Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort by Shih‐Yu Fang, Cheng‐Tsung Hsiao, Kang‐Yang Jih, Yu‐Sheun Tsai, Kuan‐Lin Lai, Cheng‐Ta Chou, Yi‐Chu Liao, Yi‐Chung Lee

“…Interpretation ITM2B mutations accounted for 1.4% of cerebellar ataxia cases in the Taiwanese cohort, with patients carrying ITM2B c.800G>T descending from a common ancestor. …”
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FLT3 is associated with dendritic cell infiltration, tertiary lymphoid structure construction, and predict response to checkpoint inhibitors immunotherapy in solid cancers by Yongchang Tang, Hong Wang, Jiankun Zhang, Chunhui Yang, Fei Xu, Yan Song, Tianen Li, Qiangbo Zhang

“…FMS-like tyrosine kinase 3 (FLT3) is a frequently mutated gene in acute myeloid leukemia (AML). However, its role in solid cancers remains poorly understood. …”
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Heterogeneity of avian infectious bronchitis virus population by Ye. V. Ovchinnikova, L. O. Scherbakova, S. N. Kolosov, A. N. Andriyasova, N. G. Zinyakov, Z. B. Nikonova, A. A. Kozlov, P. B. Akshalova, D. A. Altunin, D. B. Andreychuk

“…Due to the lack of mechanisms to correct errors during genome replication, the virus can quickly mutate and generate new strains. This is facilitated by widespread use of live vaccines, simultaneous circulation of field viruses belonging to different serotypes in one flock and rapid spread of the virus. …”
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Effects of perioperative treatment of resectable adenocarcinoma of esophagogastric junction by immunotherapy (Adebrelimab) combined with chemotherapy (XELOX): protocol for a single... by Yingyi Li, Yuqin Cao, Xipeng Wang, Chengqiang Li, Liqin Zhao, Hecheng Li

“…The exploratory outcomes are the biomarkers related to therapeutic efficacy, such as PD-L1 expression, microsatellite instability (MSI), tumor mutational burden(TMB), Epstein-Barr virus(EBV) infection, and circulating tumor DNA(ctDNA). …”
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From Natural Hosts to Agricultural Threats: The Evolutionary Journey of Phytopathogenic Fungi by Asanka Madhushan, Dulan Bhanuka Weerasingha, Evgeny Ilyukhin, Paul W. J. Taylor, Amila Sandaruwan Ratnayake, Jian-Kui Liu, Sajeewa S. N. Maharachchikumbura

“…While sexual recombination is rare and mainly occurs at the center of origin of the pathogen, asexual mechanisms such as mutations, parasexual recombination, horizontal gene or chromosome transfer, and chromosomal structural variations are predominant. …”
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Protection against Mitochondrial and Metal Toxicity Depends on Functional Lipid Binding Sites in ATP13A2 by Shaun Martin, Sarah van Veen, Tine Holemans, Seyma Demirsoy, Chris van den Haute, Veerle Baekelandt, Patrizia Agostinis, Jan Eggermont, Peter Vangheluwe

“…Here, we analyzed stable human SHSY5Y cell lines overexpressing wild-type (WT) or ATP13A2 mutants in which three N-terminal lipid binding sites (LBS1–3) were mutated. We explored the regulatory role of LBS1–3 in the cellular protection by ATP13A2 against mitochondrial stress induced by rotenone and found that the LBS2-3 mutants displayed an abrogated protective effect. …”
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Balancing selection at a wing pattern locus is associated with major shifts in genome-wide patterns of diversity and gene flow by Rodríguez de Cara, María Ángeles, Jay, Paul, Rougemont, Quentin, Chouteau, Mathieu, Whibley, Annabel, Huber, Barbara, Piron-Prunier, Florence, Ramos, Renato Rogner, Freitas, André V. L., Salazar, Camilo, Silva-Brandão, Karina Lucas, Torres, Tatiana Teixeira, Joron, Mathieu

