Correlations of gene expression, codon usage bias, and evolutionary rates of the mitochondrial genome show tissue differentiation in Ophioglossum vulgatum by Jing Hao, Yingyi Liang, Ting Wang, Yingjuan Su

“…Codon usage bias was influenced by both mutation and selection, with selection exerting a greater impact. …”
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[18F]FDG PET-Based Radiomics and Machine Learning for the Assessment of Gliomas and Glioblastomas: A Systematic Review by Francesco Dondi, Roberto Gatta, Maria Gazzilli, Pietro Bellini, Gian Luca Viganò, Cristina Ferrari, Antonio Rosario Pisani, Giuseppe Rubini, Francesco Bertagna

“…Signatures, including radiomics analysis and ML, generally demonstrated a possible diagnostic value to assess different characteristics of gliomas and GBMs, such as the methylation status of the O6-methylguanine-DNA methyltransferase (MGMT) promoter, the isocitrate dehydrogenase (IDH) genotype, alpha thalassemia/mental retardation X-linked (ATRX) mutation status, proliferative activity, differential diagnosis with solitary brain metastases or primary central nervous system lymphoma, and prognosis of these patients. …”
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A hybrid Prairie INFO fission naked algorithm with stagnation mechanism for the parametric estimation of solar photovoltaic systems by Pankaj Sharma, Rohit Salgotra, Saravanakumar Raju, Mohamed Abouhawwash, S. S. Askar

“…The proposed algorithm is a hybrid algorithm based on four algorithms: Prairie Dog, INFO, Fission Fusion and Naked mole-rat (PIFN) algorithm. Five new mutation operators/inertia weights are exploited to make the algorithm self-adaptive in nature. …”
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Base editing HbS to HbG-Makassar improves hemoglobin function supporting its use in sickle cell disease by Zachary Kostamo, Manuel A. Ortega, Chavonna Xu, Patricia R. Feliciano, Elizabeth Budak, Daisy Lam, Valerie Winton, Rebecca Jenkins, Archita Venugopal, Margaret Zhang, John Jamieson, Brent Coisman, Kennedy Goldsborough, Britney Hernandez, Celeste K. Kanne, Erica N. Evans, Jordan Zgodny, Yankai Zhang, Jawa Darazim, Ashwin Patel, Michael A. Pendergast, John Manis, Adam J. Hartigan, Giuseppe Ciaramella, Seung-Joo Lee, S. Haihua Chu, Vivien A. Sheehan

“…The topology of the hemoglobin fold with the βΕ6Α mutation is similar to HbA in the oxy and deoxy states. …”
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Technicolor Middle Ages: (Ex)changes and Transformations from Medieval to Present Day Perception of Colour by Agnès Blandeau

“…Malgré leur irréalité de pacotille, The Adventures of Robin Hood, Ivanhoe et The Knights of the Round Table parviennent à vibrer des couleurs médiévales, dont nous tentons de questionner ici la diversité des perceptions et des références à celles-ci, ainsi que l’incessante mutation des différents usages dont elles ont fait l’objet et des diverses connotations qu’elles ont pu revêtir.…”
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The heterogeneity of NOTCH1 to tumor immune infiltration in pan-cancer by XiaoJun Duan, Rihan Wu, Mingyang Zhang, Kexin Li, Lei Yu, Huirong Sun, Xingxia Hao, Changshan Wang

“…We further analyzed the changes of immune infiltration in pan-carcinoma species from the perspectives of NOTCH1 expression, mutation, gene function, tumor metastasis and drugs. …”
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Characterization of G2/M checkpoint classifier for personalized treatment in uterine corpus endometrial carcinoma by Yiming Liu, Yusi Wang, Shu Tan, Xiaochen Shi, Jinglin Wen, Dejia Chen, Yue Zhao, Wenjing Pan, Zhaoyang Jia, Chunru Lu, Ge Lou

“…The differences in biological and clinical features of different subtypes were compared through survival analysis, clinical characteristics, immune infiltration, tumor mutation burden, and drug sensitivity analysis. Ultimately, an artificial neural network (ANN) and machine learning were employed to develop the G2MC subtypes classifier. …”
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Economic evaluation of encorafenib with cetuximab in patients with BRAF V600E-mutant metastatic colorectal cancer in France: a cost-effectiveness analysis using data from the BEACO... by David Malka, Philippe Laramée, Mondher Toumi, Jean-Baptiste Trouiller, Bérengère Macabeo, Andrew Poll, Dan Howard, Andy Buckland, Marine Sivignon, Emilie Clay, Emmanuelle Samalin

“…Encorafenib with cetuximab was considered cost-effective compared with the three comparators at a willingness to pay threshold of €90 000/QALY, with probabilities of being cost-effective of 89.8%, 98.2% and 86.4%, respectively.Conclusions This analysis showed encorafenib with cetuximab to be a cost-effective treatment in mCRC patients with a BRAF V600E mutation.…”
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Two Portuguese Cochlear Implanted Dizygotic Twins: A Case Report by Joana Rita Chora, Helena Simões-Teixeira, Tiago Daniel Matos, Jorge Humberto Martins, Marisa Alves, Raquel Ferreira, Luís Silva, Carlos Ribeiro, Graça Fialho, Helena Caria

“…The twin girl and the father were homozygous for the c.35delG mutation in the GJB2 gene, while the twin boy and the mother were compound heterozygotes, both monoallelic for c.35delG and for the deletion del(GJB6-D13S1830) in the GJB6 gene. …”
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The Batten disease gene Cln3 is required for the activation of intestinal stem cell during regeneration via JAK/STAT signaling in Drosophila by Zihua Yu, Zihua Yu, Jinhua Yan, Zhiming Liu, Haiyan Wang, Guanzheng Luo, Haiyang Chen

