Phylogenetic analysis of SARS-CoV-2 viruses circulating in the South American region: Genetic relations and vaccine strain match by Paula Perbolianachis, Diego Ferla, Rodrigo Arce, Irene Ferreiro, Alicia Costábile, Mercedes Paz, Diego Simón, Pilar Moreno, Juan Cristina

“…Significant differences in codon usage among spike genes of SARS-CoV-2 strains circulating in South America was found, which can be linked to SARS-CoV-2 genotypes.…”
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Rapid detection of multidrug resistance in tuberculosis using nanopore-based targeted next-generation sequencing: a multicenter, double-blind study by Aimei Liu, Sang Liu, Kangyan Lv, Qingdong Zhu, Jun Wen, Jianpeng Li, Chengyuan Liang, Xuegang Huang, Chunming Gong, Qingfeng Sun, Hongcang Gu

“…The most common mutations were S531L (codon in E. coli) in the rpoB gene, S315T in the katG gene, and M306V in the embB gene, conferring resistance to rifampicin, isoniazid, and ethambutol, respectively. …”
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Antiviral activity of mink interferon alpha expressed in the yeast Pichia pastoris by Hailing Zhang, Hailing Zhang, Dongliang Zhang, Han Lu, Deying Zou, Bo Hu, Shizhen Lian, Shiying Lu

“…Herein, the gene encoding a mature mink interferon alpha (MiIFN-α) was synthesized according to the P. pastoris preference of codon usage and a recombinant plasmid, pPICZαA-MiIFN-α, was constructed. pPICZαA-MiIFN-α was linearized and transformed into the P. pastoris X33 strain, and zeocin-resistant transformants were selected. …”
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Two Novel Variants in <i>YARS2</i> Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency by Lidia Carreño-Gago, Diana Luz Juárez-Flores, Josep Maria Grau, Javier Ramón, Ester Lozano, Ferran Vila-Julià, Ramon Martí, Glòria Garrabou, Elena Garcia-Arumí

“…(Gly105Alafs*4)), which creates a premature stop codon in the amino acid 109, and a single nucleotide change in exon 5 c.1391T>C (p.…”
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Molecular genetic characteristics of the carbapenem resistant <i>Klebsiella pneumoniae KP254</i> strain as a representative of the highly virulent strain evolutionary branch by A. E. Alekseeva, N. F. Brusnigina, N. A. Gordinskaya

“…The analysis of the ompK35 and ompK36 porin gene translated sequences revealed mutational changes which resulted in emerged stop codon within the ompK35 gene, whereas OmpK36 amino acid sequence contains a large number of substitutions, insertions, and deletions. …”
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KANKER PAYUDARA FAMILIAL: PENELUSURAN GENA PREDISPOSISI TERWARIS DAN PERHITUNGAN RISIKO by , Samuel Johny Haryono, dr.,Sp.B(K)Onk., , Prof. dr. Sofia Mubarika Haryana, M. Med. Sc., Ph.D.

“…Other mutation of p.Met1652Ile and p.Ile3412Val were considered as candidate gene and were identified mostly at BRCA2 exon 11 and 27. SNPs p53 codon 72 were found with the genotype GC 56%, CG 20%, CC 95% and the polymorphism of the gen MDM2 the SNPs with the genotype TG 64% and TT 36%. …”

Emergence of the Asian lineage dengue virus type 3 genotype III in Malaysia by Tan, Kim Kee, Zulkifle, Nurul Izzani, Sulaiman, Syuhaida, Pang, Sui Ping, Nor Amdan, Nur Asyura, Mat Rahim, Nor Aziyah, Abd Jamil, Juraina, Shu, Meng Hooi, Mahadi, Nor Muhammad, AbuBakar, Sazaly

“…Amino acid variation sites in NS5 (NS5-553I/M, NS5-629 T, and NS5-820E) differentiated the DENV3/III-C from other DENV3 viruses. The codon 629 of NS5 was identified as a positively selected site. …”

