Targeting protein kinase C-α prolongs survival and restores liver function in sepsis: Evidence from preclinical models by Ling Xiong, Dustin Beyer, Na Liu, Tina Lehmann, Sophie Neugebauer, Sascha Schaeuble, Oliver Sommerfeld, Philipp Ernst, Carl-Magnus Svensson, Sandor Nietzsche, Sebastian Scholl, Tony Bruns, Nikolaus Gaßler, Markus H. Gräler, Marc Thilo Figge, Gianni Panagiotou, Michael Bauer, Adrian T. Press

“…Midostaurin is the clinically approved active pharmaceutical ingredient in Rydapt, approved for the adjuvant treatment of FTL3-mutated AML. Here, it reduced plasma bile acids and related inflammation in those patients, opening a translational avenue for therapeutics in sepsis. …”
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Advanced progress in the genetic modification of the oncolytic HSV-1 virus by Mi Zhou, Mi Zhou, Mi Zhou, Zhenyu Shen, Zhenyu Shen, Zhenyu Shen

“…Importantly, HSV-1 does not integrate into the host genome and cause mutations. The HSV-1 genome can be modified through genetic engineering in two main ways: first, by reducing infectivity and toxicity to normal cells via limited replication and assembly, altered protein-virus receptor binding, and minimized immune evasion; second, by enhancing anticancer activity through disruption of tumor cell metabolism, induction of autophagy, improved immune recognition, and modification of the tumor microenvironment. …”
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Multi-omic and machine learning analysis of mitochondrial RNA modification genes in lung adenocarcinoma for prognostic and therapeutic implications by Xiao Zhang, Jiatao Liu, Yaolin Cao, Wei Wang, Haoran Lin, Yue Yu

“…Our findings uniquely link MRMS to increased tumor mutational burden, genetic instability, and an immunosuppressive tumor microenvironment characterized by reduced immune cell infiltration and elevated tumor purity. …”
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Switching to Dolutegravir/lamivudine or Bictegravir/Emtricitabine/Tenofovir alafenamide. A comparative real-world study by Hernando Knobel, Esperanza Cañas-Ruano, Ana Guelar, Pablo Knobel, Judit Villar-García, Alicia González-Mena, Ceclia Canepa, Itziar Arrieta-Aldea, Augustin Marcos, Agustí Abalat-Torrres, Roberto Güerri-Fernández

“…Notably, one patient in D/L group with severe non-adherence and virologic failure developed resistance mutations. Conclusions Switching to either B/T/F or D/L treatment for PLWH was effective and well tolerated in this real-world study. …”
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Development of new powdery mildew resistant lines in garden pea (Pisum sativum L.) using induced mutagenesis and validation of resistance for the er1 and er2 gene through molecular... by Akhilesh Sharma, Devinder Kumar Banyal, Vinod Janardan Dhole, Bansuli, Ranbir Singh Rana, Rajesh Kumar, Prabhat Kumar, Nimit Kumar, Srishti, Arshia Prashar, Vivek Singh, Anoushka Sharma

“…The efforts were made to develop PM-resistant mutants of popular pea varieties “Lincoln” and “Azad P-1” through induced mutations by following gamma irradiation (300, 400, 500, and 600 Gy) and chemical mutagenesis, i.e., ethyl methane sulfonate (EMS) (0.3% and 0.4%). …”
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Inhibition of NLRP3 enhances pro-apoptotic effects of FLT3 inhibition in AML by Helene Sieberer, Michela Luciano, Diana Amend, Constantin Blöchl, Anna Eglseer, Alina Steinkellner, Sebastian Rieser, Ancuela Andosch, Philip Steiner, Laura Hummer, Peter W. Krenn, Hieu-Hoa Dang, Christian G. Huber, Fritz Aberger, Theresa Neuper, Jutta Horejs-Hoeck

