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  1. 2701

    Discovery and Evaluation of Polymorphisms in the and Promoter Regions for Risk of Korean Lung Cancer by Jae Sook Sung, Kyong Hwa Park, Seung Tae Kim, Yeul Hong Kim

    Published 2012-09-01
    “…We first discovered 2 novel polymorphisms (AKT2 -9826 C/G and AKT3 -811 A/G), and we confirmed 6 known polymorphisms (AKT2 -9473 C/T, AKT2 -9151 C/T, AKT2 -9025 C/T, AKT2 -8618G/A, AKT3 -675 A/-, and AKT3 -244 C/T) of the AKT2 and AKT3 promoter region in 24 blood samples of Korean lung cancer patients using direct sequencing. To evaluate the role of AKT2 and AKT3 polymorphisms in the risk of Korean lung cancer, genotypes of the AKT2 and AKT3 polymorphisms (AKT2 -9826 C/G, AKT2 -9473 C/T, AKT2 -9151 C/T, AKT2 -9025 C/T, AKT2 -8618G/A, and AKT3 -675 A/-) were determined in 360 lung cancer patients and 360 normal controls. …”
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  2. 2702

    Identification of Novel GCK and HNF4α Gene Variants in Japanese Pediatric Patients with Onset of Diabetes before 17 Years of Age by Rumi Katashima, Mari Matsumoto, Yuka Watanabe, Maki Moritani, Ichiro Yokota

    Published 2021-01-01
    “…Genetic screening for MODY1 (HNF4α), MODY2 (GCK), MODY3 (HNF1α), and MODY5 (HNF1β) was performed by direct sequencing followed by multiplex ligation amplification assays. …”
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  3. 2703

    Deciphering the dose-dependent effects of thymoquinone on cellular proliferation and transcriptomic changes in A172 glioblastoma cells. by Rachana Pandey, Purushothaman Natarajan, Umesh K Reddy, Wei Du, Cristian Sirbu, Moussa Sissoko, Gerald R Hankins

    Published 2025-01-01
    “…In this study, we assessed the impact of different TQ concentrations on the viability of A172 cells using WST-8 and Toluidine blue assays, followed by RNA sequencing (RNA-Seq) to identify differentially expressed genes (DEGs). …”
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  4. 2704

    Clinical phenotype and genetic analysis of patients with severe oligoasthenospermia carrying heterozygous SOHLH1 c.346-1G>A mutation by Xiaojun Wen, Zhiming Li, Lizi Cheng, Jianhong Wei, Wenjuan Yu, Xiufeng Lin, Xiufeng Lin, Xiaowu Fang

    Published 2025-01-01
    “…Therefore, in this study, we aimed to elucidate the genetic etiology of two cases of male infertility resulting from SOA and clarify the novel clinical phenotype associated with a heterozygous mutation at the c.346-1G>A site of the SOHLH1 gene.Methods and resultsThrough whole-exome sequencing, we found that patients with SOA carried heterozygous mutations at the c.346-1G>A site. …”
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  5. 2705

    NTRK-rearranged spindle cell tumor with SPECC1L-NTRK3 fusion in the thoracic spine: a case report by Mi Zhou, Huaiyuan Xu, Jianxiong Niu, Qibing Yang, Anqi Wang, Hao Wu, Xiangqin Wang, Meng Yang, Jinxin Hu, Qinglian Tang, Jin Wang

    Published 2024-12-01
    “…This case underscores the diagnostic and therapeutic importance of next-generation sequencing in identifying tumor-specific genetic alterations and selecting targeted therapies. …”
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  6. 2706

    METTL1 coordinates cutaneous squamous cell carcinoma progression via the m7G modification of the ATF4 mRNA by Xinru Zhang, Tong Chen, Fanrong Zhang, Huanhuan Shi, Xiang Li, Zhijuan Wang, Dong Wang, Chao Hou

