Orphan nuclear receptor NR2E3 is a new molecular vulnerability in solid tumors by activating p53 by Yidan Wang, Todd G. Kroll, Linhui Hao, Zhi Wen

“…Here, we demonstrate that the full-length protein isoform of NR2E3 instead of its short isoform activates wild-type p53 and is capable of rescuing certain p53 mutations in various cancer cell lines. Importantly, we observe a higher frequency of NR2E3 mutations in three solid tumors compared to the reference population, highlighting its potential significance in tumorigenesis. …”
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How to Manage Low Estriol Levels in Pregnancies, One Center Experience by Elif YILMAZ GULEC, Alper GEZDIRICI, Akif AYAZ, Fatma Nihal OZTURK, Ibrahim POLAT

“…Results: Seven of the pregnancies had STS microdeletion syndrome, while additional two cases were supposed to have STS gene mutation according to family and/or postnatal history. …”
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A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases by Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS

“…Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual disability, developmental delay, obesity, and hypotonia. …”
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Kdr genotyping (V1016I, F1534C) of the Nav channel of Aedes aegypti (L.) mosquito populations in Harris County (Houston), Texas, USA, after Permanone 31-66 field tests and its infl... by Jonathan R Hernandez, Michael Longnecker, Chris L Fredregill, Mustapha Debboun, Patricia V Pietrantonio

“…Target site insensitivity to pyrethroids caused by non-synonymous knockdown resistance (kdr) mutations in the voltage-gated sodium (NaV) channel is a predominant mechanism of resistance in mosquitoes. …”
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Characterisation of the antibody-mediated selective pressure driving intra-host evolution of SARS-CoV-2 in prolonged infection. by Michael Schoefbaenker, Theresa Günther, Eva Ulla Lorentzen, Marie-Luise Romberg, Marc Tim Hennies, Rieke Neddermeyer, Marlin Maybrit Müller, Alexander Mellmann, Chiara Robin Bojarzyn, Georg Lenz, Matthias Stelljes, Eike Roman Hrincius, Richard Vollenberg, Stephan Ludwig, Phil-Robin Tepasse, Joachim Ewald Kühn

“…Notably, the composition and frequency of escape mutations changed in a short period with an unprecedented dynamic. …”
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Contribution of OqxAB Efflux Pump in Selection of Fluoroquinolone-Resistant Klebsiella pneumoniae by Orsolya Szabo, Bela Kocsis, Nikolett Szabo, Katalin Kristof, Dora Szabo

“…An amino acid substitution Ser83Tyr in gyrA was detected in K. pneumoniae SE191, but no additional mutations occurred as consequence to ciprofloxacin exposure. …”
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BRAF mutant appendiceal adenocarcinoma differs from colorectal cancer but responds to BRAF-targeted therapy by Vinay K. Pattalachinti, Emaan Haque, Mahmoud Yousef, Abdelrahman Yousef, Saikat Chowdhury, Michael Overman, Christine M. Parseghian, Van K. Morris, Bryan Kee, Ryan W. Huey, Kanwal Raghav, Colin M. Court, John Paul Shen

“…In both cancers, BRAF V600E but not atypical BRAF mutations are mutually exclusive with other Ras-activating mutations. …”
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Genetic, biological and economic evaluation of sweet potato accessions in the collection of the Plant Introduction and Acclimatization Department, Udmurt FRC, UB RAS by A. V. Fedorov, D. A. Zorin, O. A. Ardasheva

“…All accessions were found to represent different genotypes; the VM 17 accession obtained as a result of a bud mutation differed significantly from the original accession in its genotype.Evaluation of 16 accessions of sweet potato cultivars was carried out in a small-plot field experiment. …”
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Genetic Variation and Population Structure in Jamunapari Goats Using Microsatellites, Mitochondrial DNA, and Milk Protein Genes by P. K. Rout, K. Thangraj, A. Mandal, R. Roy

“…The mode-shift test did not detect any distortion of allele frequency and the heterozygosity excess method showed that there was no significant departure from mutation-drift equilibrium detected in the population. …”
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Experience of entecavir in renal graft recipients with chronic hepatitis B by M. L. Zubkin, Ye. P. Sel'kova, F. K. Kokoyeva, T. A. Semenenko, V. I. Chervinko, A. N. Kolomoyets, E. M. Balakirev, A. V. Frolov, T. P. Nekrasova

“…In 2 patients with CHB biochemical remission on background of previous lamivudine (LAM) treatment, who developed YVDD mutation ETV dose was 1 mg/day. One of them was HBeAgnegative prior to onset of LAM treatment, and the other developed HBeAg seroconversion while being at LAM treatment. …”
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The impact of a humanized bile acid composition on atherosclerosis development in hypercholesterolaemic Cyp2c70 knockout mice by Tess Yntema, Tim R. Eijgenraam, Niels J. Kloosterhuis, Rick Havinga, Mirjam H. Koster, Milaine V. Hovingh, Jan Freark de Boer, Debby P. Y. Koonen, Folkert Kuipers

