TRIM25: A Global Player of Cell Death Pathways and Promising Target of Tumor-Sensitizing Therapies by Wolfgang Eberhardt, Usman Nasrullah, Josef Pfeilschifter

“…., acquired by random mutations, cancer cells typically escape from certain treatments (“acquired resistance”) by a large variety of means, including suppression of apoptosis and other cell death pathways via upregulation of anti-apoptotic factors or through inhibition of tumor-suppressive proteins. …”
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DICER1: The Argonaute Endonuclease Family Member and Its Role in Pediatric and Youth Pathology by Consolato M. Sergi, Fabrizio Minervini

“…Numerous studies have determined the full range of DICER1 functions and the corresponding relationship to tumorigenic and non-neoplastic diseases. In fact, genetic mutations (somatic and germline) have been detected in <i>DICER1</i> and are genetically associated with at least two clinical syndromes: DICER1 syndrome and GLOW syndrome. …”
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Interaction of Cu(II) and Ni(II) with Ypk9 Protein Fragment via NMR Studies by Massimiliano Francesco Peana, Serenella Medici, Alessia Ledda, Valeria Marina Nurchi, Maria Antonietta Zoroddu

“…Ypk9 showed manganese detoxification role, preventing a Mn-induced Parkinsonism (PD) besides mutations in Park9, linked to a juvenile form of the disease. …”
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Prenatal Identification and Molecular Characterization of Two Simultaneous De Novo Interstitial Duplications of Chromosomal Regions 7p22.1p21.1 and 15q24.1 by Sabrina C. Burn, Kali Swift, Maria Palmquist

“…Parental chromosomal analysis did not identify any heritable changes, suggesting both mutations were de novo in nature. Postnatal examination of the neonate was significant for low set ears, thick helices, flat nasal bridge, ankyloglossia, and aberrant head shape and size concerning for craniosynostosis. …”
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Improved constructs for bait RNA display in a bacterial three-hybrid assay by Linh D. Nguyen, Hannah LeBlanc, Katherine E. Berry

“…This system offers a straightforward path to identify and assess the consequences of mutations in RBPs with molecular phenotypes of interest. …”
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The impact of PD-L1 polymorphisms on the efficacy of immune checkpoint inhibitors depends on the tumor proportion score: a retrospective study by Keiichiro Suminaga, Takashi Nomizo, Hironori Yoshida, Hiroaki Ozasa

“…We retrospectively extracted data on age, sex, smoking history, driver mutations, TPS, progression-free survival (PFS), and best response to ICI from medical records. …”
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Generation of IgM+ B cell-deficient Atlantic salmon (Salmo salar) by CRISPR/Cas9-mediated IgM knockout by Mari Raudstein, Ma. Michelle D. Peñaranda, Erik Kjærner-Semb, Søren Grove, H. Craig Morton, Rolf Brudvik Edvardsen

“…High-throughput sequencing revealed an average mutagenesis efficiency of 97% across both loci, with a predominance of frameshift mutations (78%). Gene expression analyses demonstrated significantly reduced membrane-bound IgM mRNA levels in head kidney and spleen tissues. …”
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Genetic Analysis of Sodium Channel Genes in Pediatric Epilepsy Patients of Pakistan by Aqsa Ashfaq, Tayyaba Saleem, Nadeem Sheikh, Hafsa Maqbool

“…The polymorphic sites rs794726754, rs1057518252, rs121918809, rs12191792, rs121917932, c.730 G > T, c.735 G > T, c.736 A > T, rs10167228, and rs2298771 of the SCN1A gene and rs17183814 of SCN2A gene were selected for mutational analysis. The DNA was isolated, amplified by PCR, and then, was run through 1% agarose gel. …”
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Second-generation BRAF inhibitor Encorafenib resistance is regulated by NCOA4-mediated iron trafficking in the drug-resistant malignant melanoma cells by Ceyda Colakoglu Bergel, Isil Ezgi Eryilmaz, Gulsah Cecener, Unal Egeli

“…Abstract The current study established the first in vitro Encorafenib resistance protocol in BRAF-mutated malignant melanoma (MM) cells and investigated the resistance-related mechanisms. …”
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Aweak phenotype associated with novel ABO*A allele variant c.106delinsGG by Sanmukh Ratilal Joshi, Glenda Millard, Mayuri Vekariya, Priya Radadiya, Manisha Rajapara, Hiren Dhanani, Gaurav Shastri, Prabhat Sharma, Brett Wilson, Yew-Wah Liew

“…BACKGROUND AND OBJECTIVES: Discrepancy between forward and reverse ABO grouping could be due to several reasons including genetic mutations of the alleles encoding group specific transferase. …”
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Comprehensive Analysis of microRNA Methylation Profiles and Determination of Their Functional Significance in Colorectal Cancer: A Study Protocol by Nurul Syakima Ab Mutalib, Imilia Ismail, Muhammad Redha Abdullah Zawawi, Nadiah Abu, Siti Aishah Sulaiman, Loh Teng-Hern Tan, Learn-Han Lee

