A novel ubiquitination-related gene signature for overall survival prediction in patients with liver hepatocellular carcinoma by Xiuyun Chen, SenLin Li, Lixue Cao, Shaoxian Chen, Qiuxiong Lin, Shilong Zhong

“…The risk score was correlated with 35 transcription factors and 26 eRNA enhancers, and positively associated with tumor mutation burden. Patients in the high-risk group demonstrated decreased sensitivity to targeted and chemotherapeutic drugs than those in the low-risk group. …”
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Identification of m6A methyltransferase-related WTAP and ZC3H13 predicts immune infiltrates in glioblastoma by Liyun Gao, Jiaxin Gao, Jiayin He, Wenyan Fan, Xiangxin Che, Xin Wang, Tao Wang, Chunhua Han

“…Functional disparities were determined through gene set enrichment analysis (GSEA). Tumor mutation burden (TMB) and immune checkpoint inhibitors (ICIs) were also analyzed. …”
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The composition of peripheral immunocompetent cell subpopulations and cytokine content in the brain structures of mutant Disc1-Q31L mice by M. M. Gevorgyan, S. Ya. Zhanaeva, E. L. Alperina, T. V. Lipina, G. V. Idova

“…This is the first study to examine the immune parameters in Disc1-Q31L mice with a point mutation in the second exon of the DISC1 gene compared to mice of the C57BL/6NCrl strain (WT, wild type). …”
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BRAF regulates circPSD3/miR-526b/RAP2A axis to hinder papillary thyroid carcinoma progression by Chuang Li, Xiaojuan Zhao, Jingge Zhao, Jing Zhao, Lemei An, Gang Wu

“…Abstract Background Papillary thyroid carcinoma (PTC) is a common malignant tumor. BRAFV600E mutation has become a common molecular event in PTC pathogenesis. …”
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Genesis of feudalism in Western Europe and its influence to the globai process of history: The conceptions of L. Vasilyev and E. Gudavičius by Nerijus Babinskas

“…Already, during the stage of the genesis of feudalism, a social mutation (i.e. qualitative change) took place in Western Europe. …”
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Transcript Profiles of Stria Vascularis in Models of Waardenburg Syndrome by Linjun Chen, Lin Wang, Lei Chen, Fangyuan Wang, Fei Ji, Wei Sun, Hui Zhao, Weiju Han, Shiming Yang

“…Therefore, GO analysis was performed to identify the differential gene expression caused by Mitf-M mutation. Results. There were 113 genes in tyrosine metabolism, melanin formation, and ion transportations showed significant changes in pig models and 191 genes in mice models. …”
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A Bibliometric Analysis of Medullary Thyroid Carcinoma From 2000 to 2022 by TAN Meijuan, YANG Shijie, XU Xiequn

“…The key areas of focus in highly cited literature were RET proto oncogene, targeted therapy, RET gene mutation, and so on.ConclusionsIn the past 20 years, MTC related research has shown a gradual upward trend, with developed countries led by the United States taking a leading position in this field. …”
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Effects of removing reimbursement restrictions on targeted therapy accessibility for non-small cell lung cancer treatment in Taiwan: an interrupted time series study by Jason C Hsu, Chen-Fang Wei, Szu-Chun Yang

“…Gefitinib was initially approved and reimbursed as a third-line therapy for patients with advanced NSCLC by the Taiwan National Health Insurance (NHI) in 2004; subsequently it became a second-line therapy (in 2007) and further a first-line therapy (in 2011) for patients with epidermal growth factor receptor mutation-positive advanced NSCLC. Another targeted therapy, erlotinib, was initially approved as a third-line therapy in 2007, and it became a second-line therapy in 2008.Objectives This study is aimed towards an exploration of the impacts of the Taiwan NHI reimbursement policies (removing reimbursement restrictions) related to accessibility of targeted therapies.Setting We retrieved 2004–2013 claims data for all patients with lung cancer diagnoses from the NHI Research Database.Design and outcome measures Using an interrupted time series design and segmented regression, we estimated changes in the monthly prescribing rate by patient number and market shares by cost following each modification of the reimbursement policy for gefitinib and erlotinib for NSCLC treatment.Results Totally 92 220 patients with NSCLC were identified. …”
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Phytoalexin deficient 4 is associated with the lesion mimic trait in watermelon clalm mutant (Citrullus lanatus) by Jiale Shi, Congji Yang, Yuanyuan Qin, Qingqing Liu, Shengqi Hua, Defeng Wu, Wei Dong

“…There are 6 genes with non-synonymous mutation SNP sites. The predicted target gene, ClCG04G001930, encodes a Phytoalexin deficient 4 (PAD4), a protein that plays an important regulatory role in leaf senescence in many plant species. …”
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CMACGSA: Improved Gravitational Search Algorithm Based on Cerebellar Model Articulation Controller for Optimization by Nazmiye Ebru Bulut, Emre Dandil, Ugur Yuzgec, Alpaslan Duysak

