Exploring oncogenic roles and clinical significance of EZH2: focus on non-canonical activities by Michal Wozniak, Malgorzata Czyz

“…Growing evidence indicates that EZH2 has non-canonical roles that are exerted as PRC2-dependent and PRC2-independent methylation of non-histone proteins, and methyltransferase-independent interactions of EZH2 with various proteins contributing to gene expression regulation and alterations in the protein stability. EZH2 is frequently mutated and/or its expression is deregulated in various cancer types. …”
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Bone-spicule pattern in retinitis pigmentosa by Krzysztof Eder, Rafał Leszczyński, Ewa Mrukwa-Kominek, Paulina Langosz, Sebastian Sirek

“…More than 70 genes are linked to retinitis pigmentosa through mutations. However, the disease may not always show symptoms or can present in ways that deviate from the classic clinical picture. …”
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Epidemiology and Pathogenesis of Nasal NK/T-Cell Lymphoma: A Mini-Review by Katsuyuki Aozasa, Mona A. A. Zaki

“…The disease is much more frequent in Asian and Latin American countries than in Western countries, and is universally associated with Epstein-Barr virus (EBV) infection. Analyses of gene mutations, especially p53 and c-kit, revealed the different frequencies by district. …”
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« Hier sur tous les fronts… Demain sur tous les mondes ». Mobilisation météorologique et reconfigurations disciplinaires, militaires et aéronautiques durant la Première Guerre mond... by Sylvain Di Manno

“…Cet article porte sur la mobilisation de la science météorologique durant la Première Guerre mondiale, et sur les mutations induites par celle-ci au sein des pratiques de prévision météorologique et des sphères militaires et industrielles. …”
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Lukács és a forradalmi reálpolitika by Zsolt Kapelner

“…Lukács György politikafilozófiája számos párhuzamot mutat a realizmus kortárs áramlatával. Ebben a tanulmányban azt a kérdést vizsgálom, hogy milyen válaszokat kínál Lukács politikafilozófiája a realizmus központi kérdéseire, mindenekelőtt a politikai normativitás természetére vonatkozóan. …”
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Noninvasive in Vivo Imaging of Protein Kinase a Activity by Jan Øivind Moskaug, Harald Carlsen, Rune Blomhoff

“…The model uses luciferase, which has been mutated to contain a target sequence of PKA, thus making luminescence from the enzyme dependent on its state of phosphorylation. …”
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NIKOLAI KONSTANTINOVICH KOL’TSOV, THE AUTHOR OF THE TEMPLATE-DIRECTED SYNTHESIS CONCEPT AND FOUNDER OF EXPERIMENTAL BIOLOGY IN RUSSIA by N. N. Yurchenko, O. V. Trapezov, I. K. Zakharov

“…He demonstrated that strong physical and chemical factors could produce mutations in organisms. He also put forward the concept of template-directed synthesis of biopolymers. …”
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Ewing’s Sarcoma of the Lung as a Second Malignancy in Long-Term Survivor of Childhood Hodgkin’s Lymphoma: A Rare Case Report and Literature Review by Sumit Bharti, Deepak Bhasin, Gautam Goyal, Priya Sharma

“…It is well known that immunodeficiency after radiotherapy, chemotherapy, or haematopoietic stem cell transplantation impairs the antitumour activity of the innate and adaptive immune systems, predisposing the immune system to fail to detect and eliminate newly mutated cells. Literature shows evidence of various malignancies in these survivors, including sarcomas; breast cancers; mesothelioma; and solid secondary malignancies like breast cancer, thyroid cancer, and bone or soft tissue sarcoma. …”
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Alternative Splicing and Its Impact as a Cancer Diagnostic Marker by Yun-Ji Kim, Heui-Soo Kim

“…Alternative splicing is regulated by genetic mutations in cis-regulatory factors and epigenetic events. …”
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Magnesium Homeostasis and Implications for Human Health: A Review of the Literature by Piotr Marcin Dudziak, Maria Golińska, Mateusz Łyko, Jakub Kurasz, Paweł Siudziński, Wojciech Maj, Alicja Skoczylas, Wiktoria Podlasiewicz, Katarzyna Pala, Anna Nowak

“…Recent discoveries have unveiled genetic factors, including mutations in specific genes, that can lead to magnesium deficiency. …”
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Engineering of acyl ligase domain in non-ribosomal peptide synthetases to change fatty acid moieties of lipopeptides by Rina Aoki, Eri Kumagawa, Kazuaki Kamata, Hideo Ago, Naoki Sakai, Tomohisa Hasunuma, Naoaki Taoka, Yukari Ohta, Shingo Kobayashi

