Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease by Elisa Rubino, Maria Italia, Elisa Giorgio, Silvia Boschi, Paola Dimartino, Tommaso Pippucci, Fausto Roveta, Clara Maria Cambria, Gabriella Elia, Andrea Marcinnò, Salvatore Gallone, Ekaterina Rogaeva, Flavia Antonucci, Alfredo Brusco, Fabrizio Gardoni, Innocenzo Rainero

“…Exome sequencing was performed on three affected individuals and two healthy relatives. Bioinformatics analyses were conducted. Functional analysis was performed using primary neuronal cultures, and the impact of the variant was assessed through immunocytochemistry and electrophysiology. …”
Get full text

The CHK1 inhibitor prexasertib in BRCA wild-type platinum-resistant recurrent high-grade serous ovarian carcinoma: a phase 2 trial by Elena Giudice, Tzu-Ting Huang, Jayakumar R. Nair, Grant Zurcher, Ann McCoy, Darryl Nousome, Marc R. Radke, Elizabeth M. Swisher, Stanley Lipkowitz, Kristen Ibanez, Duncan Donohue, Tyler Malys, Min-Jung Lee, Bernadette Redd, Elliot Levy, Shraddha Rastogi, Nahoko Sato, Jane B. Trepel, Jung-Min Lee

Get full text

Single‐cell RNA‐sequencing and spatial transcriptomic analysis reveal a distinct population of APOE− cells yielding pathological lymph node metastasis in papillary thyroid cancer... by Guohui Xiao, Rongli Xie, Jianhua Gu, Yishu Huang, Min Ding, Dongjie Shen, Jiqi Yan, Jianming Yuan, Qiong Yang, Wen He, Siyu Xiao, Haizhen Chen, Dan Xu, Jian Wu, Jian Fei

“…A machine‐learning bioinformatics model based on scRNA‐seq data of in‐situ thyroid cancer tissue was established to predict lymph node metastasis.…”
Get full text

Ionizing radiation-induced disruption of Rela-Bclaf1-spliceosome regulatory axis in primary spermatocytes causing spermatogenesis dysfunction by Hongjian Zhou, Zhipeng Xu, Chun Jiang, Qiuyue Wu, Chuanyue Zhang, Zhenyu Liu, Xiaoxue Zhang, Weiwei Li, Yujia Pang, Jing Zhang, Wenju Pan, Min Chen, Xinyi Xia

“…Results A 6 Gy IR dose induced spermatogenesis disorder and suppressed the spliceosome pathway, predominantly affecting the cell abundance of spermatogonia and primary spermatocytes. Bioinformatics analysis revealed that IR induced splicing disorders in differentiation-related genes, thereby impairing the differentiation ability of primary spermatocytes. …”
Get full text

Identification of <i>Bacillus anthracis</i> Strains from Animal Cases in Ethiopia and Genetic Characterization by Whole-Genome Sequencing by Abebe Olani, Domenico Galante, Matios Lakew, Bayeta Senbeta Wakjira, Getnet Abie Mekonnen, Tesfaye Rufael, Tsegaye Teklemariam, Wondwosen Kumilachew, Shimalis Dejene, Ayele Woldemeskel, Adanech Wakjira, Getachew Abichu, Baye Ashenafi, Nigatu Kebede, Aklilu Feleke Haile, Fufa Dawo Bari, Laura Del Sambro, Tadesse Eguale

“…For the first time in Ethiopia, the genetic diversity of five <i>Bacillus anthracis</i> strains, isolated from dead cattle and goats, was investigated by Whole Genome Sequencing (WGS) and bioinformatics analyses. The five sequenced strains were compared to one Ethiopian <i>B. anthracis</i> genome and the other 29 <i>B. anthracis</i> genomes available in the global genetic databases to determine their phylogeny. …”
Get full text

