Role of Colchicine Treatment in Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS): Real-Life Data from the AIDA Network by Antonio Vitale, Jurgen Sota, Laura Obici, Nicola Ricco, Maria Cristina Maggio, Marco Cattalini, Piero Ruscitti, Francesco Caso, Raffaele Manna, Ombretta Viapiana, Valeria Caggiano, Giacomo Emmi, Antonella Insalaco, Davide Montin, Francesco Licciardi, Alessandra Soriano, Lorenzo Dagna, Carlo Salvarani, Vittoria Lamacchia, José Hernández-Rodríguez, Roberto Giacomelli, Bruno Frediani, Alessandra Renieri, Luca Cantarini

“…There were not significant differences in colchicine response between pediatric and adult disease onset (p=0.42), between low- and high-penetrance mutations (p=0.62), and according to different dosages (p=0.66). …”
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Systematic Characterization of Splicing Dysregulation in Pan Solid Tumor Transcriptome by Jingru Sui, Dan Guo, Xiao Wen, Lei Zhou, Yue Huang, Haoyu Yu, Jinyu Chen, Zhaoqi Liu

“…Abstract Splicing dysregulation arising from spliceosomal mutations contributes to disease progression and treatment resistance, mostly in hematologic malignancy. …”
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Structural Analysis of Inhibitor Binding to Enterovirus-D68 3C Protease by Vincent N. Azzolino, Ala M. Shaqra, Akbar Ali, Nese Kurt Yilmaz, Celia A. Schiffer

“…We have determined and analyzed three high-resolution inhibitor-bound crystal structures of EV68-3C protease, which revealed possible sites of resistance mutations, a key structural water molecule conserved during ligand binding, and the conformational flexibility of the catalytic histidine H40. …”
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Molecular pathways in reproductive cancers: a focus on prostate and ovarian cancer by Ayodeji Folorunsho Ajayi, Mega Obukohwo Oyovwi, Oyedayo Phillips Akano, Grace Bosede Akanbi, Florence Bukola Adisa

“…In prostate cancer, recurrent mutations in genes like AR, TP53, and PTEN drive tumor growth and progression. …”
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Liver GlucokinaseA456V Induces Potent Hypoglycemia without Dyslipidemia through a Paradoxical Induction of the Catalytic Subunit of Glucose-6-Phosphatase by Anna Vidal-Alabró, Alícia G. Gómez-Valadés, Andrés Méndez-Lucas, Jordi Llorens, Ramon Bartrons, Jordi Bermúdez, Jose C. Perales

“…Recent reports point out the importance of the complex GK-GKRP in controlling glucose and lipid homeostasis. Several GK mutations affect GKRP binding, resulting in permanent activation of the enzyme. …”
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Susceptibility to organophosphate insecticides in Aedes aegypti (Diptera: Culicidae) from northern Colombia and associated resistance mechanisms by María Claudia Atencia-Pineda, Javier García-Leal, Diana Diaz-Ortiz, Paula Pareja-Loaiza, Lisandro Pacheco-Lugo, Richard Hoyos-López, Alfonso Calderón-Rangel, Pedro Fragozo-Castilla, Selene M. Gutiérrez-Rodríguez, Adriana E. Flores, Ronald Maestre-Serrano

“…Additionally, the Ace-1 gene was sequenced to identify mutations at the target site of action. Results The populations were susceptible to temephos and malathion but resistant to fenitrothion, and in three of them, to pirimiphos-methyl. …”
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Genomic Variability among Field Isolates and Laboratory-Adapted Strains of Leptospira borgpetersenii Serovar Hardjo by Alejandro Llanes, Carlos Mario Restrepo, Pablo Riesgo-Ferreiro, Sreekumari Rajeev

“…Such differences have been attributed to point mutations in individual genes, although those genes have not yet been characterized. …”
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Wolfram Syndrome: A Case Report and Review of Clinical Manifestations, Genetics Pathophysiology, and Potential Therapies by N. B. Toppings, J. M. McMillan, P. Y. B. Au, O. Suchowersky, L. E. Donovan

“…Classical Wolfram syndrome (WS) is a rare autosomal recessive disorder caused by mutations in WFS1, a gene implicated in endoplasmic reticulum (ER) and mitochondrial function. …”
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Analysis of the Complete Genomes of Enterovirus 71 Subtypes in China by Lei Wang, Yuzhu Dai, Jun Cheng, Changgui Sun, Yu Chen, Dawei Cui