“…In addition, enzyme assays revealed how mutations in the substrate-binding pocket of the AL domain affected substrate specificity in vitro. …”
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Natural products targeting RAS by multiple mechanisms and its therapeutic potential in cancer: An update since 2020 by Yanqing Liu, Jie Chen, Xiang Li, Yu Fan, Cheng Peng, Xiaochun Ye, Yingshuang Wang, Xin Xie

“…RAS proteins, as pivotal signal transduction molecules, are frequently mutated and hyperactivated in various human cancers, closely associated with tumor cell proliferation, survival, and metastasis. …”
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Erdheim-Chester Disease and Small Lymphocytic Lymphoma Collision Tumour Presenting as a Perirenal Mass by Antonio Maietta, Maryam Razmpoosh

“…Erdheim-Chester disease is a rare histiocytic neoplasm associated with MAPK pathway mutations. Disease manifestation is variable often involving many different organs, mainly bone, retroperitoneum, the heart, and the central nervous system. …”
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Precision oncology through next generation sequencing in hepatocellular carcinoma by Sayali Shinde, Carola Maria Bigogno, Ana Simmons, Nikita Kathuria, Aruni Ghose, Vedika Apte, Patricia Lapitan, Shania Makker, Aydin Caglayan, Stergios Boussios

“…Next-Generation Sequencing (NGS) plays a crucial role in overcoming this issue by sequencing both viral and host genomes to identify mutations and genetic heterogeneity. The knowledge gained from sequencing is then utilised to develop countermeasures against these mutants through different combination therapies. …”
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Mitochondrial disease and epilepsy in children by Xuan Zhang, Xuan Zhang, Xuan Zhang, Bo Zhang, Bo Zhang, Bo Zhang, Zhiming Tao, Zhiming Tao, Zhiming Tao, Jianmin Liang, Jianmin Liang, Jianmin Liang

“…Mitochondrial disease refers to a group of clinically heterogeneous disorders caused by dysfunction in the mitochondrial respiratory chain, often due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) that encodes mitochondrial proteins. …”
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CNTNAP3 Associated ATG16L1 Expression and Crohn’s Disease by Yu Qi Qiao, Mei Lan Huang, Qing Zheng, Tian Rong Wang, An Tao Xu, Yuan Cao, Di Zhao, Zhi Hua Ran, Jun Shen

“…Autophagy-related gene mutations and autophagy disorders are important in Crohn’s disease (CD). …”
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The role of HEPCAM in Jacobsen syndrome: A pediatric case report highlighting white matter abnormalities by Ghazaleh Ghorbannezhad, Reza Nejad Shahrokh Abadi, Farrokh Seilanian Toosi, Shima Shekari, Saeedeh Sadat Mirtooni, Narges Hashemi

“…Furthermore, deletion mutations in the long arm of chromosome 11 can also give rise to Megalocephalic Leukoencephalopathy (MLC), affecting the HEPCAM gene. …”
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Case report: A rare case of chondrosarcoma-like malignant giant cell tumor in adolescent rib: diagnostic challenges and treatment by Zhuolin Qin, Longqian Li, Tao Jing, Cheng Wang

“…Key IHC markers such as Vimentin, SMA, and CD163, alongside genetic analysis excluding H3F3A mutations, guided the diagnostic process. The patient underwent successful surgical resection, achieving early recovery without adjuvant therapy. …”
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Pathological Significance of Mitochondrial Glycation by Pamela Boon Li Pun, Michael P. Murphy

“…The formation of glycation adducts within cells can have severe functional consequences such as inhibition of protein activity and promotion of DNA mutations. Although several lines of evidence suggest that there are specific mitochondrial targets of glycation, and mitochondrial dysfunction itself has been implicated in disease and ageing, it is unclear if glycation of biomolecules specifically within mitochondria induces dysfunction and contributes to disease pathology. …”
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Cerebellar Development and Plasticity: Perspectives for Motor Coordination Strategies, for Motor Skills, and for Therapy by J. D. Swinny, J. J. L. van der Want, A. Gramsbergen

“…Furthermore, the convenience of a number of naturally occurring mouse mutations has allowed a functional dissection of the various cellular elements that make up the cerebellar circuitry. …”
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