Middle East respiratory syndrome coronavirus (MERS-CoV) internalization does not rely on DPP4 cytoplasmic tail signaling by Karthika Thankamani, Divakar Shubham, Gayatri Kandpal, Ann Mary Isaac, Modenkattil Sethumadhavan Kavitha, V. Stalin Raj

“…However, the role of the cytoplasmic tail in the entry process remains unclear. Here, we show that mutating or deleting individual aa residues or the entire cytoplasmic tail of DPP4 (ΔcytDPP4) does not completely prevent DPP4 from being inserted into the membrane or from allowing the binding of the MERS-CoV spike protein and pseudovirus infection. …”
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Investigating ITM2B‐associated ataxia in a Taiwanese cerebellar ataxia cohort by Shih‐Yu Fang, Cheng‐Tsung Hsiao, Kang‐Yang Jih, Yu‐Sheun Tsai, Kuan‐Lin Lai, Cheng‐Ta Chou, Yi‐Chu Liao, Yi‐Chung Lee

“…Interpretation ITM2B mutations accounted for 1.4% of cerebellar ataxia cases in the Taiwanese cohort, with patients carrying ITM2B c.800G>T descending from a common ancestor. …”
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YHSeqY3000 panel captures all founding lineages in the Chinese paternal genomic diversity database by Mengge Wang, Shuhan Duan, Qiuxia Sun, Kaijun Liu, Yan Liu, Zhiyong Wang, Xiangping Li, Lanhai Wei, Yunhui Liu, Shengjie Nie, Kun Zhou, 10K_CPGDP consortium, Yongxin Ma, Huijun Yuan, Bing Liu, Lan Hu, Chao Liu, Guanglin He

“…Objectives This study aimed to develop the highest-resolution Y-targeted sequencing panel, utilizing time-stamped, core phylogenetic informative mutations identified from high-coverage sequences in the YanHuang cohort. …”
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Genomic data suggest parallel dental vestigialization within the xenarthran radiation by Emerling, Christopher A, Gibb, Gillian C, Tilak, Marie-Ka, Hughes, Jonathan J, Kuch, Melanie, Duggan, Ana T, Poinar, Hendrik N, Nachman, Michael W, Delsuc, Frédéric

“…We tested these competing hypotheses by examining 11 core dental genes in most living species of Xenarthra, characterizing shared inactivating mutations and patterns of relaxed selection during their radiation. …”
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Multidisciplinary, multicenter consensus for the care of patients affected with Sturge–Weber syndrome by May El Hachem, Andrea Diociaiuti, Angela Galeotti, Francesca Grussu, Elena Gusson, Alessandro Ferretti, Carlo Efisio Marras, Davide Vecchio, Simona Cappelletti, Mariasavina Severino, Carlo Gandolfo, Simone Reali, Rosa Longo, Carmen D’Amore, Lodovica Gariazzo, Federica Marraffa, Marta Luisa Ciofi Degli Atti, Maria Margherita Mancardi, and the Sturge-Weber Syndrome Multidisciplinary Group

“…Abstract Background Sturge–Weber Syndrome (SWS) is a rare, sporadic neurocutaneous disorder affecting the skin, brain, and eyes, due to somatic activating mutations in GNAQ or, less commonly, GNA11 gene. It is characterized by at least two of the following features: a facial capillary malformation, leptomeningeal vascular malformation, and ocular involvement. …”
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Effects of perioperative treatment of resectable adenocarcinoma of esophagogastric junction by immunotherapy (Adebrelimab) combined with chemotherapy (XELOX): protocol for a single... by Yingyi Li, Yuqin Cao, Xipeng Wang, Chengqiang Li, Liqin Zhao, Hecheng Li

“…The exploratory outcomes are the biomarkers related to therapeutic efficacy, such as PD-L1 expression, microsatellite instability (MSI), tumor mutational burden(TMB), Epstein-Barr virus(EBV) infection, and circulating tumor DNA(ctDNA). …”
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Identification and characterization of the functional tetrameric UDP-glucose pyrophosphorylase from Klebsiella pneumoniae by Isabel Ramón Roth, Pavel Kats, Timm Fiebig, Françoise Routier, Roman Fedorov, Larissa Dirr, Jana I. Führing

