Identification of a novel fusion Iduronidase with improved activity in the cardiovascular system by Sarah Kim, Michael J. Przybilla, Chester B. Whitley, Li Ou, Mahmoud Al-Kofahi, Jeanine R. Jarnes

“…Methods: MPS I mice were hydrodynamically injected through the tail vein with plasmids containing either a codon-optimized cDNA encoding the wild-type IDUA protein or one of four modified IDUAs under the control of the liver-specific human α1-antitrypsin (hAAT) promoter. …”
Get full text

Polymorphism of Drug Resistance Genes <i>dhfr</i> and <i>dhps</i> in <i>Plasmodium falciparum</i> Isolates among Chinese Migrant Workers Who Returned from Ghana in 2013 by Hong Quan, Peng Yu, Kokouvi Kassegne, Hai-Mo Shen, Shen-Bo Chen, Jun-Hu Chen

“…All 146 isolates had mutations in at least one codon, either within <i>dhfr</i> or <i>dhps</i>. …”
Get full text

A novel homozygous variant of TMEM260 induced cardiac malformation and neurodevelopmental abnormality: case report and literature review by Mou Peng, Siyuan Jing, Sichen Duan, Sichen Duan, Guoyan Lu, Kaiyu Zhou, Yimin Hua, Tao Wang, Peng Yue, Yifei Li

“…This mutation led to the deletion of a TCTC sequence from positions 1336 to 1339 in the TMEM260 gene, changing leucine to valine at amino acid 447 and introducing a stop codon after the ninth amino acid. This structural deletion in the TMEM260 protein resulted in the loss of gene function.ConclusionThis case report presents a newly discovered variant site in the TMEM260 gene and reinforces the relationship between TMEM260 molecular function and differentiation of mesoderm and ectoderm. …”
Get full text

Identification of tRNA-derived small RNAs and their potential roles in porcine skeletal muscle with intrauterine growth restriction by Mailin Gan, Mailin Gan, Jianfeng Ma, Jianfeng Ma, Lei Chen, Lei Chen, Shunhua Zhang, Shunhua Zhang, Lili Niu, Lili Niu, Ye Zhao, Ye Zhao, Xuewei Li, Xuewei Li, Hongmei Pan, Li Zhu, Li Zhu, Linyuan Shen, Linyuan Shen

“…The tsRNAs formed by splicing before the 5′ end anti codon of mature tRNA (tRF-5c) accounted for over 90% of tsRNAs, which were significantly enriched in IUGR pigs than in normal-size pigs. …”
Get full text

The complete mitochondrial genome of the Indian leafwing butterfly Kallima paralekta (insecta: Lepidoptera: Nymphalidae) by Cassidy P. Aguila, Ryan M. Aikens, Parneet K. Ateliey, Hannah M. Buhr, Michael G. Castro, Rayeil J. Chua, Nishtha Dayal, Heather N. Deane, Brendan Dennehy, Meerim Esenbekova, Jessica L. Fay, Carly Gair, Brady R. Gordon, Soomin Huh, Fariba Ishrar, Elizabeth B. Jonson, Charanpreet F. Kaur, Clémence Kokolo, Katrina Lanyon, David Laudato, Tri Q. Le, McKay Lowry, Imane Marrakchi, Ruth Marte, Connor S. McIntyre, Jaime C. McNicholl, Gabrielle B. Nowlin, Claudia Pfeifer, Luc J. Posillipo, Shamsa Ricci, Sean M. Robertson, Jillian Roziere, Prerna Sharma, Danilo Shevkoplyas, Holly J. Stokes, Rebecca E. Twilley, Chenyi Wang, Jennifer K. Watt, Arizona G. Wilkinson, Jenelle M. Williams, Michael D. Wood, Heeeun Yang, Jeffrey M. Marcus

“…Kallima paralekta COX1 features an atypical CGA start codon, while ATP6, COX1, COX2, ND4, ND4L, and ND5 exhibit incomplete stop codons completed by 3’ A residues added to the mRNA. …”
Get full text

Genetic Diversity of Carbapenem-Resistant Enterobacteriaceae (CRE) Clinical Isolates From a Tertiary Hospital in Eastern China by Minhui Miao, Minhui Miao, Huiyan Wen, Ping Xu, Siqiang Niu, Jingnan Lv, Xiaofang Xie, José R. Mediavilla, Yi-Wei Tang, Barry N. Kreiswirth, Xia Zhang, Haifang Zhang, Hong Du, Liang Chen

“…Several insertions or stop codon mutations were found within porin genes of K. pneumoniae, E. coli and S. marcescens isolates, both with and without carbapenemases. …”
Get full text

Multidimensional features of sporadic Creutzfeldt-Jakob disease in the elderly: a case report and systematic review by Jiangfeng Liao, Jiangfeng Liao, Wenming Hu, Wenming Hu, Shiheng Chen, Chunyu Huang, Chunyu Huang, Senwei Dong, Senwei Dong, Wanjin Chen, Wanjin Chen, Xiaochun Chen, Longfei Chen, Longfei Chen

