Developmental and Epileptic Encephalopathy: Pathogenesis of Intellectual Disability Beyond Channelopathies by Alexandra D. Medyanik, Polina E. Anisimova, Angelina O. Kustova, Victor S. Tarabykin, Elena V. Kondakova

“…Pathogenic variants are found in 30–50% of patients with DEE. Many genes mutated in DEEs encode ion channels, causing current conduction disruptions known as channelopathies. …”
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Mixed Gastric Carcinomas Show Similar Chromosomal Aberrations in Both their Diffuse and Glandular Components by Beatriz Carvalho, Tineke E. Buffart, Rui M. Reis, Thomas Mons, Cátia Moutinho, Paula Silva, Nicole C. T. van Grieken, Heike Grabsch, Cornelis J. H. van de Velde, Bauke Ylstra, Gerrit A. Meijer, Fátima Carneiro

“…To the best of our knowledge only E-Cadherin mutations were implicated so far in the divergence of these tumours and nothing is known about the involvement of chromosome copy number changes in the two divergent histological components. …”
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Targeting the 8-oxodG Base Excision Repair Pathway for Cancer Therapy by Anna Piscone, Francesca Gorini, Susanna Ambrosio, Anna Noviello, Giovanni Scala, Barbara Majello, Stefano Amente

“…Genomic integrity is critical for cellular homeostasis, preventing the accumulation of mutations that can drive diseases such as cancer. Among the mechanisms safeguarding genomic stability, the Base Excision Repair (BER) pathway plays a pivotal role in counteracting oxidative DNA damage caused by reactive oxygen species. …”
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CPSF6-RARγ interacts with histone deacetylase 3 to promote myeloid transformation in RARG-fusion acute myeloid leukemia by Tianhui Liu, Tanzhen Wang, Lijuan Qi, Yujie Liu, Meng Shan, Fuqiang Wang, Yanglan Fang, Sining Liu, Lijun Wen, Suning Chen, Depei Wu, Yang Xu

“…Here, using the most prevalent RARG fusion, CPSF6-RARG (CR), as a representative, we reveal that the CR fusion, enhances the expansion of myeloid progenitors, impairs their maturation and synergizes with RAS mutations to drive more aggressive myeloid malignancies. …”
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Defining candidate drug characteristics for Long-QT (LQT3) syndrome by Aslak Tveito, Glenn T. Lines, Pan Li, Andrew McCulloch

“…Mutations of the SCN5A gene can significantly alter the function of cardiac myocyte sodium channels leading to increased risk of ventricular arrhythmia. …”
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The impact of social complexity on the efficacy of natural selection in termites by Roux, Camille, Ha, Alice, Weyna, Arthur, Lode, Morgan, Romiguier, Jonathan

“…First, by analyzing transcriptome data from 66 Blattodea species, we focus on the ratio of non-synonymous to synonymous mutations dN/dS as a marker of natural selection efficiency and effective population size. …”
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The Essential Thrombocythemia, Thrombotic Risk Stratification, and Cardiovascular Risk Factors by Salvatrice Mancuso, Vincenzo Accurso, Marco Santoro, Simona Raso, Angelo Davide Contrino, Alessandro Perez, Florinda Di Piazza, Ada Maria Florena, Antonio Russo, Sergio Siragusa

“…In our study, we compared different risk models to estimate the thrombotic risk of 233 ET patients and the role of specific driver mutations and evaluated the impact that conventional cardiovascular risk factors (hypertension, cigarette smoking, diabetes, obesity, and dyslipidaemia) have on thrombotic risk in patients with ET. …”
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Regulation of stress granule maturation and dynamics by poly(ADP-ribose) interaction with PARP13 by Shang-Jung Cheng, Temitope Gafaar, Jijin R. A. Kuttiyatveetil, Aleksandr Sverzhinsky, Carla Chen, Minghui Xu, Allison Lilley, John M. Pascal, Anthony K. L. Leung

“…Here, we demonstrate that PAR-mediated interactions through PARP13, specifically the PARP13.2 isoform, are essential for modulating the dynamics of stress granules—a class of cytoplasmic condensates that form upon stress, including types frequently observed in cancers. Single amino acid mutations in PARP13, which reduce its PAR-binding activity, lead to the formation of smaller yet more numerous stress granules than observed in the wild-type. …”
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Clinical Significance and Characterization of AZT-Resistant Strains of HIV-1 by Mark A Wainberg, Ronald Rooke, Michel Tremblay, XuGuang Li, Michael A Parniak, Qing Gao, Xiao-Jian Yao, Chris Tsoukas, JSG Montaner, M Fanning, J Ruedy

“…Most of the evidence points to a series of mutations within the polymerase gene of HIV-1, which encodes viral reverse transcriptase, as being responsible for development of the drug-resistant phenotype. …”
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Fully automated extraction of high-quality total nucleic acids from FFPE specimens for comprehensive genomic profiling of solid tumors by Kristopher Amirault, Michael Collins, Luca Beker, Brandon Mills, Martina Werner, Jonathan Andreas, Daniel Hartman, Jordan Dargert, Vanessa Process, Sean Cederlund, Thuy Dao, Linnea Menin, Molly Ferrara, Andrew Briggs, Joshua Shreve, Daniel Metzger, Angela Stout, Erin Deblasi, Jie An, Taylor Jensen, Shengle Zhang, Vinesh Rana, Bryn Burlingame, Ulrich Thomann, Durga Prasad Dash, Sha Liao, Jeffrey M. Conroy, Eugenio Daviso

