TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report by Ge Yu, Guijie Xin, Xu Liu, Wanyu Li, Chen Shao, Runping Gao

“…TERT plays an important role in telomeric DNA repair and replication. A TERT c.2286 + 1G/A mutation in a splicing consensus site was identified in a patient with pulmonary fibrosis. …”
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Comparative transcriptomics and metabolomics provide insight into degeneration‐related physiological mechanisms of Morchella importuna after long‐term preservation by Ying Chen, Xuelian Cao, Liyuan Xie, Jie Tang, Lixu Liu, Di Wang, Xiang Wu, Tianhai Liu, Yang Yu, Yong Wang, Francis Martin, Weihong Peng, Hao Tan

“…Altogether, metabolic alterations related to sulfur‐containing amino‐acid biosynthesis, DNA repair, and cellular structural maintenance contributed to improved preservation outcomes in terms of morel fruiting capability. …”
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Efficient Dual Cas9 Nickase Correction of a Prevalent Pathogenic LAMB3 Variant for Junctional Epidermolysis Bullosa by Alex du Rand, John Hunt, Daniel Verdon, Ben Buttle, P. Rod Dunbar, Diana Purvis, Vaughan Feisst, Hilary Sheppard

“…Using a high-fidelity Cas9 nuclease, we also report perfect repair of up to 74% when using a small-molecule modulator of DNA repair. Dual-Cas9n–corrected JEB keratinocytes demonstrated restored laminin-332 expression and secretion in vitro, leading to improved cellular adhesion and accurate laminin-332 localization in engineered skin equivalents. …”
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Whole exome sequencing-based homologous recombination deficiency test for epithelial ovarian cancer by Ying-Cheng Chiang, Hsien-Neng Huang, Kuan-Ting Kuo, Wuh-Liang Hwu, Po-Han Lin

“…Nine patients had mutations in the genes involved in HR DNA repair, and all of them were positive for HRD. In the validation group, 23 patients were defined as positive HRD by WES-based testing. …”
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NKX6.3 modulation of mitotic dynamics and genomic stability in gastric carcinogenesis by Jung Hwan Yoon, Jeong-Kyu Kim, Jung Woo Eun, Hassan Ashktorab, Duane T. Smoot, Suk Woo Nam, Won Sang Park

“…Furthermore, the loss of NKX6.3 resulted in altered expression of key regulatory proteins involved in mitosis and DNA repair pathways, suggesting a mechanistic link between NKX6.3 and the maintenance of genomic stability in gastric epithelial cells. …”
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Transcriptomic and proteomic profiling identifies feline fibrosarcoma as clinically amenable model for aggressive sarcoma subtypes by Mikiyo Weber, Daniel Fuchs, Amiskwia Pöschel, Erin Beebe, Zuzana Garajova, Armin Jarosch, Laura Kunz, Witold Wolski, Lennart Opitz, Franco Guscetti, Mirja C. Nolff, Enni Markkanen

“…Significant enrichment in DNA repair pathways in feline FSA correlate with aggressive clinical behavior in human soft-tissue sarcoma. …”
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DNA Damage Sensor γ-H2AX Is Increased in Preneoplastic Lesions of Hepatocellular Carcinoma by Yasunobu Matsuda, Toshifumi Wakai, Masayuki Kubota, Mami Osawa, Masaaki Takamura, Satoshi Yamagiwa, Yutaka Aoyagi, Ayumi Sanpei, Shun Fujimaki

“…Phosphorylated histone H2AX (γ-H2AX) is a potential regulator of DNA repair and is a useful tool for detecting DNA damage. …”
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Comparative Genomics Analysis of Plasmid pPV989-94 from a Clinical Isolate of Pantoea vagans PV989 by Lei Xu, Min Yin, Tingyuan Zhu, Yabo Liu, Yuanyuan Ying, Junwan Lu, Chaoqing Lin, Jianchao Ying, Teng Xu, Liyan Ni, Qiyu Bao, Shunfei Lu