Catalytic Properties of Caseinolytic Protease Subunit of Plasmodium knowlesi and Its Inhibition by a Member of δ-Lactone, Hyptolide by Cahyo Budiman, Raimalynah Abd Razak, Angelesa Runin Unggit, Rafida Razali, Meiny Suzery, Ruzaidi Azli Mohd Mokhtar, Lee, Ping Chin, Didik Huswo Utomo

“…This study aims to characterize the catalytic properties of ClpP of Plasmodium knowlesi (Pk-ClpP) and the inhibition properties of a δ-lactone hyptolide against this protein. Accordingly, a codon-optimized synthetic gene encoding Pk-ClpP was expressed in Escherichia coli BL21(DE3) and purified under a single step of Ni2+-affinity chromatography, yielding a 2.20 mg from 1 L culture. …”
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Case series of homozygous and compound heterozygosity of Hb Malay, the diagnostic features and transfusion requirements by Amran, Hanizah Salwa, Sarijan, Nurimatussolehah, Sathar, Jameela, Md Noor, Sabariah

“…This Hb variant is caused by AAC à AGC mutation at codon 19 of the b globin gene resulting in the substitution of serine for asparagine [1]. …”
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Isolation, Screening and Molecular Cloning Studies of Xylanase Producing Bacillus Pumilus Strains by Hamzah, Ainon

“…The structural xylanase gene which started from an ATG initiation codon, consists of an open reading frame of 684 bp, which encoded 202 amino acid residues. …”
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Novel compound heterozygous variants (c.971delA/c.542C > T) in SLC1A4 causes spastic tetraplegia, thin corpus callosum, and progressive microcephaly: a case report and mutational a... by Feda E. Mohamed, Mohammad A. Ghattas, Mohammad A. Ghattas, Taleb M. Almansoori, Mohammed Tabouni, Ibrahim Baydoun, Praseetha Kizhakkedath, Anne John, Hiba Alblooshi, Qudsia Shaukat, Fatma Al-Jasmi, Fatma Al-Jasmi

“…The maternal c.971delA (p.N324Tfs*29) deletion variant disturbs the transcript reading frame leading to the generation of a premature stop codon and its subsequent degradation by nonsense-mediated mRNA decay as detected through expression analysis. …”
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Employing an immunoinformatics approach revealed potent multi-epitope based subunit vaccine for lymphocytic choriomeningitis virus by Muhammad Waqas, Shahkaar Aziz, Aiman Bushra, Sobia Ahsan Halim, Amjad Ali, Saeed Ullah, Asaad Khalid, Ashraf N. Abdalla, Ajmal Khan, Ahmed Al-Harrasi

“…Methods: The whole proteome of the virus was screened and mapped to extract immunodominant B-cell and T-cell epitopes which were fused with appropriate linkers (EAAAK, GGGS, AAY, GPGPG, and AAY), PADRE sequence (13aa) and an adjuvant (50 S ribosomal protein L7/L12) to formulate a multi-epitope vaccine ensemble. Codon adaptation and in silico cloning of the constructed vaccine were carried out using bioinformatics tools. …”
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PIGN-Related Disease in Two Lithuanian Families: A Report of Two Novel Pathogenic Variants, Molecular and Clinical Characterisation by Evelina Siavrienė, Živilė Maldžienė, Violeta Mikštienė, Gunda Petraitytė, Tautvydas Rančelis, Justas Dapkūnas, Birutė Burnytė, Eglė Benušienė, Aušra Sasnauskienė, Jurgita Grikinienė, Eglė Griškevičiūtė, Algirdas Utkus, Eglė Preikšaitienė

“…(Glu525AspfsTer68)) variants are predicted to result in a premature termination codon that leads to truncated and functionally disrupted protein causing the phenotype of MCAHS1 in the affected individuals. …”
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Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review by Emanuele Monda, Ettore Blasi, Antonio De Pasquale, Alessandro Di Vilio, Federica Amodio, Martina Caiazza, Gaetano Diana, Michele Lioncino, Alessia Perna, Federica Verrillo, Maria Luigia Martucci, Orlando Munciguerra, Andrea Vergara, Giuseppe Limongelli

