SNRPB/CCNB1 axis promotes hepatocellular carcinoma progression and cisplatin resistance through enhancing lipid metabolism reprogramming by Xin Jin, Xigan He, Runze Huang, Qinyu Liu, Lei Wang, Xuanci Bai, Yibin Wu, Yixiu Wang, Ziting Jiang, Yi Shi, Gautam Sethi, Lu Wang, Weiping Zhu

“…Methods Utilizing multi-dimensional data that integrates bulk RNA sequencing (bulk RNA-seq), single-cell RNA sequencing (scRNA-seq), and spatial transcriptomics (ST) from HCC patients, we have identified SNRPB as a pivotal gene associated with the spliceosome, playing a central role in both tumor initiation and progression. …”
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Clinical and genetic features of CNGA3 achromatopsia in preschool children: novel insights into retinal architecture and therapeutic window for clinical trials by Yanting Lai, Yanting Lai, Aohan Hou, Aohan Hou, Linyan Zhang, Linyan Zhang, Limei Sun, Limei Sun, Miner Yuan, Miner Yuan, Xiaoyan Ding, Xiaoyan Ding

“…This study aims to provide a comprehensive phenotyping of the retinal structure and identify novel genetic variants in a preschool cohort with ACHM in China.MethodsWe recruited patients with pathogenic genes (CNGA3, CNGB3, GNAT2, PDE6C, PDE6H, and ATF6) known to cause ACHM, all of whom had an age of symptom onset before 6 years of age. Whole exome sequencing, Sanger sequencing, and comprehensive ocular examinations, including optical coherence tomography (OCT), were conducted. …”
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Real‐World Data of Comprehensive Cancer Genomic Profiling Tests Performed in the Routine Clinical Setting in Sarcoma by Eiji Nakata, Daisuke Ennishi, Tatsunori Osone, Kiichiro Ninomiya, Shuta Tomida, Takuto Itano, Tomohiro Fujiwara, Toshiyuki Kunisada, Naoyuki Ida, Hideki Yamamoto, Mashu Futagawa, Tatsunori Shimoi, Hiroyuki Yanai, Akira Hirasawa, Shinichi Toyooka, Masahiro Tabata, Toshifumi Ozaki

“…ABSTRACT Introduction Next‐generation sequencing‐based comprehensive cancer genomic profiling (CGP) tests are beneficial for refining diagnosis and personalized treatment of various cancers. …”
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Glutathione hybrid poly (beta-amino ester)-plasmid nanoparticles for enhancing gene delivery and biosafety by Songwei Tan, Caiyan Yuan, Yuhe Zhu, Shuangyan Chang, Qianru Li, Jiahui Ding, Xueqin Gao, Rui Tian, Zhiqiang Han, Zheng Hu

“…This system was characterized by flow cytometry, RNA-seq, Polymerase Chain Reaction (PCR) and Sanger sequencing in vitro, and its safety and efficacy in vivo was evaluated by imaging, PCR, Sanger sequencing and histology analysis. …”
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Response to neoadjuvant chemotherapy in early breast cancers is associated with epithelial–mesenchymal transition and tumor‐infiltrating lymphocytes by Françoise Derouane, Jérôme Ambroise, Cédric vanMarcke, Mieke Van Bockstal, Martine Berlière, Christine Galant, Hélène Dano, Médina Lougué, Elena Benidovskaya, Guy Jerusalem, Vincent Bours, Claire Josse, Jérôme Thiry, Aurélie Daumerie, Caroline Bouzin, Cyril Corbet, François P. Duhoux

“…Using bulk RNA sequencing and immunofluorescence (IF) for EMT (E‐cadherin and vimentin) and lymphocyte markers (CD3, CD8, FOXP3), we analyzed pre‐ and post‐NAC tumor samples from 100 early‐BC patients treated with NAC. …”
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The Identification of Novel Mutations in ATP-Dependent Protease ClpC1 Assists in the Molecular Diagnosis of Obscured Pyrazinamide-Resistant Tuberculosis Clinical Isolates by H. M. Adnan Hameed, Cuiting Fang, Zhiyong Liu, Yamin Gao, Shuai Wang, Xinwen Chen, Nanshan Zhong, Htin Lin Aung, Jinxing Hu, Tianyu Zhang