Expression of cell-wall related genes is highly variable and correlates with sepal morphology by Hartasánchez, Diego A., Kiss, Annamaria, Battu, Virginie, Soraru, Charline, Delgado-Vaquera, Abigail, Massinon, Florian, Brasó-Vives, Marina, Mollier, Corentin, Martin-Magniette, Marie-Laure, Boudaoud, Arezki, Monéger, Françoise

Get full text

Autism common variants associated with white matter alterations at birth: cross-sectional fixel-based analyses of 221 European term-born neonates from the developing human connecto... by Hai Le, Alexandra F. Bonthrone, Alena Uus, Daphna Fenchel, Alexandra Lautarescu, Konstantina Dimitrakopoulou, A. David Edwards, Joseph V. Hajnal, Serena J. Counsell, Lucilio Cordero-Grande, Daan Christiaens, Dafnis Batalle, Maximilian Pietsch, Anthony N. Price, Hamel Patel, Charles Curtis, Harriet Cullen, Maria Deprez, Jacques-Donald Tournier

Get full text

SNP discovery by exome capture and resequencing in a pea genetic resource collection by Aubert, Grégoire, Kreplak, Jonathan, Leveugle, Magalie, Duborjal, Hervé, Klein, Anthony, Boucherot, Karen, Vieille, Emilie, Chabert-Martinello, Marianne, Cruaud, Corinne, Bourion, Virginie, Lejeune-Hénaut, Isabelle, Pilet-Nayel, Marie-Laure, Bouchenak-Khelladi, Yanis, Francillonne, Nicolas, Tayeh, Nadim, Pichon, Jean-Philippe, Rivière, Nathalie, Burstin, Judith

Get full text

OXA β-lactamases from Acinetobacter spp. are membrane bound and secreted into outer membrane vesicles by Lucia Capodimonte, Fernando Teixeira Pinto Meireles, Guillermo Bahr, Robert A. Bonomo, Matteo Dal Peraro, Carolina López, Alejandro J. Vila

“…NDMs have been exceptionally characterized as lipoproteins anchored to the outer membrane. A bioinformatics study on all sequenced β-lactamases was performed that revealed a predominance of putative lipidated enzymes in the Class D OXAs. …”
Get full text

Leveraging AI to automate detection and quantification of extrachromosomal DNA to decode drug responses by Kohen Goble, Aarav Mehta, Damien Guilbaud, Jacob Fessler, Jingting Chen, William Nenad, William Nenad, Christina G. Ford, Oliver Cope, Darby Cheng, William Dennis, Nithya Gurumurthy, Yue Wang, Kriti Shukla, Elizabeth Brunk, Elizabeth Brunk, Elizabeth Brunk, Elizabeth Brunk, Elizabeth Brunk

Get full text

Identification and functional analysis of Wall-Associated Kinase genes in Nicotiana tabacum by Ling Li, Linggai Cao, Jintao Li, Zhiqiang Zhang, Zhiqiang Zhang, Jie Liu, Zhongying Ren, Jie Zhang, Rengang Wang, Yangfan Miao, Shizhou Yu, Wei Li, Wei Li

“…IntroductionWall-associated kinases (WAKs) are pivotal in linking plant cell walls to intracellular signaling networks, thereby playing essential roles in plant growth, development, and stress responses. MethodsThe bioinformatics analysis was employed to identify WAK genes in tobacco. …”
Get full text

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

“…WES identified NM_198075.4:c.755del in the LRRC56 gene and NM_001454.4:c.865_868dup in the FOXJ1 gene in two situs inversus cases, along with two variants in DNAH5 in two other fetuses. Further bioinformatics scrutiny was conducted to assess the protein structure and function prediction of these variants, ultimately indicating their potential pathogenicity. …”
Get full text

Discovery of Novel Diagnostic Biomarkers for Common Pathogenic <i>Nocardia</i> Through Pan-Genome and Comparative Genome Analysis, with Preliminary Validation by Chaohong Wang, Xinmiao Jia, Ming Wei, Jun Yan, Qing Sun, Sibo Long, Maike Zheng, Yiheng Shi, Guanglu Jiang, Yan Zhao, Hairong Huang, Xinting Yang, Li Gu, Guirong Wang

