Diverse real-life outcomes after intensive risk-adapted therapy for 1034 AML patients from the CETLAM Group by Guadalupe Oñate, Ana Garrido, Montserrat Arnan, Helena Pomares, Ester Alonso, Mar Tormo, Marina Diaz-Beya, Susana Vives, Lurdes Zamora, Antonia Sampol, Rosa Coll, Olga Salamero, Marta Cervera, Antoni Garcia, Ferran Vall-Llovera, Sara Garcia-Avila, Joan Bargay, Xavier Ortin, Eva Iranzo, Francisca Guijarro, Marta Pratcorona, Josep F. Nomdedeu, Jordi Esteve, Jorge Sierra

“…An especially adverse genetic group included complex, monosomal karyotype, TP53 alterations (deleted/mutated), and MECOMr. Transplant feasibility in this very adverse risk group was low, and OS and EFS at 4 years were 14% and 12%, in contrast to 70% and 57% in the favorable group and 38% and 32% in all other patients. …”
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Immunopathogenesis of inflammatory bowel diseases by Ye. A. Konovich, I. L. Khalif, M. V. Shapina

“…Innate immunity changes revealed in last years, related to mutations of genes of bacterial structures receptors (NOD2, toll-like receptors, autophagy), cause disorder of endocellular signal processes and pathological activation of cells of adaptive immunodefense of intestinal mucosa and conforming profile of cytokines with development of chronic inflammation which will be mediated: at Crohn's disease – by Th1-and Th17-cells, cytokines IL-12, interferon-γ etc., at ulcerative colitis – by Th2-and NKT-cells, cytokines IL-4 and IL-3 in combination to incompetence of suppressor function of regulatory Т-cells and their cytokines TGF-β (transforming growth factor) and IL-10.Conclusion. …”
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Diagnostic challenges in the diagnosis and treatment of ovarian cancer in Lynch syndrome by Agnieszka Protasiuk, Agata Żak, Rafał Sierzpowski, Patrycja Tymoszuk, Bartosz Kasperek, Katarzyna Augustowska

“…Description This discussion explores the genetic mechanisms underlying mutations in mismatch repair (MMR) genes, such as MLH1, MSH2, MSH6, and PMS2, which are essential for maintaining genomic stability. …”
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Paget’s disease of the breast: a contemporary perspective by O. O. Yemelyanova, A. D. Zikiryakhodzhaev, N. N. Volchenko, V. V. Efanov

“…Significant prognostic factors, e.g. the invasive component of Paget’s cancer, the involvement status of regional lymph nodes, morphological criteria, the grade of malignancy, overexpression of epidermal growth factor Her2/neu, the presence of BRCA 1/2 and CHEK2 gene mutations, as well as age, affect the prognosis of Paget’s disease. …”
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Comparative Molecular Field Analysis (CoMFA) for Thiotetrazole Alkynylacetanilides, a Non-Nucleoside Inhibitor of HIV-1 Double Mutant K103N/Y181C Reverse Transcriptase by Sivan Sree Kanth, Kotla Sai Abhishake, Manga Vijjulatha

“…HIV-1 resistance to nucleoside RT inhibitors such as AZT can arise through mutations in the coding region of RT. Recently a series of thioterazolyl acetanilides were reported as potent inhibitors of HIV-1 wild type and double mutant K103N/Y181C reverse transcriptase. …”
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The study of the regulatory region of the Drosophila melanogaster Notch gene by new methods of directed genome editing by O. V. Andreyenkov, E. I. Volkova, N. G. Andreyenkova, S. A. Demakov

“…In mammals, the family of Notch receptors includes four homologues. In humans, mutations in the Notch gene cause several hereditary diseases and carcinogenesis. …”
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Organoid development and applications in gynecological cancers: the new stage of tumor treatment by Yang Li, Meiying Qin, Ning Liu, Chunmei Zhang

“…In contrast to traditional cell lines and patient-derived xenograft (PDX) models, gynecologic cancer organoids accurately mirror the genetic mutations and specific gene expression profiles of primary tumors. …”
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KMT2C/KMT2D-dependent H3K4me1 mediates changes in DNA replication timing and origin activity during a cell fate transition by Deniz Gökbuget, Liana Goehring, Ryan M. Boileau, Kayla Lenshoek, Tony T. Huang, Robert Blelloch

“…Our findings reveal KMT2C/D-dependent H3K4me1 as a key regulator of RT and replication initiation, a role that likely impacts diseases associated with KMT2C/D mutations.…”
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Artemisinin Stimulates Neuronal Cell Viability and Possess a Neuroprotective Effect In Vitro by Sergey A. Pukhov, Alexey V. Semakov, Nadezhda E. Pukaeva, Olga A. Kukharskaya, Tatyana V. Ivanova, Viktoriya S. Kryshkova, Sergey O. Bachurin, Michail S. Kukharsky

“…Additionally, artemisinin effectively inhibited the aggregation of mutated TDP-43 protein in transfected SH-SY5Y cells. …”
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Real-world clinical multi-omics analyses reveal bifurcation of ER-independent and ER-dependent drug resistance to CDK4/6 inhibitors by Zhengyan Kan, Ji Wen, Vinicius Bonato, Jennifer Webster, Wenjing Yang, Vladimir Ivanov, Kimberly Hyunjung Kim, Whijae Roh, Chaoting Liu, Xinmeng Jasmine Mu, Jennifer Lapira-Miller, Jon Oyer, Todd VanArsdale, Paul A. Rejto, Jadwiga Bienkowska

