Nephrocalcinosis: the latest reports on risk factors – a review by Tomasz Dudzik, Łucja Dudzik, Igor Domański, Aleksandra Kozieł, Paulina Wójcik, Natalia Kuderska

“…The study emphasizes the critical role of advanced imaging techniques in diagnosis and the identification of new genetic mutations in genes such as CLCN5, CASR , and SLC34A3 as significant factors contributing to the condition. …”
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Genomic Analysis Methods of Microorganisms by Canan Kebabçıoğlu, Osman Erganiş

“…CRISPR modifies the genetic code and can correct mutations or control genes using Cas9. These methods are important for identifying bacterial species and annotating genomic information. …”
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Ulcerative Colitis Preceding Asymptomatic Wilson’s Disease: A Case Report and Literature Review by Jun Kunizaki, Yuko Yoto, Yoshinobu Nagaoka, Akira Ishii, Tomoe Kazama, Kohei Wagatsuma, Noriyuki Akutsu, Aki Ishikawa, Toju Tanaka, Shintaro Sugita, Takeshi Tsugawa, Hiroshi Nakase

“…After starting copper chelators, her liver function normalized, and she maintained clinical and endoscopic remission of ulcerative colitis. Mutations or defective functions of ATP7B lead to hepatic dysfunction and intestinal inflammation.…”
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Targeting Mitochondrial Dysfunction in Cerebral Ischemia: Advances in Pharmacological Interventions by Igor Belenichev, Olena Popazova, Nina Bukhtiyarova, Victor Ryzhenko, Sergii Pavlov, Elina Suprun, Valentyn Oksenych, Oleksandr Kamyshnyi

“…Mitochondrial dysfunction can arise from genetic mutations, ischemic events, hypoxia, and other environmental factors. …”
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Phylobook: a tool for display, clade annotation and extraction of sequences from molecular phylogenies by Jeffrey C Furlong, Peter D Darley, Wenjie Deng, James I Mullins, Roger E Bumgarner

“…Starting with a sequence alignment file, Phylobook generates and displays phylogenetic trees adjacent to highlighter plots showing the position of mutations, and allows the user to identify lineages and recombinants, annotate and export selected subsets of sequences for downstream analysis. …”
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Brugada syndrome update by Tingting Xu, Shaokun Wang, Jiawen Wang, Jihong Xing

“…Brugada syndrome (BrS), a genetic disorder affecting cardiac ion channels, predominantly manifests due to mutations that impair the function of the Nav1.5 sodium channel’s α-subunit. …”
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La dynamique du marché immobilier de la ville de Buenos Aires. Le cas de « Las Cañitas » (1991-2018) by Adrián C. Iulita

“…In the present work, we approach the case of "Las Cañitas", an area of ten blocks between the neighborhoods of Palermo and Belgrano, north of the Autonomous City of Buenos Aires, which have mutated from this "new" way of making a city, both in its social and urban structure. …”
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Evading Capture by Residual Disease Monitoring: Extramedullary Manifestation of JAK2 V617F-Positive Primary Myelofibrosis After Allogeneic Stem Cell Transplantation by Stephen E. Langabeer, James Nolan, Karl Haslam, Lindsey Clarke, Richard Flavin, Eibhlin Conneally

“…This case serves to highlight a pitfall in residual disease monitoring for myeloproliferative neoplasm-associated mutations in the post-allogeneic stem cell transplantation setting.…”
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PDE12 mediated pruning of the poly-A tail of mitochondrial DNA-encoded tRNAs is essential for survival by Chenxiao Yu, Marco Tigano, Erin L Seifert

“…A new study by Van Haute and colleagues (Van Haute et al, 2024) describes the first pathogenic variants in the human PDE12 gene. The 3 missense mutations that were identified each carry severe phenotypic consequences that correlate with the presence or not of residual PDE12 protein, show cell-type-specific adaptive responses, and specificity in the mtDNA-encoded electron transport chain subunits that are most affected. …”
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The Role of the NIS (SLC5A5) Gene in Papillary Thyroid Cancer: A Systematic Review by Rafael Martins de Morais, Alaor Barra Sobrinho, Calliandra Maria de Souza Silva, Jamila Reis de Oliveira, Izabel Cristina Rodrigues da Silva, Otávio de Toledo Nóbrega