“…Five <i>pncA</i>-wild-type PZA^R strains were investigated through whole-genome sequencing. ClpC1P1P2 activity was evaluated by proteolytic degradation assay. …”
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Real-World Study on Implementation of Genomic Tests for Advanced Lung Adenocarcinoma in Brazil by Rodrigo Dienstmann, Leonard M. da Silva, Fernanda Orpinelli Ramos do Rego, Amanda Muniz Rodrigues, Fernanda Christtanini Koyama, Layla Testa Galindo, Carolina de Bustamante Fernandes, Bruno Batista de Souza, Rafael Duarte Paes, Tatiane Montella, Pedro de Marchi, Breno Jeha Araújo, Bruno Lemos Ferrari, Clarissa Mathias, Emilio Pereira, Mariano Gustavo Zalis, Chesley Leslin, Carlos Gil Ferreira

“…Here, we describe the initial implementation of a tailored tissue molecular journey at Oncoclínicas Precision Medicine Laboratory in Brazil, which includes fast-track (FT) non–next-generation sequencing (NGS) assays combined with a broad NGS panel.METHODSFrom 2021 to 2023, all nonsquamous lung cancer samples eligible for the patient support program “Lung Mapping Consortium” at Oncoclínicas & Co were evaluated using the FT panel (immunohistochemistry for PD-L1 and anaplastic lymphoma kinase [ALK], polymerase chain reaction for EGFR and BRAF, and fluorescence in situ hybridization for ROS1) plus a broad DNA and RNA sequencing panel of 180 genes (custom ARCHER panel).RESULTSFrom 1,272 samples received by the laboratory, 3% had no tissue for any molecular testing, 20% was not eligible for broad NGS panel as per pathologist assessment (tumor purity and quantity), additional 12% did not reach presequencing analytical thresholds (nucleic acid quantity and/or quality), and 3% had postsequencing failure. …”
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SARS-CoV-2 lineage B.1.1.7 is associated with greater disease severity among hospitalised women but not men: multicentre cohort study by Judith Breuer, Catherine F Houlihan, Nick Freemantle, David Partridge, Gaia Nebbia, Jacqui Prieto, Gee Yen Shin, Andrew Copas, Oliver Stirrup, Kenneth Laing, Rachel Williams, Helen Wheeler, Paul Randell, Ana da Silva Filipe, Maria-Teresa Cutino-Moguel, Tommy Rampling, Tabassum Khan, James Price, Eleni Nastouli, Katie Johnson, Sharon Glaysher, Scott Elliott, Helen Umpleby, Emanuela Pelosi, Emma Thomson, Cristina Venturini, Anna Riddell, Alison Cox, Andrew C Hayward, Malin Bergström, David Harrington, Charlotte Williams, Tanzina Haque, Dianne Irish, Adrienn Angyal, Marios Margaritis, Moira Spyer, Florencia Boshier, José Afonso Guerra-Assunção, Adela Alcolea-Medina, Angela Beckett, Themoula Charalampous, Raghavendran Kulasegaran Shylini, Beatrix Kele, Irene Monahan, Guy Mollett, Matthew Parker, Sunando Roy, Joshua Taylor, Sophie Weller, Eleri Wilson-Davies, Phillip Wade, Joseph Hughes, Tabitha Mahungu, Cassie Pope, Samuel Robson, Kordo Saeed, Thushan de Silva, Luke Snell, Adam A Witney, James Blackstone, Leanne Hockey, Georgia Marley, Christine Peters, Flavia Flaviani, Bindi Patel, Tom G S Williams, Rahul Batra, Jonathan D Edgeworth, Pinglawathee Madona, Jennifer Hart, Juanita Pang, Helena Tutill, Nadua Bayzid, Marius Cotic, Luke Green, Benjamin Lindsey, Amy State, Alison Cope, Peijun Zhang, Max Whiteley, Marta Gallis Ramalho, Stella Christou, Stavroula Louka, Hailey Hornsby, Benjamin Foulkes, Paige Wolverson, Joe Heffer, Nikki Smith, Salman Goudarzi, Chris Fearn, Kate Cook, Katie Loveson, Adhyana Mahamana, Buddhini Samaraweera, Siona Silveira, Stephen Aplin, Sarah Jeremiah, Matthew Harvey, Thea Sass, Ngee Keong Tan, Claudia Cardoso Pereira, Dan Frampton, Matt Byott, Judith Heaney, Emilie Sanchez, Stavroula M Paraskevopoulou

