Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. by Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick

“…We report nine individuals from five families with severe aniridia and/or microphthalmia (with no detectable PAX6 mutation) with ultrarare monoallelic missense variants altering the Arg51 codon of MAB21L1. …”
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Mutation rates of TGFBR2 and ACVR2 coding microsatellites in human cells with defective DNA mismatch repair. by Heekyung Chung, Dennis J Young, Claudia G Lopez, Thuy-Anh T Le, Jeffrey K Lee, Deena Ream-Robinson, Sherry C Huang, John M Carethers

“…Plasmids were constructed in which exon 3 of TGFBR2 and exon 10 of ACVR2 were cloned +1 bp out of frame, immediately after the translation initiation codon of an enhanced GFP (EGFP) gene, allowing a -1 bp frameshift mutation to drive EGFP expression. …”
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Complete coding region sequence analyses and antigenic characterization of emerging lineage G-IX of foot- and-mouth disease virus serotype Asia1 by Manoranjan Rout, Shyam Singh Dahiya, Saravanan Subramaniam, Ramakant Acharya, Reshama Samanta, Jitendra Kumar Biswal, Jajati Keshari Mohapatra, Rabindra Prasad Singh

“…One isolate of G-VIII collected during 2023 revealed a codon insertion in the G-H loop of VP1. The vaccine matching studies support the suitability of the currently used Indian vaccine strain IND63/1972 to contain outbreaks due to viruses belonging to G-IX.…”
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The ribosome-associated quality control pathway supports survival in the absence of non-stop ribosome rescue factors by Katrina Callan, Cassidy R. Prince, Heather A. Feaga

“…ABSTRACT In bacteria, if a ribosome translates an mRNA lacking a stop codon it becomes stalled at the 3′ end of the message. …”
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A case of CDKL5 deficiency disorder with a novel intragenic multi-exonic duplication by Takato Akiba, Shino Shimada, Katsumi Imai, Satoru Takahashi

“…This duplication was assumed to result in a shift of the reading frame and the introduction of a premature stop codon. This case highlights the importance of careful phenotyping and comprehensive genetic testing to detect rare structural variants in CDD patients.…”
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The effect of Point Mutations in Dihydrofolate reductase genes and Multidrug resistance gene 1-86 on treatment of falciparum malaria in Sudan by Rahma Udu Yusuf, Sabah Ahmed Omar, Raphael Muchangi Ngure

“…Overall, the prevalence of the dhfr point mutation, codon 51, 59 and 108: 82.5% (132/160) carried mutations at dhfr (N51I, C59R or S108N), but triple mutants were rare (3.1%) in the AS + SP arm. …”
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In Vivo Evaluation of the Combined Anticancer Effects of Cisplatin and SAHA in Nonsmall Cell Lung Carcinoma Using [18F]FAHA and [18F]FDG PET/CT Imaging by Skye Hsin-Hsien Yeh, Ming Hsien Lin, I. I. Leo Garcia Flores, Uday Mukhopadhyay, Danial Young, Kazuma Ogawa, Jeong-Hwan Jeong, William Tong, Juri G. Gelovani, Nobuyoshi Fukumitsu

“…The ability of well-tolerated doses of HDACIs that act as chemosensitizers for platinum-based chemotherapeutics has recently been proven in many types and stages of cancer in vitro and in vivo. Detection of changes in HDAC activity/expression may provide important prognostic and predictive information and influence treatment decision-making. …”
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Exploring MAPK and mTOR Pathways in Feline Thyroid Tumors by Alexandra Monteiro, Tiago Bordeira Gaspar, Inês Borges, Sule Canberk, Mafalda Pinto, Isabel Pires, Paula Soares, Catarina Tavares

“…Sanger sequencing targeting human homologous hotspots revealed no mutations in <i>BRAF</i> (human codon 600) or <i>RAS</i> (human codon 61) regions. …”
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Function of a novel human gene TOX promoting cell proliferation by DENG Weiwei, LI Jing, GAO Peng, HAO Dongxia, ZHANG Lu, SHI Taiping, WANG Ying

“…Bioinformatics analysis was used to identify structural characteristics of TOX, and RT-PCR (reverse transcription PCR) was used to detect its expression in cell lines. Fluorescence microscopy was used to analyze subcellular localization of TOX, moreover, cell growth curve assay and flow cytometry experiment were used to study its effect on cell proliferation and cell cycle.The results showed that the full length human gene TOX was 4 131 bp long with an in-frame stop codon upstream of the putative ATG start codon and a 3 -poly (A) tail, and the open reading frame (ORF) encoded 526 amino acids with a predicted molecular mass of 57 ku. …”
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Whole exome sequencing shows novel COL4A3 and COL4A4 variants as causes of Alport syndrome in Rio Grande do Norte, Brazil by Washington Candeia de Araújo, Raul Maia Falcão, Raquel Araujo Costa Uchoa, Carlos Alexandre Garcia, Arthur Quintiliano Bezerra da Silva, Kesia Larissa Medeiros Quirino, Francisco Paulo Freire-Neto, Genilson Pereira Gurgel, Paulo Ricardo Porfirio Nascimento, Leonardo Capistrano Ferreira, Priya Duggal, Jorge Estefano S. de Souza, Selma M. B. Jeronimo

