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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Case report: Atypical young case of MV1 Creutzfeldt-Jakob disease with unusually long survival by Lucie Yeongran Ahn, Mark L. Cohen, Mark L. Cohen, Ignazio Cali, Ignazio Cali, Tia Russell, Jessica Ludwig, Xun Jia, Alberto Bizzi, Lawrence B. Schonberger, Ryan A. Maddox, Rohini Paul, Tania C. Ghazarian, Jaspreet Garcha, Mostafa Hammoudi, Brian Stephen Appleby, Brian Stephen Appleby, Brian Stephen Appleby, Brian Stephen Appleby

“…Absence of pathogenic mutations and methionine/valine heterozygosity at codon 129 of the prion protein gene (PRNP), atypical type 1 protease-resistant PrP that lacks or shows underrepresentation of the diglycosylated PrP isoform by western blot analysis, and no acquired prion disease risk factors resulted in a final diagnosis of atypical sCJD. …”
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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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The Utah Population Database. A Model for Linking Medical and Genealogical Records for Population Health Research by Ken R. Smith, Alison Fraser, Diana Lane Reed, Jahn Barlow, Heidi A. Hanson, Jennifer West, Stacey Knight, Navina Forsythe, Geraldine P. Mineau

“…Genetic researchers have used UPDB to identify and study individuals and families that have higher than normal incidence of diseases or other traits, to analyze patterns of genetic inheritance, and to identify specific genetic mutations. Demographers and other social scientists are increasingly using the UPDB to study issues such as trends in fertility transitions and shifts in mortality patterns for both infants and adults. …”
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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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Pembrolizumab plus Pemetrexed and Platinum in Metastatic Non-Squamous Non-Small Cell Lung Cancer: A Real-Life Study at a Portuguese Centre by Maria João Santos, Filipa Ferro, Andrea Machado, Ana Sofia Vilariça, Direndra Hasmucrai, Paula Alves

“… First-line therapy for metastatic non-small-cell lung cancer without targetable mutations is platinum-based chemotherapy plus pembrolizumab if programmed death ligand 1 is < 50%. …”
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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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RNA sequence analysis landscape: A comprehensive review of task types, databases, datasets, word embedding methods, and language models by Muhammad Nabeel Asim, Muhammad Ali Ibrahim, Tayyaba Asif, Andreas Dengel

“…Aberrations in RNA sequence such as dysregulation and mutations can drive a diverse spectrum of diseases including cancers, genetic disorders, and neurodegenerative conditions. …”
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Molecular Epidemiology and Genetic Evolution of Porcine Reproductive and Respiratory Syndrome Virus in Northern China During 2021–2023 by Na Yuan, Zuofeng Yang, Fengxia Lv, Lina Dou, Xiangqing Li, Baokai Zhao, Shishan Dong

“…L1.8 and L1.5 showed considerable polymorphism at decoy and neutralizing epitopes. Mutations of specific amino acids were present in L1.8 and L1.5 at T- and B-cell epitopes. …”
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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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Prevalence of Fabry Disease among Patients with Parkinson’s Disease by Alexandra Lackova, Christian Beetz, Sebastian Oppermann, Peter Bauer, Petra Pavelekova, Tatiana Lorincova, Miriam Ostrozovicova, Kristina Kulcsarova, Jana Cobejova, Martin Cobej, Petra Levicka, Simona Liesenerova, Daniela Sendekova, Viktoria Sukovska, Zuzana Gdovinova, Vladimir Han, Mie Rizig, Henry Houlden, Matej Skorvanek

“…An increased prevalence of Parkinson’s disease (PD) disease has been previously reported in subjects with Fabry disease (FD) carrying alpha-galactosidase (GLA) mutations and their first-line relatives. Moreover, decreased alpha-galactosidase A (AGLA) enzymatic activity has been reported among cases with PD compared to controls. …”
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Neoadjuvant atezolizumab + chemotherapy for resectable NSCLC: 3-year clinical update of phase II clinical trial results and translational findings by Benjamin Izar, Justin F Gainor, Mark M Awad, Codruta Chiuzan, Anjali Saqi, Catherine A Shu, Katja Schulze, Brian S Henick, Naiyer A Rizvi, Samyukta Mallick, Yohanna Georgis, Peter D Koch, Stephanie Izard, Robert F Garofano, Cheryl V Wong, Jessica Grindheim, Joshua R Sonett, Alison M Taylor

“…Patients whose tumors had mutations in STK11 and KEAP1 did not have a significantly higher incidence of BM. …”
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Expert consensus on the benefits of neuraminidase in conventional influenza vaccines: a Delphi study by John Youhanna, Joan Puig-Barberà, Matthew S. Miller, Deborah Molrine, Monica Hadi, Shweta Bapat, Ike Iheanacho, Sophie Dodman, Tsion Fikre, Paul Swinburn, ADD-NA (Adding Neuraminidase) Delphi panel

“…Licensed influenza vaccines are regularly updated to account for viral mutations and antigenic drift and are standardised for their haemagglutinin content. …”
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Real-world clinical outcome of unresectable locally advanced & de-novo metastatic pancreatic ductal adenocarcinoma: a multicentre retrospective study by Mohamed Aseafan, Ali H. Alfakeeh, Emad Tashkandi, Mervat Mahrous, Mohammed Alghamdi, Bader Alshamsan, Marwan Al-Hajeili, Safwan Bakhsh, Kanan Alshammari, Fahad A. Almugbel, Abdulhameed H. Alfagih, Ahmed Allehebi, Mohamed Montaser, Mohamed Hamdy Elsafty, Khaled Abd Elaziz Elnaghi, Ibrahim Issa, Eesa Bakshi, Sadeem AlSubaie, Bandar AlMutairi, Hoda Mokhtar, Mohamed Aboelatta, Nedal Bukhari, Ali M. Alzahrani, Tusneem Elhassan, Ali Alqahtani, Shouki Bazarbashi

“…Among patients tested, 7.1% had deficient mismatch repair (d-MMR), and 5.8% harbored BRCA mutations. Conclusions This real-world study confirms that clinical outcomes for locally advanced unresectable and metastatic PDAC in Saudi Arabia are consistent with international data, with FOLFIRINOX showing superior outcomes over gemcitabine-based regimens. …”
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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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Lake Baikal amphipods and their genomes, great and small by P. B. Drozdova, E. V. Madyarova, A. N. Gurkov, A. E. Saranchina, E. V. Romanova, J. V. Petunina, T. E. Peretolchina, D. Y. Sherbakov, M. A. Timofeyev

“…Studies of mitochondrial genomes revealed some unusual features, such as variation in length and gene order, as well as duplications of tRNA genes, some of which also underwent remolding (change in anticodon specificity due to point mutations). The next important steps should be (i) the assembly of whole genomes for different species of Baikal amphipods, which is at the moment hampered by complicated genome structures with high repeat content, and (ii) updating species taxonomy taking into account all the data.…”
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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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Assessment of Antibiotic Resistance and Efflux Pump Gene Expression in Neisseria Gonorrhoeae Isolates from South Africa by Quantitative Real-Time PCR and Regression Analysis by Nireshni Mitchev, Ravesh Singh, Veron Ramsuran, Arshad Ismail, Mushal Allam, Stanford Kwenda, Florah Mnyameni, Nigel Garrett, Khine Swe Swe-Han, Abraham J. Niehaus, Koleka P. Mlisana

“…Whole-genome sequencing was used to determine the presence or absence of mutations. Results. N. gonorrhoeae isolates, from female and male patients presenting for care at clinics in KwaZulu-Natal, South Africa, were analysed. …”
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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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