“…Additional enhancements include Lévy mutation, boundary control methods and an error handling mechanism, which together improve the robustness and adaptability of the algorithm. …”
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Engineering of Dihydroxy Biphenyl Dioxygenase Enzyme to Improve Its Performance In Removing PCBs: A Molecular Docking Study by Susan Yazdankhah, Alireza Zakeri, Saeed Khalili, Abolfazl Jahangiri, ZahraalSadat Hashemi, Alireza Heidari

“…Conclusion: The more negative binding energy indicates the greater stability of this interaction in the mutant enzyme. As a result, these mutations will be able to improve the strength of the enzyme function. …”
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Impaired Growth during Childhood in Patients with Primary Ciliary Dyskinesia by Tamara Svobodová, Jana Djakow, Daniela Zemková, Adam Cipra, Petr Pohunek, Jan Lebl

“…The growth deterioration was not dependent on sex or disease severity but was more pronounced in DNAH5 or DNAI1 mutation carriers. BMI did not differ from population standards, which suggests that nutritional deficits are not the cause of growth delay. …”
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Evaluating the role of selection in the evolution of mitochondrial genomes of aboriginal peoples of Siberia by B. A. Malyarchuk, M. V. Derenko

“…Studies of the nature of mitochondrial DNA (mtDNA) variability in human populations have shown that protein­coding genes are under negative (purifying) selection, since their mutation spectra are characterized by a pro­ nounced predominance of synonymous substitutions over non­synonymous ones (Ka/Ks < 1). …”
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Intratumor heterogeneity of HPV integration in HPV-associated head and neck cancer by Noah Sasa, Toshihiro Kishikawa, Masashi Mori, Rie Ito, Yumie Mizoro, Masami Suzuki, Hirotaka Eguchi, Hidenori Tanaka, Takahito Fukusumi, Motoyuki Suzuki, Yukinori Takenaka, Keisuke Nimura, Yukinori Okada, Hidenori Inohara

“…HPV+ HNSCCs exhibited almost no smoking-induced mutational signatures. Heterozygous loss of ataxia-telangiectasia mutated (ATM) was observed in 67% of tumors, with its downregulation confirmed by single-cell RNA sequencing and immunohistochemistry, suggesting ATM haploinsufficiency contributes to carcinogenesis. …”
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Methylenetetrahydrofolate reductase gene polymorphisms, lipid profiles, and basic renal functional markers as risk for myocardial infarction: A case-control study and haplotype ana... by Perović Svetlana, Vujović Slavica, Kapur-Pojskić Lejla, Garai Nemanja, Šćepanović Anđelka

“…In the study, 120 patients with MI and 120 age-and-sex-matched controls were genotyped for C677T and A1298C MTHFR polymorphisms by the allele-specific or amplification refractory mutation system-polymerase chain reaction (ARMS-PCR). …”
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Radiation-induced impacts on mitochondrial DNA and the transgenerational genomic instability by Ryosuke Seino, Haruka Kubo, Kai Nishikubo, Hisanori Fukunaga

“…Background: Mitochondrial genomes are dynamically evolving and are shaped by somatic mutation and selection throughout the female germline. …”
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Tetracycline and chloramphenicol exposure induce decreased susceptibility to tigecycline and genetic alterations in AcrAB-TolC efflux pump regulators in Escherichia coli and Klebsi... by Nian Anwar Nasralddin, Mehri Haeili, Sasan Karimzadeh, Fatemeh Alsahlani

“…About 58% of variants (n = 7) carried genetic alterations in AcrAB regulators including ramR (frameshift mutations/locus deletion), MarR (L33R, A70T, G15S amino acid substitutions) and Lon (L630F change, frameshift mutation) which were associated with acrB upregulation. …”
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Central Serous Chorioretinopathy Associated with Corticosteroid Use in a Patient with Leber Hereditary Optic Neuropathy: A Case Report by Lepsa Zoric, Aleksandra Petrovic, Vladimir Milutinovic

“…Subsequent laboratory results revealed a positive test for the LHON mutation m.3460 G>A (MT-ND1). <i>Conclusions</i>. LHON is often misdiagnosed as optic neuritis, as upon initial presentation the optic nerve disk often does not exhibit the apparent characteristics of LHON. …”
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CLOVES Syndrome: A Review of Clinical, Genetic, and Therapeutic Aspects by Julianna Podolec, Silvia Ciraolo, Joanna Wojda, Adam Sobiński, Zuzanna Kościuszko, Katarzyna Kurza, Agnieszka Kulczycka-Rowicka, Matylda Czerwonka, Katarzyna Lesiczka-Fedoryj, Anna Walczak

“…It focuses on the role of PIK3CA gene mutations, challenges in diagnosis, and treatment options, including PI3K/AKT/mTOR pathway inhibitors. …”
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Clinical phenotype and trio whole exome sequencing data from a patient with glycogen storage disease IV in Indonesia(NCBI) by Ivan William Harsono, Yulia Ariani, Beben Benyamin, Fadilah Fadilah, Dwi Ari Pujianto, Cut Nurul Hafifah, Titis Prawitasari

“…The non-specific clinical finding (phenotype) and identification of novel mutation adds the complexity of diagnosing and confirming rare disease. …”
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