Multi-Organ Damage in Human Dipeptidyl Peptidase 4 Transgenic Mice Infected with Middle East Respiratory Syndrome-Coronavirus. by Guangyu Zhao, Yuting Jiang, Hongjie Qiu, Tongtong Gao, Yang Zeng, Yan Guo, Hong Yu, Junfeng Li, Zhihua Kou, Lanying Du, Wenjie Tan, Shibo Jiang, Shihui Sun, Yusen Zhou

“…In this study, we developed a transgenic mouse model globally expressing codon-optimized human dipeptidyl peptidase 4 (hDPP4), the receptor for MERS-CoV. …”
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Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene by Nezir Özgün, Hasan Taşlıdere

“…Eleven of the patients were female. c.1064+1G > A splice-site change, p.Arg338X (c.1012 C > T) stop codon, p.Gly190Ser (c.568_569delinsTC) missense mutations were detected. …”
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Development and validation of a recombinant Rap1-based lateral flow immunoassay for rapid serodiagnosis of bovine babesiosis in Kazakhstan by Kanatbek Mukantayev, Zhansaya Adish, Darkhan Kanayev, Laura Tokhtarova, Bisultan Abirbekov, Yergali Abduraimov, Aralbek Rsaliyev, Kanat Tursunov

“…Materials and Methods: A C-terminal fragment (amino acids 345–480) of the B. bovis Rap1 gene was codon optimized and expressed in Escherichia coli. …”
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The pre- and post-COVID-19 pandemic dengue fever patterns in southeastern coastal China in 2019 and 2024: molecular evolution and strain replacement by Tianran Zhang, Yaqi Shi, Leyi Zhang, Jian Wang, Chengchao Yu, Binbin Lv, Sisi Wu, Yiru Huang, Xuewei Liu, Hupiao Dai, Mingshi Zhou, Yanjuan Liao, Wei Wang, Guankai Lin

“…Recombination was analyzed using seven detection algorithms implemented in RDP4. Hamming distances were used to profile amino acid substitutions. …”
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Expression characteristics and transcriptional regulation analysis of VlCKX5 gene in grape by LIU Yiting, WANG Ruxin, ZHANG Haimeng, JING Pengwei, SHI Qiaofang, ZHAO Xiaochun, YU Yihe

“…Subsequently, the VlAGL6a gene was cloned into the pGADT7 vector to create the recombinant prey plasmid pGADT7-VlAGL6a, which was transfected into a yeast strain positive for the bait genome to perform yeast one-hybrid (Y1H) interaction detection. A 1566 base pair segment of the VlCKX5 promoter, located in upstream of the ATG start codon, was cloned into the pGreenII0800-LUC vector to create a reporter construct. …”
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Fluorescent reporter plasmids for single-cell and bulk-level composition assays in E. faecalis. by Kelsey M Hallinen, Keanu A Guardiola-Flores, Kevin B Wood

“…Finally, we incorporated codon-optimized variants of blue (BFP) and red (RFP) reporters and show that they lead to increased fluorescence in exponentially growing cells. …”
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Association of Glutathione–S-Transferase (GSTP1) Genetic Polymorphism in Iraqi Patients with Diabetes Mellitus Type2 by Baghdad Science Journal

“…Polymorphisms of GSTP1 at codon 105 amino acids forms GSTP1 important site for bind of hydrophobic electrophiles and the substitution of Ile/Val affect substrate specially catalytic activity of the enzyme and may correlate with reach to different diseases in human like diabetes mellitus type2 disease. …”
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Determination of the loss of function complement C4 exon 29 CT insertion using a novel paralog-specific assay in healthy UK and Spanish populations. by Lora Boteva, IMAGEN, Yee Ling Wu, Josefina Cortes-Hernández, Javier Martin, Timothy J Vyse, Michelle M A Fernando

“…We have developed a novel, high-throughput, paralog-specific assay to detect the presence and copy number of this polymorphism. …”
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A novel parC mutation potentiating fluoroquinolone resistance in Klebsiella pneumoniae and Escherichia coli clinical isolates by Marwa Atef Yakout, Ghada Hani Ali

“…In addition to a substitution mutation at codon 157 of leucine to tyrosin. To the best of our knowledge this mutation was not previously reported. qnrB was the most detected gene, as 64.7% Klebsiella pneumoniae and 57.1% Escherichia coli were positive. qnrA gene was detected in 11% Klebsiella pneumoniae and 4% of Escherichia coli isolates tested. …”
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Unraveling Burden of Isocitrate Dehydrogenase Mutations in AcuteMyeloid Leukemia; Clinico-Hematological Correlation and PrognosticRelevance by Syeda Hina Abbas, Ikram din Ujjan, Jawad Hassan, Nida Anwar

