Comparative Evaluation of Permissiveness to Dengue Virus Serotype 2 Infection in Primary Rodent Macrophages by Jeanette Prada-Arismendy, Verónica Rincón, Jaime E. Castellanos

“…The results established that macrophages derived from the BALB/c mouse strain showed higher permissiveness to DENV2 infection than macrophages from other rodent species, although all rodent species studied had the C820T mutation in the oligoadenylate synthetase 1b gene, indicating no relationship to the different in vitro susceptibilities of mouse cells at this locus. …”
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Chronic Mild Hyperglycemia in GCK-MODY Patients Does Not Increase Carotid Intima-Media Thickness by Stepanka Pruhova, Petra Dusatkova, Pavel J. Kraml, Michal Kulich, Zdena Prochazkova, Jan Broz, Jaroslav Zikmund, Ondrej Cinek, Michal Andel, Oluf Pedersen, Torben Hansen, Jan Lebl

“…GCK-MODY is an autosomal dominant form of diabetes caused by heterozygous mutations in the glucokinase gene leading to a lifelong mild hyperglycemia. …”
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Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopa... by Sorina Boiu, Nikolaos Paschalidis, George Sentis, Theodora Manolakou, Andrianos Nezos, Manolis Gialitakis, Maria Grigoriou, Erato Atsali, Melpomeni Giorgi, Argirios Ntinopoulos, Clio Mavragani, Periklis Makrythanasis, Dimitrios T. Boumpas, Aggelos Banos

“…Results Next generation exome sequencing confirmed a homozygous SAMHD1 gene mutation and a hemizygous non-synonymous mutation on SMC1A gene, responsible for the AGS and CdLS, respectively. …”
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Comprehensive genomic and transcriptomic profiling of pulmonary nodules in synchronous multiple primary lung cancer by Xingsheng Liu, Kun Qian, Lei Su, Xiaoru Tian, Xin Zhao, Tengteng Wang, Li Han, Zhenzhen Li, Peilong Zhang, Ruotian Wang, Baodong Liu, Yuanbo Li, Xiaogang Tan, Yi Zhang

“…However, a comprehensive understanding of the somatic mutation landscape and transcriptome heterogeneity is lacking. …”
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Colorectal carcinogenesis in the Lynch syndromes and familial adenomatous polyposis: trigger events and downstream consequences by Pål Møller, Aysel Ahadova, Matthias Kloor, Toni T. Seppälä, John Burn, Saskia Haupt, Finlay Macrae, Mev Dominguez-Valentin, Gabriela Möslein, Annika Lindblom, Lone sunde, Ingrid Winship, Gabriel Capella, Kevin Monahan, Daniel D. Buchanan, D. Gareth Evans, Eivind Hovig, Julian R. Sampson

“…Abstract Carcinogenesis encompasses processes that lead to increased mutation rates, enhanced cellular division (tumour growth), and invasive growth. …”
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Torsades de Pointes due to Excessive Marijuana Use in a Susceptible Patient by Vivek D. Shah, Adeba Mohammad, Shuktika Nandkeolyar, Liset Stoletniy, Tahmeed Contractor

“…While she demonstrated normal baseline QTc measurements years earlier, she was found to have a genetic predisposition to QTc prolongation (genetic mutation, family history of prolonged QTc), suggesting that specific patient populations are at higher risk of these adverse events. …”
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Integrated Scheduling of Reheating Furnace and Hot Rolling Based on Improved Multiobjective Differential Evolution by Kun Li, Huixin Tian

“…To achieve the balance of exploration and exploitation, a novel mutation operator with adaptive leader selection, a crossover operator with feasibility consideration, and a guided multiobjective local search are designed. …”
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Novel Likely Pathogenic Variants Identified by Panel-Based Exome Sequencing in Congenital Cataract Patients by Doudou Chen, Tao Yang, Siquan Zhu

“…Genes were selected through reference to databases including the Human Gene Mutation Database (HGMD), Online Mendelian Inheritance in Man (OMIM), Genetic Home Reference, and the latest peer-reviewed publications on the genetics of hereditary cataracts. …”
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Chaos Enhanced Differential Evolution in the Task of Evolutionary Control of Selected Set of Discrete Chaotic Systems by Roman Senkerik, Ivan Zelinka, Michal Pluhacek, Donald Davendra, Zuzana Oplatková Kominkova