“…Abstract FLT3 mutations occur in approximately 25% of all acute myeloid leukemia (AML) patients. …”
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Influence of human peripheral blood samples preprocessing on the quality of Hi-C libraries by M. M. Gridina, E. Vesna, M. E. Minzhenkova, N. V. Shilova, O. P. Ryzhkova, L. P. Nazarenko, E. O. Belyaeva, I. N. Lebedev, V. S. Fishman

“…Modern high-throughput methods of genome analysis can effectively reveal point mutations and unbalanced chromosomal rearrangements. …”
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Structural insights into dynamics of the BMV TLS aminoacylation by Wen Yang, Ran Yi, Jing Yao, Yongxiang Gao, Shanshan Li, Qingguo Gong, Kaiming Zhang

“…Enzymatic assays further demonstrated the functional importance of TLS-TyrRS interactions, with mutations in key residues significantly impacting aminoacylation efficiency. …”
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Accelerated and precise skin cancer detection through an enhanced machine learning pipeline for improved diagnostic accuracy by SM Masfequier Rahman Swapno, S.M. Nuruzzaman Nobel, P.K. Meena, V.P. Meena, Jitendra Bahadur, Abhishek Appaji

“…Unrepaired DNA damage in skin cells causes mutations leading to skin cancer, a highly aggressive malignancy. …”
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Increased DNA Copy Number Variation Mosaicism in Elderly Human Brain by Darine Villela, Claudia K. Suemoto, Renata Leite, Carlos Augusto Pasqualucci, Lea T. Grinberg, Peter Pearson, Carla Rosenberg

“…Nearly all evidence of genome structural variation in human brains comes from studies detecting changes in single cells which were interpreted as derived from independent, isolated mutational events. The observations based on array-CGH analysis indicate the existence of an extensive clonal mosaicism of CNVs within and between the human brains revealing a different type of variation that had not been previously characterized.…”
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Heterologous vaccination with subunit protein vaccine induces a superior neutralizing capacity against BA.4/5‐included SARS‐CoV‐2 variants than homologous vaccination of mRNA vacci... by Dandan Peng, Tingmei Zhao, Weiqi Hong, Minyang Fu, Cai He, Li Chen, Wenyan Ren, Hong Lei, Jingyun Yang, Aqu Alu, Yanghong Ni, Jian Liu, Jiong Li, Wei Wang, Guobo Shen, Zhiwei Zhao, Li Yang, Jinliang Yang, Zhenling Wang, Yoshimasa Tanaka, Guangwen Lu, Xiangrong Song, Xiawei Wei

“…Abstract BA.4 and BA.5 (BA.4/5), the subvariants of Omicron, are more transmissible than BA.1 with more robust immune evasion capability because of its unique spike protein mutations. In light of such situation, the vaccination against severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2) is in desperate need of the third booster. …”
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Association of ATM Gene Polymorphism with PTC Metastasis in Female Patients by Yulu Gu, Xiaoli Liu, Yaqin Yu, Jieping Shi, Lizhe Ai, Hui Sun, Joseph Sam Kanu, Chong Wang, Yawen Liu

“…Ataxia telangiectasia mutated (ATM) gene is critical in the process of recognizing and repairing DNA lesions and is related to invasion and metastasis of malignancy. …”
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Echocardiographic Features of Cardiomyopathy in Emery-Dreifuss Muscular Dystrophy by Michał Marchel, Agnieszka Madej-Pilarczyk, Agata Tymińska, Roman Steckiewicz, Janusz Kochanowski, Julia Wysińska, Ewa Ostrowska, Paweł Balsam, Marcin Grabowski, Grzegorz Opolski

“…Two most common genetic subtypes are EDMD1 due to EMD and EDMD2 caused by LMNA gene mutations. The aim of the study was to characterize and compare the cardiac morphology and function in the two main genetic subgroups of EDMD with the use of echocardiography. …”
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Do wolframin, P-glycoprotein, and GRP78/BiP cooperate to alter the response of L1210 cells to endoplasmic reticulum stress or drug sensitivity? by Simona Kurekova, Lucia Pavlikova, Mario Seres, Viera Bohacova, Jana Spaldova, Albert Breier, Zdena Sulova