“…Selection shapes genetic diversity around target mutations, yet little is known about how selection on specific loci affects the genetic trajectories of populations, including their genome-wide patterns of diversity and demographic responses. …”
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High CXCR3 on Leukemic Cells Distinguishes IgHVmut from IgHVunmut in Chronic Lymphocytic Leukemia: Evidence from CD5high and CD5low Clones by Gayane Manukyan, Tomas Papajik, Zuzana Mikulkova, Renata Urbanova, Veronika Smotkova Kraiczova, Jakub Savara, Milos Kudelka, Peter Turcsanyi, Eva Kriegova

“…To further characterize CD5high and CD5low neoplastic cells, we assessed the chemokine receptors (CCR5, CCR7, CCR10, CXCR3, CXCR4, CXCR5) and adhesion molecules (CD54, CD62L, CD49d) on the CD5high and CD5low subpopulations, defined by CD5/CD19 coexpression, in peripheral blood of CLL patients (n=60) subgrouped according to the IgHV mutational status (IgHVmut, n=24; IgHVunmut, n=36). …”
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Generation and characterization of two induced pluripotent stem cell lines (ICGi052-A and ICGi052-B) from a patient with frontotemporal dementia with parkinsonism-17 associated wit... by E. V. Grigor’eva, A. A. Malakhova, E. S. Yarkova, J. M. Minina, Y. V. Vyatkin, J. A. Nadtochy, E. A. Khabarova, J. A. Rzaev, S. P. Medvedev, S. M. Zakian

“…The inherited form of frontotemporal dementia can be caused by mutations in several genes, including the MAPT gene on chromosome 17, which encodes the tau protein. …”
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A Simple Machine Learning-Based Quantitative Structure–Activity Relationship Model for Predicting pIC₅₀ Inhibition Values of FLT3 Tyrosine Kinase by Jackson J. Alcázar, Ignacio Sánchez, Cristian Merino, Bruno Monasterio, Gaspar Sajuria, Diego Miranda, Felipe Díaz, Paola R. Campodónico

“…<b>Background/Objectives:</b> Acute myeloid leukemia (AML) presents significant therapeutic challenges, particularly in cases driven by mutations in the FLT3 tyrosine kinase. This study aimed to develop a robust and user-friendly machine learning-based quantitative structure–activity relationship (QSAR) model to predict the inhibitory potency (pIC₅₀ values) of FLT3 inhibitors, addressing the limitations of previous models in dataset size, diversity, and predictive accuracy. …”
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Titin fragment is a sensitive biomarker in Duchenne muscular dystrophy model mice carrying full-length human dystrophin gene on human artificial chromosome by Yosuke Hiramuki, Miwa Hosokawa, Kayo Osawa, Taku Shirakawa, Yasuhiro Watanabe, Ritsuko Hanajima, Hiroyuki Kugoh, Hiroyuki Awano, Masafumi Matsuo, Yasuhiro Kazuki

“…Abstract Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations of the dystrophin gene, which spans 2.4 Mb on the X chromosome. …”
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Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center by Simona Fecarotta, Lorenzo Vaccaro, Alessandra Verde, Marianna Alagia, Alessandro Rossi, Chiara Colantuono, Maria Teresa Cacciapuoti, Patrizia Annunziata, Sara Riccardo, Antonio Grimaldi, Tonya Fusco, Rosa De Santis, Fernando Barretta, Lucia Albano, Daniela Crisci, Fabiana Vallone, Antonietta Tarallo, Marcella Cesana, Nicola Brunetti-Pierri, Giulia Frisso, Margherita Ruoppolo, Davide Cacchiarelli, Giancarlo Parenti

“…In 45 newborns the molecular analysis showed heterozygosity for mutations in one or more of the genes analyzed, with results compatible with the biochemical profile indicative of NBS positivity. …”
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The ILE462VAL polymorphism of the cytochrome P450 CYP1A1 gene among Tundra Nenets in Yamalo-Nenets Autonomous Okrug, Nganasans in the Taimyr Peninsula and Russians in Siberia by R. P. Tiis, L. P. Osipova, T. V. Churkina, L. E. Tabikhanova, D. V. Lichman, E. N. Voronina, M. L. Filipenko