“…The polymorphic PRNP analysis at codon 129 was M/M (90.9%), with MM1 and MM2C as the primary molecular phenotypes. …”
Get full text

Prevalence of Carbendazin Resistance in Field Populations of the Rice False Smut Pathogen <i>Ustilaginoidea virens</i> from Jiangsu, China, Molecular Mechanisms, and Fitness Stabil... by Jiehui Song, Zhiying Wang, Yan Wang, Sijie Zhang, Tengyu Lei, You Liang, Qigen Dai, Zhongyang Huo, Ke Xu, Shuning Chen

“…Variations including point mutations, non-sense mutations, codon mutations, and frameshift mutations were found in the <i>Uvβ1Tub</i> gene from the 14 carbendazim-resistant isolates, which have not been reported in other fungi before. …”
Get full text

First description of antimicrobial resistance in carbapenem-susceptible Klebsiella pneumoniae after imipenem treatment, driven by outer membrane remodeling by Xuebin Tian, Qiongdan Wang, Laura Perlaza-Jiménez, Xiangkuo Zheng, Yajie Zhao, Vijay Dhanasekaran, Renchi Fang, Jiahui Li, Chong Wang, Haiyang Liu, Trevor Lithgow, Jianming Cao, Tieli Zhou

“…Sodium dodecyl sulfate polyacrylamide gel electrophoresis (SDS-PAGE) results showed that isolate FK-2820 lacked OmpK36, with genome sequence data validating that there was a premature stop codon in the ompK36 gene and real-time RT-PCR suggesting high turnover of the ompK36 non-sense transcript in FK-2820, with the steady-state mRNA level 0.007 relative to the initial isolate. …”
Get full text

KRAS mutations and endometriosis burden of disease by Natasha L Orr, Arianne Albert, Yang Doris Liu, Amy Lum, JooYoon Hong, Catalina L Ionescu, Janine Senz, Tayyebeh M Nazeran, Anna F Lee, Heather Noga, Kate Lawrenson, Catherine Allaire, Christina Williams, Mohamed A Bedaiwy, Michael S Anglesio, Paul J Yong

“…Somatic activating KRAS codon 12 mutations were detected in endometriosis lesions using droplet digital PCR. …”
Get full text

Autosomal recessive variants c.953A>C and c.97-1G>C in NSUN2 causing intellectual disability: a molecular dynamics simulation study of loss-of-function mechanisms by Nazif Muhammad, Syeda Iqra Hussain, Zia Ur Rehman, Sher Alam Khan, Samin Jan, Niamatullah Khan, Muhammad Muzammal, Sumra Wajid Abbasi, Naseebullah Kakar, Naseebullah Kakar, Zia Ur Rehman, Muzammil Ahmad Khan, Muhammad Usman Mirza, Noor Muhammad, Saadullah Khan, Naveed Wasif, Naveed Wasif

“…The identified splice variant (c.97-1G&gt;C) was predicted to result in the skipping of exon-2, which would lead to a frameshift followed by a premature stop codon (p. His86Profs*16). Furthermore, it could result in the termination of translation and synthesis of dysfunctional protein, most likely leading to nonsense-mediated decay. …”
Get full text

A novel germline mutation of the <i>PALB2</i> gene in a young Yakut breast cancer woman by P. A. Gervas, A. Yu. Molokov, A. A. Zarubin, A. A. Ivanova, D. G. Tikhonov, N. S. Kipriyanova, A. N. Egorov, L. D. Zhuikova, N. A. Shefer, E. B. Topolnitskiy, V. A. Belyavskaya, L. F. Pisareva, E. L. Choynzonov, N. V. Cherdyntseva

“…In accordance with dbPubMed ClinVar, new mutation is located in codon of the PALB2 gene, where the likely pathogenic donor splice site mutation (NM_024675.3:c.48+1delG) associated with hereditary cancer-predisposing syndrome has been earlier described. …”
Get full text

First Description of the Mitogenome and Phylogeny of Culicinae Species from the Amazon Region by Bruna Laís Sena do Nascimento, Fábio Silva da Silva, Joaquim Pinto Nunes-Neto, Daniele Barbosa de Almeida Medeiros, Ana Cecília Ribeiro Cruz, Sandro Patroca da Silva, Lucas Henrique da Silva e Silva, Hamilton Antônio de Oliveira Monteiro, Daniel Damous Dias, Durval Bertram Rodrigues Vieira, José Wilson Rosa, Roberto Carlos Feitosa Brandão, Jannifer Oliveira Chiang, Livia Carício Martins, Pedro Fernando da Costa Vasconcelos

“…The most common start codons were ATT/ATG, and TAA was the stop codon for all PCGs. …”
Get full text