“…Wolframin is an ER transmembrane protein, product of the WFS1 gene whose mutations are associated with Wolfram syndrome. However, this protein is frequently overexpressed in cells undergoing ERS and its expression may accompany changes in the above ERS markers. …”
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Sustained immunogenicity of bivalent protein COVID-19 vaccine SCTV01C against antigen matched and mismatched variants by Guiqiang Wang, Kexin Zhao, Xiuli Zhao, Yimin Cui, Peng He, Tianzuo Zhang, Yanchao Wang, Rui Shi, Yanhua Li, Qian Wang, Yanping Ren, Zhisong Chen, Xuedan Zhao, Zekang Xie, Yufei Liang, Qingyun Tian, Jing Pan, Chao Zhang, Ying Han, Yuyang Dai, Siyang Ni, Yun Zhang, Xinjie Yang, Yongpan Fu, Dongfang Liu, Jing Li, Miaomiao Zhang, Zhongyu Hu, Liangzhi Xie

“…Background The development of bivalent or multivalent vaccines offers a promising strategy for combating SARS-CoV-2 mutations.Research design and methods In this phase 2 trial, conducted from 1 December 2021, to 25 July 2023, 392 unvaccinated adults aged ≥18 years were randomized to receive a primary series of two doses and a booster dose of SCTV01C, a bivalent protein SARS-CoV-2 vaccine.Results Geometric mean titers (GMTs) of neutralizing antibodies (nAb) against live Alpha, Beta, Delta, and Omicron showed 85.4-, 100.0-, 32.1-, and 9.8-fold increase from baseline on 28 days, and 49.4-, 55.3-, 5.7-fold increase against live Alpha, Beta, and Omicron on 90 days after primary series. …”
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Application of copy number variation sequencing combined with whole exome sequencing in prenatal left–right asymmetry disorders by Yu Qin, Muon Senglong, Koksear Touch, Juan Xiao, Ruijie Fang, Qingling kang, Lei Fan, Shufang Li, Jing Liu, Jianli Wu, Yuanyuan Wu, Xinwei Shi, Haiyi Liu, Xun Gong, Xingguang Lin, Ling Feng, Suhua Chen, Wei Li

“…Conclusion The study highlights that fetuses with LR asymmetric disorders may have copy number variants, underscoring the significance of mutations in LRRC56 and FOXJ1 in the development of LR asymmetry disorders.…”
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The use of molecular-genetic and phytopathological methods to identify genes for effective leaf rust resistance in Aegilops accessions by L. G. Tyryshkin, M. A. Kolesova

“…From a theoretical viewpoint, the presence of a certain amplification fragment can hardly be interpreted as a definite proof of the presence of a resistance gene: during the species evolution, recombinations and mutations could occur, resulting in disturbance of the fragment’s presence and phenotypic expression of its connection with resistance. …”
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Prevalence of the polymorphic H-ficolin (FCN3) genes and mannosebinding lectin-associated serine protease-2 (MASP2) in indigenous populations from the Russian Arctic regions by M. V. Smolnikova, S. Yu. Tereshchenko

“…Lectins, being the main proteins of the lectin pathway activating the complement system, are encoded by polymorphic genes, wherein point mutations cause the protein conformation and expression to change, which turns out to have an effect on the functionality and ability to respond to the pathogen. …”
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Different functions of PHF10 isoforms – subunits of the PBAF chromatin remodeling complex by A. A. Sheynov, V. V. Tatarskiy, A. M. Azieva, S. G. Georgieva, N. V. Soshnikova

“…Chromatin remodelling multiprotein complexes play an important role in regulation of gene expression in embryogenesis and in the adult organism. Mutations in the subunits of the complexes are often lethal or lead to developmental defects. …”
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Shared genetics between breast cancer and predisposing diseases identifies novel breast cancer treatment candidates by Panagiotis N. Lalagkas, Rachel D. Melamed

“…Results We identify 84 loci harboring mutations with positively correlated effects between breast cancer and its predisposing diseases; these contain 194 identified shared genes. …”
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