“…Results Two novel deleterious variants in COL4A3 and COL4A4 loci on chromosome 2 were identified. The variants were detected in the probands with mutant alleles in the homozygous state, a premature stop codon at position 481 of COL4A3 protein and a frameshift mutation leading to a stop codon at position 786 of COL4A4 protein. …”
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A Synthetic Facultative CAM‐Like Shuttle in C3 Rice Plants by Suting Wu, Kaining Jin, Haoshu Li, Guoxin Chen, Liying Zhang, Jinwen Yang, Shanshan Zhai, Yanni Li, Xuehui Sun, Xuean Cui, Jing Sun, Tiegang Lu, Zhiguo Zhang

“…The CBP plants are correctly assembled by detection at the gene level, transcription level, protein level, and enzyme activity. …”
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Thyroid hormone resistance: a novel mutation in thyroid hormone receptor beta (THRB) gene - case report by Emregül Işık, Paolo Beck Peccoz, Irene Campi, Alev Özön, Ayfer Alikaşifoğlu, Nazlı Gönç, Nurgün Kandemir

“…A heterozygous mutation at codon 350 located in exon 9 of the THRB gene was detected in all the affected members of the family. …”
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Most human proteins made in both nucleus and cytoplasm turn over within minutes. by Sabyasachi Baboo, Bhaskar Bhushan, Haibo Jiang, Chris R M Grovenor, Philippe Pierre, Benjamin G Davis, Peter R Cook

“…As nascent RNA bearing a premature termination codon (detected by fluorescence in situ hybridization) is also eliminated by a mechanism sensitive to a translational inhibitor, the nuclear turnover of peptides is probably a by-product of proof-reading the RNA for stop codons (a process known as nonsense-mediated decay). …”
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Clinicopathological Characteristics of Colorectal Cancer Patients with Different Mismatch Repair Statuses and Their Correlation with KRAS/NRAS/BRAF Gene Mutations by Jinchuan YU, Xuexue XIAO, Weiying HE, Yanan YANG, Junqiu YUE

“…MLH1-PMS2 codeletion, BRAF mutation, and KRAS G13 codon mutation were common in patients in both the classical and the nonclassical dMMR groups (both P<0.05). …”
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Duplicated paralogous genes subject to positive selection in the genome of Trypanosoma brucei. by Richard D Emes, Ziheng Yang

“…This is the first attempt to investigate adaptive evolution in this species at the codon level. We identify 109 genes within 23 clusters of paralogous gene expansions to be subject to positive selection.…”
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Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature by Nayan Patel Sureja, Liza Rajasekhar

“…On next-generation sequencing, a heterozygous missense mutation in exon 4 of the NLRP1 gene (chr17:G.5461839C>T) was detected, which results in the amino acid substitution of glutamine for arginine at codon 726 (c.2177G>A; p.Arg726Gln). …”
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Case report: Deciphering the clinical significance of a novel partial BRCA1 exon 10 duplication in a patient with triple-negative breast cancer by Alice Faversani, Debora Manuelli, Davide Barteselli, Giulia Melloni, Carlo Santaniello, Luigi Corsaro, Luigi Corsaro, Davide Sacco, Davide Sacco, Davide Clerici, Laura Gargiulo, Fulvio Ferrara, Lucy Costantino

“…Other investigations, such as the detection of breakpoints by RNA analysis, are often essential to classify the identified alteration. …”
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Transmission cluster of cefiderocol-non-susceptible carbapenem-resistant Acinetobacter baumannii in cefiderocol-naïve individuals by Claudia Alteri, Antonio Teri, Maria Francesca Liporace, Antonio Muscatello, Leonardo Terranova, Margherita Carnevale Schianca, Federica Salari, Beatrice Silvia Orena, Flaminia Gentiloni Silverj, Mara Bernazzani, Simona Biscarini, Giulia Renisi, Lisa Cariani, Caterina Matinato, Ciro Canetta, Alessandra Bandera, Annapaola Callegaro

“…Here, we report a transmission cluster of FDC-non-susceptible CRAB in four patients, all naïve to FDC treatment, characterized by a premature stop codon and amino acid deletion in the PirA protein. …”
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Quinolone resistance in Riemerella anatipestifer from Thai ducks: Mutation analysis of gyrA, parC, and plasmid-mediated quinolone resistance genes by Chutima Pathomchai-Umporn, Sudtisa Laopiem, Kriangkrai Witoonsatian, Sittinee Kulprasetsri, Pun Panomwan, Thaweesak Songserm, Nuananong Sinwat

“…Resistance appears primarily associated with a single mutation at codon 83 of gyrA, while no parC mutations or PMQR genes were detected. …”
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Loss of Ufsp1 does not cause major changes at the neuromuscular junction. by Cristofer Calvo, Coalesco Smith, Taejeong Song, Fabian Montecino-Morales, Sakthivel Sadayappan, Douglas P Millay, Minchul Kim

“…However, recent findings revealed that Ufsp1 is translated from a non-canonical start codon in humans, yielding a catalytically active enzyme. …”
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