Development and Validation of an Immunotherapy-Related Prognostic Signature Based on Lymph Node Ratio for Gastric Cancer by Jianxin Li, Ting Han, Xin Wang, Yinchun Wang, Xuan Chen, Wangsheng Chen, Qingqiang Yang

“…We then evaluated the risk score signature from the viewpoints of survival, clinic-pathological characteristics, tumor microenvironment (TME), tumor mutation burden (TMB), and immunotherapeutic and chemotherapeutic efficacy. …”
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Absence of Substantial Copy Number Differences in a Pair of Monozygotic Twins Discordant for Features of Autism Spectrum Disorder by Marina Laplana, José Luis Royo, Anton Aluja, Ricard López, Damiàn Heine-Sunyer, Joan Fibla

“…This forwards future research to explore de novo point mutation and epigenomic alterations as potential explanations of the observed clinical differences.…”
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PYROSEQUENCING: ITS POTENTIAL AND LIMITATIONS IN DIAGNOSIS OF INHERITED DISEASES IN CATTLE by Н. A. Kirsanova, A. V. Sukhoedova, M. A. Pleskacheva, I. V. Soltynskaya, I. A. Timofeeva, О. V. Prasolova, E. V. Krylova

“…In particular, more than 500 genetically determined morphological and functional disorders have been detected in cattle; for 150 of them, specifi c mutations are known. The sale of bovine genetic materials is associated with the spread of various diseases caused by mutations that occur in the prominent representatives of breeds. …”
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A Dose-Response Relationship to Radiotherapy for Cutaneous Lesions of Langerhans Cell Histiocytosis by Mark K. Farrugia, Carl Morrison, Francisco Hernandez-Ilizaliturri, Saif Aljabab

“…Following RT treatments, the patient was found to have a BRAF mutation, and vemurafenib was initiated. Further follow-up with positron emissions tomography demonstrated complete metabolic response in numerous disease areas, including both axillae. …”
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Analysis of the Thymidylate Synthase Gene Structure in Colorectal Cancer Patients and Its Possible Relation with the 5-Fluorouracil Drug Response by A. Calascibetta, Flavia Contino, S. Feo, G. Gulotta, M. Cajozzo, A. Antona, G. Sanguedolce, R. Sanguedolce

“…We performed the TS-DNA gene sequence in 68 CRC from patients of A, B, and C Dukes' stages and different histological grade, but we did not find any mutation in the TS-DNA structure. In the future we intend to widen the TS structure analysis to the metastatic CRCs, because due to their higher genomic instability, they could present a TS variant form responsible of the fluoropyrimidines drug resistance and the worse prognosis.…”
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A Helicobacter pylori flagellar motor accessory is needed to maintain the barrier function of the outer membrane during flagellar rotation. by Kyle Rosinke, Shoichi Tachiyama, Jan Mrásek, Jun Liu, Timothy R Hoover

“…A variant of the Δhp0838 mutant containing a frameshift mutation in pflA, which resulted in paralyzed flagella, displayed wild-type growth rate and resistance to bacitracin, suggesting the fitness defect and antibiotic sensitivity of the Δhp0838 mutant are dependent on flagellar rotation. …”
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Metastatic Extramammary Paget’s Disease of Scrotum Responds Completely to Single Agent Trastuzumab in a Hemodialysis Patient: Case Report, Molecular Profiling and Brief Review of t... by Peter Barth, Essel Dulaimi Al-Saleem, Kristin W. Edwards, Sherri Z. Millis, Yu-Ning Wong, Daniel M. Geynisman

“…In addition, multiple protein overexpression and loss were seen in EMPD including PD-1, PD-L1, PTEN, and AR as well as PIK3CA mutation. These findings may lead to possible therapeutic interventions targeting these pathways in a disease with few effective treatment options.…”
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Predictive Analysis of Economic Chaotic Time Series Based on Chaotic Genetics Combined with Fuzzy Decision Algorithm by Xiuge Tan

“…The study results show that the algorithm of chaotic genetics combined with fuzzy decision-making can dynamically adjust chaotic mutation operators and summarize fussy expert experiences. …”
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Research on the Creep and Fatigue Evaluation Method of the Double-Layered Annulus Metal Hydride Bed Combined with Numerical Modeling and ASME Code by Ping Zhao, XiangGuo Zeng, Huayan Chen, Xiuming Zhang

“…According to the proposed analysis method, the maximum stress of thermal-structural coupling in the process of hydrogen absorption occurs at about 1/3 along the diameter direction and at the geometric mutation of the connection between the cooling pipe and the main body of the hydrogen storage bed in the process of hydrogen desorption. …”
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Molecular Phylogenetic Relationships Based on Mitogenomes of Spider: Insights Into Evolution and Adaptation to Extreme Environments by Rongxiang Zhang, Niyan Xiang, Xiaoman Gao, Guiyu Zhang, Tian Lu, Tao Yuan

“…Codon usage frequencies were similar between families and codon usage in the mitogenome of spiders was mainly influenced by natural selection pressures rather than G/C mutation bias. Our phylogenetic topology clearly explained the evolutionary relationships among the spiders, and divergence time estimates indicated that the spiders originated in the early Devonian, and that the two clades of Mesothelae and Opisthothelae separated in the late Carboniferous. …”
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Liver and spleen elastography in diagnosis of extrahepatic portal vein obstruction: pilot study by M. Yu. Nadinskaya, Ye. O. Liusina, Ch. S. Pavlov