“…Associations between the variant and the outcomes of all-cause mortality and intensive therapy unit (ITU) admission were evaluated using mixed effects Cox models adjusted by age, sex, comorbidities, care home residence, pregnancy and ethnicity.Findings Sequences were obtained from 2341 inpatients (HOCI cases=786) and analysis of clinical outcomes was carried out in 2147 inpatients with all data available. …”
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Long-term survival after local immunotherapy for malignant gliomas: a retrospective study with 20 years follow-up by Hao Duan, Zhenqiang He, Zhenghe Chen, Yukun Chen, Wanming Hu, Ke Sai, Xiangheng Zhang, Jianchuan Xia, Yongqiang Li, Ranyi Liu, Chaowei Zou, Zhongping Chen, Yonggao Mou

“…Profiles of tumor genome, transcriptome and immune microenvironment were also investigated by genomic target sequencing, RNA sequencing, electrochemiluminescence assay and immunohistochemistry (IHC) staining. …”
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Broadening the ARMC2 mutational phenotype: linking multiple morphological abnormalities of the Flagella to Pulmonary Manifestations in Primary Ciliary Dyskinesia by Baoyan Wu, Wenhao Zhang, Hui Yu, Lewen Ruan, Kai Wang, Meng Gu, Hao Geng, Jiajun Fang, Chuan Xu, Yuying Sheng, Qing Tan, Qunshan Shen, Zongliu Duan, Huan Wu, Rong Hua, Rui Guo, Zhaolian Wei, Ping Zhou, Yuping Xu, Yunxia Cao, Xiaojin He, Kuokuo Li, Mingrong Lv, Dongdong Tang

“…Sanger sequencing was used to validate the candidate variants. …”
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Ras-MAPK pathway in patients with lupus nephritis by Dandan Liang, Zhihong Liu, Haitao Zhang, Changming Zhang, Jiahui Zhang, Ying Jin, Qing Zhong, JingXian Yu, Yangyang Zhang, Xiaoman Jing, Xingjian Gao

“…Here, we describe five unrelated patients with SLE carrying mutations associated with RASopathy and investigate the activity of the Ras-MAPK pathway.Methods Pathogenic variants were identified by whole-exome/whole-genome sequencing. The activity of the Ras-MAPK pathway in peripheral blood mononuclear cells (PBMC) and kidneys was evaluated using RNA sequencing and datasets from the nephroseq database, respectively.Results Five (likely) pathogenic variants in four Ras-MAPK genes were identified, including NRAS: c.G38A: p.G13D; ARAF: c.C1435T: p.R479C; KRAS: c.T341C: p.V114A; PTPN11: c.G455A: p.R152H and NRAS: c.G34A: p.G12S. …”
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Reliable detection of CNS lymphoma-derived circulating tumor DNA in cerebrospinal fluid using multi-biomarker NGS profiling: insights from a real-world study by Veronika Navrkalova, Andrea Mareckova, Samuel Hricko, Viera Hrabcakova, Lenka Radova, Vaclav Kubes, Jakub Porc, Tomas Reigl, Sarka Pospisilova, Jana Kotaskova, Andrea Janikova

“…Conclusions Our prospective, tissue-agnostic approach highlights the feasibility of ctDNA sequencing by a commonplace and affordable method, offering higher sensitivity to detect CNS infiltration with lymphoma than standard cell-analyzing techniques. …”
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Tofogliflozin attenuates renal lipid deposition and inflammation via PPARα upregulation mediated by miR-21a impairment in diet-induced steatohepatitic mice by Sae Nishihara, Masahiro Koseki, Katsunao Tanaka, Takashi Omatsu, Ayami Saga, Hiroshi Sawabe, Hiroyasu Inui, Takeshi Okada, Tohru Ohama, Daisuke Okuzaki, Yoshihiro Kamada, Masafumi Ono, Makoto Nishida, Mikio Watanabe, Yasushi Sakata