“…Results: IDH1 mutation was detected in 3 out of 73 (4.1 %) cases at codon 132, while IDH2 mutation was not detected in any of the 73 cases. …”
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Canadian 2021 H-type Bovine Spongiform Encephalopathy case associated with a novel E211K polymorphism in prion protein gene by Waqas Tahir, Sandor Dudas, Renee Anderson, Jianmin Yang, Sarah Bogart, Kristina Santiago-Mateo, Yuanmu Fang, Roberta Quaghebeur

“…Importantly, a non-synonymous mutation at codon 211 of the PRNP gene was detected and confirmed to be present as a germline mutation. …”
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Mutation of the ALDH7A1 gene in a patient with pyridoxal phosphate-dependent neonatal epileptic encephalopathy: a clinical case by T. V. Kozhanova, S. S. Zhilina, T. I. Mescheryakova, E. G. Lukyanova, K. V. Osipova, S. O. Ayvazyan, A. G. Prityko

“…This mutation led to the appearance of a stop codon in position 82 of the protein p.Arg82Ter and the amino acid substitution in position 399 of the protein p.Glu399Gln. …”
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Genetic Determinants of Rifampicin Resistance of Mycobacterium tuberculosis not Included in the Russian Molecular Genetic Test Systems by E. A. Mazurina, T. V. Umpeleva, L. A. Golubeva, L. S. Lavrenchuk, D. V. Vakhrusheva, I. A. Vasilyeva

“…The most common variant was the insertion of three nucleotides (TTC) encoding the amino acid phenylalanine at position 434 of the codon (1296-1300insTTC).…”
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Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndrome by Suzanne E. de Bruijn, L. Ingeborgh van den Born, Ronny Derks, Lonneke Haer-Wigman, Luke O’Gorman, Frans P. M. Cremers, Ronald van Beek, Alexander Hoischen, Susanne Roosing, Kornelia Neveling

“…To investigate the consequences of the insertion, targeted long-read RNA-sequencing was performed, revealing a complex splice defect causing the introduction of a premature stop codon. This finding suggests that mobile element insertions represent a yet underestimated variant type that is difficult to detect using short-read sequencing.…”
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Serological and genetic analysis of a novel 27delC variant in A subgroup: a case report by ZHANG Yingjun, ZHU Yuli, FENG Zhihui, YU Shuhong

“…Analysis and prediction suggested that the mutation might affect the function of the transferase through mechanisms such as shifting the initiation codon, altering the reading frame and affecting the splice sites. …”
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Comprehensive analysis of complete chloroplast genome sequence of Morina L. by Peng-Hui Liu, Qing Yuan, Huan Liu, Le-Le Qin, Yao Wei, Xu-Min Li, Fei Ren, Xiao-Lei Ma, Hai-Rui Liu

“…Together with other two species of Morina which have been sequenced, the chloroplast genome structure of Morina was compared. Analysis of codon usage preference, analysis of the contraction and expansion of IR region, and comparison of the whole sequence were done. …”
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Efficient Incorporation of DOPA into Proteins Free from Competition with Endogenous Translation Termination Machinery by Youhui Yang, Yingchen Wang, Zhaoguan Wang, Hao Qi

“…However, the most common approach to incorporating ncAAs into proteins relies on stop codon suppression, which is often limited by the competition of endogenous translational termination machinery. …”
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A CASE REPORT OF A RARE NONSENSE ZP1 VARIANT IN A PATIENT WITH OOCYTE MATURATION DEFECT by Ezgi Gizem Berkay, Birsen Karaman, Zehra Oya Uyguner, Seher Başaran

“…Zona pellucida is an essential glycoprotein that surrounds oocytes and contains four types of receptor proteins (ZP1-4). The detected mutation in the ZP1 gene leads to the premature stop codon, causing truncation of the ZP1 receptor protein. …”
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Impact of Vgsc-1014 mutations on the feeding pattern of Phlebotomus argentipes. by Bruno Gomes, Debashis Ghosh, Rajib Chowdhury, M Mamun Huda, Abdul Alim, Mark Paine, Dinesh Mondal, David Weetman

“…In the primary Asian visceral leishmaniasis vector, Phlebotomus argentipes, two kdr alleles in codon 1014 of the Vgsc are associated with insecticide resistance, potentially presenting challenges to vector control efforts in the Indian subcontinent. …”
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Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature by Serkan Bilge Koca

“…CASR gene sequencing showed a novel homozygous mutation in exon 4 (c.1057G > A), which had generated a substitution of the amino acid glutamate to lysine at codon 353 (p.Glu353Lys). This mutation was homozygous in the children and heterozygous in the parents. …”
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