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4221
The frequency of defective genomes in Omicron differs from that of the Alpha, Beta and Delta variants
Published 2022-12-01“…In March 2020 we performed a study in clinical samples, where we found that a portion of genomes in the SARS-CoV-2 viral population accumulated deletions immediately before the S1/S2 cleavage site (furin-like cleavage site, PRRAR/S) of the spike gene, generating a frameshift and appearance of a premature stop codon. The main aim of this study was to determine the frequency of defective deletions in prevalent variants from the first to sixth pandemic waves in our setting and discuss whether the differences observed might support epidemiological proposals. …”
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4222
Genomic Surveillance of SARS-CoV-2 in the Southern Province of Zambia: Detection and Characterization of Alpha, Beta, Delta, and Omicron Variants of Concern
Published 2022-08-01“…Across the 40 genomes analysed, a total of 292 mutations were observed, including 182 missense mutations, 66 synonymous mutations, 23 deletions, 9 insertions, 1 stop codon, and 11 mutations in the non-coding region. …”
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4223
A multi-epitope vaccine GILE against Echinococcus Multilocularis infection in mice
Published 2023-01-01“…IntroductionThe objective of this study is to construct a multi-epitope vaccine GILE containing B-cell and T-cell epitopes against Echinococcus Multilocularis (E. multilocularis) infection based on the dominant epitopes of E. multilocularis EMY162, LAP, and GLUT1.MethodsThe structure and hydrophobicity of GILE were predicted by SWISSMODEL, pyMOL, SOPMA and VMD, and its sequence was optimized by Optimum™ Codon. The GILE gene was inserted into pCzn1 and transformed into Escherichia coli Arctic express competent cells. …”
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4224
Case report: Extending the spectrum of clinical and molecular findings in FOXC1 haploinsufficiency syndrome
Published 2023-06-01“…Patient 2 had a heterozygous single nucleotide deletion, resulting in a frameshift and a premature stop codon in FOXC1 (NM_001453.3): c.467del, p.(Pro156Argfs*25). …”
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4225
Genomic characterization of SARS-CoV-2 in Egypt: insights into spike protein thermodynamic stability
Published 2023-06-01“…Mutation analysis shows SNPs, stop codon mutation gain, and deletion/insertion mutations, with distinct patterns of mutations governed by Nextclade or WHO variant. …”
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4226
A Nonsense Variant in <i>CCDC65</i> Gene Causes Respiratory Failure Associated with Increased Lamb Mortality in French Lacaune Dairy Sheep
Published 2021-12-01“…After variant calling and filtering against the variants of 86 non-carrier rams, we have identified a single nucleotide variant (SNV) in the two LDHH6 carriers whose variant allele induced a premature stop codon (p.Glu111*) in the <i>Coiled-Coil Domain Containing 65</i> (<i>CCDC65</i>) gene. …”
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4227
基于组合优化策略在毕赤酵母中高效表达 杜邦嗜热菌脂肪酶High-efficient expression of Thermomyces dupontii lipase in Pichia pastoris based on combinatorial optimization strategy...