“…Here, we show that the galF gene of the opportunistic pathogen Klebsiella pneumoniae encodes a dimeric protein that has lost UGP activity, likely due to a combination of active site mutations and an inability to tetramerize, whereas the functional K. pneumoniae UGP, encoded by galU, is an active tetramer. …”
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The concept of natural genome reconstruction. Part 1. Basic provisions of the “natural genome reconstruction” concept. Changing the genome of hematopoietic stem cells using several... by L. A. Yakubov, O. S. Taranov, S. V. Sidorov, S. D. Nikonov, A. A. Ostanin, E. R. Chernykh, N. A. Kolchanov, S. S. Bogachev

“…It is assumed that as a result of stochastic acts of homologous exchange, chromosome loci are corrected in hematopoietic stem cells that have acquired mutations during the existence of the organism, which are the cause of clonal hematopoiesis associated with old age. …”
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Tumor tissue samples collection for scientific research in morphology and molecular oncology by O. R. Khabarov, B. D. Seferov, K. A. Aliev, D. V. Zima, E. P. Golubinskaya, E. Yu. Zyablitskaya

“…It is necessary to consider the regional and ethnic specifics of the population, which determines the sampling and mutational load. The laboratory must initiate an addition to the informed consent of patients about the possibility of conducting morphological and molecular genetic studies for scientific purposes and publishing their results in a depersonalized form for the development of new elaborations, when signing the contracts with legal entities and individuals and when serving patients within an institution. …”
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Evaluation of plasma cell sorting methods in multiple myeloma patients: flow cytometry versus magnetic beads by Yu Jeong Choi, Jaeguk Choi, Yehyun Kang, Saeam Shin, Seung-Tae Lee, Jong Rak Choi

“…However, detecting sensitive genetic mutations poses challenges due to the heterogeneous nature of the cell population in bone marrow aspiration. …”
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Passive infusion of an S2-Stem broadly neutralizing antibody protects against SARS-CoV-2 infection and lower airway inflammation in rhesus macaques. by Christopher T Edwards, Kirti A Karunakaran, Elijah Garcia, Nathan Beutler, Matthew Gagne, Nadia Golden, Hadj Aoued, Kathryn L Pellegrini, Matthew R Burnett, Christopher Cole Honeycutt, Stacey A Lapp, Thang Ton, Mark C Lin, Amanda Metz, Andrei Bombin, Kelly Goff, Sarah E Scheuermann, Amelia Wilkes, Jennifer S Wood, Stephanie Ehnert, Stacey Weissman, Elizabeth H Curran, Melissa Roy, Evan Dessasau, Mirko Paiardini, Amit A Upadhyay, Ian N Moore, Nicholas J Maness, Daniel C Douek, Anne Piantadosi, Raiees Andrabi, Thomas R Rogers, Dennis R Burton, Steven E Bosinger

“…Viral genome sequencing demonstrated a lack of escape mutations in the CC40.8 epitope. Collectively, these data demonstrate the protective efficiency of broadly neutralizing S2-targeting antibodies against SARS-CoV-2 infection within the lower airway while providing critical preclinical work necessary for the development of pan-β-CoV vaccines.…”
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A more significant role for insertion sequences in large-scale rearrangements in bacterial genomes by Wing Y. Ngan, Lavisha Parab, Frederic Bertels, Jenna Gallie

“…Our research highlights the importance of insertion sequences for the generation of large-scale genomic rearrangements and raises questions concerning the mechanistic basis of these mutations.…”
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Venous thromboembolic events: case history by T.V. Shelkovnikova, Kh.P. Takhchidi, G.V. Vavin, N.Yu. Shishlyannikova