“…Genetic and epigenetic alterations play a decisive role in the onset of several human neoplasms. Mutations and polymorphisms are two frequent genetic alterations. …”
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L’école est finie ! L’ère trans-moderne du savoir-relation et la fin de la transmission ? by Béatrice Mabilon Bonfils

“…Inclusion/exclusion processes take over from supervisory/control processes and translate into a shaky identity in the work of the teachers, a firming of the forms of control and adaptive ruses, a sort of survival strategy of a school in mutations. The loss of intelligibility of scholastic knowledge is obvious. …”
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Neuroinflammatory Mechanisms of Mitochondrial Dysfunction and Neurodegeneration in Glaucoma by Joao N. Duarte

“…Mitochondrial damage has been linked to the accumulation of age-related mitochondrial DNA mutations and mitochondrial dysfunction, possibly through aberrant reactive oxygen species production and defective mitophagy. …”
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Bourreaux et victimes ? La difficile identité collective des Allemands au prisme du cinéma germanophone by Brigitte Rigaux-Pirastru

“…Through several successful German movies (from 1951 to 2015), we will study the memorial mutations of the flight and the expulsion on the screen – which are sometimes concurrent with those of the war and of the holocaust. …”
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Tracing Ophelia from Millais to Contemporary Art: Literary, Pictorial and Digital Icons by Laurence Roussillon-Constanty

“…Starting with the emblematic Pre-Raphaelite painting, this article aims to establish a critical dialogue between works of various periods and various media, ranging from the Victorian era to the present day to demonstrate the mutations and persistence of Millais’s icon.…”
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Hyperferritinemia at the patient with chronic hepatitis C by Ye. N. German, A. O. Buyeverov, M. V. Mayevskaya, Ch. S. Pavlov, V. T. Ivashkin, A. A. Levina

“…To represent the patient with chronic hepatitis C with severe hyperferritinemia and absence of dominant mutations of hereditary hemochromatosis gene.Clinical case data. …”
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Parauapebas: na capital do minério, expansão das atividades terciárias by Áthila Lima Kzam

“…In the final part, through a multitemporal analysis of four images from the Landsat-TM sensor, it produces a map that confirms the mutations of the municipal urban area. The main conclusions indicate that, although mining remains the main productive activity, Parauapebas is not a simple urban nucleus to support mineral extraction in the Serra dos Carajás since it is also characterized by the expansion of consumption, commerce and the provision of services, activities that contributed to the creation of new areas of intra-urban centrality observed in its spatial structure.…”
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Dyschromatosis symmetrica hereditaria by K. Geetha

“…To date, more than 100 ADAR1 mutations have been reported in DSH patients, and the catalytic domain deaminase is thought to be critical to the gene’s activities. …”
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CANDLE syndrome – a narrative review by Aleksandra Snopkowska, Joanna Gołda, Julia Mężyk, Piotr Gacka, Marcin Dołęga

“…The syndrome is associated with gene mutations encoding proteasome or immunoproteasome subunits, particularly PSMB8, contributing to disrupted proteostasis and aberrant type 1 interferon production. …”
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« We need to […] out-innovate the world » : les tribulations de la politique de compétitivité américaine by Jean-Baptiste Velut

“…From a theoretical standpoint, this article aims to analyze the resilience and mutations of America’s capitalist model during a period characterized by dramatic transformations in the global economy. …”
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PET Imaging of Steroid Hormone Receptor Expression by Louis Allott, Graham Smith, Eric O. Aboagye, Laurence Carroll

“…Steroid hormone receptor (SHR) expression and changes in SHR expression compared to basal levels, whether upregulated, down-regulated, or mutated, form a distinguishing feature of some breast, ovarian, and prostate cancers. …”
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