    Published 2025-01-01
    “…Mechanistically, through a combination of RNA sequencing, m7G methylated immunoprecipitation (MeRIP)-qPCR, and mRNA stability assays, we discovered that METTL1 is responsible for the m7G modification of ATF4 mRNA, leading to increased expression of ATF4. …”
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  7. 2707

    The Composition of Gut Microbiota in Patients Bearing Hashimoto’s Thyroiditis with Euthyroidism and Hypothyroidism by Simo Liu, Yaxin An, Bin Cao, Rongxin Sun, Jing Ke, Dong Zhao

    Published 2020-01-01
    “…Fecal samples were collected, and microbiota was examined by using 16S RNA ribosomal RNA gene sequencing. Then, we analyzed the possible pathways in relation to the enriched bacteria by linear discriminant analysis (LDA) effect size (LEfSe). …”
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  8. 2708

    MetaQ: fast, scalable and accurate metacell inference via single-cell quantization by Yunfan Li, Hancong Li, Yijie Lin, Dan Zhang, Dezhong Peng, Xiting Liu, Jie Xie, Peng Hu, Lu Chen, Han Luo, Xi Peng

    Published 2025-01-01
    “…Abstract To overcome the computational barriers of analyzing large-scale single-cell sequencing data, we introduce MetaQ, a metacell algorithm that scales to arbitrarily large datasets with linear runtime and constant memory usage. …”
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  9. 2709

    Changes in RNA Splicing: A New Paradigm of Transcriptional Responses to Probiotic Action in the Mammalian Brain by Xiaojie Yue, Lei Zhu, Zhigang Zhang

    Published 2025-01-01
    “…Here, we investigated the effects of the gut-associated probiotic Lacidofil<sup>®</sup> on alternative splicing across 10 regions of the rat brain using published RNA-sequencing data. The Lacidofil<sup>®</sup> altogether altered 2941 differential splicing events, predominantly, skipped exon (SE) and mutually exclusive exon (MXE) events. …”
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  10. 2710

    Genotyping and Molecular Characterization of VP6 and NSP4 Genes of Unusual Rotavirus Group A Isolated from Children with Acute Gastroenteritis by Charilaos Dellis, Elizabeth-Barbara Tatsi, Dimitra-Maria Koukou, Filippos Filippatos, Evangelia-Eirini Vetouli, Emmanouil Zoumakis, Athanasios Michos, Vasiliki Syriopoulou

    Published 2024-01-01
    “…Unusual RVA strains extracted from fecal samples of children ≤16 years with AGE were genotyped in VP6 and NSP4 genes with Sanger sequencing. In a 15-year period (2007–2021), 54.8% (34/62) of unusual RVA were successfully I and E genotyped. …”
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  11. 2711

    Long Noncoding RNA uc001pwg.1 Is Downregulated in Neointima in Arteriovenous Fistulas and Mediates the Function of Endothelial Cells Derived from Pluripotent Stem Cells by Lei Lv, Haozhe Qi, Xiangjiang Guo, Qihong Ni, Zezhen Yan, Lan Zhang

    Published 2017-01-01
    “…We first analyzed the expression profiles of lncRNAs in human stenosed and nonstenotic uremic veins using RNA-sequencing methodology. A total of 19 lncRNAs were found to be differentially expressed in stenotic lesions. …”
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  12. 2712

    Multiomics-based assessment of the impact of airflow on diverse plant callus cultures by June-Sik Kim, Muneo Sato, Mikiko Kojima, Muchamad Imam Asrori, Yukiko Uehara-Yamaguchi, Yumiko Takebayashi, Thi Nhung Do, Thi Yen Do, Kieu Oanh Nguyen Thi, Hitoshi Sakakibara, Keiichi Mochida, Shinjiro Ogita, Masami Yokota Hirai