“…Methylation signifies a major transformation in cancer detection, as widespread epigenetic changes could potentially provide superior early-stage cancer detection and classification compared to somatic mutations. Effective CRC diagnosis ensures timely and appropriate treatment for patients, thereby improving their quality of life. …”
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Grape breeding is a key link in the development of the grapes and wine-making industry by E. A. Egorov

“…The necessity of accelerating breeding processes is actualized, modern methods are identified, including those of generative and genomic selection, transgenic technologies, cellular, mutational, and clone selection, and priority areas in breeding are presented. …”
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SARS-CoV-2 Genome-Based Severity Predictions Correspond to Lower qPCR Values and Higher Viral Load by Martin Skarzynski, Erin M. McAuley, Ezekiel J. Maier, Anthony C. Fries, Jameson D. Voss, Richard R. Chapleau

“…The 2019 coronavirus disease (COVID-19) pandemic has demonstrated the importance of predicting, identifying, and tracking mutations throughout a pandemic event. As the COVID-19 global pandemic surpassed one year, several variants had emerged resulting in increased severity and transmissibility. …”
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Constitutional Nephrin Deficiency in Conditionally Immortalized Human Podocytes Induced Epithelial-Mesenchymal Transition, Supported by β-Catenin/NF-kappa B Activation: A Consequen... by Gian Marco Ghiggeri, Maddalena Gigante, Armando Di Donato

“…The kidney glomerular podocytes are the cellular target of many chronic nephropathies both determined and acquired genetically. Mutations that affected the expression and/or the function of nephrin, a key component of the slit-diaphragm, are often causes of these pathologies. …”
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Insight of microRNA role in Colorectal Cancer by Kwan-Liang Lye, Loh Teng-Hern Tan, Hui-Min Yap

“…Numerous factors could contribute towards colorectal carcinogenesis and one of the factors is genetic predisposition. Mutations in the V-KiRas2 (Kras) oncogene have been implicated in 30-50% of the colorectal cancer patients and usually lead to poorer prognosis. …”
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Evolution of SARS-CoV-2 in white-tailed deer in Pennsylvania 2021-2024. by Andrew D Marques, Matthew Hogenauer, Natalie Bauer, Michelle Gibison, Beatrice DeMarco, Scott Sherrill-Mix, Carter Merenstein, Ronald G Collman, Roderick B Gagne, Frederic D Bushman

“…Multiple examples of recurrent mutations were identified associated with transmissions, suggesting WTD-specific evolutionary pressures. …”
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Vascular Pathology in Alpha 1 Antitrypsin Deficient Chronic Obstructive Pulmonary Disease and Emphysema Patients: Case Reports by Gordon M, Gangemi AJ, Sandwith EL, Kumaran M, Kueppers F

“…Matthew Gordon,1,&ast; Andrew J Gangemi,1,&ast; Eric L Sandwith,2,&ast; Maruti Kumaran,3,&ast; Friedrich Kueppers1,&ast; 1Department of Thoracic Medicine and Surgery, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA; 2HCA Florida Heart and Lung, Fort Walton-Destin Hospital, Wright, FL, USA; 3Department of Radiology, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA&ast;These authors contributed equally to this workCorrespondence: Friedrich Kueppers, Department of Thoracic Medicine and Surgery, Lewis Katz School of Medicine at Temple University, Philadelphia, PA, USA, Email friedrich.kueppers@tuhs.temple.eduAbstract: Alpha 1 Antitrypsin Deficiency (AATD) is a genetic condition that results from mutations in the SERPINA1 gene, which can lead to deficient or dysfunctional Alpha 1 Antitrypsin (AAT) protein production. …”
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Interaction of toll-like receptors and ACE-2 with different variants of SARS-CoV-2: A computational analysis by Azadeh Zahmatkesh, Elham Salmasi, Reza Gholizadeh

“…Our results emphasize the importance of ACE2 and TLR4, rather than endosomal TLRs, in mediating the effects of different viral mutations and suggest their potential therapeutic applications.…”
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Chromatin remodeling in oligodendrogenesis by E. V. Antontseva, N. P. Bondar

“…Changes in the type, position, and local density of nucleosomes require the action of specialized ATP-dependent chromatin-remodeling complexes, which use the energy of ATP hydrolysis for their activity. Mutations in the genes encoding proteins of the remodeling complexes are often accompanied by serious disorders at early stages of embryogenesis and are frequently identified in various cancers. …”
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A versatile site-directed gene trap strategy to manipulate gene activity and control gene expression in Caenorhabditis elegans. by Haania Khan, Xinyu Huang, Vishnu Raj, Han Wang

“…While several genetic tools for modifying genes or controlling expression separately are available for Caenorhabditis elegans, there are no genetic approaches to generate mutations that simultaneously disrupt gene function and provide genetic access to the cells expressing the disrupted gene. …”
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