Nephrotic Syndrome in Children: From Bench to Treatment by J.-C. Davin, N. W. Rutjes

“…Thirty to forty percents of the latter are associated with mutations of genes coding for podocyte proteins. The rest is due to one or several different circulating factors. …”
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Decoding mitochondrial DNA damage and repair associated with H. pylori infection by Aashirwad Shahi, Dawit Kidane

“…Additionally, we discuss how mutations located on mitochondria targeting sequence (MTS) of BER genes may contribute to mtDNA genome instability and innate immune signaling activation. …”
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Exploiting Body and Place in Thomas Hardy’s Tess of the d’Urbervilles by Catherine Lanone

“…Tess’s plight may be exceptional, but the exception is part of a wider meditation on instability and seasonal flux, as mutations tear the rural social fabric. Far from being merely pastoral and nostalgic, the novel breaks new ground by engaging with gendered and technological strategies that distort the biotope of Wessex.…”
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Tofersen and other antisense oligonucleotides in ALS by Albert Ludolph, Maximilian Wiesenfarth

“…The results of treatment with the ASO tofersen in SOD1-ALS show that the drug has a convincing beneficial effect on ALS caused by SOD1 mutations, that preclinical studies in rodents predicted the therapeutic effect in the human disease, and that clinical efficacy is associated with a specific sequence of effects of the drug on mechanistic and degenerative biomarkers and, subsequently, functional outcomes such as weight stabilization and ALSFRS-R. …”
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Soybean Oil-Quality Variants Identified by Large-Scale Mutagenesis by Karen Hudson

“…These lines are likely to represent 52 distinct genetic mutations. These mutants may represent new loci involved in the determination of soybean seed oil content or could be new isolates or alleles of previously identified genetic variants for soybean oil composition.…”
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Oxidative Stress, Tumor Microenvironment, and Metabolic Reprogramming: A Diabolic Liaison by Tania Fiaschi, Paola Chiarugi

“…Oxidants influence the DNA mutational potential, intracellular signaling pathways controlling cell proliferation and survival and cell motility and invasiveness as well as control the reactivity of stromal components that is fundamental for cancer development and dissemination, inflammation, tissue repair, and de novo angiogenesis. …”
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Awareness and Intelligence with Emotions by Heather M. Janney, Daniel Gonzalez

“…There are hundreds of emotions along with variations, mutations, and blends of those emotions. They tell us about what we are experiencing and help us to know how to react. …”
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Alternative RNA Splicing in Cardiac Diseases by Junli Gao, Yanan Zhang, Meiyu Hu, Tao He, Xiaohang Yin, Tian Hao, Guoping Li, Junjie Xiao

“…In addition, multiple hereditary heart-related diseases are caused by mutations associated with AS. In this review, we discuss how AS regulates individual genes and global biological processes, thereby diversifying the expression patterns of target genes and playing critical roles in cardiovascular diseases. …”
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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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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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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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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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