Neuropsychiatric disorders in Wilson’s disease: literature review by S. Galnaitytė, A. Musneckis

“… Wilson’s disease is a rare autosomal recessive disease due to the pathogenic mutations in the ATP7B gene that causes impaired copper excretion in the liver and its accumulation in tissues and organs. …”
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Heat Shock Protein 70 Neutralizes Apoptosis-Inducing Factor by Guido Kroemer

“…Programmed cell death (apoptosis) is the physiological process responsible for the demise of superfluous, aged, damaged, mutated, and ectopic cells. Its normal function is essential both for embryonic development and for maintenance of adult tissue homeostasis. …”
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Irradiation-induced Deinococcus radiodurans genome fragmentation triggers transposition of a single resident insertion sequence. by Cécile Pasternak, Bao Ton-Hoang, Geneviève Coste, Adriana Bailone, Michael Chandler, Suzanne Sommer

“…A recent study analyzed the mutational profile in the thyA gene following irradiation. …”
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Exercise-Induced Rhabdomyolysis and Stress-Induced Malignant Hyperthermia Events, Association with Malignant Hyperthermia Susceptibility, and RYR1 Gene Sequence Variations by Antonella Carsana

“…Triggering agents cause an altered intracellular calcium regulation. Mutations in RYR1 gene have been found in about 70% of MH families. …”
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INTESTINAL MICROBIOME - A LEADING FACTOR IN HUMAN HEALTH AND DISEASES by E. Blum Hubert

“…Based on modern molecular, genetic, epigenetic microbiologic and biochemical studies it is, on the one hand, possible to identify disease-related point mutations and single nucleotide polymorphisms within genome-wide association analyses (GWAS). …”
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Introduction by Gilles Couderc

“…Le présent recueil découle de l’étude des livrets d’opéras de la période 1945-1970, car le second après-guerre se révèle être fertile en grandes mutations et en tensions pour l’opéra. Ces réflexions constituaient le quatrième volet d’une série de manifestions internationales engagés en 2002 par le Professeur Walter Zidarič à Nantes sur le thème « Interculturalité et intertextualité : les livrets d’opéra ». …”
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Histone deacetylase inhibition with givinostat: a multi-targeted mode of action with the potential to halt the pathological cascade of Duchenne muscular dystrophy by A. Aartsma-Rus

“…HDAC inhibition has consequently been investigated as a therapeutic approach for muscular dystrophies that, significantly, works independently from specific genetic mutations, making it potentially suitable for all patients with DMD. …”
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An ‘extraordinary change’ in the Climate: The Transformative Power of Impressionism in George Moore’s Art Criticism by Fabienne Gaspari

“…This article examines how George Moore responded to the disruptive nature of works by Whistler, Monet and Manet. It shows that the mutations generated by technological advances created new ways of seeing reflected in this new art. …”
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Le site emporté par l’image ? by Lucinda Groueff, Sonia Keravel

“…Teaching landscape architecture requires transmitting the codes and references pertaining to the different fields of visual culture which underpin a changing culture of landscape architecture in tune with social mutations. How do these new relationships with images, facilitated by digital practices transform architectural approaches? …”
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Lettrés, rebelles et autres bandits face à l’ordre colonial. Réflexions sur l’esprit de résistance et le patriotisme vietnamien by Trinh Van Thao

“…Avec les substantielles mutations de la société vietnamienne apparaissent de nouvelles contestations du statu quo colonial, avec une sérieuse rivalité entre nationalistes et communistes. …”
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The Role of Deubiquitinating Enzymes in Synaptic Function and Nervous System Diseases by Jennifer R. Kowalski, Peter Juo

“…The importance of DUB function at the synapse is underscored by the association of specific mutations in DUB genes with several neurological disorders. …”
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A jelen pillanat fogalma Marcus Aureliusnál by Nikoletta Hendrik

“…Marcus Aurelius gondolkodásának egyes elemei nem jelentenek forradalmi újdonságot, ám azok kombinációja egy újszerű sztoikus cselekvéselméleti felfogás irányába mutat legfőbb szellemi mesteréhez, Epiktétoszhoz képest is. …”
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Multidrug-resistant ST11-KL64 hypervirulent Klebsiella pneumoniae with multiple bla- genes isolated from children's blood by Rongmu Luo, Rongmu Luo, Guannan Ma, Qian Yu, Zhengqin Tian, Qihang Man, Xiangrong Shu, Xuetong Liu, Yupeng Shi, Lei Zhang, Jingbo Wang

