Vitesse, réseau, vision : La malle poste-anglaise de Thomas de Quincey by Jean-Christophe Valtat

“…Usually linked to Opium, the visionary romantic aesthetic of Thomas De Quincey, can also be refered to the technological mutations of the emerging industrial modernity. The English Mail-Coach, especially, can be regarded as seminal text about the memorial and cognitive effects of such mutations. …”
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A Cell Model for Conditional Profiling of Androgen-Receptor-Interacting Proteins by K. A. Mooslehner, J. D. Davies, I. A. Hughes

“…Partial androgen insensitivity syndrome (PAIS) is associated with impaired male genital development and can be transmitted through mutations in the androgen receptor (AR). The aim of this study is to develop a cell model suitable for studying the impact AR mutations might have on AR interacting proteins. …”
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ARMC5 Primary Bilateral Macronodular Adrenal Hyperplasia Associated with a Meningioma: A Family Report by M. J. Ferreira, J. Pedro, D. Salazar, C. Costa, J. Aragão Rodrigues, M. M. Costa, A. Grangeia, J. L. Castedo, D. Carvalho

“…Familial clustering suggests a genetic cause that has been confirmed with the identification of some genetic mutations, including inactivating germline mutations, in armadillo repeat containing 5 (ARMC5) gene. …”
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The discovery and characterization of K‐563, a novel inhibitor of the Keap1/Nrf2 pathway produced by Streptomyces sp by Ran Hori, Kozo Yamaguchi, Hidetaka Sato, Miwa Watanabe, Kyoko Tsutsumi, Susumu Iwamoto, Masayuki Abe, Hideyuki Onodera, Satoshi Nakamura, Ryuichiro Nakai

“…Previous reports found that aberrant Keap1/Nrf2 pathway activation due to Kelch‐like ECH‐associated protein 1 (Keap1) mutations or Nuclear factor E2‐related factor 2 (Nrf2) mutations induced resistance of cancer cells to chemotherapy and accelerated cell growth via the supply of nutrients. …”
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In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of... by Aurélie Louit, Marie-Josée Beaudet, Mathieu Blais, François Gros-Louis, Nicolas Dupré, François Berthod

“…Compared to controls, iPSC-derived mutated SACS neurons expressed lower amounts of sacsin. …”
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Distal protein-protein interactions contribute to nirmatrelvir resistance by Eric M. Lewandowski, Xiujun Zhang, Haozhou Tan, Aiden Jaskolka-Brown, Navita Kohaal, Aliaksandra Frazier, Jesper J. Madsen, Lian M. C. Jacobs, Jun Wang, Yu Chen

“…Resistance mutants identified clinically and in viral passage assays contain a combination of active site mutations (e.g., E166V, E166A, L167F), which reduce inhibitor binding and enzymatic activity, and non-active site mutations (e.g., P252L, T21I, L50F), which restore the fitness of viral replication. …”
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Nonclinical immunogenicity risk assessment for knobs-into-holes bispecific IgG1 antibodies by Wen-Ting K. Tsai, Yinyin Li, Zhaojun Yin, Peter Tran, Qui Phung, Zhenru Zhou, Kun Peng, Dan Qin, Sien Tam, Christoph Spiess, Jochen Brumm, Manda Wong, Zhengmao Ye, Patrick Wu, Sivan Cohen, Paul J. Carter

“…For example, we have extensively used knobs-into-holes (KIH) mutations to facilitate the heterodimerization of antibody heavy chains and more recently Fab mutations to promote cognate heavy/light chain pairing for efficient in vivo assembly of bispecific IgG in single host cells. …”
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Se nourrir à Hanoi : les recompositions du système alimentaire d’une ville émergente by Gwenn Pulliat

“…The example of food shows how mutations of Hanoi deepen social inequalities.…”
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Navigating Host Immunity and Concurrent Ozone Stress: Strain‐Resolved Metagenomics Reveals Maintenance of Intraspecific Diversity and Genetic Variation in Xanthomonas on Pepper by Amanpreet Kaur, Ivory Russell, Ranlin Liu, Auston Holland, Rishi Bhandari, Neha Potnis

“…While parallel mutations may provide clues to predicting long‐term pathogen evolution and adaptive potential. …”
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Prenatal Counseling and Diagnosis of COX20 Gene-Related Mitochondrial Complex IV Deficiency: A Case Report and Literature Review by Su J, Zeng L, Chen H, Tong J, Chen Y, Huang L, Deng L, Huang Y

“…Through the application of whole-exome sequencing (WES), compound heterozygous COX20 mutations (c.41A>G and c.259C>T) were detected, leading to the confirmation of a diagnosis of mitochondrial complex IV deficiency. …”
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MDM2 inhibition is associated with the emergence of TP53-altered clonal hematopoiesis by Vishesh Khanna, Gohar Eslami, Rochelle Reyes, Robert Diep, Sebastian Fernandez-Pol, Henning Stehr, Carlos Jose Suarez, Harlan Pinto, James M. Ford, Tian Yi Zhang, Christopher T. Chen

