Neoantigen-specific stimulation of tumor-infiltrating lymphocytes enables effective TCR isolation and expansion while preserving stem-like memory phenotypes by Yong Li, Steven A Rosenberg, Paul F Robbins, Zhiya Yu, Maria Parkhurst, Billel Gasmi, Nikolaos Zacharakis, Todd D Prickett, Jared J Gartner, Sri Krishna, Stephanie L Goff, Satyajit Ray, Frank J Lowery, Sivasish Sindiri, Alakesh Bera, Noam Levin, Sanghyun P Kim, Charles A Marquardt, Nolan R Vale, Lior Levy, Tiffany Benzine, Robert V Masi, Rafiqul Islam

“…Furthermore, neoantigenic stimulation improved the in vivo antitumor efficacy of TILs relative to the conventional OKT3-induced rapid TIL expansion in p53-mutated or KRAS-mutated xenograft mouse models.Conclusions Taken together, neoantigenic stimulation of TILs selectively expands neoantigen-reactive TILs by frequencies and by their clonal repertoire. …”
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Telomerase RNA structural heterogeneity in living human cells detected by DMS-MaPseq by Nicholas M. Forino, Jia Zheng Woo, Arthur J. Zaug, Arcelia Gonzalez Jimenez, Eva Edelson, Thomas R. Cech, Silvi Rouskin, Michael D. Stone

“…Here, we probe hTR structure in living cells using dimethyl sulfate mutational profiling with sequencing (DMS-MaPseq) and ensemble deconvolution analysis. …”
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Mitochondrial Fusion Proteins and Human Diseases by Michela Ranieri, Simona Brajkovic, Giulietta Riboldi, Dario Ronchi, Federica Rizzo, Nereo Bresolin, Stefania Corti, Giacomo P. Comi

“…Alterations in mitochondrial dynamics due to mutations in proteins involved in the fusion-fission machinery represent an important pathogenic mechanism of human diseases. …”
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D-2-hydroxyglutarate impairs DNA repair through epigenetic reprogramming by Fengchao Lang, Karambir Kaur, Haiqing Fu, Javeria Zaheer, Diego Luis Ribeiro, Mirit I. Aladjem, Chunzhang Yang

“…Abstract Cancer-associated mutations in IDH are associated with multiple types of human malignancies, which exhibit distinctive metabolic reprogramming, production of oncometabolite D-2-HG, and shifted epigenetic landscape. …”
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Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy by Mehmet Sinan Beksac, Atakan Tanacan, Duygu Aydin Hakli, Gokcen Orgul, Burcu Soyak, Burcu Balci Hayta, Pervin Dincer, Haluk Topaloğlu

“…To show the importance of prenatal diagnosis of Duchenne Muscular Dystrophy (DMD) and to demonstrate the effect of DMD gene mutations on gestational outcomes. Materials and Methods. …”
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Concordance of Peripheral Blood and Bone Marrow Next-Generation Sequencing in Hematologic Neoplasms by Chayanit Jumniensuk, Alexander Nobori, Thomas Lee, T. Niroshi Senaratne, Dinesh Rao, Sheeja Pullarkat

“…Objective. Mutational analysis by next-generation sequencing (NGS) obtained by peripheral blood NGS has been of clinical interest to use as a minimally invasive screening tool. …”
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Inhibition of mutagenic activation of orthoaminoazotoluene increases its carcinogenicity for mouse liver by V. I. Kaledin, L. P. Ovchinnikova, S. I. Ilnitskaya, T. S. Morozkova, N. A. Popova

“…Various mutationally impaired genes are often found in malignant tumors of animals and humans. …”
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Development of a Semiconductor Sequencing-based Panel for Screening Individuals with Lynch Syndrome by Ryia-Illani Mohd Yunos, Nurul-Syakima Ab Mutalib, Janice Khor Sheau Sean, Sazuita Saidin, Mohd Ridhwan Abd Razak, Isa Md. Rose, Ismail Sagap, Luqman Mazlan, Rahman Jamal

“… Lynch syndrome is a genetic disorder associated with mutations in mismatch repair (MMR) genes that are linked to the development of colorectal cancer. …”
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MONet: cancer driver gene identification algorithm based on integrated analysis of multi-omics data and network models by Yingzan Ren, Tiantian Zhang, Jian Liu, Fubin Ma, Jiaxin Chen, Ponian Li, Guodong Xiao, Chuanqi Sun, Yusen Zhang

“…Cancer progression is orchestrated by the accrual of mutations in driver genes, which endow malignant cells with a selective proliferative advantage. …”
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Conditions for maintaining and eroding pseudo-overdominance and its contribution to inbreeding depression by Abu-Awad, Diala, Waller, Donald

“…Classical models that ignore linkage predict that deleterious recessive mutations should purge or fix within inbred populations, yet inbred populations often retain moderate to high segregating load. …”
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A Dynamic Model of Information-Vaccination-Disease That Accounts for Emerging Viral Variants: Model Development and a Case Study for COVID-19 in Iceland by Laijun Zhao, Mingmin Ying, Ying Qian, Lixin Zhou, Pingle Yang

