Leveraging mRNA technology for antigen based immuno-oncology therapies by Wei Zheng, Michele Ceccarelli, Charalampos S Floudas, Siranush Sarkizova

“…Tumor neoantigens are de novo epitopes derived from somatic mutations, avoiding T-cell central tolerance of self-epitopes and inducing immune responses to tumors. …”
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An untargeted metabolomic analysis of acute AFB1 treatment in liver, breast, and lung cells. by Heidi H Cao, Sabrina Molina, Susan Sumner, Blake R Rushing

“…The mechanism in which AFB1 causes genetic mutations has been well studied, however its metabolomic effects remained largely unknown. …”
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The Rise of SARS-CoV-2 Variants and the Role of Convalescent Plasma Therapy for Management of Infections by Keneth Iceland, Kasozi

“…The SARSCov- 2 virus has undergone multiple mutations since its emergence in 2019, resulting in changes in virulence that have impacted on disease severity globally. …”
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RAS, a Pentatricopeptide Repeat Protein, Interacts with OsTRX z to Regulate Chloroplast Gene Transcription and RNA Processing by Zhennan Qiu, Shiyong Wen, Peinan Sun, Dongdong Chen, Chunmiao Wang, Xiliang Song, Liying Xiao, Peiliang Zhang, Dongying Zhao, Cuiping Wen, Peiyan Guan, Xuechu Du, Yinghui Sun, Chenshan Xu, Jian Song

“…RAS localizes to the chloroplast and is predominantly expressed in young leaves. Mutations in <i>RAS</i> affect RNA editing at the <i>rpl2</i>, <i>rps14</i>, and <i>ndhA</i> sites, as well as RNA splicing at the <i>rpl2</i>, <i>atpF</i>, and <i>ndhA</i> transcripts within the chloroplast. …”
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Population genetics of spinoсerebellar ataxias caused by polyglutamine expansions by A. N. Shuvaev, O. S. Belozor, M. V. Smolnikova, D. A. Yakovleva, Andr. N. Shuvaev, O. M. Kazantseva, E. A. Pozhilenkova, O. I. Mozhei, S. Kasparov

“…This prevents long-term predictions of the dynamics of the disease and development of strategies for controlling the spread of mutations in the populations. In this paper we make a detailed analysis of the polyglutamine SCAs population genetics, both in the whole world and specifically in theRussian Federation. …”
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Selective JAK2 pathway inhibition enhances anti-leukemic functionality in CD19 CAR-T cells by Kohei Mitsuno, Masaya Suematsu, Yuki Naito, Azusa Mayumi, Hideki Yoshida, Shinya Osone, Toshihiko Imamura, Yozo Nakazawa, Shigeki Yagyu, Tomoko Iehara

“…This study explores the combinatorial use of a selective type II JAK2 inhibitor, CHZ868, with CD19 CAR-T cells, revealing a synergistic enhancement of anti-leukemic activity across B-cell tumor models irrespective of JAK2 mutational status. CHZ868-mediated JAK2 inhibition did not induce the exhaustion of CAR-T cells, maintaining efficacy over repeated tumor challenges and significantly extending survival in mouse models engrafted with JAK2 inhibitor-resistant leukemia cells (median survival, CD19 CAR-T + CHZ868 vs. …”
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Case report: Pseudoprogression mimicking neoplastic recurrence three months after completion of proton beam therapy for an IDH-mutant astrocytoma CNS WHO grade 3 by Liv Cathrine Heggebø, Liv Cathrine Heggebø, Ida Maria Henriksen Borgen, Ida Maria Henriksen Borgen, Hanne Blakstad, Hanne Blakstad, Cathrine Saxhaug, Pål André Rønning, Pitt Frederik Niehusmann, Katja Werlenius, Malin Blomstrand, Malin Blomstrand, Petter Brandal, Petter Brandal

“…BackgroundRadiation-induced changes following proton beam therapy in isocitrate dehydrogenase (IDH)-mutated diffuse central nervous system (CNS) World Health Organization (WHO) grade 2 and 3 gliomas are not well characterized. …”
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Genetic Rescue of the Dinaric Lynx Population: Insights for Conservation From Genetic Monitoring and Individual‐Based Modelling by Elena Pazhenkova, Matej Bartol, Barbara Boljte, Urša Fležar, Andrea Gazzola, Tomislav Gomerčić, Marjeta Konec, Ivan Kos, Miha Krofel, Jakub Kubala, Ladislav Paule, Mihai Pop, Hubert Potočnik, Barbara Promberger, Robin Rigg, Teodora Sin, Magda Sindičić, Vedran Slijepčević, Astrid Vik Stronen, Ira Topličanec, Tomaž Skrbinšek