“…Additionally, the Tet(A)-S251A variant in the conjugative plasmid pTET-4 may confer tigecycline resistance. Mutations in MgrB, PhoPQ, and PmrABCDK were identified as potential contributors to increased polymyxin resistance. …”
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VACCIMEL, an allogeneic melanoma vaccine, efficiently triggers T cell immune responses against neoantigens and alloantigens, as well as against tumor-associated antigens by Ibel Carri, Ibel Carri, Erika Schwab, Juan Carlos Trivino, Erika M. von Euw, Morten Nielsen, Morten Nielsen, José Mordoh, María Marcela Barrio

“…However, immune responses directed to vaccine antigens that may arise from VACCIMEL’s somatic mutations and human polymorphisms remain unexplored. …”
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Prevalence and antimicrobial resistance of Campylobacter jejuni and Campylobacter coli over time in Thailand under a One Health approach: A systematic review and meta-analysis by Doan Hoang Phu, Tuempong Wongtawan, Truong Thanh Nam, Dinh Bao Truong, Naparat Suttidate, Juan Carrique-Mas, Niwat Chansiripornchai, Conny Turni, Patrick J. Blackall, Thotsapol Thomrongsuwannakij

“…Thirteen resistance genes/mutations were reported, with the phenotypic resistance linked to gyrA mutations and tet(O) genes. …”
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Pathogenic variants of TUBB8 cause oocyte spindle defects by disrupting with EB1/CAKP5 interactions and potential treatment targeting microtubule acetylation through HDAC6 inhibiti... by Hui Luo, Jianhua Chen, Cao Li, Tian Wu, Siyue Yin, Guangping Yang, Yipin Wang, Zhihan Guo, Saifei Hu, Yanni He, Yingnan Wang, Yao Chen, Youqiang Su, Congxiu Miao, Yun Qian, Ruizhi Feng

“…Results First, we observed a significant depletion of the EB1 signal upon microinjection of mutated TUBB8 mRNA (including R262Q, M300I, and D417N missense variants), indicating disruption of microtubule nucleation caused by these introduced TUBB8 missense variants. …”
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Előszó by Nikoletta Hendrik, Kosztasz Rosta

“…Végül Lautner Péter Szimplikiosz az epiktétoszi Kézikönyvecskéhez írott kommentárja kapcsán mutat rá arra, hogy a neoplatonikus szerző itt kifejtett nézete a lélekről – megint csak a szabad választás működése alapján – markánsan eltér az elemzett műben megismerhető sztoikus lélekfelfogástól. …”
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Durable responders in advanced NSCLC with elevated TMB and treated with 1L immune checkpoint inhibitor: a real-world outcomes analysis by David P Carbone, David Spigel, Jeffrey S Ross, Karthikeyan Murugesan, Gerald Li, Richard S P Huang, Ryon P Graf, Geoffrey R Oxnard, Alexa Schrock, Liangliang Zhang, Khaled Tolba, Jacob Sands

“…Here, we examined the complementary roles of tumor mutational burden (TMB) and programmed death ligand-1 (PD-L1) immunohistochemistry (IHC) to inform first-line therapy using a large real-world (rw) data set.Materials and methods The study included patients with NSCLC from an rw de-identified clinico-genomic database. …”
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Glioma Image-Level and Slide-Level Gene Predictor (GLISP) for Molecular Diagnosis and Predicting Genetic Events of Adult Diffuse Glioma by Minh-Khang Le, Masataka Kawai, Kenta Masui, Takashi Komori, Takakazu Kawamata, Yoshihiro Muragaki, Tomohiro Inoue, Ippei Tahara, Kazunari Kasai, Tetsuo Kondo

“…Using the concept of multiple-instance learning, we developed an AI framework named GLioma Image-level and Slide-level gene Predictor (GLISP) to predict nine genetic abnormalities in hematoxylin and eosin sections: <i>IDH1/2</i>, <i>ATRX</i>, <i>TP53</i> mutations, <i>TERT</i> promoter mutations, <i>CDKN2A/B</i> homozygous deletion (CHD), <i>EGFR</i> amplification (<i>EGFR</i>amp), 7 gain/10 loss (7+/10−), 1p/19q co-deletion, and <i>MGMT</i> promoter methylation. …”
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Alphaherpesvirus in Pets and Livestock by Shu-Hui Duan, Ze-Min Li, Xue-Jie Yu, Dan Li

“…Despite the fact that they primarily infect specific hosts, these viruses have the potential for cross-species transmission due to genetic mutations and/or recombination events. During infection, herpesviruses not only stimulate innate immune responses in host cells but also interfere with signaling pathways through specific proteins to achieve immune evasion. …”
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