“…We overexpressed a PCSK9 gain-of-function (GOF) mutation in the liver of male Cyp2c70 −/− and Cyp2c70 +/− control mice, and fed these mice a Western-type diet (WD) for 12 weeks. …”
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Allelic differences in the key genes of betalain biosynthesis in table beet accessions with contrasting root color from the VIR collection by A. S. Mikhailova, D. V. Sokolova, N. A. Shvachko, V. S. Popov, E. K. Khlestkina

“…These mutations were probably associated with the expression of the uncolored phenotype. …”
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Study on the Key Technology of Controlling the Instability of Deep High-Stress Coal and Rock Mass and Relieving the Danger by Zhijing Zhang, Jianghong Zuo, Dongji Lei

“…The analysis shows that, before hydraulic caverning, the waveform of coal and rock fracture signal has a short duration, large amplitude, and obvious signal mutation, and the dominant frequency of the signal is about 250 Hz, with large total energy. …”
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Machine Learning for Lung Cancer Subtype Classification: Combining Clinical, Histopathological, and Biophysical Features by Aiga Andrijanova, Lasma Bugovecka, Sergejs Isajevs, Donats Erts, Uldis Malinovskis, Andis Liepins

“…Four key features were identified as highly predictive: sex, vascular invasion, perineural invasion, and ALK mutation. A simplified model using only these features achieved identical performance with significantly reduced complexity (BIC 51.931 vs. 268.586). …”
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Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary cen... by Ahmed Sarar Mohamed, Talal AlAnzi, Amal Alhashem, Hadeel Alrukban, Fahad Al Harbi, Sarar Mohamed

“…This suggests that specific mutation testing may be cost‐effective for individuals from certain ethnicities.…”
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CDC25B Is a Prognostic Biomarker Associated With Immune Infiltration and Drug Sensitivity in Hepatocellular Carcinoma by Zixiang Huang, Liangzhi Xu, Zhengqiang Wu, Xiaofeng Xiong, Linfei Luo, Zhili Wen

“…Finally, we investigated the mutation of CDC25B in HCC and the relationship between CDC25B expression and tumor cell infiltration of lymphocytes and some immune checkpoints as well as drug sensitivity. …”
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Recurrence of a t(8;21)-Positive Acute Myeloid Leukemia in the Form of a Granulocytic Sarcoma Involving Cranial Bones: A Diagnostic and Therapeutic Challenge by Ambra Di Veroli, Alessandro Micarelli, Mariagiovanna Cefalo, Eleonora Ceresoli, Daniela Nasso, Laura Cicconi, Simone Mauramati, Fabrizio Ottaviani, Adriano Venditti, Sergio Amadori

“…Approximately 10% of M2 AML patients will develop GS, as a consequence, the t(8;21) and the relative transcript represent the most common cytogenetic and molecular abnormalities in GS. FLT3-ITD mutation was rarely described in AML patients presenting with GS. …”
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Toll-Like Receptor 4 in Bone Marrow-Derived Cells Contributes to the Progression of Diabetic Retinopathy by Hui Wang, Haojun Shi, Jing Zhang, Guoliang Wang, Jinxiang Zhang, Fagang Jiang, Qing Xiao

“…To further elucidate the mechanism of DR, we used bone marrow transplantation to establish reciprocal chimeric animals of TLR4 mutant mice and TLR4 WT mice combined with diabetes mellitus (DM) induction by streptozotocin (STZ) treatment to identify the role of TLR4 in different cell types in the development of the proinflammatory state during DR. TLR4 mutation did not block the occurrence of high blood glucose after STZ injection compared with WT mice but did alleviate the progression of DR and alter the expression of the small vessel proliferation-related genes, vascular endothelial growth factor (VEGF), and hypoxia inducible factor-1α (HIF-1α). …”
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Optimizing the NGS-based discrimination of multiple lung cancers from the perspective of evolution by Ziyang Wang, Xiaoqiu Yuan, Kunkun Sun, Fang Wu, Ke Liu, Yiruo Jin, Olga Chervova, Yuntao Nie, Airong Yang, Yichen Jin, Jing Li, Yun Li, Fan Yang, Jun Wang, Stephan Beck, David Carbone, Guanchao Jiang, Kezhong Chen

“…Two clonal interpretation approaches primarily applied in clinical practice, MoleA (based on shared mutation comparison) and MoleB (based on probability calculation), were subsequently evaluated. …”
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In-depth Analysis of IS6110 Genomic Variability in the Mycobacterium tuberculosis Complex by Jessica Comín, Jessica Comín, Isabel Otal, Isabel Otal, Isabel Otal, Sofía Samper, Sofía Samper, Sofía Samper

“…The high copy number strains showed 6.2% of their IS6110 copies mutated, in contrast with the 31.1% in the low-copy-number strains. …”
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