RNA-Targeting CRISPR/CasRx system relieves disease symptoms in Huntington’s disease models by Yingqi Lin, Caijuan Li, Yizhi Chen, Jiale Gao, Jiawei Li, Chunhui Huang, Zhaoming Liu, Wei Wang, Xiao Zheng, Xichen Song, Jianhao Wu, Jiaxi Wu, Oscar Junhong Luo, Zhuchi Tu, Shihua Li, Xiao-Jiang Li, Liangxue Lai, Sen Yan

“…Silencing the expression of mutated proteins is a therapeutic direction to rescue HD patients, and recent advances in gene editing technology such as CRISPR/CasRx have opened up new avenues for therapeutic intervention. …”
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Synchronous clonally related anaplastic large cell lymphoma and malignant histiocytosis by Mirvate Harb, Tom Abrassart, Laurent Dewispeleare, Pierre Sidon, Natacha Dirckx, Anne-laure Trepant, Julie Castiaux, Pierre Heimann, Jean-Francois Emile, Hussein Farhat

“…These two diseases may share mutations and/or cytogenetic anomalies, which can lead to malignant proliferations. …”
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Computational Analysis of nsSNPs of ADA Gene in Severe Combined Immunodeficiency Using Molecular Modeling and Dynamics Simulation by Soukaina Essadssi, Al Mehdi Krami, Lamiae Elkhattabi, Zouhair Elkarhat, Ghita Amalou, Houria Abdelghaffar, Hassan Rouba, Abdelhamid Barakat

“…In addition, our computational analysis showed that the H15D, G140E, G216R, and S291L mutations identified as being associated with severe combined immunodeficiency affect protein structure. …”
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Anthracyclines disaggregate and restore mutant p63 function: a potential therapeutic approach for AEC syndrome by Fabiana Boncimino, Ludovica D’Auria, Kristina Todorova, Sabina Y. van der Zanden, Jacques Neefjes, Anna Mandinova, Caterina Missero, Stefano Sol

“…Abstract Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate (AEC) syndrome is a rare genetic disorder caused by mutations in the TP63 gene, which encodes a transcription factor essential for epidermal gene expression. …”
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Fc-binding nanodisc restores antiviral efficacy of antibodies with reduced neutralizing effects against evolving SARS-CoV-2 variants by Jaehyeon Hwang, Soyun Choi, Beom Kyu Kim, Sumin Son, Jeong Hyeon Yoon, Kyung Won Kim, Wonbeom Park, Hyunjoo Choo, Suhyun Kim, Soomin Kim, Seokhyeon Yu, Sangwon Jung, Sang Taek Jung, Min-Suk Song, Sang Jick Kim, Dae-Hyuk Kweon

“…However, the ongoing evolution of SARS-CoV-2 has revealed significant limitations of this approach, primarily due to mutational escape and the inadequate delivery of antibodies to the upper respiratory tract. …”
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Piperacillin-Induced Immune Hemolytic Anemia in an Adult with Cystic Fibrosis by Mahesh Bandara, David B. Seder, George Garratty, Regina M. Leger, Jonathan B. Zuckerman

“…The potential influence of CF transmembrane conductance regulator mutations on the severity of DIIHA is discussed. This report illustrates the importance of early identification of DIIHA, a rare complication of a commonly utilized medication in CF.…”
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THEORETICAL METHODS FOR INVESTIGATING PROTEIN THERMOSTABILITY AND THEIR APPLICATIONS IN BIOLOGY by N. A. Alemasov, E. S. Fomin

“…They do not require a huge amount of computations and allow to directly determine changes in molecular structure flexibility caused by mutated amino acid residues. But using the only structure it is impossible to explicitly estimate an effect of solvent and its thermodynamical properties.…”
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Secondary Hemophagocytic Syndrome: The Importance of Clinical Suspicion by Cristina Oliveira, Sérgio Chacim, Isabel Ferreira, Nelson Domingues, José Mário Mariz

“…Hemophagocytic syndrome is a rare and potentially fatal disorder characterized by pathological immune activation associated with a primary familial disorder, genetic mutations, or occurring as a sporadic condition. The latter can be secondary to infections, malignancies, or autoimmune diseases. …”
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Zone 5 une controverse en paysage by Hélène Gallezot

“…In the next few years, which will seemingly be marked by profound socio-demographic, functional and morphological mutations, suburbs of individual housing will surely have to be requalified. …”
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The Mitochondrial Aminoacyl tRNA Synthetases: Genes and Syndromes by Daria Diodato, Daniele Ghezzi, Valeria Tiranti