“…Interestingly, a fragment (R4′) in R4, mediated by phage integrase and phage integrase family site-specific recombinase and encoding 9 genes related to glycometabolism, resistance, and DNA repair, was unique in pPV989-94. Homologues of R4′ were found in other plasmids or chromosomes, suggesting that horizontal gene transfer (HGT) occurred among different bacteria of various species or genera. …”
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Cooperative mechanisms of LexA and HtpG in the regulation of virulence gene expression in Pseudomonas plecoglossicida by Rongchao He, Yanfei Zuo, Qiu Li, Qingpi Yan, Lixing Huang

“…LexA is a well-known transcriptional repressor of DNA repair genes induced by DNA damage in Escherichia coli and other bacterial species. …”
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Computational insights into Sitahe (Leuconotis eugenifolia) bioactive compounds: A promising approach for radioprotection through p53 inhibition by Dian Pribadi Perkasa, Iin Kurnia, Taufik Muhammad Fakih, Teja Kisnanto, Dwi Ramadhani, Harry Nugroho Eko Surniyantoro, Boky Jeanne Tuasikal, Alfian Mahardika Forentin, Mukh Syaifudin

“…In this study, in silico docking simulations were conducted to systematically assess the ability of key phytochemicals from Sitahe to modulate p53 activity, a critical gene in DNA repair and cancer therapy. SwissADME analysis revealed favorable physicochemical properties for compounds such as baurenol, alpha amyrin, and beta amyrin, although high lipophilicity may pose challenges for bioavailability. …”
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Evaluating H2BC9 as a potential diagnostic and prognostic biomarker in head and neck squamous cell carcinoma by Lanhua Wu, Liang Li, Mingjing Zhu, Ziyan Zhou, Xuejin Su, Yueming Jiang, Min Kang, Li Jiang

“…H2B clustered histone 9 (H2BC9), a member of the H2B family, plays critical roles in gene expression regulation, chromosome structure, DNA repair stability, and cell cycle regulation. However, the diagnostic and prognostic value of H2BC9 in head and neck squamous cell carcinoma (HNSCC) remains unclear. …”
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SLC22A1 rs622342 Polymorphism Predicts Insulin Resistance Improvement in Patients with Type 2 Diabetes Mellitus Treated with Metformin: A Cross-Sectional Study by Kunrong Wu, Xiaoli Li, Yuedong Xu, Xiaoqian Zhang, Ziwan Guan, Shufang Zhang, Yan Li

“…Organic cation transporter 1 (encoded by SLC22A1) is responsible for the transport of metformin, and ataxia-telangiectasia-mutated (ATM) is a gene relating to the DNA repair and cell cycle control. The aim of this study was to evaluate if the genetic variants in SLC22A1 rs622342 and ATM rs11212617 could be effective predictors of islet function improvement in patients with type 2 diabetes mellitus (T2DM) on metformin treatment. …”
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SETD2 loss-of-function uniquely sensitizes cells to epigenetic targeting of NSD1-directed H3K36 methylation by Ryan T. Wagner, Ryan A. Hlady, Xiaoyu Pan, Liguo Wang, Sungho Kim, Xia Zhao, Louis Y. El Khoury, Shafiq Shaikh, Jian Zhong, Jeong-Heon Lee, Jolanta Grembecka, Tomasz Cierpicki, Thai H. Ho, Keith D. Robertson

“…Its role in regulating cellular processes such as RNA splicing, DNA repair, and spurious transcription initiation underlies its broader tumor suppressor function. …”
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In Vitro Expansion of Bone Marrow Derived Mesenchymal Stem Cells Alters DNA Double Strand Break Repair of Etoposide Induced DNA Damage by Ian Hare, Marieta Gencheva, Rebecca Evans, James Fortney, Debbie Piktel, Jeffrey A. Vos, David Howell, Laura F. Gibson