Get full text

NCAPD3-mediated ferroptosis of 2,3,5,4’-Tetrahydroxystilbene-2-O-β-D-glucoside inhibits proliferation in T47D cells by Jianfen Shen, Shuo Zhang, Shuo Zhang, Yan Song, Yan Song, Leiming Yang, Leiming Yang, Qi Huang, Qi Huang, Pengyu Wang, Pengyu Wang, Youzhi Zhang, Youzhi Zhang

“…And the hub genes (transcripts) were selected using the bioinformatics analysis, quantitative polymerase chain reaction (qPCR) and Western blotting (WB). …”
Get full text

Lnc-EST885 promotes hepatocellular carcinoma metastasis through PI3K / AKT pathway by interaction with TRAF4 by Shaoliang Zhu, Gang Wang, Yuxuan Zhang, Mengjie Zou, Zhi Li, Shenhong Qu, Xiaosu Zou, Wenqian Nong, Weiwei Miao, Qicong Chen, Juanmei Mo, Huibing Chen, Lequn Li, Xiaofeng Dong, Honglin Luo

“…Furthermore, the association of lnc-EST885 and TRAF4 with HCC prognosis and metastasis was evaluated through bioinformatics analysis and animal models. Results: lnc-EST885 is one of the lncRNAs with the highest expression levels in M2-type macrophages. …”
Get full text

Standardization and validation of a novel reverse transcriptase polymerase chain reaction method for detecting virulent strains of the infectious bursal disease virus by Vladimir Longa-Bobadilla, Phillip Ormeño-Vásquez, Manuel Criollo-Orozco, Luis Tataje-Lavanda, Katherine Huamán-Gutierrez, Ángela Montalván, Mirko Zimic, Manolo Fernández-Sanchez, Manolo Fernández-Díaz

Get full text

Exploring the Mechanism of Canmei Formula in Preventing and Treating Recurrence of Colorectal Adenoma Based on Data Mining and Algorithm Prediction by Xiaoling Fu, Yimin Xu, Xinyue Han, Xiangying Lin, Jingnan Wang, Guanhong Li, Xiaochen Fu, Min Zhang

“…Network topology analysis and bioinformatics analysis were performed on 164 intersecting core targets. …”
Get full text

4-Octyl itaconate inhibits synovitis in the mouse model of post-traumatic osteoarthritis and alleviates pain by Yu-Zhen Tang, Wan Chen, Bao-Yun Xu, Gang He, Xiu-Cheng Fan, Kang-Lai Tang

“…Consequently, this treatment alleviated pain in PTOA mice (p < 0.001) and reduced spontaneous activity (p = 0.003). Bioinformatics and network pharmacology analyses indicated that 4-OI may exert its therapeutic effects by inhibiting the differentiation of synovial Th17 cells. …”
Get full text

Stratification system with dual human endogenous retroviruses for predicting immunotherapy efficacy in metastatic clear-cell renal cell carcinoma by Li Xu, Stephane Oudard, Catherine Sautes-Fridman, Xiaoping Su, Gabriel G. Malouf, Virginie Verkarre, Salma Kotti, Fangrong Yan, Yann-Alexandre Vano, Wolf Herve Fridman, Cheng-Ming Sun, Xiaofan Lu, Wenxuan Cheng

Get full text

Genome-wide identification and expression analysis of phytochrome gene family in Aikang58 wheat (Triticum aestivum L.) by Zhu Yang, Zhu Yang, Wenjie Kan, Wenjie Kan, Ziqi Wang, Caiguo Tang, Yuan Cheng, Yuan Cheng, Dacheng Wang, Dacheng Wang, Yameng Gao, Lifang Wu, Lifang Wu

“…In this study, we employed bioinformatics methods to identify eight TaAkPHY genes in the Aikang58 wheat variety. …”
Get full text