Chorioamnionitis: clinical, anamnestic and molecular-genetic parallels by I. V. Ignatko, A. D. Megrabyan, V. M. Anokhina, A. A. Churganova, T. V. Rasskazova, O. V. Zavyalov, V. A. Titov, V. O. Petrova

“…In addition, the combination of alleles TT rs2430561 (IFN-γ)+874, GC+CC rs1800795 (IL-6)-174, AA rs1800450 MBL2 codon 54 was detected in 90.32 % (28/31) vs. 44.44 % (12/27) in main and control group (OR = 11.667; 95 % CI = 2.842-47.886), respectively.Conclusion. …”
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Long-read genome and RNA sequencing resolve a pathogenic intronic germline LINE-1 insertion in APC by Alexandra A. Baumann, Lisanne I. Knol, Marie Arlt, Tim Hutschenreiter, Anja Richter, Thomas J. Widmann, Marcus Franke, Karl Hackmann, Sylke Winkler, Daniela Richter, Isabel Spier, Stefan Aretz, Daniela Aust, Joseph Porrmann, Doreen William, Evelin Schröck, Hanno Glimm, Arne Jahn

“…Targeted RNA analysis revealed aberrant splicing resulting in the formation of a pseudo-exon with a premature stop codon. The variant segregated with the phenotype in several family members allowing its evaluation as likely pathogenic. …”
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Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome by Elisabetta Toriello, Rosa Maritato, Antonio De Rosa, Maria Valeria Esposito, Carla Damiano, Carla Damiano, Carmen Rosano, Emilia Cirillo, Antonietta Tarallo, Antonietta Tarallo, Cosimo Abagnale, Francesca Cillo, Roberta Romano, Laura Grilli, Marika Comegna, Marika Comegna, Giancarlo Blasio, Giancarlo Parenti, Giancarlo Parenti, Enrico Maria Surace, Giuseppe Castaldo, Giuseppe Castaldo, Claudio Pignata, Giuliana Giardino

“…By sequencing the polymerase chain reaction product, we identified a premature stop at codon 269; thus, consequently, no Wiskott-Aldrich syndrome protein (WASp) was detectable in peripheral blood mononuclear cells from the patient. …”
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Distinct chromosomal mutation associated with cefiderocol resistance in Acinetobacter baumannii: a combined bioinformatics and mass spectrometry approach to unveil and validate the... by Lavinia Morosi, Davide Golzato, Linda Bussini, Linda Bussini, Hygerda Guma, Federica Tordato, Federica Armanini, Zian Asif, Zian Asif, Francesco Carella, Francesco Carella, Paola Morelli, Michele Bartoletti, Michele Bartoletti, Giorgio Da Rin, Erminia Casari, Giuseppe Martano, Giuseppe Martano, Maria Rescigno, Maria Rescigno, Nicola Segata, Sara Carloni, Sara Carloni, Valeria Cento, Valeria Cento

“…This mutation causes a premature stop codon, likely impairing the receptor’s function. …”
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Frequency and geographic distribution of gyrA and gyrB mutations associated with fluoroquinolone resistance in clinical Mycobacterium tuberculosis isolates: a systematic review. by Elisea Avalos, Donald Catanzaro, Antonino Catanzaro, Theodore Ganiats, Stephanie Brodine, John Alcaraz, Timothy Rodwell

“…<h4>Conclusions</h4>Molecular diagnostics, specifically the Genotype MTBDRsl assay, focusing on codons 88-94 should have moderate to high sensitivity in most countries. …”
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Isolation and molecular characterization of the FLOWERING LOCUS C gene promoter sequence in radish (Raphanus sativus L.) by Yuan-yuan XU, Jing WANG, Shan-shan NIE, Dan-qiong HUANG, Yan WANG, Liang XU, Rong-hua WANG, Xiao-bo LUO, Li-wang LIU

“…The transcription start site (TSS) was identified at 424 and 336 bp upstream of the start codon in PRsFLC1 and PRsFLC2, respectively. cis-regulatory elements including CGTCA (MeJA-responsive) and ABRE (abscisic acid-responsive) motifs were found in both promoters, while some cis-regulatory elements including TCA element and GARE-motif were present only in PRsFLC1. …”
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Evaluation of Beta Globin Gene Mutations in Beta Thalassemia Carrier Children in Aydın Province and its Environment by Deniz Ilgün, Yusuf Ziya Aral, Mediha Akcan, Özgür Cartı, Gökay Bozkurt

“…In patients with IVS I-110 mutation, mean Hb level was 10.55 gr/dL, MCV level was 58.44 fL, RDW level was 16.51, RBC level was 5680x10⁹/L, HbA2 level was 4.77%, HbF level was 2.34%. Mutations detected in 12 patients with HbF level above 5% were as IVS I-110 (5 people), IVS I-6 T>C Heterozygotes, Codon 39 C>T Heterozygotes, IVS I-116, c.25-26 del AA (plys9Valfs) Heterozygotes, c.27dupG (pSer10valfs*14), c316-373 (IVSII-478 C>A Heterozygotes), -87 C>T Heterozygotes. …”
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Prediction of Water Chemical Oxygen Demand with Multi-Scale One-Dimensional Convolutional Neural Network Fusion and Ultraviolet–Visible Spectroscopy by Jingwei Li, Yijing Lu, Yipei Ding, Chenxuan Zhou, Jia Liu, Zhiyu Shao, Yibei Nian

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DNA Testing Methodology for the Evaluation of Susceptibility to Scrapie in Tsurcana Sheep by Dana-Iuliana Neață, Maria-Mihaela Antofie, Teodor Vintilă