“…The ER independent subgroup, growing from 5% pre-treatment to 21% post-progression, is characterized by down-regulated estrogen signaling and enrichment of resistance markers including TP53 mutations, CCNE1 over-expression and Her2/Basal subtypes. …”
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In vitro long-term exposure to chlorhexidine or triclosan induces cross-resistance against azoles in Nakaseomyces glabratus by Kathrin Spettel, Dominik Bumberger, Richard Kriz, Sarah Frank, Madita Loy, Sonia Galazka, Miranda Suchomel, Heimo Lagler, Athanasios Makristathis, Birgit Willinger

“…However, 50 N. glabratus isolates acquired resistance to azole antifungals after long-term exposure to triclosan or chlorhexidine, revealing newly acquired mutations in the PDR1 and PMA1 genes. Conclusions Chlorhexidine as well as triclosan, but not octenidine, were able to introduce selective pressure promoting resistance to azole antifungals. …”
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Case report: A rare case of a long-term survivor of glioblastoma who underwent two courses of hypofractionated radiotherapy as part of her care by Midhad Mrvoljak, Midhad Mrvoljak, Shubhendu Mishra, Liam Chen, Liam Chen, Elizabeth Neil, Elizabeth Neil, Eric Ehler, Stephanie Terezakis, Stephanie Terezakis, Lindsey Sloan, Lindsey Sloan

“…The patient is a 75-year-old woman who presented with progressive aphasia and was diagnosed with GB (WHO grade 4, IDH1/IDH2 wild type, ATRX intact, p53 and PTEN mutant, BRAF non-mutated, O6-methylguanine-DNA methyltransferase promoter methylated) and who underwent surgical resection, hypofractionated radiotherapy (HFRT) using intensity-modulated radiotherapy (IMRT) (4,005 cGy in 15 fractions) alone, and adjuvant temozolomide (TMZ). …”
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Functional Role of SIL1 in Neurodevelopment and Learning by Shilian Xu, Jia Zhu, Kai Mi, Yan Shen, Xiaomin Zhang

“…Sil1 is the causative gene of Marinesco-Sjӧgren Syndrome (MSS). The mutated Sil1 generates shortened SIL1 protein which will form aggregation and be degraded rapidly. …”
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Advances in bioinformatics and multi-omics integration: transforming viral infectious disease research in veterinary medicine by Alyaa Elrashedy, Walid Mousa, Mohamed Nayel, Akram Salama, Ahmed Zaghawa, Ahmed Elsify, Mohamed E. Hasan

“…Additionally, multi-omics data integration further deepens our understanding of homology, divergence, mutations, and evolutionary relationships, providing a comprehensive perspective on the molecular mechanisms driving animal pathogens infections. …”
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The NE/AAT/CBG axis regulates adipose tissue glucocorticoid exposure by Luke D. Boyle, Allende Miguelez-Crespo, Mhairi Paul, Elisa Villalobos, Julia N. C. Toews, Lisa Ivatt, Boglarka Nagy, Marisa Magennis, Natalie Z. M. Homer, Ruth Andrew, Victor Viau, Geoffrey L. Hammond, Roland H. Stimson, Brian R. Walker, Mark Nixon

“…Moreover, human asymptomatic heterozygous carriers of deleterious mutations in SERPINA1 resulting in lower AAT levels have increased adipose tissue glucocorticoid levels and action. …”
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Engineering hydrophobicity and manufacturability for optimized biparatopic antibody–drug conjugates targeting c-MET by Andreas Evers, Simon Krah, Deniz Demir, Ramona Gaa, Desislava Elter, Christian Schroeter, Stefan Zielonka, Nicolas Rasche, Julia Dotterweich, Christine Knuehl, Achim Doerner

“…In addition to rational design of HCDR2 and HCDR3 mutations, site-specific spiking libraries were generated and screened in yeast and mammalian surface display approaches. …”
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Cultivation and molecular characterization of complete genome sequences of M. pneumoniae isolated in Russia by Matsvay A.D., Bezrukov V.M., Nikolaeva P.A., Stetsenko I.F., Nurmukanova V.A., Dikaya G.S., Gordukova M.A., Galeeva E.V., Shipulin G.A.

“…Utilizing all genomic sequences of M. pneumoniae available in public databases, we conducted a phylogenetic analysis as well as a comparative analysis of clinically significant genes, revealing previously undescribed mutations in cytoadherence proteins. Conclusions. …”
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The small GTPase MRAS is a broken switch by Gabriela Bernal Astrain, Regina Strakhova, Chang Hwa Jo, Emma Teszner, Ryan C. Killoran, Matthew J. Smith

“…Synthetic activating mutations widely used to study the function of MRAS in a presumed GTP-loaded state do not increase exchange, but instead drive effector binding due to sampling of an activated conformation in the GDP-loaded state. …”
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Anti-proteolytic regulation of KRAS by USP9X/NDRG3 in KRAS-driven cancer development by Han Koo, Kyung Chan Park, Hyun Ahm Sohn, Minho Kang, Dong Joon Kim, Zee-Yong Park, Sehoon Park, Sang Hyun Min, Seong-Hwan Park, Yeon-Mi You, Yohan Han, Bo-Kyung Kim, Chul-Ho Lee, Yeon-Soo Kim, Sang J. Chung, Young Il Yeom, Dong Chul Lee

“…Abstract Cancers with activating mutations of KRAS show a high prevalence but remain intractable, requiring innovative strategies to overcome the poor targetability of KRAS. …”
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Risk factors for brain metastasis in lung cancer: an umbrella review of systematic reviews and meta-analyses by Sumei Wang, Xinliang Wan, Handan Mo, Jixin Chen, Qichun Zhou, Shenghong Qiu, Yongchun Zou, Wanyin Wu, Qing Tang

“…Epidermal growth factor receptor mutations, female gender, lung adenocarcinoma and advanced tumour stage were associated with an increased risk of brain metastasis. …”
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