“…ABSTRACT Inbreeding depression poses a severe threat to small populations, leading to the fixation of deleterious mutations and decreased survival probability. While the establishment of natural gene flow between populations is an ideal long‐term solution, its practical implementation is often challenging. …”
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Direct and Indirect Protein Interactions Link FUS Aggregation to Histone Post-Translational Modification Dysregulation and Growth Suppression in an ALS/FTD Yeast Model by Seth A. Bennett, Samantha N. Cobos, Raven M. A. Fisher, Elizaveta Son, Rania Frederic, Rianna Segal, Huda Yousuf, Kaitlyn Chan, David K. Dansu, Mariana P. Torrente

“…Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) are incurable neurodegenerative disorders sharing pathological and genetic features, including mutations in the <i>FUS</i> gene. FUS is an RNA-binding protein that mislocalizes to the cytoplasm and aggregates in ALS/FTD. …”
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A Newborn with Genital Ambiguity, 45,X/46,XY Mosaicism, a Jumping Chromosome Y, and Congenital Adrenal Hyperplasia by Lei Zhang, Linda D. Cooley, Sonal R. Chandratre, Atif Ahmed, Jill D. Jacobson

“…Molecular analysis revealed compound heterozygous mutations in the 21-hydroxylase gene (CYP21A2), confirming the diagnosis of CAH. …”
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Non-small cell lung cancer and the tumor microenvironment: making headway from targeted therapies to advanced immunotherapy by Anna De Lucia, Lucia Mazzotti, Lucia Mazzotti, Anna Gaimari, Anna Gaimari, Matteo Zurlo, Roberta Maltoni, Claudio Cerchione, Sara Bravaccini, Angelo Delmonte, Lucio Crinò, Patricia Borges de Souza, Luigi Pasini, Fabio Nicolini, Fabrizio Bianchi, Manel Juan, Hugo Calderon, Chiara Magnoni, Chiara Magnoni, Luca Gazzola, Luca Gazzola, Paola Ulivi, Massimiliano Mazza

“…Nowadays, targeted therapies remain the gold standard for many patients, but still they suffer from many adverse effects, including unexpected toxicity and intrinsic acquired resistance mutations, which lead to relapse. The adoption of immune checkpoint inhibitors (ICIs) in 2015, has offered exceptional survival benefits for patients without targetable alterations. …”
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Bruton’s tyrosine kinase inhibition re-sensitizes multidrug-resistant DLBCL tumors driven by BCL10 gain-of-function mutants to venetoclax by Caroline A. Coughlin, Dhanvantri Chahar, Marianna Lekakis, Abdessamad A. Youssfi, Lingxiao Li, Evan Roberts, Natalia Campos Gallego, Claude-Henry Volmar, Ola Landgren, Shaun Brothers, Anthony J. Griswold, Catalina Amador, Daniel Bilbao, Francesco Maura, Jonathan H. Schatz

“…Here, we build on recent findings implicating gain-of-function mutations in the BCL10 signaling protein as drivers of resistance to Bruton’s tyrosine kinase (BTK) inhibitors. …”
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RUBY® – a tetravalent (2+2) bispecific antibody format with excellent functionality and IgG-like stability, pharmacology and developability properties by Barnabas Nyesiga, Mattias Levin, Anna Säll, Anna Rosén, Kim Jansson, Sara Fritzell, Karin Hägerbrand, Dietmar Weilguny, Laura von Schantz

“…The RUBYTM format has a 2 + 2 geometry, where two Fab fragments are linked via their light chains to the C-termini of an IgG, and carries mutations for optimal chain pairing. The unique design enables generation of bsAbs with mAb-like attributes. …”
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Reduction of monoclonal antibody viscosity using interpretable machine learning by Emily K. Makowski, Hsin-Ting Chen, Tiexin Wang, Lina Wu, Jie Huang, Marissa Mock, Patrick Underhill, Emma Pelegri-O’Day, Erick Maglalang, Dwight Winters, Peter M. Tessier