“…Genetic testing for mutations and hemostasis gene polymorphism as well as testing for antiphospholipid antibodies have clarified the recurrences of venous thromboses of various localization. …”
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Disease-Associated Dopamine Receptor D2 Variants Exhibit Functional Consequences Depending on Different Heterotrimeric G-Protein Subunit Combinations by Nele Niebrügge, Olga Trovato, Roman Praschberger, Andreas Lieb

“…DRs are essential for mediating various downstream signaling cascades and play a critical role in regulating the dopaminergic nigrostriatal pathway, which is involved in motor control. Recently, mutations in DRD2 (WT), p.Ile212Phe (I212F), and p.Met345Arg (M345R) have been associated with hyperkinetic movement disorders and shown to alter heterotrimeric G-protein complex signaling and β-arrestin recruitment. …”
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Skin-associated Corynebacterium amycolatum shares cobamides by M. H. Swaney, N. Henriquez, T. Campbell, J. Handelsman, L. R. Kalan

“…We also generated a C. amycolatum non-cobamide-producing strain (cob–) using UV mutagenesis that contains mutated cobamide biosynthesis genes cobK (precorrin-6X reductase) and cobO (corrinoid adenosyltransferase) and confirm that disruption of cobamide biosynthesis abolishes the support of E. coli growth through cobamide sharing. …”
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Case report: Chemotherapy plus sintilimab for the treatment of gastroesophageal junction hepatoid adenocarcinoma with liver metastasis: a case study with literature review by Genlin Lu, Jiarui Tu, Jinming Tu, Renya Jiang

“…The NGS report of GEJ mass indicated that the JAK2 and TP53 genes harbored missense mutations, while the MLH1, MSH2, MSH6, PMS2, ERBB2, EGFR, PIK3CA, APC, CTNNB1, CDH1, and DPYD genes were normal. …”
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Phenotypic and genotypic drug susceptibility patterns of Mycobacterium tuberculosis isolates from pulmonary tuberculosis patients in Central and Southern Ethiopia. by Melaku Tilahun, Teklu Wegayehu, Biniam Wondale, Tewdros Tariku Gebresilase, Tesfaye Gebreyohannes, Abraham Tekola, Mekdes Alemu, Sebsib Neway, Bethlehem Adnew, Maeruf Fetu Nassir, Yonas Kassahun, Abraham Aseffa, Kidist Bobosha

“…According to the findings, 14.4% (36/250) of the isolates tested positive for resistance to at least one anti-TB drug. Gene mutations were observed only in the rpoB and katG gene loci, indicating RIF and high-level INH resistance. …”
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Primary HIV Drug Resistance among Recently Infected Cases of HIV in North-West India by C. K. Chauhan, P. V. M. Lakshmi, V. Sagar, A. Sharma, S. K. Arora, R. Kumar

“…The proportion of primary drug resistance was 22.2% (2/9) among female sex workers, 14.3% (1/7) among men having sex with men, and 14.3% (3/21) among injecting drug users. Observed mutations were K219R, L74V, K219N, and Y181C. Injecting drug user (IDU) has showed resistance to either nucleoside/nucleotide reverse transcriptase inhibitors (NRTI) or nonnucleotide reverse transcriptase inhibitors (NNRTI). …”
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GENETIC SOURCES FOR BREEDING BUSHY AND SHORT-VINE WATERMELON CULTIVARS by G. A. Tekhanovich, A. G. Elatskova, Yu. A. Elatskova

“…When studying the collection of watermelon, it is important to disclose its genetic potential by identifying spontaneous mutations, using its accessions in crosses, and analyzing inheritance of its main traits in hybrids. …”
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Exploring the immunohistochemical profile of basosquamous carcinoma and its clinicopathological associations by Cemile Tuğba Altunel, Gonca Özgün, Arzu Karataş, Özlem Özen, Deniz Seçkin, Tülin Güleç, Deren Özcan

“…Despite an unknown molecular pathogenesis, specific mutations are associated with its squamatization. Immunohistochemical studies offer insights into the tumor's genetic background. …”
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