Published 2022-07-01“…Firstly, a Pichia pastoris prefered codon optimized LIP1 gene was constructed, and the recombinant strain with higher LIP1 gene copy numbers was screened through high-concentration G418 plates and BMMY-rhodamine B qualitative plates. …”
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4228
A case report: New-onset refractory status epilepticus in a patient with FASTKD2-related mitochondrial disease
Published 2023-01-01“…(Arg358Ter);(Arg358Ter)] in FASTKD2 (NM_001136193), resulting in a premature termination codon in the protein-coding region and loss of function of FASTKD2. …”
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4229
Identification of positively selected genes in Mycobacterium tuberculosis from southern Xinjiang Uygur autonomous region of China
Published 2024-04-01“…There was a codon in Rv0336 under positive selection in L3 strains but not in L2 and L4 strains. …”
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4230
METTL1 promotes neuroblastoma development through m7G tRNA modification and selective oncogenic gene translation
Published 2022-09-01“…Further analysis revealed these genes contained higher frequency of codons decoded by m7G-modified tRNAs and were enriched in oncogenic pathways. …”
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4231
Whole‐exome sequencing identifies a donor splice‐site variant in SMPX that causes rare X‐linked congenital deafness
Published 2019-11-01“…The variant generated a novel frameshift variant, creating a premature termination codon (PTC) upstream of a newly formed splice site (p.Met45Glyfs*16). …”
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4232
PRIMEIRO RELATO DE CASO DE FAMILIA BRASILEIRA COM HEMOGLOBINAS VARIANTES RARAS: HB MAPUTO E HB OKAYAMA
Published 2023-10-01“…Segundo banco de dados de genes variantes da Globina (https://globin.bx.psu.edu/), as Hb Maputo e G Copenhagen apresentam mutação no mesmo códon, a mutação observada foi correspondente à Hb Maputo. …”
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4233
Unraveling the Pathobiological Role of the Fungal KEOPS Complex in Cryptococcus neoformans
Published 2022-12-01“…Supporting its pleiotropic roles, the CnKEOPS complex not only played conserved roles in t6A modification of ANN codon-recognizing tRNAs but also acted as a major transcriptional regulator, thus controlling hundreds of genes involved in various cellular processes, particularly ergosterol biosynthesis. …”
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4234
Spastic paraplegia preceding PSEN1‐related familial Alzheimer's disease
Published 2021-01-01“…We found that PSEN1 cases manifesting initially as SP have a later age of onset, are associated with mutations located beyond codon 200, and showed larger diffuse, cored plaques, amyloid‐ring arteries, and severe CAA. …”
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4235
Capsular Polysaccharide Is Essential for the Virulence of the Antimicrobial-Resistant Pathogen Enterobacter hormaechei
Published 2023-04-01“…Comparative genomics between the serum-sensitive NR3055 strain and the isolated serum-resistant clones revealed a premature stop codon in the wzy gene of the capsular polysaccharide biosynthesis locus of NR3055. …”
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4236
Thirteen complete chloroplast genomes of the costaceae family: insights into genome structure, selective pressure and phylogenetic relationships
Published 2024-01-01“…The gene orders, gene contents, amino acid frequencies and codon usage within Costaceae were highly conservative, but several variations in intron loss, long repeats, simple sequence repeats (SSRs) and gene expansion on the IR/SC boundaries were also found among these 13 genomes. …”
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4237
RGA1 regulates grain size, rice quality and seed germination in the small and round grain mutant srg5
Published 2024-03-01“…A SNP at the splice site of the first intron disrupted the normal splicing of the RGA1 transcript precursor, resulting in a premature stop codon. Additional linkage analysis confirmed that the target gene causing the srg5 mutant phenotype was RGA1. …”
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4238
<i>Populus euphratica GLABRA3</i> Binds <i>PLDδ</i> Promoters to Enhance Salt Tolerance
Published 2023-05-01“…We isolated a 1138 bp promoter fragment upstream of the translation initiation codon of <i>PePLDδ</i>. A promoter–reporter construct, <i>PePLDδ-pro</i>::GUS, was introduced into Arabidopsis plants (<i>Arabidopsis thaliana</i>) to demonstrate the NaCl-induced <i>PePLDδ</i> promoter activity in root and leaf tissues. …”
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4239
Clinical and biochemical effects of omega-3 fatty acid supplementation on patients with homozygous sickle cell disease
Published 2011“…Sickle Cell Disease (SCD) is a group of autosomal recessive genetic blood disorders due to a mutation in the sixth codon of the β goblin gene. The resultant haemoglobin S (HbS) polymerises under low oxygen tension causes rigid, sickled red blood cells. …”
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4240
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
Published 2017“…The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (p.Tyr35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. …”
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