“…The novelty of the approach is that the selected controlled discrete dissipative chaotic system is used also as the chaotic pseudorandom number generator to drive the mutation and crossover process in the DE. The idea was to utilize the hidden chaotic dynamics in pseudorandom sequences given by chaotic map to help differential evolution algorithm search for the best controller settings for the very same chaotic system. …”
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Lifecycle-Based Swarm Optimization Method for Numerical Optimization by Hai Shen, Yunlong Zhu, Xiaodan Liang

“…LSO simulates Biological lifecycle process through six optimization operators: chemotactic, assimilation, transposition, crossover, selection, and mutation. In addition, the spatial distribution of initialization population meets clumped distribution. …”
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SOST and DKK: Antagonists of LRP Family Signaling as Targets for Treating Bone Disease by James J. Mason, Bart O. Williams

“…Thus, devising methods to mimic the molecular consequences of this mutation to treat bone diseases associated with low bone mass is a promising avenue to pursue. …”
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Congenital Glaucoma: a Novel Ocular Manifestation of Hajdu-Cheney Syndrome by L. Swan, G. Gole, V. Sabesan, J. Cardinal, D. Coman

“…We describe a hitherto undescribed missense mutation that is predicted to be pathogenic, with functional characterization remaining to be performed. …”
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Familial Mediterranean Fever: Diagnosing as Early as 3 Months of Age by Gonca Keskindemirci, Nuray Aktay Ayaz, Esin Aldemir, Çiğdem Aydoğmuş, Gönül Aydoğan, Sultan Kavuncuoğlu

“…It was learned that her mother had recurrent swelling of her ankle joints. Mutation analysis was performed and two homozygous mutations (M694V and R202Q) were identified. …”
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Case report: Low-dose radiation reverses pembrolizumab resistance in melanoma by Ka Hey Agnes Fong, Isaac Ho, Tsz Him So

“…Immunotherapy has been the mainstay of the initial systemic treatment for metastatic melanoma regardless of the tumor’s genetic mutation status (Atkins et al., 2022). It is known to offer long-term overall and treatment-free survival benefits, also with generally tolerable side effect profiles. …”
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Thyrotoxic Periodic Paralysis: Case Reports and an Up-to-Date Review of the Literature by Abbi Lulsegged, Christina Wlodek, Michela Rossi

“…Recent discovery of a novel mutation in the KCNJ18 gene which codes for an inwardly rectifying potassium channel and is controlled by thyroid hormones may provide greater insight into the pathogenesis of TPP.…”
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Terminal Complement Pathway Deficiency in an Adult Patient with Meningococcal Sepsis by F. Staels, W. Meersseman, P. Stordeur, K. Willekens, S. Van Loo, A. Corveleyn, I. Meyts, G. Meyfroidt, R. Schrijvers

“…We report the case of a young adult with IMD who was found to have a LCD, caused by a compound heterozygous mutation in C6. His vaccination status was optimized and prophylactic antibiotic treatment was initiated. …”
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Pancreatic Cancer: What the Oncologist Can Offer for Palliation by Malcolm J Moore

“…Such an approach is promising for the treatment of pancreatic cancer because this tumour frequently exhibits mutation of the ras gene.…”
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Molecular Profiling: A Case of ZBTB16-RARA Acute Promyelocytic Leukemia by Stephen E. Langabeer, Lisa Preston, Johanna Kelly, Matt Goodyer, Ezzat Elhassadi, Amjad Hayat

“…This technique identified a solitary, low level mutation in the CEBPA gene. Molecular profiling of additional mutations may provide a platform to individualise therapeutic management in patients with this rare form of APL.…”
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Uncommon Presentation of Stromal Tumor Causing Small Bowel Obstruction: A Case Report by Zamin Adigozalli, Rasim Khalilov, Steffen Seyfried

“…Histopathological examination confirmed a PDGFRA mutation, loss of c-kit and DOG 1 expression, and a high mitotic rate, categorizing the tumor as high risk. …”
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Gene Polymorphisms in Chronic Periodontitis by Marja L. Laine, Bruno G. Loos, W. Crielaard

“…A comprehensive search of the literature in English was performed using the keywords: periodontitis, periodontal disease, combined with the words genes, mutation, or polymorphism. Candidate gene polymorphism studies with a case-control design and reported genotype frequencies in CP patients were searched and reviewed. …”
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