Exploring the functional and immune landscape of E-β thalassemia patients through RNA sequencing of peripheral blood mononuclear cells by Nibedita Mitra, Prosanto Chowdhury, Anupam Basu

“…Thalassemia is a hematological disorder caused by mutations in the hemoglobin gene, often necessitating regular blood transfusions. …”
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Előszó by Kosztasz Rosta

“…Egyrészt nem fogadja el a vitaindító azon állítását, mely szerint egy vita elsődleges feltétele a vitához szükséges minimális, közös szabályokban, illetve ezek betartásában rejlik, hanem a vitát megalapozó nyelvfelfogás tisztázásának szükségességére figyelmeztet, másrészt Blanchot nyomán példát mutat az analitikus-kontinentális viszony nem oppozitorikus, nem konfrontatív elbeszélésével. …”
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Loss of BRCA1 Spontaneously Induces the Tumorigenesis in Lacrimal Gland by Sun Eui Kim, Hye Jung Baek, Eun Jung Park, Sung Chul Lim, Sang Soo Kim

“…We have previously shown that spontaneous tumors form frequently in mice homozygous for a full-length Brca1 deletion. In general, mutations of BRCA1 are closely associated with induction of breast and ovarian cancers but are also known to contribute to the incidence of other cancers at a low frequency. …”
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Assessing bnAb potency in the context of HIV-1 envelope conformational plasticity. by Caio Foulkes, Nikolas Friedrich, Branislav Ivan, Emanuel Stiegeler, Carsten Magnus, Daniel Schmidt, Umut Karakus, Jacqueline Weber, Huldrych F Günthard, Chloé Pasin, Peter Rusert, Alexandra Trkola

“…To systematically investigate the impact of variability in Env conformation on bnAb potency we screened 126 JR-CSF point mutants for generalized neutralization sensitivity to weakly neutralizing antibodies (weak-nAbs) depending on trimer opening and plasma from people with chronic HIV-1 infection. 23 mutations resulted in a highly neutralization sensitive phenotype, which was associated with de-stabilization of the closed, prefusion conformation. …”
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VEXAS, Chediak–Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator? by Coline Savy, Maxence Bourgoin, Thomas Cluzeau, Arnaud Jacquel, Guillaume Robert, Patrick Auberger

“…It is thus well established that different cell types from Danon disease patients that harbor invalidating mutations in LAMP2 exhibit giant lysosomes containing undigested materials characteristic of defects in the fusion of lysosomes with autophagosomes, a feature also found in VEXAS and CHS. …”
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Autoimmune hepatitis under the COVID-19 veil: an analysis of the nature of potential associations by Chaojie Yu, Wenrui Wang, Qian Zhang, Zhenjing Jin

“…Currently, the overall mutational trend of SARS-CoV-2 indicates heightened infectivity and immune evasion capabilities. …”
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Hydroxychloroquine Potentiates Apoptosis Induced by PPARα Antagonist in 786-O Clear Cell Renal Cell Carcinoma Cells Associated with Inhibiting Autophagy by Ruizhe Mao, Jian Shi, Xuyi Ma, Haiyan Xu

“…The ccRCC cells exhibit a certain degree of inherent drug resistance due to some genetic mutations. In recent years, peroxisome proliferator-activated receptor-α (PPARα) antagonists have been reported as a targeted therapeutic drug capable of inducing apoptosis and cell cycle arrest in the ccRCC cell line. …”
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Status of the Multidrug Resistance-1 Gene of Plasmodium falciparum in Four Malaria Epidemiological Strata, Two Decades after the Abolition of Chloroquine as First-Line Treatment fo... by David Denis Sofeu-Feugaing, Fabrice Nkengeh Ajonglefac, Marcel Nyuylam Moyeh, Tobias Obejum Apinjoh, Marianne Elodie Essende, Gilchrist Destin Talla Kouam, Stephen Mbigha Ghogomu

“…Drug-resistant malaria parasites pose a threat to global malaria control efforts, and it is important to know the extent of these drug-resistant mutations in each region to determine appropriate control measures. …”
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The use of maize haploidy inducers as a tool in agricultural plant biotechnology by A. V. Ulyanov, A. V. Karlov, E. B. Khatefov

“…The discovery of the ability of some mutations to stimulate haploidy during hybridization made it possible to create one of the most promising and sought-after trends in the field of reproductive biology. …”
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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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Multiomics characterization of breast angiosarcoma from an Asian cohort reveals enrichment for angiogenesis signaling pathway and tumor-infiltrating macrophages by Tun Kiat Ko, Zexi Guo, Bavani Kannan, Boon Yee Lim, Jing Yi Lee, Zhimei Li, Elizabeth Chun Yong Lee, Bin Tean Teh, Bin Tean Teh, Jason Yongsheng Chan, Jason Yongsheng Chan, Jason Yongsheng Chan

“…Similarly, Visium spatial transcriptomics showed that AS-B were enriched for macrophages and T-cells.DiscussionIn conclusion, in our AS-B cases, we observed a convergence of both mutational and expression signatures on angiogenic-related pathways. …”
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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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Lysine deacetylase inhibitors have low selectivity in cells and exhibit predominantly off‐target effects by Kiara E. Bornes, Marcus A. Moody, Thomas M. Huckaba, Megan C. Benz, Emily C. McConnell, Maryam Foroozesh, Van H. Barnes, Bridgette M. Collins‐Burow, Matthew E. Burow, Terry J. Watt, Tasha B. Toro

“…We compared the effects of treatment with two of the reportedly most KDAC‐selective inhibitors, Tubastatin A and PCI‐34051, in HT1080 cells in which the endogenous KDAC6 or KDAC8 gene has been mutated to inactivate enzyme catalysis while retaining enzyme expression. …”
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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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