“…The deletion of the arginine 14 codon (R14del) in the phospholamban (<i>PLN</i>) gene is a rare cause of arrhythmogenic cardiomyopathy (ACM) and is associated with prevalent ventricular arrhythmias, heart failure, and sudden cardiac death. …”
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Systemic mastocytosis with KIT V560G mutation presenting as recurrent episodes of vascular collapse: response to disodium cromoglycate and disease outcome by Iolanda Conde-Fernandes, Rita Sampaio, Filipa Moreno, José Palla-Garcia, Maria dos Anjos Teixeira, Inês Freitas, Esmeralda Neves, Maria Jara-Acevedo, Luis Escribano, Margarida Lima

“…Molecular genetic studies revealed the presence of the KIT V560G mutation in bone marrow MCs, but not in other bone marrow cells, whereas the screening for mutations in codon 816 of KIT was negative. The patient was treated with oral disodium cromoglycate and the disease had a favorable outcome after an eleven-year follow-up period, during which progressively lower serum tryptase levels together with the fully disappearance of all clinical manifestations was observed. …”
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Molecular bioinformatic and functional analysis of Enolase4 gene during siphonal autotomy and regeneration of razor clam Solen grandis by Zhidong Zhang, Xuefeng Sun, Xuefeng Sun, Aihua Chen, Jiaxin Yang, Suhua Chen, Yu Zhang, Yi Cao, Yuheng Peng, Yanqing Zhu, Yanqing Zhu, Yangping Wu

“…Bioinformatic analysis revealed a slightly lower codon usage bias and a relatively stable nucleotide composition in the SgENO4 sequence. …”
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Identification of Alternative Splicing Events Associated with Paratuberculosis in Dairy Cattle Using Multi-Tissue RNA Sequencing Data by Houcheng Li, Jinfeng Huang, Junnan Zhang, Yahui Gao, Bo Han, Dongxiao Sun

“…The DAS in <i>EXOC7</i> might produce a new protein sequence with lack of 23 amino acids, and the DAS in <i>KIF2C</i> induced a stop codon of premature occurrence and resulted in a lack of functional domain. …”
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Crystal Structure of an Archaeal Tyrosyl-tRNA Synthetase Bound to Photocaged L-Tyrosine and Its Potential Application to Time-Resolved X-ray Crystallography by Toshiaki Hosaka, Kazushige Katsura, Yoshiko Ishizuka-Katsura, Kazuharu Hanada, Kaori Ito, Yuri Tomabechi, Mio Inoue, Ryogo Akasaka, Chie Takemoto, Mikako Shirouzu

“…ΔA strain with the UAG codon reassigned to the nonnatural amino acid. Another crystallographic study of the caged protein showed that the site-specifically incorporated <i>o</i>NBTyr was degraded to tyrosine by light irradiation of the crystals. …”
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Branchpoints as potential targets of exon-skipping therapies for genetic disorders by Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, Atsuko Hagiwara, Ryo Kurosawa, Yukiya Sako, Megumu Ogawa, Masashi Ogasawara, Satoru Noguchi, Yuichi Goto, Ryosuke Takahashi, Ichizo Nishino, Masatoshi Hagiwara

“…Fukutin (FKTN) c.647+2084G>T creates a pseudo-exon with a premature stop codon, which causes Fukuyama congenital muscular dystrophy (FCMD). …”
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Molecular Pathological Characteristics of Thyroid Follicular-Patterned Tumors Showing Nodule-in-Nodule Appearance with Poorly Differentiated Component by Mayu Ueda, Katsuya Matsuda, Hirokazu Kurohama, Zhanna Mussazhanova, Yerkezhan Sailaubekova, Hisayoshi Kondo, Tomoki Shimizu, Nami Takada, Yuki Matsuoka, Chieko Otsubo, Shinya Sato, Hiroyuki Yamashita, Atsushi Kawakami, Masahiro Nakashima

“…We analyzed the profile of 53BP1 expression and <i>NRAS codon 61</i> and <i>TERT</i>-promoter (<i>TERT</i>-p) mutations in 16 cases of TFTs showing NN with PDc compared to 30 adenomatous goiters, 31 follicular adenomas, 15 minimally invasive follicular carcinomas (FCs), and 11 widely invasive FC cases. …”
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