“…Importantly, we show that the interpretable nature of the model enables the design of mutations that significantly reduce antibody viscosity, which we confirmed experimentally. …”
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Molecular characterization of feline caliciviruses isolated from several adult cats with atypical infection showing severe flu-like symptoms on a remote island in Ehime, Japan by Yuki Nishisaka, Hikaru Fujii, Fumiko Ono, Sho Kadekaru, Hiroyuki Kogiku, Yumi Une, Shione Takeguchi, Naomi Ohta, Masumi Eto, Chiharu Takeuchi, Seigou Takeuchi, Tetsuko Miki, Akihiko Tokuda, Keiko Ookawa, Yukinobu Tohya, Keita Ishijima, Akiko Okutani, Ken Maeda, Shumpei Watanabe, Shigeru Morikawa

“…The virulent Aoshima strain, which causes atypical FCV infections in cats, may have been derived by acquiring several mutations from a typical strain that chronically infects cats on a remote island.…”
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Therapeutic efficacy of a potent anti-Venezuelan equine encephalitis virus antibody is contingent on Fc effector function by Jennifer L. Schwedler, Maxwell A. Stefan, Christine E. Thatcher, Peter R. McIlroy, Anupama Sinha, Ashlee M. Phillips, Christopher A. Sumner, Colleen M. Courtney, Christina Y. Kim, Dina R. Weilhammer, Brooke Harmon

“…To determine the role of Fc effector function in therapeutic efficacy against Venezuelan equine encephalitis virus (VEEV), we compared the potently neutralizing anti-VEEV human IgG F5 (hF5) Ab with intact Fc function (hF5-WT) or containing the loss of function Fc mutations L234A and L235A (hF5-LALA) in the context of VEEV infection. …”
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Interpreting Variants of Uncertain Significance in PCD: Abnormal Splicing Caused by a Missense Variant of DNAAF3 by Haixia Zheng, Chongsheng Cheng, Miao He, Wangji Zhou, Yixuan Li, Jinrong Dai, Ting Zhang, Kai‐Feng Xu, Xue Zhang, Xinlun Tian, Yaping Liu

“…Our findings not only expanded the spectrum of mutations in the DNAAF3 gene but also highlighted the importance of investigating variants of uncertain significance (VUS) for comprehensive genetic diagnoses.…”
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Genetic predisposition to altered blood cell homeostasis is associated with glioma risk and survival by Linda Kachuri, Geno A. Guerra, Taishi Nakase, George A. Wendt, Helen M. Hansen, Annette M. Molinaro, Paige Bracci, Lucie McCoy, Terri Rice, John K. Wiencke, Jeanette E. Eckel-Passow, Robert B. Jenkins, Margaret Wrensch, Stephen S. Francis

“…We find that increased platelet to lymphocyte ratio (PLR) confers an increased risk of glioma (odds ratio (OR) = 1.25, p = 0.005), especially tumors with isocitrate dehydrogenase (IDH) mutations (OR = 1.38, p = 0.007) and IDHmut 1p/19q intact (IDHmut-intact OR = 1.53, p = 0.004) tumors. …”
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Transcriptional and Posttranscriptional Regulations of the HLA-G Gene by Erick C. Castelli, Luciana C. Veiga-Castelli, Layale Yaghi, Philippe Moreau, Eduardo A. Donadi

“…The overall structure of the HLA-G coding region has been maintained during the evolution process, in which most of its variable sites are synonymous mutations or coincide with introns, preserving major functional HLA-G properties. …”
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Contribution of hypoxia-inducible factor 1alpha to pathogenesis of sarcomeric hypertrophic cardiomyopathy by Sarala Raj Murthi, Andreas Petry, Bachuki Shashikadze, Jan B. Stöckl, Manuel Schmid, Gianluca Santamaria, Karin Klingel, Damir Kračun, Xinpei Chen, Sabine Bauer, Joachim P. Schmitt, Florian Flenkenthaler, Josh Gorham, Christopher N. Toepfer, David Potěšil, Pavel Hruška, Zbyněk Zdráhal, Zsuzsanna Mayer, Mathieu Klop, Luisa Lehmann, Yishi Qin, Laura Papanakli, Nadine Spielmann, Alessandra Moretti, Thomas Fröhlich, Peter Ewert, Stefan Holdenrieder, Jonathan G. Seidman, Christine E. Seidman, Agnes Görlach, Cordula M. Wolf

“…Abstract Hypertrophic cardiomyopathy (HCM) caused by autosomal-dominant mutations in genes coding for structural sarcomeric proteins, is the most common inherited heart disease. …”
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