“…Plasma TP53 mutations were similarly detected among 4 other patients treated at our institution, with the number of mutations correlating strongly with duration of treatment. …”
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Cognitive Impairment in Genetic Parkinson’s Disease by A. Planas-Ballvé, D. Vilas

“…In this review, we summarize data regarding cognitive function on clinical studies, neuroimaging, and biological markers of cognitive decline in autosomal dominant PD linked to mutations in LRRK2 and SNCA, autosomal recessive PD linked to Parkin and PINK1, and also PD linked to GBA mutations.…”
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Molecular Analyses of Aspirated Cystic Fluid for the Differential Diagnosis of Cystic Lesions of the Pancreas: A Systematic Review and Meta-Analysis by Xiaorong Guo, Xianbao Zhan, Zhaoshen Li

“…Conclusion. Tests of KRAS mutations could confirm but not exclude a diagnosis of a mucinous or malignant pancreatic cyst.…”
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A Decade of FGF Receptor Research in Bladder Cancer: Past, Present, and Future Challenges by Erica di Martino, Darren C. Tomlinson, Margaret A. Knowles

“…FGFR1 is not mutated in UC, but overexpression is frequent in all grades and stages and recent data indicate a role in urothelial epithelial-mesenchymal transition. …”
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Cellular Reprogramming, Genome Editing, and Alternative CRISPR Cas9 Technologies for Precise Gene Therapy of Duchenne Muscular Dystrophy by Peter Gee, Huaigeng Xu, Akitsu Hotta

“…In particular, Duchenne muscular dystrophy (DMD) has been an exemplary monogenic disease model for combining these technologies to demonstrate that genome editing can correct genetic mutations in DMD patient-derived iPSCs. DMD is an X-linked genetic disorder caused by mutations that disrupt the open reading frame of the dystrophin gene, which plays a critical role in stabilizing muscle cells during contraction and relaxation. …”
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KRASG12C‐inhibitor‐based combination therapies for pancreatic cancer: insights from drug screening by Constanza Tapia Contreras, Jonas Dominik Falke, Dana‐Magdalena Seifert, Carolin Schneider, Lukas Krauß, Xin Fang, Denise Müller, Engin Demirdizen, Melanie Spitzner, Tiago De Oliveira, Christian Schneeweis, Jochen Gaedcke, Silke Kaulfuß, Kimia Mirzakhani, Bernd Wollnik, Karly Conrads, Tim Beißbarth, Gabriela Salinas, Jonas Hügel, Nils Beyer, Sophia Rheinländer, Ulrich Sax, Matthias Wirth, Lena‐Christin Conradi, Maximilian Reichert, Volker Ellenrieder, Philipp Ströbel, Michael Ghadimi, Marian Grade, Dieter Saur, Elisabeth Hessmann, Günter Schneider

“…The predominant driver in PDAC is mutated KRAS proto‐oncogene, KRA, present in 90% of patients. …”
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Optical genome mapping: Unraveling complex variations and enabling precise diagnosis in dystrophinopathy by Jiahui Mai, Jing Duan, Xiaoyu Chen, Liqin Liu, Dachao Liang, Tao Fu, Gang Lu, Wai Yee Chan, Xufeng Luo, Feiqiu Wen, Jianxiang Liao, Zhuo Li, Xinguo Lu

“…No mutations were detected in the remaining two male patients. …”
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Analysis of marker substitutions in A/chicken/Astrakhan/2171-1/2020 H5N8 isolate of avian influenza virus recovered in the Astrakhan Oblast by N. G. Zinyakov, A. V. Andriyasov, Ye. V. Ovchinnikova, A. A. Kozlov, P. D. Zhestkov, D. B. Andreychuk, I. A. Chvala

“…No mutations affecting virus sensitivity to anti-viral medicines, rimantadin, amantadine, oseltamivir and zanamivir, were detected. …”
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p19Arf suppresses growth, progression, and metastasis of Hras-driven carcinomas through p53-dependent and -independent pathways. by Karen S Kelly-Spratt, Kay E Gurley, Yutaka Yasui, Christopher J Kemp

“…This indicates that selection for p53 mutations is a direct result of signaling from the initiating oncogenic lesion, Hras, acting through p19(Arf).…”
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PRMT1-methylated MSX1 phase separates to control palate development by Li Meng, Yucheng Jiang, Jiawen You, Yatao Chen, Shuyu Guo, Liming Chen, Junqing Ma

“…Abstract Little is known about the regulation and function of phase separation in craniofacial developmental disorders. MSX1 mutations are associated with human cleft palate, the most common craniofacial birth defect. …”
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