“…Therefore, we used this model to evaluate the effects of tofogliflozin on renal lipid metabolism and inflammation. …”
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Intranasal Transplantation of Microbiota Derived from Parkinson’s Disease Mice Induced Astrocyte Activation and Neurodegenerative Pathology from Nose to Brain by Yi-Meng Xia, Mei-Xuan Zhang, Xiao-Yu Ma, Lu-Lu Tan, Ting Li, Jian Wu, Ming-An Li, Wei-Jiang Zhao, Chen-Meng Qiao, Xue-Bing Jia, Yan-Qin Shen, Chun Cui

“…Then we analyzed the nasal microbiota composition via 16S rRNA sequencing, evaluated the olfactory and motor functions through behavioral experiments, including buried food test, open field test, pole descent test, and traction test. …”
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The effect of Zuogui-Jiangtang-Yishen decoction on the intestinal flora’s response to L-α-phosphatidylcholine and L-tyrosine in patients with diabetic kidney disease: an in vitro s... by Yeshi Yin, Yeshi Yin, Changhui Zhao, Qin Xiang, Zongyan Li, Xiu Liu, Changhui Hu, Rong Yu

“…High-throughput sequencing of bacterial 16S RNA genes and fungal internal transcribed spacer (ITS) sequences was used for intestinal flora analysis. …”
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Comparison of local effects and systemic T-cell responses in patients with breast cancer treated by radiofrequency ablation versus microwave ablation by Muxin Yu, Bangjie Wang, Ying Qu, Wen Sun, Mengdi Liang, Xinrui Mao, Yunshan Jiang, Jiaming Wang, Xinyu Tang, Hong Pan, Yi Zhao, Hui Xie, Qiang Ding, Shui Wang, Wenbin Zhou

“…The local effect of thermal ablation evaluated through pathological examinations or radiological imaging was the primary outcome. …”
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Identification of a novel prognostic marker ADGRG6 in pancreatic adenocarcinoma: multi-omics analysis and experimental validation by Han Wu, Han Wu, Jin Shang, Yuanyan Bao, Huajie Liu, Haoran Zhang, Yaosheng Xiao, Yangtaobo Li, Zhaozhang Huang, Xiaolei Cheng, Zixuan Ma, Wenqing Zhang, Pingli Mo, Daxuan Wang, Mingqing Zhang, Yanyan Zhan

“…To assess the role of ADGRG6 in the tumor microenvironment of PAAD, we evaluated immune infiltration using CIBERSORT, ssGSEA, xCell and Tracking Tumor Immunophenotype (TIP), and utilized single-cell sequencing data to explore cell-cell interactions. …”
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Stabilizing effect of epoxidized sunflower oil as a secondary stabilizer for Ca/Hg stabilized PVC

“…The formation of polyene sequences was investigated by UV-visible and FT-IR spectroscopy and by comparing viscosity data obtained in the presence and in the absence of the additives. …”
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“Stable” vs. “silent progressive multiple sclerosis”: a real-world retrospective clinical imaging Brazilian study by Gustavo Medeiros Andrade FIGUEIRA, Paula Vallegas SOARES, Raquel Custodio da SILVEIRA, Fernando Faria Andrade FIGUEIRA

“…We consider it reasonable to suggest that MRI volume sequences should be included in follow-up protocols, so as to provide information on the real treatment response status.…”
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Nebulization of 2% lidocaine has no detectable impact on the healthy equine respiratory microbiota. by Lauren Holley, Hannah N Creasey, Daniela Bedenice, Sarah Reed, Debora Regina Romualdo da Silva, Victoria Trautwein, Melissa Mazan, Giovanni Widmer

“…The profile of the respiratory bacterial microbiota was evaluated using 16S amplicon sequencing, and clinical data compared using related samples analyses, based on data normality. …”
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