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4641
Genomic analysis of HIV type 1 strains derived from a mother and child pair of long-term nonprogressors.
Published 2007“…Analysis of four genomic sequences demonstrated that all viral genes were intact, lacking major deletions or premature stop codons to easily explain the slow disease progression. …”
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4642
Analysis of antigenic surfaces of proteins.
Published 1995“…Although these changes may be rationalized in terms of the structure and chemistry of the different side chains, we suggest that there may be a further, genetic component behind the observations: point mutations in the respective codons for serine and threonine lead to markedly different forms of structural variability. …”
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4643
A locus on human chromosome 20 contains several genes expressing protease inhibitor domains with homology to whey acidic protein.
Published 2002“…In most cases, there is also a separate exon encompassing a few terminal codons and the 3' untranslated nucleotides. There are also examples of mixed type inhibitors, that encode inhibitor domains of both WAP and Kunitz types. …”
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4644
Mutagenically separated PCR assay for rapid detection of M41L and K70R zidovudine resistance mutations in CRF01_AE (subtype E) human immunodeficiency virus type 1.
Published 2002“…The concordance of the two assays was 92 and 100% in codons 41 and 70, respectively. The MS-PCR assay is a rapid, simple, and inexpensive assay that is highly sensitive in detecting mutant targets, including minor populations. …”
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4645
X-linked hypophosphatemia attributable to pseudoexons of the PHEX gene.
Published 2001“…One X-linked hypophosphatemia patient was found to have 3 abnormally large transcripts, resulting from 51-bp, 100-bp, and 170-bp insertions, all of which would lead to missense peptides and premature termination codons. The origin of these transcripts was a mutation (g to t) at position +1268 of intron 7, which resulted in the occurrence of a high quality novel donor splice site (ggaagg to gtaagg). …”
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4646
Combined molecular and clinical assessment of Plasmodium falciparum antimalarial drug resistance in the Lao People's Democratic Republic (Laos).
Published 2007“…Each sample was genotyped for 11 codons in the chloroquine resistance transporter (pfcrt), dihydrofolate reductase (pfdhfr), and dihydropteroate synthase (pfdhps) genes. …”
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4647
Expression and chromosomal localization of the Requiem gene.
Published 1998“…The human cDNA clone sequenced showed high homology to its murine counterpart and extended the open reading frame by 20 codons upstream. The gene is located in the proximal region of mouse Chromosome (Chr) 19. …”
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4648
A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.
Published 1998“…The mutation was associated with two shortened transcripts, both with shifted reading frames resulting in premature-termination codons. All the PS-1 mutations described elsewhere have been missense or in-frame splice mutations, and recent data suggest that these result in disease by gain-of-function or dominant-negative mechanisms. …”
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4649
Genomic innovation of ATD alleviates mistranslation associated with multicellularity in Animalia
Published 2020-05-01“…Therefore, ATD knockout cells display pronounced sensitivity through increased mistranslation of threonine codons leading to cell death. Strikingly, we identify the emergence of ATD along with the error inducing tRNA species starting from Choanoflagellates thus uncovering an important genomic innovation required for multicellularity that occurred in unicellular ancestors of animals. …”
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4650
The Clinical Implications of KRAS Mutations and Variant Allele Frequencies in Pancreatic Ductal Adenocarcinoma
Published 2024-04-01“…Pathogenic KRAS mutations are mostly limited to codons 12, 13 and 61, with G12D, G12V, G12R, Q61H, and G13D accounting for approximately 95% of the mutant cases. …”
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4651
Processing DNA Storage through Programmable Assembly in a Droplet‐Based Fluidics System
Published 2023-11-01“…Furthermore, eight 90 bps DNA pools with pixel information (png: 0.27–0.28 kB), encoded by codons, are synthesized to create eight 270 bps DNA pools with an animation movie chip file (mp4: 12 kB) in the DCF system.…”
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4652
Immunodetection of Truncated Forms of the α6 Subunit of the nAChR in the Brain of Spinosad Resistant <i>Ceratitis capitata</i> Phenotypes
Published 2023-11-01“…Point mutations that result in premature stop codons in the <i>α6</i> gene of <i>Ceratitis capitata</i> flies have been previously associated with spinosad resistance, but it is unknown if these transcripts are translated and if so, what is the location of the putative truncated proteins. …”
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4653
CHARACTERIZATION AT PROTEIN LEVEL OF THE NEW αS1 CASEIN ALLELE IRV DISCOVERED IN ROMANIAN GREY STEPPE CATTLE BREED MOLDAVIAN VARIETY
Published 2023-11-01“…The only possible substitution found is concerning the glutamine (Q) residue codified by codons from exons 8, 9 or 11. This is under study also at DNA level. …”
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4654
The functional mutational landscape of the lacZ gene
Published 2023-12-01“…Those mutations affected 492 of the 1,023 lacZ codons, including most of the 21 previously known residues critical for catalytic activity. …”
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4655
Photon Dissipation as the Origin of Information Encoding in RNA and DNA
Published 2020-08-01“…Indeed, we show here that those amino acids with characteristics most relevant to fomenting UVC photon dissipation are precisely those with greatest chemical affinity to their codons or anticodons. This could provide a thermodynamic basis for the specificity in the amino acid-nucleic acid interaction and an explanation for the accumulation of information in nucleic acids since this information is relevant to the optimization of dissipation of the externally imposed thermodynamic potentials. …”
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4656
Is Apolipoprotein E ε2 Associated with Delayed Onset of Non-Lesional Temporal Lobe Epilepsy?
Published 2017-01-01“…ApoE alleles were determined by a procedure where genome DNA was amplified by chain reaction along with polymerase, using the LightCycler kit (Roche) for ApoE mutations on codons 112 and 158. There was a statistically significant difference between the groups of patients with ApoE ε2/3 and ε3/4 genotypes (p=0.03), but not between patients with ApoE ε2/3 and ε3/3, and those with ApoE ε3/4 and ε3/3. …”
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4657
Impact of C‐terminal amino acid composition on protein expression in bacteria
Published 2020-05-01“…We then studied the impact of C‐terminal composition on protein levels in a library of Mycoplasma pneumoniae mutants, covering all possible combinations of the two last codons. We found that charged and polar residues, in particular lysine, led to higher expression, while hydrophobic and aromatic residues led to lower expression, with a difference in protein levels up to fourfold. …”
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4658
Small open reading frames: a comparative genetics approach to validation
Published 2023-05-01“…Abstract Open reading frames (ORFs) with fewer than 100 codons are generally not annotated in genomes, although bona fide genes of that size are known. …”
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4659
Kinetic modeling predicts a stimulatory role for ribosome collisions at elongation stall sites in bacteria
Published 2017-05-01“…To decipher ribosome kinetics at stall sites, we induced ribosome stalling at specific codons by starving the bacterium Escherichia coli for the cognate amino acid. …”
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4660
Compromised nonsense-mediated RNA decay results in truncated RNA-binding protein production upon DUX4 expression
Published 2023-06-01“…Summary: Nonsense-mediated RNA decay (NMD) degrades transcripts carrying premature termination codons. NMD is thought to prevent the synthesis of toxic truncated proteins. …”
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