Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 19 of 19 for “"Premature stop codon"”.
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The direct injection of CRISPR/Cas9 system into porcine zygotes for genetically modified pig production
… (indel) mutations did not always introduce a premature stop codon because it did not interfere with the codon read. As a result of these triplet indel(s) mutations, a hypomorphic phenotype was presented; consequently, the mutated gene was partially functional. To prevent this hypomorphic …
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CRISPR-based approach enables targeted random nucleotide diversification in mammalian cells
… its use in mammalian cells by reverting a premature STOP codon in an eGFP reporter system. We successfully use hEvolvR to restore antibiotic resistance under selective pressure. Furthermore, hEvolvR allowed us to generate variants of SARS- CoV-2 Spike-PP protein with restored fusogenic …
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Retroviral-Medicated Transfer of Suppressor tRNA Genes Into Human Cells
… expressing suppressor tRNA that recognize the premature stop codon, insert the appropriate amino acid, and allow translation of a full-length, functional protein. Human opal arginine suppressor tRNA genes that encode the structural portion of the tRNA and about 15 bases from the 3' flanking …
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Alternative Mrna Splicing Redefines The Landscape Of Commonly Dysregulated Genes Across The Acute Myeloid Leukemia Patient Population.
… splicing in sporadic AML, resulting in a premature stop codon that phenocopies the loss-of-function germline mutations observed in familial AML. The identification of DHX34 splicing event that functionally downregulates the nonsense-mediated mRNA degradation (NMD) pathway motivated a query …
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Genetic and Cytological Analysis of the Spindle Assembly Checkpoint Component BUB-3 in DNA Damage Response
… radiation. We showed that gt2000 introduces a premature stop codon in the bub-3 gene. BUB-3 is a key component of the spindle assembly checkpoint. Irradiated bub-3(gt2000) larvae are developmentally retarded and form abnormal vulvae, consistent with the idea that BUB-3 acts during development. …
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Analysis of the Function of Megf7 During Development
… a functional analysis of Megf7. The Megf7EC Stop mutant, which has a premature stop codon inserted upstream of the transmembrane domain, had defects in limb, tooth, and mammary gland development. Subsequent analysis showed that the defects in limb development were caused by the expansion of …
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The identification and characterization of the interaction between Upf1 and PAB1 during nonsense-mediated decay & the identification of novel protein complexes associated with translation termination factor eRF1
… which rapidly degrades mRNAs that contain a premature stop codon (PTC). I identified that the interaction between Upfl, which is required for NMD, and PAB1 occurs via the RRM1 domain of PAB1 in the yeast Saccharomyces cerevisiae. Determining the role of this interaction during NMD was …
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Serotype Association and Regulation of the Hyaluronate Lyase Gene of <i>Streptococcus pyogenes</i>
… a 3' deletion and a gene that produces a prematurely truncated protein. This work was intended to show that the structure of <em>hyl</em>A is associated with serotype, and therefore, disease pattern of <em>S. pyogenes.</em></p> <p>The structure of <em>hyl</em>A was determined to have two …
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Identifying natural modifiers of meiotic crossover frequency in Arabidopsis thaliana
… within the interval was fine-mapped to a premature stop codon in TATA Binding Protein (TBP)-associated factor 4b (TAF4b) in Bur-0 (taf4b-1). TAF4b is a subunit of the TFIID complex, a multi-protein general transcription factor complex comprising TBP and numerous TAFs that forms a component …
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Understanding Autism Pathology: Insights from Genetic Mouse Model Manipulation of KCTD13 and SHANK3
… 21 (Shank3G). The resulting frameshift causes a premature STOP codon and loss of major higher molecular weight SHANK3 isoforms at the synapse. At the cellular level, Shank3G/G mice exhibit impaired hippocampal excitatory transmission and plasticity as well as changes in baseline NMDA …
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Reverse genetics analysis of biological functions of zinc transporters Znt1 (Slc30a1) & Zip10 (Slc39a10) in zebrafish
… TILLING technology. The mutant fish carries a premature stop codon in the znt1 (slc30a1) gene resulting in a protein that is forty (40) amino acids shorter than the wild- type. A colony of this strain was generated and the mutation studied for its effects on ability of embryos to regulate Zn2+ …
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Functional Characterisation of a RECQL4 Mutation in Rothmund-Thomson Syndrome
… splice site in exon 14 which skipped the premature stop codon and resulted in the deletion of 66 amino acids in the RECQL4 ATPase domain. Despite the lower overall RECQL4 expression, single cell clones bearing the Mut-2 mutation showed mostly normal cell cycle distribution with a slight …
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Studio in vitro dell'espressione di varianti del gene CFTR con ruolo patofisiologico non ancora definito
… insertion, leading to the creation of a premature stop codon located 8 amino acids after the beginning of the duplicated exon 7; iii) the c.1584+18672 A>G deep-intronic mutation, identified in five different patients, was characterized by a combination of in-vitro (hybrid minigene …
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Pseudomonas aeruginosa genetics and virulence in cystic fibrosis and bacteraemia
… for complex phenotypes, most notably a premature stop-codon in the global transcriptional regulator rhlR, as well as several novel, potentially significant associations. An additional 352 P. aeruginosa isolates from patients with bacteraemia were also whole-genome sequenced. These …
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GENETIC DISSECTION OF PINE1 CONTROLLED STEM ELONGATION AND NEW INSIGHTS INTO LONG DAY FLOWERING IN ORYZA SATIVA
… internodes elongate to allow heading. Recently, PREMATURE INTERNODE ELONGATION1 (PINE1), a C2H2 zinc f inger transcription factor, was described as the responsible for stem elongation during flowering and under submergence in deepwater rice. PINE1 is highly expressed when the stem is compact and …
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Analysis of the genome organization and fitness traits of non-pathogenic Escherichia coli strain Nissle 1917 (O6:K5:H1)
… shift mutation in wzy, due to the presence of a premature stop codon. It was shown that the restoration of the O side-chain LPS polymerization by complementation with a functional wzy gene increased serumresistance of strain Nissle 1917. The results of this study show that despite the genome …
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IDENTIFICATION OF LOCI CONTRIBUTING TO THE SMITH-MAGENIS SYNDROME-LIKE PHENOTYPE AND MOLECULAR EVALUATION OF THE RETINOIC ACID INDUCED 1 GENE
… who has an insertion in HDAC4 which results in a premature stop codon. We conclude from this study that mutation of HDAC4 results in brachydactyly mental retardation syndrome. With regard to deletion 2q23 syndrome there were only five known cases in the published literature to which we were able …
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Characterization of virulence-attenuated Listeria monocytogenes common among food and food-associated environments but rarely associated with disease
… nucleotide polymorphisms (SNPs) leading to a premature stop codon (PMSC) in the key virulence gene, inlA. The virulence factor Internalin A (InlA; encoded by inlA), facilitates the uptake of L. monocytogenes by epithelial cells that express the human isoform of E-cadherin and allows for …
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Genetic aetiology of autosomal recessive non-syndromic hearing loss in sub-Saharan African patients: evaluation using targeted and whole exome sequencing
… in SLC26A4; 6) Homozygous c.1996C>T(p.Arg666Stop) in MYO7A; 7) compound heterozygous c.6399C>A(p.Asp2133Glu) and c.2000T>C (p.Met667Thr) in CDH23. Five out of 12 variants were novel. Screening of these causative variants in known genes, in 82 singleplex HL cases from Cameroon and South Africa …