“…This substitution results in a two- fold increase in enzyme activity, which leads to accumulation of active intermediates and increases the risk of DNA mutations and chemically induced carcinogenesis. It has been demonstrated that the 462Val allele may be a risk factor in some oncological and other multifactorial diseases. …”
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Preclinical evaluation of avutometinib and defactinib in high‐grade endometrioid endometrial cancer by Tobias Max Philipp Hartwich, Miranda Mansolf, Cem Demirkiran, Michelle Greenman, Stefania Bellone, Blair McNamara, Shuvro P. Nandi, Ludmil B. Alexandrov, Yang Yang‐Hartwich, Silvia Coma, Jonathan Pachter, Alessandro D. Santin

“…Abstract Background High‐grade endometrial cancers (EAC) are aggressive tumors with a high risk of progression after treatment. As EAC may harbor mutations in the RAS/MAPK pathways, we evaluated the preclinical in vitro and in vivo efficacy of avutometinib, a RAF/MEK clamp, in combination with the focal adhesion kinase (FAK) inhibitors defactinib or VS‐4718, against multiple primary EAC cell lines and xenografts. …”
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YHSeqY3000 panel captures all founding lineages in the Chinese paternal genomic diversity database by Mengge Wang, Shuhan Duan, Qiuxia Sun, Kaijun Liu, Yan Liu, Zhiyong Wang, Xiangping Li, Lanhai Wei, Yunhui Liu, Shengjie Nie, Kun Zhou, 10K_CPGDP consortium, Yongxin Ma, Huijun Yuan, Bing Liu, Lan Hu, Chao Liu, Guanglin He

“…Objectives This study aimed to develop the highest-resolution Y-targeted sequencing panel, utilizing time-stamped, core phylogenetic informative mutations identified from high-coverage sequences in the YanHuang cohort. …”
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Genomic data suggest parallel dental vestigialization within the xenarthran radiation by Emerling, Christopher A, Gibb, Gillian C, Tilak, Marie-Ka, Hughes, Jonathan J, Kuch, Melanie, Duggan, Ana T, Poinar, Hendrik N, Nachman, Michael W, Delsuc, Frédéric

“…We tested these competing hypotheses by examining 11 core dental genes in most living species of Xenarthra, characterizing shared inactivating mutations and patterns of relaxed selection during their radiation. …”
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Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome by May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group

“…Abstract Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. …”
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CD36 inhibition enhances the anti-proliferative effects of PI3K inhibitors in PTEN-loss anti-HER2 resistant breast cancer cells by You-Yu Liu, Wei-Lun Huang, Sin-Tian Wang, Hui-Ping Hsu, Tzu-Ching Kao, Wei-Pang Chung, Kung-Chia Young

“…However, subsequent reprogramed tumor progression due to PI3K signaling pathway activation by PIK3CA mutations and/or PTEN-loss cause anti-HER2 resistance. …”
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Comparative cytogenetics of anembryonic pregnancies and missed abortions in human by T. V. Nikitina, E. A. Sazhenova, E. N. Tolmacheva, N. N. Sukhanova, S. A. Vasilyev, I. N. Lebedev

“…Thus, although the frequencies of some types of chromosomal pathology differ between AP and MA, the total frequency of chromosomal abnormalities in AP is not increased compared to MA, which indicates the need to search for the causes of AP at other levels of the genome organization, including microstructural chromosomal rearrangements, monogenic mutations, imprinting disorders, and epigenetic abnormalities.…”
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Predictive value of dendritic cell-related genes for prognosis and immunotherapy response in lung adenocarcinoma by Zihao Sun, Mengfei Hu, Xiaoning Huang, Minghan Song, Xiujing Chen, Jiaxin Bei, Yiguang Lin, Size Chen

“…We found that patients with a high-DCRGS score had immunosuppression, activated tumor-associated pathways, and elevated somatic mutational load and copy number variant load. In contrast, patients in the low-DCRGS subgroup were resistant to chemotherapy but sensitive to the CTLA-4 immune checkpoint inhibitor and targeted therapy. …”
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