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2701
STAT3 Relays a Differential Response to Melanoma-Associated <i>NRAS</i> Mutations
Published 2020-01-01“…Here, we investigated the influence of different melanoma-associated <i>NRAS</i> mutations (codon 12, 13 or 61) on several parameters such as oncogene-induced senescence, cell proliferation, migration or colony formation in immortalized melanocytes and in melanoma cell lines. …”
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2702
Identification of a novel ANK1 gene variant c.1504-9G>A and its mechanism of intron retention in hereditary spherocytosis
Published 2024-04-01“…This variant results in a premature stop codon and the production of a truncated protein. …”
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2703
Nuclear mRNA Quality Control and Cytoplasmic NMD Are Linked by the Guard Proteins Gbp2 and Hrb1
Published 2021-10-01“…This “memory” of splicing events is important for the ribosome, which translates the RNAs in the cytoplasm. In case a stop codon was detected before an EJC, translation is blocked and the RNA is eliminated by the nonsense-mediated decay (NMD). …”
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2704
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2705
Generation of human induced pluripotent stem cell line (MUi034-A) from an unusual case of hydrops fetalis associated with homozygous hemoglobin Constant Spring
Published 2022-12-01“…Hemoglobin Constant Spring (HbCS) is unstable hemoglobin resulting from a nucleotide substitution at the termination codon of the HBA2 gene (c.427 T > C). The homozygous state for HbCS is non-transfusion dependent in adults. …”
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2706
BRAF Mutations in Melanoma: Biological Aspects, Therapeutic Implications, and Circulating Biomarkers
Published 2023-08-01“…The most frequent oncogenic BRAF mutations consist of a single point mutation at codon 600 (mostly V600E) that leads to constitutive activation of the BRAF/MEK/ERK (MAPK) signalling pathway. …”
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2707
Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2A (MEN2A) syndrome with RET mutation
Published 2016-07-01“…We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 634 who developed pheochromocytoma and MTC. …”
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2708
Localization of Pyranose 2-Oxidase from <i>Kitasatospora aureofaciens</i>: A Step Closer to Elucidate a Biological Role
Published 2023-01-01“…Analysis of the genomic locus of POX from <i>Kitasatospora aureofaciens</i> (<i>Ka</i>POx), which is similar to fungal POx, revealed a start codon upstream of the originally annotated one, and the additional sequence was considered a putative Tat-signal peptide by computational analysis. …”
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2709
<i>NSDHL</i> Frameshift Deletion in a Mixed Breed Dog with Progressive Epidermal Nevi
Published 2020-10-01“…The variant is predicted to produce a premature stop codon truncating 34% of the encoded protein, p.Glu240Profs*17. …”
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2710
Upstream Open Reading Frame Mediated Translation of WNK8 Is Required for ABA Response in <i>Arabidopsis</i>
Published 2021-10-01“…Plants transformed with the native <i>WNK8</i> promoter driving WNK8 expression were comparable with wild-type plants, whereas the plants transformed with a similar construct with mutated CPuORF58 start codon were less sensitive to ABA. In addition, WNK8 and its downstream target RACK1 were found to synergistically coordinate ABA signaling rather than antagonistically modulating glucose response and flowering in plants. …”
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2711
Role of Serine 310 in the Activity and Temperature Profile of Human Caspase-9
Published 2023-01-01“…Materials and Methods: Considering that phosphorylation leads to negative charge on caspase-9, the codon of serine 310 in human capsase-9 was mutated to aspartate via quick change site-directed mutagenesis. …”
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2712
Optimization of Expression Conditions, Purification and Identification of the Recombinant Cowpea Hemoglobin Lb Ⅱ in Escherichia coli
Published 2023-02-01“…Using the pET-15b as the expression vector and E. coli BL21-CodonPlus (DE3)-R-IL as the recombinant expression host, the cowpea Lb Ⅱ was successfully expressed, then preliminarily purified this protein by using the nickel column chromatography and added ascorbic acid as the antioxidant simultaneously. …”
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2713
Changing colors and understanding: the use of mutant chromogenic protein and informational suppressor strains of Escherichia coli to explore the central dogma of molecular biology
Published 2023-12-01“…The students introduce a plasmid carrying a nonfunctional chromogenic protein gene due to a nonsense mutation in a codon encoding the chromophore to various nonsense suppressor strains of Escherichia coli. …”
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2714
Low‐grade serous carcinoma detected from intraoperative peritoneal washings: Cytological findings and detection of KRAS mutation
Published 2022-10-01“…The genetic analysis that was done using exfoliated cells from peritoneal washings specimen by idensy™, detected KRAS mutation at codon 12/13. Conclusion The genetic investigation using cytological specimen as well as characteristic cytological findings were useful to make differential diagnosis between LGSC and HGSC.…”
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2715
Coupling Bioorthogonal Chemistries with Artificial Metabolism: Intracellular Biosynthesis of Azidohomoalanine and Its Incorporation into Recombinant Proteins
Published 2014-01-01“…In particular, we engineered the intracellular biosynthesis of L-azidohomoalanine from O-acetyl-L-homoserine and NaN3, and achieved its direct incorporation into recombinant target proteins by AUG codon reassignment in a methionine-auxotroph E. coli strain. …”
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2716
<i>Ustilago maydis</i> Metabolic Characterization and Growth Quantification with a Genome-Scale Metabolic Model
Published 2022-05-01“…Here, we report the first genome-scale metabolic model (GSMM) of <i>Ustilago maydis</i> (iUma22) for the simulation of metabolic activities. iUma22 was reconstructed from sequencing and annotation using PathwayTools, and the biomass equation was derived from literature values and from the codon composition. The final model contains over 25% annotated genes (6909) in the sequenced genome. …”
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2717
Cloning and Expression of Domain III of Dengue Virus Type 2 Envelope Protein in Escherichia Coli
Published 2013-07-01“…For high expression level, the sequence of EDIII2 gene was optimized for appropriate codon usage and GC content. The coding gene sequence was approved by sequencing and enzymatic digestion. …”
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2718
Analysis of genetic variants in the exon 2 and 3 of autosomal DAZLA gene among infertile South Indian men
Published 2023-06-01“…We also discovered two new deleterious genetic variations in exon 3 of the DAZLA gene, one nonsynonymous mutation that replaced Valine with Glutamate at the 66 codon position and the other a stop gain mutation at the 74 amino acid position. …”
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2719
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2720
Using runaway replication to express polyhydroxyalkanoic acid (pha) genes from a novel marine bacterium in enteric bacteria: The influence of temperature and phasins on PHA accumul...
Published 2022-01-01“…A mutational analysis confirmed the identity of the start codon for the PHA synthase gene and provided evidence supporting the requirement for phasins to allow for PHA accumulation in the recombinant hosts. …”
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