    Published 2025-02-01
    “…For each sample, gene expression was profiled with high-throughput RNA sequencing, 442 metabolites were measured using liquid chromatography (LC) with triple-quadrupole mass spectrometry (LC–QqQMS), and 31 phytohormones were quantified using ultra-performance LC coupled with a tandem quadrupole mass spectrometer equipped with an electrospray interface (UPLC-ESI-qMS/MS) and ultra-high-performance LC–orbitrap MS (UHPLC-Orbitrap MS). …”
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  13. 2713

    “Sichuanvirus”, a novel bacteriophage viral genus, able to lyse carbapenem-resistant Klebsiella pneumoniae by Juan Li, Qingqing Fang, Huan Luo, Yan Feng, Yu Feng, Zhiyong Zong

    Published 2025-01-01
    “…We attempted to isolate lytic phages against CRKP of sequence type 11 and capsular type 64 (ST11-KL64), the predominant type in China. …”
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  14. 2714

    Familial Lymphoproliferative Malignancies and Tandem Duplication of NF1 Gene by Gustavo Fernandes, Mirela Souto, Frederico Costa, Edite Oliveira, Bernardo Garicochea

    Published 2014-01-01
    “…The coding region of the NF-1 gene was analyzed by real-time polymerase chain reaction and direct sequencing. Multiplex ligation-dependent probe amplification was performed to detect the number of mutant copies. …”
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  15. 2715

    Distribution and environmental dissemination of antibiotic resistance genes in poultry farms and surrounding ecosystems by ShangMin Li, Kai Wang, DanPing Wang, HongZhi Wang, HuaXuan Zhao, JunHua Pu, KeHua Wang, ChunMei Li

    Published 2025-01-01
    “…We used 16S rRNA gene sequencing and HT-qPCR to analyze the characteristics of aerosol microbial communities and the abundance of ARGs. …”
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  16. 2716

    From Cure to Crisis: Understanding the Evolution of Antibiotic-Resistant Bacteria in Human Microbiota by Hamed Tahmasebi, Neda Arjmand, Marzieh Monemi, Ali Babaeizad, Farnaz Alibabaei, Negar Alibabaei, Aisa Bahar, Valentyn Oksenych, Majid Eslami

    Published 2025-01-01
    “…Innovative strategies, including next-generation sequencing (NGS) technologies, offer promising avenues for mitigating resistance. …”
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  17. 2717

    Rhipicephalus simus ticks: new hosts for phleboviruses by Samuel Munalula Munjita, Benjamin Mubemba, John Tembo, Mathew Bates, Sody Munsaka, Ala Tabor

    Published 2024-08-01
    “…Notably, viral sequence LSK-ZM-102022 exhibited similarity to tick phleboviruses, sharing 74.92% nucleotide identity in the RdRp gene and 72% in the NP gene with tick-borne phlebovirus (TBPV) from Greece and Romania, respectively. …”
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  18. 2718
  19. 2719

    Transient ocular hypertension remodels astrocytes through S100B. by Weiran Huang, Kenji Matsushita, Rumi Kawashima, Susumu Hara, Yuichi Yasukura, Kaito Yamaguchi, Shinichi Usui, Koichi Baba, Andrew J Quantock, Kohji Nishida

    Published 2025-01-01
    “…We also silenced S100B expression and conduct RNA sequencing on ONH astrocytes. Astrocytes displayed weaker GFAP intensity (p < 0.0001) in the early-stage OHT mouse model, prior to the onset of hypertrophy, which was accompanied by an increase in GFAP mRNA expression (p < 0.0001) and a decrease in S100B mRNA expression (p < 0.001). …”
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  20. 2720

    Diversity and Multiple Infections of <i>Bartonella</i> in Red Deer and Deer Keds by Iva Hammerbauerová, Eva Richtrová, Kateřina Kybicová, Petr Pajer, Jan Votýpka

    Published 2024-12-01
    “…Additionally, <i>B. schoenbuchensis</i> sensu lato and <i>B. bovis</i> were found, together making up 17 genotypes characterized by multi-locus sequence typing, all unique compared to previously published sequences. …”
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