez, Diana Cristina Pérez-Ibave, Carlos Horacio Burciaga-Flores

“…The optimal approach to cancer treatment for non-BRCA mutation carriers warrants further investigation to develop newer therapies.…”
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A prognostic signature of Glutathione metabolism-associated long non-coding RNAs for lung adenocarcinoma with immune microenvironment insights by Junxi Hu, Junxi Hu, Shuyu Tian, Shuyu Tian, Qingwen Liu, Qingwen Liu, Jiaqi Hou, Jiaqi Hou, Jun wu, Jun wu, Xiaolin Wang, Xiaolin Wang, Yusheng Shu, Yusheng Shu

“…High-risk patients showed increased tumor mutation burden (TMB) and stemness, emphasizing the potential of personalized immunotherapy to improve survival outcomes.…”
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Low-exhaustion peripheral circulating γδ T cells serve as a biomarker for predicting the clinical benefit rate of non-small cell lung cancer (NSCLC) patients to chemotherapy or tar... by Dongdong Zhang, Guichao Liu, Jinhui Ye, Ke Li, Guojun Zhang, Qiang Quan, Xinhai Zhu, Peng Li

“…Moreover, responder patients exhibited elevated levels of TNF-α compared to non-responders, irrespective of EGFR mutation status (NR vs. R, EGFR-Mut, P = 0.0055; EGFR-WT, P = 0.0007). …”
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NKAPL facilitates transcription pause-release and bridges elongation to initiation during meiosis exit by Zhenlong Kang, Chen Xu, Shuai Lu, Jie Gong, Ruoyu Yan, Gan Luo, Yuanyuan Wang, Qing He, Yifei Wu, Yitong Yan, Baomei Qian, Shenglin Han, Zhiwen Bu, Jinwen Zhang, Xian Xia, Liang Chen, Zhibin Hu, Mingyan Lin, Zheng Sun, Yayun Gu, Lan Ye

“…Genetic variants in NKAPL are associated with azoospermia in humans, while mice carrying an NKAPL frameshift mutation (M349fs) show defective meiotic exit and transcriptomic changes similar to NKAPL depletion. …”
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Genome-Wide Genomic Analysis and Evolutionary Insights into Bovine Coronavirus Strains in Southwest China by Qingqing Li, Huili Bai, Yan Pan, Yuying Liao, Zhe Pei, Cuilan Wu, Chunxia Ma, Zhongwei Chen, Changting Li, Yu Gong, Jing Liu, Yangyan Yin, Ling Teng, Leping Wang, Ezhen Zhang, Tianchao Wei, Hao Peng

“…To elucidate the genetic evolution and characterisation of the prevalent strains, the results of BCoV sequences were compared in GenBank, with a focus on genetic evolution, mutation, and recombination patterns. The results showed close homology between strains NN190313 and NN230328, while strain NN221214 showed less similarity to these two strains but clustered with the French strain of the European branch. …”
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Rare Somatic MEN1 Gene Pathogenic Variant in a Patient Affected by Atypical Parathyroid Adenoma by Luigia Cinque, Flavia Pugliese, Celeste Clemente, Stefano Castellana, Maria Pia Leone, Danilo de Martino, Teresa Balsamo, Claudia Battista, Tommaso Biagini, Paolo Graziano, Marco Castori, Alfredo Scillitani, Vito Guarnieri

“…We report the second case of a rare association of a somatic MEN1 gene mutation in a patient with atypical parathyroid adenoma. …”
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The Prognostic Value and Overexpression of Cyclin A Is Correlated with Gene Amplification of both Cyclin A and Cyclin E in Breast Cancer Patient by A. Husdal, G. Bukholm, I. R. K. Bukholm

“…The impact of TP53 gene mutations on gene amplification of cyclins was also evaluated. …”
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Personalized prediction of anticancer potential of non-oncology drugs through learning from genome derived molecular pathways by Xiaobao Dong, Huanhuan Liu, Ting Tong, Liuxing Wu, Jianhua Wang, Tianyi You, Yongjian Wei, Xianfu Yi, Hongxi Yang, Jie Hu, Haitao Wang, Xiaoyan Wang, Mulin Jun Li

“…Herein we present CHANCE, a supervised machine learning model designed to predict the anticancer activities of non-oncology drugs for specific patients by simultaneously considering personalized coding and non-coding mutations. Utilizing protein–protein interaction networks, CHANCE harmonizes multilevel mutation annotations and integrates pharmacological information across different drugs into a single model. …”
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Comprehensive pan-cancer analysis reveals NTN1 as an immune infiltrate risk factor and its potential prognostic value in SKCM by Fuxiang Luan, Yuying Cui, Ruizhe Huang, Zhuojie Yang, Shishi Qiao

“…Prognostic value was evaluated through univariate Cox regression and Kaplan–Meier methods. Mutation and methylation analyses were conducted using the cBioPortal and SMART databases. …”
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Altered functional brain connectivity in Dyt1 knock-in mouse models by R. Z. Adury, B. J. Wilkes, P. Girdhar, Y. Li, D. E. Vaillancourt, D. E. Vaillancourt, D. E. Vaillancourt

