Identification of a novel SPTB gene splicing mutation in hereditary spherocytosis: a case report and diagnostic insights by Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Xiaobing Li, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Tingqiang Zhang, Xuemei Li, Li Wang, Li Wang, Li Wang, Li Wang, Qian Li, Qian Li, Qian Li, Qian Li, Qianqian Liu, Qianqian Liu, Qianqian Liu, Qianqian Liu, Chengyin He, Li Zhang, Li Zhang, Li Zhang, Li Zhang, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Yongsheng Liu, Junling Tang, Junling Tang, Junling Tang, Junling Tang

“…Genetic testing identified a novel SPTB gene splicing mutation (NM_001355436.2: c.1645-1G>A), inherited maternally, which is predicted to disrupt normal RNA splicing and protein synthesis.DiscussionThe identified SPTB mutation expands the known mutation spectrum of the SPTB gene and highlights its role in the pathogenesis of HS. Clinical findings, combined with genetic analysis, confirmed the diagnosis of HS and underscored the importance of comprehensive molecular testing for accurate diagnosis, especially in patients with a strong family history.ConclusionThis case emphasizes the utility of genetic testing in diagnosing hereditary spherocytosis, particularly for novel gene mutations. …”
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Model organisms for investigating the functional involvement of NRF2 in non-communicable diseases by Ana I. Rojo, Brigitta Buttari, Susana Cadenas, Ana Rita Carlos, Antonio Cuadrado, Ana Sofia Falcão, Manuela G. López, Milen I. Georgiev, Anna Grochot-Przeczek, Sentiljana Gumeni, José Jimenez-Villegas, Jarosław Olav Horbanczuk, Ozlen Konu, Isabel Lastres-Becker, Anna-Liisa Levonen, Viktorija Maksimova, Charalambos Michaeloudes, Liliya V. Mihaylova, Michel Edwar Mickael, Irina Milisav, Biljana Miova, Patricia Rada, Marlene Santos, Miguel C. Seabra, Dubravka Svob Strac, Sandra Tenreiro, Ioannis P. Trougakos, Albena T. Dinkova-Kostova

“…Research on model organisms has provided tremendous knowledge of the molecular mechanisms by which NRF2 affects NCDs pathogenesis. This review is a comprehensive summary of the most commonly used model organisms of NCDs in which NRF2 has been genetically or pharmacologically modulated, paving the way for drug development to combat NCDs. …”
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The functions of herpesvirus shuttling proteins in the virus lifecycle by Huijun Cao, Huijun Cao, Huijun Cao, Huijun Cao, Huijun Cao, Mingshu Wang, Mingshu Wang, Mingshu Wang, Mingshu Wang, Mingshu Wang, Anchun Cheng, Anchun Cheng, Anchun Cheng, Anchun Cheng, Anchun Cheng, Bin Tian, Bin Tian, Bin Tian, Bin Tian, Bin Tian, Qiao Yang, Qiao Yang, Qiao Yang, Qiao Yang, Qiao Yang, Xumin Ou, Xumin Ou, Xumin Ou, Xumin Ou, Xumin Ou, Di Sun, Di Sun, Di Sun, Di Sun, Di Sun, Yu He, Yu He, Yu He, Yu He, Yu He, Zhen Wu, Zhen Wu, Zhen Wu, Zhen Wu, Zhen Wu, Xinxin Zhao, Xinxin Zhao, Xinxin Zhao, Xinxin Zhao, Xinxin Zhao, Ying Wu, Ying Wu, Ying Wu, Ying Wu, Ying Wu, Shaqiu Zhang, Shaqiu Zhang, Shaqiu Zhang, Shaqiu Zhang, Shaqiu Zhang, Juan Huang, Juan Huang, Juan Huang, Juan Huang, Juan Huang, YanLing Yu, Ling Zhang, Shun Chen, Shun Chen, Shun Chen, Shun Chen, Shun Chen, Mafeng Liu, Mafeng Liu, Mafeng Liu, Mafeng Liu, Mafeng Liu, Dekang Zhu, Dekang Zhu, Dekang Zhu, Dekang Zhu, Renyong Jia, Renyong Jia, Renyong Jia, Renyong Jia, Renyong Jia

“…This article provides an overview of how shuttling proteins utilize nucleocytoplasmic shuttling signals and nuclear transport receptors for nucleocytoplasmic transport, as well as discusses how herpesvirus shuttling proteins enhance the effective infection of viruses by affecting their lifecycle and participating in innate immunity, this review provides a reference for understanding the pathogenesis of herpesvirus infection and determining new antiviral strategies.…”
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