“…CLN3 mutation causes Juvenile neuronal ceroid lipofuscinosis (JNCL, also known as Batten disease), an early onset neurodegenerative disorder. …”
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Molecular Mechanisms of Neurodegeneration Related to C9orf72 Hexanucleotide Repeat Expansion by Mirjana Babić Leko, Vera Župunski, Jason Kirincich, Dinko Smilović, Tibor Hortobágyi, Patrick R. Hof, Goran Šimić

“…An earlier discovery that a hexanucleotide repeat expansion mutation in chromosome 9 open reading frame 72 (C9orf72) gene causes ALS and FTD established a special subtype of ALS and FTLD with TDP-43 pathology (C9FTD/ALS). …”
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Desmin‐related myopathy characterized by non‐compaction cardiomyopathy, cardiac conduction defect, and coronary artery dissection by Ran Tamiya, Yuki Saito, Daisuke Fukamachi, Koichi Nagashima, Yoshihiro Aizawa, Kimie Ohkubo, Takumi Hatta, Akira Sezai, Masashi Tanaka, Taisuke Ishikawa, Naomasa Makita, Naokata Sumitomo, Yasuo Okumura

“…Abstract Desmin‐related myopathy (DRM) is a rare heritable cardiac and skeletal muscle disease caused by mutations in the desmin gene (DES). DRM is generally characterized by skeletal muscle weakness, conduction disturbance, and dilated cardiomyopathy. …”
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A system of molecular markers to identify alleles of the Rht-B1 and Rht-D1 genes controlling reduced height in bread wheat by I. V. Porotnikov, O. P. Mitrofanova, O. Yu. Antonova

“…The presence of nonsense mutations was also conf irmed by the results of allele-specif ic PCR. …”
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Body composition changes and clinical outcomes in pediatric cystic fibrosis during 24 months of lumacaftor ivacaftor therapy based on real-world data by Marcell Imrei, Adrienn F. Kéri, Éva Gács, Ildikó Gönczi, Melinda Meláth, Éva Kosaras, Botond Demeter, Csaba Péterfia, Klára Vass, Gyöngyi Székely, Klementina Ocskay, Andrea Párniczky

“…This observational study included pwCF homozygous for F508del mutation treated between 2021 and 2023. We report data for the first 24 months from therapy initiation. …”
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Identification and characterization of Faecalibacterium prophages rich in diversity-generating retroelements by Anastasia Gulyaeva, Lei Liu, Sanzhima Garmaeva, Marloes Kruk, Rinse K. Weersma, Hermie J. M. Harmsen, Alexandra Zhernakova

“…We further note that four of the prophages possess diversity-generating retroelements implicated in rapid mutation of phage genome loci associated with phage–host and phage–environment interactions and analyze the intricate patterns of retroelement activity. …”
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Pheochromocytoma in Congenital Cyanotic Heart Disease by Carmen Aresta, Gianfranco Butera, Antonietta Tufano, Giorgia Grassi, Livio Luzi, Stefano Benedini

“…Screening for germline mutations did not show any genes mutation (investigated mutations: RET, TMEM127, MAX, SDHD, SDHC, SDHB, SDHAF2, SDHA, and VHL). …”
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A Toxicological Evaluation of Methylliberine (Dynamine®) by Timothy S. Murbach, Róbert Glávits, John R. Endres, Amy E. Clewell, Gábor Hirka, Adél Vértesi, Erzsébet Béres, Ilona Pasics Szakonyiné

“…A (1) bacterial reverse mutation test, (2) in vitro mammalian chromosomal aberration test, (3) in vivo mammalian micronucleus test, and (4) 90-day repeated-dose oral toxicity study in rats with a 28-day recovery period were conducted. …”
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A comprehensive comparison of PARP inhibitors as maintenance therapy in platinum-sensitive recurrent ovarian cancer: a systematic review and network meta-analysis by Shiya Ji, Lu Chen, Yebo Yu, Xupeng Chen, Liwen Wei, Lili Gou, Cheng Shi, Susu Zhuang

“…Results Six randomized controlled trials were examined and the four PARPis (olaparib, niraparib, rucaparib and fuluzolparib) have been found to significantly increase the PFS in entire population as well as in subgroups of HRD and BRCAm (BRCA mutation). Only olaparib demonstrated a substantial improvement in OS compared to placebo in entire population (hazard ratio [HR] 0.73; 95% confidence interval [CI] 0.60–0.90), as well as in the subgroup of BRCAm. …”
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Energy-Saving Metro Train Timetable Optimization Method Based on a Dynamic Passenger Flow Distribution by Jingshuang Li, Fuquan Pan, Hailiang Tang, Sen Tong, Lixia Zhang, Xinguang Li, Xiaoxia Yang

“…The PSO-GA structure has PSO as the main body and integrates the chromosome crossover and mutation operations of the GA into the iterative process to improve the search efficiency of the algorithm. …”
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Orphan G protein-coupled receptor GPRC5B controls macrophage function by facilitating prostaglandin E receptor 2 signaling by Jeonghyeon Kwon, Haruya Kawase, Kenny Mattonet, Stefan Guenther, Lisa Hahnefeld, Jamal Shamsara, Jan Heering, Michael Kurz, Sina Kirchhofer, Cornelius Krasel, Michaela Ulrich, Margherita Persechino, Sripriya Murthy, Cesare Orlandi, Christian D. Sadik, Gerd Geisslinger, Moritz Bünemann, Peter Kolb, Stefan Offermanns, Nina Wettschureck

“…Using in silico modelling and docking, we identify residues potentially mediating GPRC5B/EP2 dimerization and show that their mutation results in loss of GPRC5B-mediated facilitation of EP2 signaling. …”
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