“…By identifying actionable mutations through next-generation sequencing of solid tumors CGP enables targeted therapy decisions. …”
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Recent Insights into Antibiotic Resistance in Helicobacter pylori Eradication by Wenming Wu, Yunsheng Yang, Gang Sun

“…Many factors have been implicated as causes of treatment failure, but the main antibiotic resistance mechanisms described to date are due to point mutations on the bacterial chromosome, a consequence of a significantly phenotypic variation in H. pylori. …”
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TDP-43 nuclear retention is antagonized by hypo-phosphorylation of its C-terminus in the cytoplasm by Célia Rabhi, Nicolas Babault, Céline Martin, Bénédicte Desforges, Alexandre Maucuer, Vandana Joshi, Serhii Pankivskyi, Yitian Feng, Guillaume Bollot, Revital Rattenbach, David Pastré, Ahmed Bouhss

“…Importantly, we have analyzed specifically the self-assembly of full-length TDP-43 and its mRNA binding that are regulated by the phosphorylation of its self-adhesive C-terminus, which is the recipient of many pathological mutations. We show that C-terminus phosphorylation prevents the recruitment of TDP-43 in mRNA-rich stress granules only under acute stress conditions because of a low affinity for mRNA but not under mild stress conditions. …”
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Identification of RNA Editing Sites Reveals Functional Modifications with the Addition of Methionine to the Daily Rations of Yaks by Shiyu Wu, Xinrui Liu, Yaxin Liu, Shikai Wang, Wei Peng, Ming Zhang, Binglin Yue, Hui Wang, Jikun Wang, Jincheng Zhong, Fang Sun, Yixi Kangzhu, Jiabo Wang

“…A total of 1116 editing sites were identified by at least two software; the editing site types were mainly T-to-C and A-to-G mutations. We found two significant RNA editing sites presenting high-risk editing types. …”
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Costello Syndrome and Umbilical Ligament Rhabdomyosarcoma in Two Pediatric Patients: Case Reports and Review of the Literature by Carlos Sánchez-Montenegro, Alejandra Vilanova-Sánchez, Saturnino Barrena-Delfa, Jair Tenorio, Fernando Santos-Simarro, Sixto García-Miñaur, Pablo Lapunzina, Leopoldo Martínez-Martínez

“…Costello syndrome is caused by heterozygous de novo missense mutations in the protooncogene HRAS with tumor predisposition, especially rhabdomyosarcoma. …”
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Skeletal Muscle Mitochondria and Aging: A Review by Courtney M. Peterson, Darcy L. Johannsen, Eric Ravussin

“…Animal and human studies typically show that skeletal muscle mitochondria are altered with aging, including increased mutations in mitochondrial DNA, decreased activity of some mitochondrial enzymes, altered respiration with reduced maximal capacity at least in sedentary individuals, and reduced total mitochondrial content with increased morphological changes. …”
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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

“…However, cancer cells also utilize DNA-based strategies, often perceived as slow, irreversible changes like point mutations or drug-resistant clone selection. Extrachromosomal DNA (ecDNA), in contrast, represents a rapid, reversible, and predictable DNA alteration critical for cancer’s adaptive response.MethodsIn this study, we developed a novel post-processing pipeline for automated detection and quantification of ecDNA in metaphase Fluorescence in situ Hybridization (FISH) images, leveraging the Microscopy Image Analyzer (MIA) tool. …”
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Stem Cell Hierarchy and Clonal Evolution in Acute Lymphoblastic Leukemia by Fabian Lang, Bartosch Wojcik, Michael A. Rieger

“…In the clonal evolution model, a consecutive accumulation of mutations starting in a single cell results in competitive growth of subclones with divergent fitness in either a linear or a branching succession. …”
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Late-Onset Isolated Corticotrope Deficiency in a Woman with Down Syndrome by Ibtissem Oueslati, Marwa Ben Jemaa, Meriem Yazidi, Fatma Chaker, Melika Chihaoui

“…Genetic analysis showed no mutations and no copy number variants of the TBX19 and NFKB2 genes. …”
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Resolution of Mild Ganciclovir-Resistant Cytomegalovirus Disease with Reduced-Dose Cidofovir and CMV-Hyperimmune Globulin by Samir J. Patel, Samantha A. Kuten, Richard J. Knight, Dana M. Hong, A. Osama Gaber

“…All patients initially developed “breakthrough” viremia while still receiving valganciclovir prophylaxis after transplant and were later confirmed to exhibit UL97 mutations after failing to eradicate virus on adequate dosages of valganciclovir. …”
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A Large PROP1 Gene Deletion in a Turkish Pedigree by Suheyla Gorar, Doga Turkkahraman, Kanay Yararbas

“…This finding is in line with the fact that patients with PROP1 mutations may have different phenotype/genotype correlation.…”
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