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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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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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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Les effets de l’émigration paysanne dans les Andes équatoriennes : une lecture photographique by Nasser Rebaï

“…En procédant à la description de photographies prises à la campagne comme à la ville, nous chercherons à expliquer l’ensemble de ces mutations, avant de nous interroger plus largement sur l’avenir des exploitations familiales dans cette région.…”
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Simulacre et modernité : l’illusion d’optique dans On the Western Circuit de Thomas Hardy by Catherine Lanone

“…The novel displays the enticing flickering sparks of desire created by the new wheel of fortune, turning the steam circus into a metaphor of ruthless mutations and hopelessly warped human relationships.…”
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Les classes moyennes tunisiennes entre mythe et réalité.Éléments pour une mise en perspective historique by Baccar Gherib

“…We also offered a historical perspective of the theme that ties the expansion and prosperity of the middle classes to the different mutations of Tunisian capitalism. Finally, we described the main changes that contribute today to the weakening and destabilization of the middle class in Tunisia.…”
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Between exacerbation and alleviation? by Tom O’Regan

“…While both our media content and our ways of paying for media are stable, the ends they serve and the communication instruments to which they are attached are mutating. In an era of connectivity, both social media and new content priorities are recalibrating our understanding of media, producing both new uses for media and new regimes of knowledge about media alike. …”
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Exposure to Glycolytic Carbon Sources Reveals a Novel Layer of Regulation for the MalT Regulon by Sylvia A. Reimann, Alan J. Wolfe

“…The use of synthetic lethality, a genetic phenomenon in which the combination of two nonlethal mutations causes cell death, facilitates identification and study of such circuitry. …”
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X-Mapper: fast and accurate sequence alignment via gapped x-mers by Jeffry M. Gaston, Eric J. Alm, An-Ni Zhang

“…Alignment is faster with longer, unique seeds, but more accurate with shorter seeds avoiding mutations. Here, we introduce X-Mapper, aiming to offer high speed and accuracy via dynamic-length seeds containing gaps, called gapped x-mers. …”
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Plasmid Gene Therapy for Monogenic Disorders: Challenges and Perspectives by Marco A. Luís, Marcelo A. D. Goes, Fátima Milhano Santos, Joana Mesquita, Paulo Tavares-Ratado, Cândida Teixeira Tomaz

“…Monogenic disorders are a group of human diseases caused by mutations in single genes. While some disease-altering treatments offer relief and slow the progression of certain conditions, the majority of monogenic disorders still lack effective therapies. …”
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Costello Syndrome. A case report by Yadelis Maldonado Martínez, Alexander Torres Molina, Diorgis Duran Lobaina

“…Its inheritance pattern is considered to be autosomal dominant, although most cases are sporadic, suggesting de novo dominant mutations. The case of a 7-year-old patient from the Frank País municipality in Holguín with clinical manifestations consistent with Costello syndrome is presented. …”
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Acute Muscle Trauma due to Overexercise in an Otherwise Healthy Patient with Cystic Fibrosis by Henning Neubauer, Clemens Wirth, Katharina Ruf, Helge Hebestreit, Meinrad Beer

“…Cystic fibrosis (CF) is one of the most common inherited diseases and is caused by mutations in the CFTR gene. Although the pulmonary and gastrointestinal manifestations of the disease remain in the focus of treatment, recent studies have shown expression of the CFTR gene product in skeletal muscle cells and observed altered intramuscular Ca2+ release dynamics in CFTR-deficient animal models. …”
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Central Hypogonadotropic Hypogonadism: Genetic Complexity of a Complex Disease by Marco Marino, Valeria Moriondo, Eleonora Vighi, Elisa Pignatti, Manuela Simoni

“…The genetic mechanisms involve mutations in at least twenty-four genes regulating GnRH neuronal migration, secretion, and activity. …”
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Spontaneous Dissection of the Renal Artery in Vascular Ehlers-Danlos Syndrome by Filipa Pereira, Teresa Cardoso, Paula Sá

“…The vascular type (vEDS) is an autosomal dominant disorder caused by heterozygous mutations in the COL3A1 gene predisposing to premature arterial, intestinal, or uterine rupture. …”
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RAS/RAF/MEK/ERK and PI3K/PTEN/AKT Signaling in Malignant Melanoma Progression and Therapy by Ichiro Yajima, Mayuko Y. Kumasaka, Nguyen Dinh Thang, Yuji Goto, Kozue Takeda, Osamu Yamanoshita, Machiko Iida, Nobutaka Ohgami, Haruka Tamura, Yoshiyuki Kawamoto, Masashi Kato

“…In human melanomas, the RAS/RAF/MEK/ERK (MAPK) and the PI3K/PTEN/AKT (AKT) signaling pathways are two major signaling pathways and are constitutively activated through genetic alterations. Mutations of RAF, RAS, and PTEN contribute to antiapoptosis, abnormal proliferation, angiogenesis, and invasion for melanoma development and progression. …”
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Simple Meets Single: The Application of CRISPR/Cas9 in Haploid Embryonic Stem Cells by Zixi Yin, Lingyi Chen

“…Mammalian haploid embryonic stem cells (haESCs) have only one set of chromosomes per cell, avoiding the issue of heterozygous recessive mutations in diploid cells. Thus, the combination of haESCs and CRISPR/Cas9 facilitates the generation of genome-wide knockout cell libraries for genetic screening. …”
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