“…This paper reviews the current knowledge of mutations affecting mitochondrial aminoacyl tRNAs synthetases and their role in the pathogenic mechanisms underlying the different clinical presentations.…”
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A helyi rádió szerepe veszélyhelyzetben by Henrik Hargitai

“…A vészhelyzet korai szakaszában elengedhetetlen, hogy a rádióállomás és a hatóságok együttműködjenek a lakosság tájékoztatásában; később a helyi rádió fontos szerepet tölt be a rehabilitációs folyamatokban is. A szerző példákat mutat be a rádió vészhelyzeti működésére, beleértve azt az ideiglenes közösségi rádióállomást is, amely az ajkai–devecseri ipari katasztrófát követően működött 2010-ben. …”
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The interpretation of the New Testament as the study of texts and contexts: hermeneutics, identities, communities by J. Punt

“…The rhetorical power of Paul and his scriptural texts contributed to discursive formations, since a strong sense of being and identity was negotiated through these texts, even when admitting that such formations are always in process, mutating and reformatting. Construing notions of Others was a particularly important feature in defining boundaries, for generating insiders and outsiders in Pauline texts. …”
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« Des pauvres toujours à nos côtés ? » Les guerres contre la pauvreté aux États-Unis au vingtième siècle. by Romain Huret

“…Cet article s’intéresse aux modalités de prise en charge de la pauvreté aux États-Unis au cours du vingtième siècle. Il démontre les mutations importantes dans le domaine de l’assistance sociale et s’intéresse aux acteurs dont le rôle a changé au cours du siècle. …”
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« An Octopus / of ice » : stratigraphies d’un poème by Aurore Clavier

“…Rather, the deep time that surfaces subverts ideal chronologies and allows for endless adaptations, hybridizations, and mutations, therefore redefining America far from too rigid notions of identity. …”
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Modern classification and molecular-genetic aspects of osteogenesis imperfecta by A. R. Zaripova, R. I. Khusainova

“…In the early 1980s, mutations in two genes of collagen type I (COL1A1and COL1A2) were first associated with an autosomal dominant inheritance type of osteogenesis imperfecta. …”
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Loss of protein C vs protein S results in discrepant thrombotic phenotypes by Chia-Jui Ku, Xinge Yu, Queena Y. Zhao, Steven J. Grzegorski, Jeffrey G. Daniel, Allison C. Ferguson, Jordan A. Shavit

“…Abstract: Venous thrombosis is a leading cause of morbidity/mortality and associated with deficiencies of the anticoagulant protein C (PC; PROC) and its cofactor, protein S (PS; PROS1). Heterozygous mutations increase the risk of adult-onset thrombosis, whereas homozygous mutations result in pre/neonatal lethal thrombosis. …”
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Inhibition of the anti-apoptotic protein BCL2 in EML4-ALK cell models as a second proposed therapeutic target for non-small cell lung cancer. by Richard Junior Zapata Dongo, Diletta Fontana, Luca Mologni, Juan Enrique Faya Castillo, Stefany Fiorella Infante Varillas

“…While first-line crizotinib can regulate phosphorylation, mutations in the ALK gene can lead to resistance against ALK inhibitors (ALKi) such as ceritinib and alectinib. …”
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SSR loci potentially associated with high amylopectine content in maize kernel endosperm by S. I. Vakula, O. A. Orlovskaya, L. V. Khotyleva, A. V. Kilchevsky

“…They include 13 high-amylopectin samples carriers of waxy (wx) gene mutations and 20 samples with wild-type character (Wx). …”
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Prognostic determinants and functional role of PIK3C2G in stage IIb-IIIa lung adenocarcinoma: insights from clinical and molecular analyses by Chao Gao, Jiaqi Zhang, Xin Du, Xuehan Gao, Xiayao Diao, Ke Zhao, Yeye Chen, Shanqing Li

“…WES of 184 patients with no matched targeted therapies revealed high-frequency mutations in genes such as TP53 and PIK3C2G, with the latter emerging as the most significant prognostic marker. …”
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Naturally occurring variation in a cytochrome P450 modifies thiabendazole responses independently of beta-tubulin. by J B Collins, Clayton M Dilks, Steffen R Hahnel, Briana Rodriguez, Bennett W Fox, Elizabeth Redman, Jingfang Yu, Brittany Cooke, Kateryna Sihuta, Mostafa Zamanian, Peter J Roy, Frank C Schroeder, John S Gilleard, Erik C Andersen

“…Resistance to the benzimidazole (BZ) drug class is nearly ubiquitous in many species and is associated with mutations in beta-tubulin genes. However, mutations in beta-tubulin alone do not fully explain all BZ resistance. …”
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