Detection and Characterization of Colistin Heteroresistance in an Enterobacter cloacae ST48 Strain Isolated From Raw Milk in Algeria by Sedrati Tahar, Touati Abdelaziz, Tennah Safia, Menoueri M. Nabil, Seydina M. Diene

“…However, multiple non‐synonymous mutations, including a stop‐codon mutation in phoP gene, were found in the resistant subpopulation. …”
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Detection of Hemoglobin Constant Spring by Capillary Electrophoresis and High-performance Liquid Chromatography: A Study in Kelantan, Malay by Sumaiyah Adzahar, Nabilah Rameli, Suryati Hussin, Nik Fatma Fairuz Nik Mohd Hassan, Wan Norhasanah Wan Yusoff, Shafini Mohamed Yusoff, and Rosnah Bahar

“…DNA analysis was used multiplex polymerase chain reaction and multiplex amplification refractory mutation system to detect deletion and non-deletion α-thalassemia. Results: Termination codon CS mutation was confirmed among 376 (99.5%) samples with a peak value in zone 2 of CE. …”
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A novel KRAS exon 2 drop-off digital PCR assay for mutation detection in cell-free DNA of cancer patients by Bianca Addamo-De Nard, Meret Geissmann, Dilara Akhoundova, Clelia Pistoni, Tomas Brezina, Martin Zoche, Achim Weber, Saskia Hussung, Ralph Fritsch

“…We therefore set out to develop a novel KRAS codon 12/13 ddPCR drop-off assay for the robust, highly sensitive and specific detection of KRAS exon 2 hotspot mutations in cfDNA. …”
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Utilizing loop-mediated isothermal amplification (LAMP) for detecting hemoglobin Constant Spring and hemoglobin Pakse mutations amidst the high prevalence and genetic heterogeneity... by Kasama Wongprachum, Nichakan Thitipoomdecha, Phakkamon Ananratanakit, Wattanakit Prakobkul, Unchasa Angkuranak, Nitchagan Sawangkul, Prapaporn Panichchob, Rossarin Karnpean, Wittaya Jomoui

“…These mutations, resulting from stop codon alterations in the α2-globin gene, can lead to severe phenotypes such as non-deletional Hb H disease. …”
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Rapid detection of rifampin resistance in Mycobacterium tuberculosis using nucleotide MALDI-TOF MS: a comparative study with phenotypic drug susceptibility testing and DNA sequenci... by Junxian Zhang, Haiyan Zhang, Jie Wang, Wenna Sun, Yan Liang, Yourong Yang, Qingwei Ma, Xueqiong Wu

“…ABSTRACT Rifampin (RIF) resistance in Mycobacterium tuberculosis (M.tb) is primarily caused by mutations in the rpoB gene. Rapid and accurate detection of RIF resistance is critical for effective tuberculosis (TB) control. …”
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Ultra-rapid analysis of p53 gene for lung cancer diagnosis within 60 s by Yang Yu, Yanguang Ding, Yu Sun, Jing Yang, Liangjie Feng, Chang Liu, Menglong Shu, Fengchao Wang, Jin Chen

“…The detected concentration of the two target samples (codon 249 and codon 248 fragments) featured a well linearity determined by the SDIS method, and the theoretical detection limit could achieve 0.016 62 and 0.054 67 ng/μl, respectively. …”
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Characterization of beta-thalassemia mutations using amplification refractory mutation system (ARMS) technique in Bisha, Saudia Arabia by Khaled Ismail Ghaleb

“…The current study aim to characterized the thalassemia mutations in Bisha,Saudia rabia using amplification refractory mutation system(ARMS) in detection of the IVSI-110, IVSI-6 and codon 39 mutations. …”
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Frequency of rpoB, katG, and inhA Gene Polymorphisms Associated with Multidrug-Resistant Mycobacterium tuberculosis Complex Isolates among Ethiopian TB Patients: A Systematic Revie... by Aynias Seid, Nega Berhane, Semira Nureddin

“…In any RIF-resistant MTBC strains, the most common single point mutations were in codon 531 (S531L) followed by codon 526 (H526Y) of the rpoB gene. …”
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Translational error in mice increases with ageing in an organ-dependent manner by Erik C. Böttger, Harshitha Santhosh Kumar, Adrian Steiner, Emmanuel Sotirakis, Kader Thiam, Patricia Isnard Petit, Petra Seebeck, David P. Wolfer, Dimitri Shcherbakov, Rashid Akbergenov

“…Subsequently, we developed knock-in mice for in-vivo detection of stop-codon readthrough using a gain-of-function Kat2-TGA-Fluc readthrough reporter which combines fluorescent and sensitive bioluminescent imaging techniques. …”
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Genetic polymorphism of hepatitis C virus and risk of hepatocellular carcinoma by S. N. Mammayev, A. M. Karimova

“…In aminoacidic sequences analysis in patients with 1b genotype of HCV mutations with substitution of arginine to glycine in codon 70 (Glu 70) and leucine to methionine in codon 91 (Met 91) were revealed. …”
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Non-Secretor Status Due to <i>FUT2</i> Stop Mutation Is Associated with Reduced Rotavirus Infections but Not with Other Enteric Pathogens in Rwandan Children by Jean Bosco Munyemana, Jean Claude Kabayiza, Eric Seruyange, Staffan Nilsson, Gustaf E. Rydell, Anna Martner, Maria E. Andersson, Magnus Lindh