“…By analysing polymorphisms in the PRNP gene at codons 136, 154 and 171, the animals were classified into five different risk categories.  …”
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RNA–DNA Differences: Mechanisms, Oxidative Stress, Transcriptional Fidelity, and Health Implications by Viktor Stolc, Ondrej Preto, Miloslav Karhanek, Friedemann Freund, Yuri Griko, David J. Loftus, Maurice M. Ohayon

“…Furthermore, the prevalence of guanine-rich codons in antioxidant genes increases their susceptibility to ROS-induced oxidative lesions, linking redox stress, genomic instability, and constrained adaptation. …”
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GENE MUTATION PATTERNS OF RIFAMPICIN IN MULTIDRUG RESISTANT MYCOBACTERIUM TUBERCULOSIS COMPLEX STRAINS by Esra Yıldırım Servi, Meltem Uzun

“…This strain was sequenced and detected to have triple mutations. Mutations were found on codons 489, 493, and 503. …”
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Molecular epidemiology of fluoroquinolone resistant Salmonella in Africa: A systematic review and meta-analysis. by Getachew Tadesse, Tesfaye S Tessema, Getenet Beyene, Abraham Aseffa

“…Overall, 23 mutant serotypes were identified, and most strains had mutations at codons encoding Ser83 and Asp87 of gyrA (82%, 95%CI = 78, 86).…”
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SLCO1B3 screening in colorectal cancer patients using High-Resolution Melting Analysis method and immunohistochemistry by Lampri Evangeli, Sainis Ioannis, Kounnis Valentinos, Mitselou Antigony, Ioachim Elli, Hatzimichael Eleftheria, Galani Vasiliki, Briasoulis Evangelos

“…Of great interest, the three samples, which were immunohistochemically negative, all appeared to accommodate mutations which lead to either early stop codons or other conformations of the tertiary protein structures affecting the antibody-epitope binding. …”
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Production of recombinant norovirus VP1 protein and its antigenic and immunogenic properties by Vladislav A. Lapin, Dmitry V. Novikov, Ekaterina V. Mokhonova, Dmitry A. Melentyev, Maria I. Tsyganova, Dmitry E. Zaitsev, Viktor V. Novikov

“…A genetic construct encoding recombinant VP1 of the GII genotype norovirus with codons optimized for highly effective expression in Escherichia coli has been created. …”
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First Complete Genome of Reticuloendotheliosis Virus in a Mallard Duck from Brazil: Phylogenetic Insights and Evolutionary Analysis by Ruy D. Chacón, Claudete S. Astolfi-Ferreira, Stefhany Valdeiglesias Ichillumpa, Henrique Lage Hagemann, Maristela Furlan Rocha, Larissa Fernandes Magalhães, Tânia Freitas Raso, Antonio J. Piantino Ferreira

“…This study reports the first complete genome of REV detected in a mallard duck (<i>Anas platyrhynchos domesticus</i>) in South America. …”
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High frequency of benzimidazole resistance polymorphisms and age-class differences in trichostrongyle nematodes of ranched bison from the south-central United States by Kaylee R. Kipp, Elizabeth M. Redman, Joe L. Luksovsky, Dani Claussen, John S. Gilleard, Guilherme G. Verocai

“…Among the known canonical isotype-1 β-tubulin BZ resistance polymorphisms (at codons 200, 198, 167), the 200Y (TTC > TAC) substitution was the most widespread across the two southern states, with a prevalence of 81.3 %. …”
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Development of ultra-short PCR assay to reveal BRAF V600 mutation status in Thai colorectal cancer tissues. by Nunthawut Chat-Uthai, Pichpisith Vejvisithsakul, Sutthirat Udommethaporn, Puttarakun Meesiri, Chetiya Danthanawanit, Yannawan Wongchai, Chinachote Teerapakpinyo, Shanop Shuangshoti, Naravat Poungvarin

“…Forward primer designed for BRAF V600E detection is capable of recognizing both types of BRAF V600E mutation, i.e. …”
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STUDY OF THE RELATIONSHIP BETWEEN KRAS GENE MUTATIONS AND GENDER, AGE AND RACE IN COLORECTAL CANCER PATIENTS RESIDING IN THE REPUBLIC OF KAZAKHSTAN by D. R. Kaydarova, K. K. Smagulova, N. A. Chichua, E. A. Ukolova, A. Z. Kurmankulova, E. I. Ishkinin

“…KRAS test was performed using BioLink kits to detect mutations in 12 and 13 codons of 2 exon using allele-specific PCR method. …”
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Early posttranscriptional response to tetracycline exposure in a gram-negative soil bacterium reveals unexpected attenuation mechanism of a DUF1127 gene by Jennifer A. F. Kothe, Till Sauerwein, Theresa Dietz, Robina Scheuer, Muhammad Elhossary, Susanne Barth-Weber, Jan Wähling, Konrad U. Förstner, Elena Evguenieva-Hackenberg

“…However, polar differential expression pattern was observed: Mostly, upregulated genes were first and downregulated genes downstream in operons. Furthermore, we detected mRNA stabilization upon Tc exposure for several up- and down-regulated genes. …”
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The evolution of Vp1 gene in enterovirus C species sub-group that contains types CVA-21, CVA-24, EV-C95, EV-C96 and EV-C99. by Teemu Smura, Soile Blomqvist, Tytti Vuorinen, Olga Ivanova, Elena Samoilovich, Haider Al-Hello, Carita Savolainen-Kopra, Tapani Hovi, Merja Roivainen

“…Signs of positive selection were detected in some of these highly polymorphic sites, while strong negative selection was indicated in most of the codons. …”
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