“…To investigate the response to DSB stress with passage in vitro, primary human MSCs were exposed to etoposide (VP16) at various passages with subsequent evaluation of cellular damage responses and DNA repair. Passage number did not affect susceptibility to VP16 or the incidence and repair kinetics of DSBs. …”
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From bench to bedside: elucidating VEGF(R) inhibitor-related heart failure in cancer treatment by Shengkun Peng, MinHong Cai, Hongyu Kuang, Anqi Lin, Qinghua Ma, Xiaoqin Dai, Peng Luo, Yijun Liu, Guo Zhang, Yifeng Bai

“…Transcriptomic analysis identified significant dysregulation of multiple key signaling pathways, including DNA repair (R = 0.46), mitochondrial ATP synthesis (R = 0.39), glycogen metabolism regulation (R = 0.45), and proteasome-mediated protein degradation (R = 0.45). …”
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Myristoylated Eepd1 Enhances Lipolysis and Thermogenesis through PKA Activation to Combat Obesity by Suzhen Chen, Yanping Wang, Qian Zhou, Qiqi Qian, Quanxin Jiang, Chuchu Liu, Yan Liu, Peihui Zhou, Jie Xiong, Yao Zhang, Ning Wang, Yang Emma Li, Limin Yin, Hongyuan Yang, Junli Liu

“…Here, we explore the role of Eepd1, a DNA repair enzyme, in regulating adipose tissue function and obesity onset. …”
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Deficiency of ATF3 facilitates both angiotensin II‐induced and spontaneously formed aortic aneurysm and dissection development by activating cGAS–STING pathway by Yifan Du, Poyi Hu, Xiangchao Ding, Dashuai Wang, Jingjing Luo, Sheng Le, Lingyun Ren, Manhua Chen, Ping Ye, Jiahong Xia

“…Mechanistically, ATF3 deficiency led to the degradation of P21 through ubiquitination. Impaired DNA repair in VSMCs resulted in micronuclei formation in the cytoplasm, activating the  cyclicGMP‐AMP synthase‐ stimulator of interferon genes (cGAS–STING) pathway and inducing VSMC phenotypic switching and apoptosis. …”
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Upregulated SAE1 Drives Tumorigenesis and Is Associated with Poor Clinical Outcomes in Breast Cancer by Hong Liu, Jing Wang, Yunhai Li, Feng Luo, Lei Xing

“…The result of GSEA showed that SAE1 was significantly associated with 12 gene sets, including unfolded protein reaction, DNA repair, oxidative phosphorylation, and cell cycle, among others. …”
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P53 and Expression of Immunological Markers May Identify Early Stage Thyroid Tumors by Marjory Alana Marcello, Elaine Cristina Morari, Lucas Leite Cunha, Aline Carolina De Nadai Silva, Dirce Maria Carraro, André Lopes Carvalho, Fernando Augusto Soares, José Vassallo, Laura Sterian Ward

“…Besides its major role in cell proliferation, DNA repair, and apoptosis, functional p53 protein is involved in the induction of antitumor cytotoxic-T-cell activity against carcinoma cells. …”
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Identification of MORF4L1 as an endogenous substrate of CRBN and its potential role as a therapeutic target in cancer by Luyao Zhang, Shunfang Liu, Jingliang He, Zhongke Hu, Lan Zhu, Hongyi Huang, Qi Gao, Dan Wang, Lu Chen, Xingyu Zhang, Ruotong Liu, Jiayun Wang, Yizhuo Song, Kaile Zeng, Xiuming Li, Yulu Chen, Xun Zou, Shaojie Ma, Xiujun Wang, Guofeng Xu, Wei Liu, Bin Liu

“…Abstract The ubiquitin-proteasome system (UPS) is essential for cellular homeostasis, regulating the degradation of proteins involved in key processes such as cell cycle, apoptosis, and DNA repair. Dysregulation of the UPS is implicated in hepatocellular carcinoma (HCC), contributing to tumor progression and therapeutic resistance. …”
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