“…Pathogens mutate as diseases spread, and variants that become epidemic or pandemic strains have higher transmission rates and a greater capacity to escape vaccine protection. …”
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Phage-mediated virulence loss and antimicrobial susceptibility in carbapenem-resistant Klebsiella pneumoniae by Yanshuang Yu, Mengzhu Wang, Liuying Ju, Minchun Li, Mengshi Zhao, Hui Deng, Christopher Rensing, Qiu E. Yang, Shungui Zhou

“…Specifically, Kp2092 rapidly developed resistance to phages through mutations in a key phage receptor (galU) and bacterial membrane defenses such as LPS synthesis, however, this evolution coincides with unexpected benefits. …”
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Novel Prognostic Factors Associated with Cell Cycle Control in Sporadic Medullary Thyroid Cancer Patients by Raffaele Pezzani, Loris Bertazza, Elisabetta Cavedon, Simona Censi, Jacopo Manso, Sara Watutantrige-Fernando, Gianmaria Pennelli, Francesca Galuppini, Susi Barollo, Caterina Mian

“…Results. RET somatic mutations were found in 48% of the patients (34/71). …”
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Multiple Coronary Artery Microfistulas in a Girl with Kleefstra Syndrome by Euthymia Vargiami, Athina Ververi, Hamda Al-Mutawa, Georgia Gioula, Spyridon Gerou, Fotios Rouvalis, Marios Kambouris, Dimitrios I. Zafeiriou

“…It is caused by 9q34.3 microdeletions or EHMT1 mutations. Herein a 20-month-old girl with Kleefstra syndrome, due to a de novo subterminal deletion, is described. …”
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Gamma Irradiation of Plukenetia volubilis L. Seeds Promotes Several Changes during Its Germination and Vegetative Growth by Mike Anderson Corazon-Guivin, Sofia Rengifo-Del Aguila, Angel David Hernández-Amasifuen, Víctor Manuel Arévalo-Rojas, Ronny Anthony Acosta-Córdova, Agustín Cerna-Mendoza, Thiago de Araújo Mastrangelo, Jorge Damian Valverde-Iparraguirre, Juan Carlos Guerrero-Abad

“…The establishment of genetic variability, through spontaneous mutations or induced mutations, can bring desirable and undesirable agronomic traits. …”
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M1 and M2 Functional Imprinting of Primary Microglia: Role of P2X7 Activation and miR-125b by Chiara Parisi, Giulia Napoli, Pablo Pelegrin, Cinzia Volonté

“…Amyotrophic lateral sclerosis (ALS) is a most frequently occurring and severe form of motor neuron disease, causing death within 3–5 years from diagnosis and with a worldwide incidence of about 2 per 100,000 person-years. Mutations in over twenty genes associated with familial forms of ALS have provided insights into the mechanisms leading to motor neuron death. …”
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A Precocious Cerebellar Ataxia and Frequent Fever Episodes in a 16-Month-Old Infant Revealing Ataxia-Telangiectasia Syndrome by Luigi Nespoli, Annapia Verri, Silvia Tajè, Francesco Paolo Pellegrini, Maddalena Marinoni

“…The characterization of the ATM gene mutations revealed 2 specific mutations (c.5692C > T/c.7630-2A > C) compatible with AT diagnosis. …”
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AMPK: An energy sensor for non-small cell lung cancer progression and treatment by Zhi-Ting Zhong, Xu-Yan Wang, Ying Pan, Ke Zhou, Jing-Hui Chen, Yu-Qi Gao, Bo Dai, Zhi-Ling Zhou, Rui-Qi Wang

“…AMP-activated protein kinase (AMPK) is a key regulator of energy balance and homeostasis, and its dysregulation is a common feature in various malignancies, particularly in NSCLC with mutations in Liver kinase B1 (LKB1). Studies have shown that the AMPK signalling pathway has a dual role in NSCLC progression, both inhibiting and promoting the progression of malignant tumours. …”
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Altered Mitochondrial Respiration and Other Features of Mitochondrial Function in Parkin-Mutant Fibroblasts from Parkinson’s Disease Patients by William Haylett, Chrisna Swart, Francois van der Westhuizen, Hayley van Dyk, Lize van der Merwe, Celia van der Merwe, Ben Loos, Jonathan Carr, Craig Kinnear, Soraya Bardien

“…Mutations in the parkin gene are the most common cause of early-onset Parkinson’s disease (PD). …”
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Evaluating Neural Network Performance in Predicting Disease Status and Tissue Source of JC Polyomavirus from Patient Isolates Based on the Hypervariable Region of the Viral Genome by Aiden M. C. Pike, Saeed Amal, Melissa S. Maginnis, Michael P. Wilczek

“…These models can improve viral sequence identification and provide insights into viral mutations and pathogenesis.…”
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