“…Following causes for PVT were established: systemic factors - myeloproliferative diseases, G20210A prothrombin gene mutation, and local factors: complications after pancreatobiliary surgery, omphalitis and neonatal umbilical sepsis. …”
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Casein Kinases 2-dependent phosphorylation of the placental ligand VAR2CSA regulates Plasmodium falciparum-infected erythrocytes cytoadhesion. by Dominique Dorin-Semblat, Jean-Philippe Semblat, Romain Hamelin, Anand Srivastava, Marilou Tetard, Graziella Matesic, Christian Doerig, Benoit Gamain

“…Furthermore, using CRISPR/Cas9 we generated a parasite line in which phosphoresidue S1068 was changed to alanine. This mutation strongly impairs infected erythrocytes adhesion by abolishing VAR2CSA translocation to the surface of infected erythrocytes. …”
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Potential Antioxidant Role of Tridham in Managing Oxidative Stress against Aflatoxin-B1-Induced Experimental Hepatocellular Carcinoma by Vijaya Ravinayagam, Ravindran Jaganathan, Sachdanandam Panchanadham, Shanthi Palanivelu

“…Significant exposure to Aflatoxin B1 (AFB1), a potent hepatotoxic and hepatocarcinogenic mycotoxin, plays a major role in liver carcinogenesis through oxidative tissue damage and p53 mutation. The present study emphasizes the anticarcinogenic effect of Tridham (TD), a polyherbal traditional medicine, on AFB1-induced HCC in male Wistar rats. …”
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IPEX Syndrome with Normal FOXP3 Protein Expression in Treg Cells in an Infant Presenting with Intractable Diarrhea as a Single Symptom by Ali Al Maawali, Beata Derfalvi, Johan Van Limbergen, Andrew Issekutz, Thomas Issekutz, Hasan Ghandourah, Mohsin Rashid

“…Sequencing of the FOXP3 gene should always be considered for accurate diagnosis to look for mutations even in the face of normal FOXP3 protein expression in the Treg cell.…”
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Multidirectional sexual dimorphism for the live weight in domestic pigs by S. V. Nikitin, S. P. Knyazev, K. S. Shatokhin, G. M. Goncharenko, V. I. Ermolaуev

“…Finally, reverse sexual dimorphism may be due to a tendency towards early obesity in females, which might be to a single mutation as its genetic cause.…”
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The AST/ALT (De Ritis) ratio as a significant prognostic factor in myelodysplastic syndrome by Ying Chen, Yue Wu, Ting Chen, Duobing Zou, Cong Shi, Ningning Wu, Lixia Sheng, Guifang Ouyang, Qitian Mu

“…Conclusions: Our study suggests that the AST/ALT ratio could be a simple and economic prognostic indicator for MDS and be used as a supplement to IPSS-R, especially when lacking of karyotype or mutation data.…”
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Protective Effects of Garlic and Cinnamon Oils on Hepatocellular Carcinoma in Albino Rats by Salah M. Aly, Hamdy A. Fetaih, Abeer A. I. Hassanin, Mosleh M. Abomughaid, Aliaa A. Ismail

“…The present work is aimed at evaluating the protective effect of garlic oil and cinnamon oil on diethylnitrosamine- (DENA-) and 2-acetylaminofluorene- (2-AAF-) induced p53 gene mutation and hepatocarcinogenesis in rats. Forty male albino rats were divided into 4 equal groups: control, hepatocellular carcinoma (HCC), garlic oil-HCC, and cinnamon oil-HCC. …”
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Restoration of Genetic Code in Macular Mouse Fibroblasts via APOBEC1-Mediated RNA Editing by Sonali Bhakta, Hiroko Kodama, Masakazu Mimaki, Toshifumi Tsukahara

“…Here, we generated plasmids encoding the MS2 system and the APOBEC1 deaminase domain and used a guide RNA with flanking MS2 sites to restore mutated <i>Atp7a</i> in fibroblasts from a macular mouse model of Menkes disease withs T>C mutation. …”
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Clinical Manifest X-Linked Recessive Adrenoleukodystrophy in a Female by Gyda Hlin Skuladottir Jack, Karolina Malm-Willadsen, Anja Frederiksen, Dorte Glintborg, Marianne Andersen

“…Seven years prior to this finding, the patient had been found to be heterozygous for the missense mutation c.1679C> T, p.Pro560Leu on the ABCD1 gene (ATP-Binding Cassette subfamily D1). …”
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Association of COMT Val158Met Polymorphism with Fibromyalgia in Khartoum State, Sudan by Safaa Mamoun Abdelmageid, Faisal Mousa Alamir, Hassan Yousif Abdelrahman, Hind Mohamed Abushama

“…Samples were genotyped for COMT single nucleotide polymorphism rs4680 (Val158Met), using the amplification-refractory mutation system (ARMS-PCR). Genotyping data have been analyzed using the Chi-square and Fisher exact test. …”
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