Immunoinformatics for Novel Multi-Epitope Vaccine Development in Canine Parvovirus Infections by Bashudeb Paul, Jahangir Alam, Mridha Md. Kamal Hossain, Syeda Farjana Hoque, Md. Nazmul Islam Bappy, Hafsa Akter, Nadim Ahmed, Margia Akter, Mohammad Ali Zinnah, Shobhan Das, Md. Mukthar Mia, Md. Shafiullah Parvej, Sonjoy Sarkar, Hiren Ghosh, Mahmudul Hasan, Hossam M. Ashour, Md. Masudur Rahman

“…The selected epitopes were linked with <i>Salmonella enterica</i> flagellin FliC adjuvants, along with the PADRE sequence, by GGS linkers to construct a vaccine candidate with 272 nucleotides. The codon adaptation and in silico cloning showed that the generated vaccine can be expressed by the <i>E. coli</i> strain, K12, and the sequence of the vaccine construct showed no similarities with dog protein. …”
Get full text

One-Enzyme RTX-PCR for the Detection of RNA Viruses from Multiple Virus Genera and Crop Plants by Hana Hoffmeisterová, Kateřina Kratochvílová, Noemi Čeřovská, Lucie Slavíková, Jakub Dušek, Karel Muller, Jan Fousek, Helena Plchová, Oldřich Navrátil, Jiban Kumar Kundu, Tomáš Moravec

“…The expression plasmid pET_RTX_(exo-) was transferred to various <i>E. coli</i> genotypes that either compensated for codon bias (Rosetta-gami 2) or contained additional chaperones to promote solubility (BL21 (DE3) with plasmids pKJE8 or pTf2). …”
Get full text

Computational design and characterization of a multiepitope vaccine against carbapenemase-producing Klebsiella pneumoniae strains, derived from antigens identified through reverse... by Nicola Cuscino, Ayesha Fatima, Vincenzo Di Pilato, Matteo Bulati, Caterina Alfano, Elisa Monaca, Giuseppina Di Mento, Daniele Di Carlo, Francesca Cardinale, Francesco Monaco, Gian Maria Rossolini, Asif M. Khan, Pier Giulio Conaldi, Bruno Douradinha

“…Molecular docking binding energies to TLR-2 and TLR-4, two important innate immunity receptors involved in the immune response against K. pneumoniae infections, and molecular dynamics simulations of such complexes supported active interactions. A codon optimized multiepitope sequence cloning strategy is proposed, for production of recombinant vaccine in classical bacterial vectors. …”
Get full text

Evolutionary analyses of polymeric immunoglobulin receptor (pIgR) in the mammals reveals an outstanding mutation rate in the lagomorphs by Fabiana Neves, Fabiana Neves, Patrícia de Sousa-Pereira, Patrícia de Sousa-Pereira, Patrícia de Sousa-Pereira, José Melo-Ferreira, José Melo-Ferreira, José Melo-Ferreira, Pedro J. Esteves, Pedro J. Esteves, Pedro J. Esteves, Pedro J. Esteves, Ana Pinheiro, Ana Pinheiro

“…The obtained mammalian phylogeny, as well as the Bayesian inference of evolutionary rates and genetic distances, show that Lagomorpha pIgR is evolving at a higher substitution rate. Codon-based analyses of positive selection show that mammalian pIgR is evolving under strong positive selection, with strong incidence in the domains excised from the rabbit short pIgR isoform. …”
Get full text

Mus musculus papillomavirus 1 E8^E2 represses expression of late protein E4 in basal-like keratinocytes via NCoR/SMRT-HDAC3 co-repressor complexes to enable wart formation in vivo by Franziska Kuehner, Margaret Wong, Elke Straub, John Doorbar, Thomas Iftner, Richard B. S. Roden, Frank Stubenrauch

“…While inactivation of the Mus musculus PV1 (MmuPV1) E8 start codon (E8-) increases viral gene expression, surprisingly, it prevents wart formation in FoxN1nu/nu mice. …”
Get full text

Phenotypic and Genotypic Appraisal of Pulmonary Mucinous Adenocarcinoma: A Retrospective Study by VG Deepak Roshan, Ashwini Ramji, M Saravanan, Vipin Gopinath, Sangeetha K Nayanar

“…EGFR mutation analysis for exons 18, 19, 20, 21 were done using ARMS PCR and KRAS mutation analysis for codons 12, 13, 61, 146 by Sanger sequencer. Descriptive statistics was used wherever applicable. …”
Get full text

MPZL2—a common autosomal recessive deafness gene related to moderate sensorineural hearing loss in the Chinese population by Lang Zhang, Jin-Yuan Yang, Qiu-Quan Wang, Xue Gao, Guo-Jian Wang, Ming-Yu Han, Dong-Yang Kang, Dong-Yi Han, Sha-Sha Huang, Yong-Yi Yuan

“…A novel MPZL2 variant at the start codon was identified, enriching the variant spectrum of MPZL2. …”
Get full text