Dysregulation of the NLRP3 Inflammasome and Promotion of Disease by IL-1β in a Murine Model of Sandhoff Disease by Nick Platt, Dawn Shepherd, David A. Smith, Claire Smith, Kerri-Lee Wallom, Raashid Luqmani, Grant C. Churchill, Antony Galione, Frances M. Platt

“…Sandhoff disease (SD) is a progressive neurodegenerative lysosomal storage disorder characterized by GM2 ganglioside accumulation as a result of mutations in the <i>HEXB</i> gene, which encodes the β-subunit of the enzyme β-hexosaminidase. …”
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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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Molecular dependencies and genomic consequences of a global DNA damage tolerance defect by Daniel de Groot, Aldo Spanjaard, Ronak Shah, Maaike Kreft, Ben Morris, Cor Lieftink, Joyce J. I. Catsman, Shirley Ormel, Matilda Ayidah, Bas Pilzecker, Olimpia Alessandra Buoninfante, Paul C. M. van den Berk, Roderick L. Beijersbergen, Heinz Jacobs

“…Conclusions Our data highlight the essential contribution of the DDT system to genome maintenance and type 3 deletions as mutational signature of replication stress. The unique characteristics of type 3 deletions implicate the existence of a novel deletion pathway in mice and humans that is counteracted by DDT. …”
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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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Integrated singlecell and bulk RNA-seq analysis identifies a prognostic signature related to inflammation in colorectal cancer by Wen Yin, Yanting Ao, Qian Jia, Chao Zhang, Liping Yuan, Sha Liu, Wanmeng Xiao, Gang Luo, Xiaomin Shi, Chen Xin, Maolin Chen, Muhan Lü, Zehui Yu

“…Patients in the high-risk group had worse survival with reduced immune cell infiltration and a greater tumor mutational load. The risk score correlated strongly with the immune checkpoints PD1, PDL1, PDL2, and CTLA4, and it is possible that high-risk patients are more sensitive to treatment involving immune checkpoints. …”
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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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Geographical distribution and evolutionary dynamics of H4Nx avian influenza viruses by Ye Ge, Jing Liu, Yuanguo Li, Peng Peng, Yan Zhou, Jiantao Yu, Miaotong Huo, Xiaodong Liang, Yuwei Gao, Qiucheng Yao

“…Molecular characterization revealed that all viruses in this study were less pathogenic but had potential mammalian-adapted mutations. The transmission dynamics of H4Nx AIVs revealed that Europe and Asia, especially the Netherlands and Bangladesh, may be the centers of transmission. …”
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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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Genotoxic and Mutagenic Assessment Induced by Vinasse, Before and After Being Subjected to Bio-oxidation and Fenton Processes. by Iván Meléndez Gélvez, Diego Alberto Salazar Moncada, Elkín Johan Granados Vega, Jennifer Carolina Soledad Maldonado, Carlos Alberto Peláez Jaramillo

“…However, no mutagenic activity was observed in any of the Salmonella strains evaluated, indicating that vinasse does not induce mutations. Conclusion: The importance of addressing vinasse pollution and treatment methods to reduce its toxicity is emphasised. …”
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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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A systemic analysis of Creutzfeldt Jakob disease cases in Asia by Urwah Rasheed, Sana Khan, Minahil Khalid, Aneeqa Noor, Saima Zafar

“…Sporadic CJD, which occurs for reasons unbeknown to science (85% of known cases), Genetic or Familial CJD which is characterized by the presence of mutations in the human prion protein (PRNP) gene (10–15% cases) and Iatrogenic CJD that occurs via accidental transmission through medical and surgical procedures (1–2% cases). …”
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Progress in the Management of Retinal Detachment Associated With Morning Glory Syndrome by Wu S, Wang W, Liu L, Wang W, Jiang K, Peng C, Sun H, Zhang J

“…The etiology of MGS is not fully understood but has been associated with genetic factors, particularly mutations in the PAX6 and PAX2 genes, which play critical roles in eye development. …”
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