“…The phylogenetic trees were developed by MEGA7.0 software, and the complete genetic epidemiological characteristics and amino acid mutations of EV-A71 from China were also analysed. …”
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Water as the Earth’s Buffer and Immune System by Vladyslav V. Goncharuk

“…It is shown that tap water is the habitat of multiresistant genetically-mutated microorganisms.…”
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Implementation of 454 Life Sciences technology laboratory practices by N. G. Zinyakov, Ye. V. Ovchinnikova, S. P. Lazareva, A. A. Kozlov, I. A. Chvala

“…Recombinations in infectious bronchitis genome were identified, structural and point mutations in fowl adenovirus genome were detect…”
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Gene Editing in Pluripotent Stem Cells and Their Derived Organoids by Hang Zhou, Yun Wang, Li-Ping Liu, Yu-Mei Li, Yun-Wen Zheng

“…These technologies raise concerns regarding ethical issues, unexpected mutations, viral infection, etc. These concerns remain even as new treatments emerge. …”
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Genetic advancements in breast cancer treatment: a review by Marzieh Shokoohi, Sadaf Sedaghatshoar, Homaira Arian, Milad Mokarami, Fatemeh Habibi, Fatemeh Bamarinejad

“…CRISPR/Cas9 enables precise gene editing to correct mutations in oncogenes like HER2 and MYC, directly addressing tumor growth and immune evasion. …”
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The role of Pnut and its functional domains in Drosophila spermatogenesis by K. A. Akhmetova, N. D. Dorogova, E. U. Bolobolova, I. N. Chesnokov, S. A. Fedorova

“…Mutations in the GTPase domain resulted in cyst elongation defects. …”
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Forskolin Stimulates Estrogen Receptor (ER) α Transcriptional Activity and Protects ER from Degradation by Distinct Mechanisms by Houng-Wei Tsai, Vicky Y. Lin, Margaret A. Shupnik

“…We also identified four mutations (L396R, D431Y, Y542F, and K534E/M548V) on the ERα LBD that selectively obliterated the response to forskolin. …”
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Mycobacterium tuberculosis Lineage Distribution Using Whole-Genome Sequencing and Bedaquiline, Clofazimine, and Linezolid Phenotypic Profiles among Rifampicin-Resistant Isolates fr... by Andriansjah Rukmana, Cynthia Gozali, Linda Erlina

“…The isolates showed phenotypically resistance to bedaquiline, clofazimine, and linezolid at 5%, 0%, and 0%, respectively. We identified gene mutations on phenotypically bedaquiline-resistant strains (2/3), and other mutations also found in phenotypically drug-sensitive strains. …”
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Extramacrochaetae regulates Notch signaling in the Drosophila eye through non-apoptotic caspase activity by Sudershana Nair, Nicholas E Baker

“…Accordingly, we found that multiple effects of emc mutations on cell growth and on eye development were all caused by activation of caspases. …”
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ADF1 and BEAF-32 chromatin proteins affect nucleosome positioning and DNA decompaction in 61C7/C8 interband region of Drosophila melanogaster polytene chromosomes by M. B. Schwartz (Berkaeva), T. E. Pankova, S. A. Demakov

“…We show that such mutations led to the collapse of an interband, which was accompanied with increased nucleosome stability. …”
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No Evidence of Abnormal Expression of Beta-Catenin and Bcl-2 Proteins in Pilomatricoma as One Clinical Feature of Tetrasomy 9p Syndrome by Chariyawan Charalsawadi, Sasipong Trongnit, Kanoot Jaruthamsophon, Juthamas Wirojanan, Somchit Jaruratanasirikul, Anupong Nitiruangjaras, Pornprot Limprasert

“…A number of studies have reported some evidence that this disease may have a genetic association with mutations of CTNNB1 gene or expression of the beta-catenin protein. …”
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POLYMORPHISM VITAMIN D RECEPTOR GENE (VDR) BSMI (RS1544410) CHRONIC PERIODONTITIS PATIENT IN JAVANESE BANYUMAS ETHNIC by Ryana Budi Purnama, Setiadi Warata Logamarta, Agung Dhartono

“…Mutated VDR gene causing different effect in a population and ethnic groups, including Javanese Banyumas Ethnic. …”
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