“…There was no association with any other pathogen, including noroviruses, of which 2 of 14 GII.4 infections were detected among non-secretors. Thus, the <i>FUT2</i> stop codon variant was associated with rotavirus but not with any other pathogen.…”
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Enhancing nucleotide sequence representations in genomic analysis with contrastive optimization by Mohammadsaleh Refahi, Bahrad A. Sokhansanj, Joshua C. Mell, James R. Brown, Hyunwoo Yoo, Gavin Hearne, Gail L. Rosen

“…Abstract Analysis of genomic and metagenomic sequences is inherently more challenging than that of amino acid sequences due to the higher divergence among evolutionarily related nucleotide sequences, variable k-mer and codon usage within and among genomes of diverse species, and poorly understood selective constraints. …”
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BETA-GLOBIN GENE MUTATIONS IN TURKISH CHILDREN WITH BETA-THALASSEMIA: RESULTS FROM A SINGLE CENTER STUDY by Ali Fettah, Cengiz Bayram, Nese Yarali, Pamir Isik, Abdurrahman Kara, Vildan Culha, Bahattin Tunc

“…Overall, 18 different mutations were detected on 212 alleles. The most frequently encountered mutation was IVS I.110 (G>A) (35.3%), followed by Codon 8 del-AA (10.4%), IVS II.1 (G>A) (8%), IVS I.1 (G>A) (7.5%), Codon 39 (C>T) (7.1%) and Codon 5 (-CT) (6.6%), which made up 79.4% of observed mutations. …”
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Frequency of mutational changes in the embB among the ethambutol-resistant strains of Mycobacterium tuberculosis in Iran by Faranak Rezaei, Mehri Haeili, Parviz Mohajeri, Abdolrazagh Hashemi Shahraki, Abbas Ali Imani Fooladi, Fatemeh Zahednamazi, Mohammad Mehdi Feizabadi

“…Introduction: Early detection of drug resistant tuberculosis is one of the main priorities of TB control program. …”
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INVESTIGATION OF RANGES AND FREQUENCY OF MUTATIONS IN THE embB GENE IN MYCOBACTERIUMTUBERCULOSIS ASSOCIATED WITH RESISTANCE TO ETHAMBUTOL USING REAL-TIME POLYMERASE CHAINREACTION by Yu. S. Аlyapkinа, E. E. Lаrionovа, T. G. Smirnovа, Ya. I. Аlekseev, L. N. Chernousovа, M. A. Vlаdimirskiy

“…Based on real-time allele-specific polymerase chain reaction, the ranges of potential mutations in codons of 306 and 405 of the embBgene in Mycobacterium tuberculosis associated with resistance to ethambutol were investigated. 5 different mutations were detected in codon 306 and 3 mutations were found in codon 406 of the embB gene. …”
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Intra-tumoral Heterogeneity of KRAS and BRAF Mutation Status in Patients with Advanced Colorectal Cancer (aCRC) and Cost-Effectiveness of Multiple Sample Testing by Susan D. Richman, Philip Chambers, Matthew T. Seymour, Catherine Daly, Sophie Grant, Gemma Hemmings, Philip Quirke

“…DNA was genotyped by pyrosequencing for KRAS codons 12, 13 and 61 and BRAF codon 600. In patients with heterogeneous mutation status, DNA cocktails were prepared and genotyped. …”
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Expression of a humanized viral 2A-mediated lux operon efficiently generates autonomous bioluminescence in human cells. by Tingting Xu, Steven Ripp, Gary S Sayler, Dan M Close

“…<h4>Methodology/principal findings</h4>The lux cassette was codon optimized and assembled into a synthetic human expression operon using viral 2A elements as linker regions. …”
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Fluoroquinolone resistance in Campylobacter jejuni and Campylobacter coli from poultry and human samples assessed by PCR-restriction fragment length polymorphism assay. by Yuli Melisa Sierra-Arguello, Thales Quedi Furian, Gustavo Perdoncini, Hamilton L S Moraes, Carlos T P Salle, Laura B Rodrigues, Luciana Ruschel Dos Santos, Marcos José Pereira Gomes, Vladimir Pinheiro do Nascimento

“…This mutation can be analyzed by PCR-RFLP assay, which has been proven to be a simple and fast method for the detection of fluoroquinolone resistance in Campylobacter spp.…”
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An Enrichment Method of Cell-free Fetal DNA from Mothers in the 11th Week of Pregnancy; On The Way of Non-invasive Prenatal Diagnosis of Beta-thalassemia as a Single Gene Disorder by E. Darabi, N. Ebadi, S. Mehrabi, A. Shakoori, M.R. Noori Daloii

“…When both paternal and maternal mutations were identical IVSII-1 or FR codon 8/9, all three major thalassemic fetuses were detected by significant minus ∆Cts (Ct M-CtW) but no different ∆Cts was observed in seven cases in which fetuses were normal or carrier. …”
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GENE POLYMORPHISIM OF TRANSFORMING GROWTH FACTOR Beta 1(TGF-β1) IN AUTISM SPECTRUM DISORDER ASD IN BASRAH by Khulood, Abdulrazaq Kaleel, Wijdan, Nazar Ibraheim

“…TGF&beta;-1 levels wasmeasured by ELISA and TGF-&beta;1(Codon 10 +869 C/T) and TGF-&beta;1(Codon 25:+915*G/C)Gene Polymorphism were detected by specific sets of primers.The meanvalue of TGF-&beta;1 was significantly low in the autistic group (95.91pg / mm) ascompare with the control one (117.08 pg / mm) TGF-&beta;1(Codon 10: +869*T/C) genepolymorphism showed heterogeneous results between autistic group and controlgroup…”
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