“…In this study, we aimed to elucidate the impact of the GAG TorsinA mutation present globally and when restricted to the cortical and hippocampal neurons. …”
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An Adult Patient with Systemic Mastocytosis and B-Acute Lymphoblastic Leukemia by Theodoros Iliakis, Niki Rougkala, Panagiotis T. Diamantopoulos, Vasiliki Papadopoulou, Fani Kalala, Konstantinos Zervakis, Nefeli Giannakopoulou, Polixeni Chatzinikolaou, Georgia Levidou, Eleftheria Lakiotaki, Penelope Korkolopoulou, Efstratios Patsouris, Eleni Variami, Nora-Athina Viniou

“…Imatinib mesylate (IM) has a role in the treatment of SM in the absence of the KITD816V mutation. In the setting of SM-AHNMD, eradicating the nonmast cell malignant clone greatly affects prognosis. …”
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Non-carbapenem-producing carbapenem-resistant Pseudomonas aeruginosa in children: Risk factors, molecular epidemiology, and resistance mechanism by Lijun Yin, Lu Lu, Leiyan He, Gangfeng Yan, Guoping Lu, Xiaowen Zhai, Chuanqing Wang

“…The primary mechanism driving carbapenem resistance involved the downregulation of outer membrane porin protein oprD, accompanied by oprD mutation inactivation.…”
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Neoadjuvant pyrotinib and trastuzumab in HER2-positive breast cancer with no early response (NeoPaTHer): efficacy, safety and biomarker analysis of a prospective, multicentre, resp... by Fei Wang, Yongjiu Wang, Bin Xiong, Zhenlin Yang, Jingfen Wang, Yumin Yao, Lixiang Yu, Qinye Fu, Liang Li, Qiang Zhang, Chao Zheng, Shuya Huang, Liyuan Liu, Chun Liu, Huaibo Sun, Beibei Mao, Dong-Xu Liu, Zhigang Yu

“…No new adverse events were observed with the addition of pyrotinib. Patients with co-mutations of TP53 and PIK3CA exhibited lower rates of early partial response compared to those without or with a single gene mutation (36.0% vs. 60.0%, P = 0.08). …”
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Evaluation of Influenza Vaccine Effectiveness from 2021 to 2024: A Guangdong-Based Test-Negative Case–Control Study by Liyan Zhu, Ying Han, Jiahai Lu, Jianhao Tan, Conghui Liao, Cheng Guo, Qing He, Yajie Qiu, Huahua Lu, Yue Zhou, Jianrui Wei, Dandan Hu

“…Background: The influenza virus’s high mutation rate requires the annual reformulation and administration of the vaccine. …”
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ITGA4 as a potential prognostic and immunotherapeutic biomarker in human cancer and its clinical significance in gastric cancer: an integrated analysis and validation by Jiaxing Zhang, Jiaxing Zhang, Gang Wang, Jie Liu, Futian Tang, Song Wang, Yumin Li, Yumin Li

“…ITGA4 positively correlated with immune cell infiltration, immune regulatory genes, chemokines, and might reduce microsatellite instability (MSI) and tumor mutation burden (TMB) by promoting MMR gene expression. …”
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Vision Improvement after Osimertinib Treatment in Paraneoplastic Optic Neuropathy Associated with Lung Adenocarcinoma by Masaomi Kubota, Nobumasa Tamura, Takaaki Hayashi, Euido Nishijima, Haruhiko Yanagisawa, Akira Kojima, Tadashi Nakano

“…Because the tumor tissue was found to be positive for the EGFR T790M resistance mutation by bronchoscopy, the EGFR-TKI treatment was changed to osimertinib, decreasing the size of the lung cancer lesions. …”
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Multimodal Magnetic Resonance Findings in Parkinson’s Disease With “Antecedent Essential Tremor”: A Case Series of a Large Kindred by Kong Y, Yao L, Xiao X, Chen A, Wang K, Yan H, Sun R, Liu R, Kong Q

“…Fifteen of the 16 cases had missense mutation in the EIF4G1 gene. Temporal and spatial features of morphology and iron deposition in different brain regions were heterogeneous. …”
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Unleashing the potential of a low CpG Passer transposon for superior CAR-T cell therapy by Jianyao Zeng, Yan Sun, Yan Sun, Yuan Fang, Xiaodie Wang, Qian Huang, Pingjing Zhang, Meiqi Shao, Pei Wang, Jingbo Cheng, Meng Di, Tao Liu, Qijun Qian, Qijun Qian, Qijun Qian

“…Flow cytometry and luciferase reporter assays were employed for mutation screening. BALB/c mice and M-NSG mice were used to evaluate the inflammatory response and efficacy of LCG CAR-T in vivo, with TIL grouping detected via immunohistochemistry.ResultsIn this study, we modified the newly discovered Passer (JL) transposon to construct a low-CpG content transposon for CAR-T cell (LCG CAR-T cell) preparation. …”
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Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection by Li‐min Cui, Hua‐ying Hu, Xiao‐mei Zhai, Ming‐fei Qi, Yan‐ming Liu, Cong‐ying Han, Jing Zhang, Ming Shen, Yu‐lan Xiang, Wen‐qi Chen, Kai Yang, Dong‐liang Zhang, Huan‐xia Xing

“…Additionally, four novel SD‐related sequence mutations were detected in this study. Conclusion Our findings provide conclusive evidence for genetic counseling of corresponding families and expand the mutation spectrum of SD. …”
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