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  1. 2121
  2. 2122

    Glaucoma in Costa Rica: Initial approaches by Gabriela Chavarría-Soley, Bernd Rautenstrauss, Jorge Azofeifa

    Published 2004-09-01
    “…This mutation has been found in different countries and generates an early stop codon that termitates protein synthesis 140 amino acids earlier than the normal allele. …”
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    Article
  3. 2123

    Extrapolating the susceptibility of Eld’s deer (Rucervus eldii thamin) to chronic wasting disease from prion protein gene (PRNP) polymorphisms by Tolulope I.N. Perrin-Stowe, Tolulope I.N. Perrin-Stowe, Yasuko Ishida, Dolores M. Reed, Emily E. Terrill, Oliver A. Ryder, Oliver A. Ryder, Jan E. Novakofski, Jan E. Novakofski, Nohra E. Mateus-Pinilla, Nohra E. Mateus-Pinilla, Nohra E. Mateus-Pinilla, Nohra E. Mateus-Pinilla, Budhan S. Pukazhenthi, Alfred L. Roca, Alfred L. Roca, Alfred L. Roca, Alfred L. Roca, Alfred L. Roca

    Published 2022-10-01
    “…The more common Eld’s deer PrP variant encodes methionine at codon 208 and glutamine at codon 226. Because this protein variant is identical to a common PrP variant in white-tailed deer and mule deer and is especially common in white-tailed deer positive for CWD, we recommend reducing the frequency of this variant in the breeding stock, while implementing strict management practices to avoid exposure to wild North American cervids. …”
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  4. 2124
  5. 2125

    Correlation between <i>KRAS</i> Mutation and <i>CTLA-4</i> mRNA Expression in Circulating Tumour Cells: Clinical Implications in Colorectal Cancer by Sharmin Aktar, Farhadul Islam, Tracie Cheng, Sujani Madhurika Kodagoda Gamage, Indra Neil Choudhury, Md Sajedul Islam, Cu Tai Lu, Faysal Bin Hamid, Hirotaka Ishida, Ichiro Abe, Nan Xie, Vinod Gopalan, Alfred K. Lam

    Published 2023-09-01
    “…Six known mutations of <i>KRAS</i> were identified at both codon 12 and codon 13 (c.35G>T/G12V, c.35G>A7/G12D, c.35G>C/G12A, c.34G>A/G12S, c.38G>C/G13A, and c.38G>A/G13D). …”
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  6. 2126

    Dietary Fat Intake and <i>KRAS</i> Mutations in Colorectal Cancer in a Moroccan Population by Achraf El Asri, Karim Ouldim, Laila Bouguenouch, Mohammed Sekal, Fatima Zahra Moufid, Ellen Kampman, Inge Huybrechts, Marc J. Gunter, Sanae Abbaoui, Kaoutar Znati, Mehdi Karkouri, Khaoula El Kinany, Zineb Hatime, Meimouna Mint Sidi Deoula, Laila Chbani, Btissame Zarrouq, Karima El Rhazi

    Published 2022-01-01
    “…A <i>KRAS</i> mutation was detected in the CRC tumor of 34.4% of the patients among whom 65.4% had a single mutation at codon 12 and 34.6% had a single mutation at codon 13. …”
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  7. 2127

    One-step biotransformation of ferulic acid into biovanillin using recombinant Escherichia coli BL21 (DE3) by Zamzuri, Nur Ain

    Published 2016
    “…The recognition of GTG (Guanine-Thymine-Guanine) for both genes ech and fcs as start codon was assisted by the presence of Shine-Dalgarno sequence, which located at 8 bp for ech and 7 bp for fcs upstream the initiation codon. …”
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  8. 2128

    In silico-guided sequence modifications of K-ras epitopes improve immunological outcome against G12V and G13D mutant KRAS antigens by Wee, Allan Ren Ng, Tan, Pei Jun, Pui, Winfrey Yee Hoo, Liew, Dek Shen, Yee, Michelle Mun Teo, Pui, Yan Siak, Ng, Sze Man, Tan, Ee Wern, Abdul Rahim, Raha, Lay, Renee Hong Lim, Ai, Adelene Lian Song, Lian, Lionel Aun In

    Published 2018
    “…Background: Somatic point substitution mutations in the KRAS proto-oncogene primarily affect codons 12/13 where glycine is converted into other amino acids, and are highly prevalent in pancreatic, colorectal, and non-small cell lung cancers. …”
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  9. 2129

    Development of a single-chain fragment variable fused-mutant HALT-1 recombinant immunotoxin against G12V mutated KRAS colorectal cancer cells by Teo, Michelle Yee Mun, Ng, Jeremy Jeack Ceen, Jung, Yin Fong, Jung, Shan Hwang, Song, Adelene Ai Lian, Lim, Renee Lay Hong, In, Lionel Lian Aun

    Published 2021
    “…Background: KRAS oncogenes harboring codon G12 and G13 substitutions are considered gatekeeper mutations which drive oncogenesis in many cancers. …”
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  10. 2130
  11. 2131

    Unexpected absence of ribosomal protein genes from metagenome-assembled genomes by Kazumori Mise, Wataru Iwasaki

    Published 2022-11-01
    “…While some uncultivated environmental microbes intrinsically lack some ribosomal protein genes, we found that this unexpected absence is largely due to special evolutionary patterns of codon usage bias in ribosomal protein genes and algorithmic characteristics of metagenomic binning, which is dependent on tetranucleotide frequencies of contigs. …”
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  12. 2132

    Distinguishing Genetic Drift from Selection in Papillomavirus Evolution by Robert D. Burk, Lisa Mirabello, Robert DeSalle

    Published 2023-07-01
    “…For anciently diverged <i>Alphapapillomavirus</i> types, composition of the four nucleotides (A, C, G, T), codon usage, trimer usage, and 13 established non-coding DNA sequence motifs revealed phylogenetic clusters consistent with genetic drift. …”
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  13. 2133

    Significant response to pralsetinib in a medullary thyroid cancer harboring double RET variants of unknown significance by Ségolène Hescot, Julien Masliah-Planchon, Pauline du Rusquec, Célia Dupain, Maud Kamal, Vincent Servois, Ivan Bieche

    Published 2023-01-01
    “…The most frequent somatic RET mutation occurs in codon M918, reported in up to 90% of RET-positive MTC cases (2). …”
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  14. 2134

    Dilated cardiomyopathy in a child with truncating mutation in NRAP gene by Hind Abdelrahman Ahmed, Saleh Al-ghamdi, Fuad Al Mutairi

    Published 2018-12-01
    “…(Cys134 Serfs*12), which create premature stop codon. Conclusion: This case report supports preceding reports that biallelic deletion mutations in NRAP gene cause an autosomal recessive DCM with low penetrance genetic risk factor. …”
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  15. 2135

    Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene by Wei You, Jianming Yang, Lu Wang, Yanqun Liu, Wen Wang, Li Zhu, Wei Wang, Jun Yang, Fangyuan Chen

    Published 2022-05-01
    “…Both the patient proband and his father were identified with insulin receptor exon 19c.3472C&gt;T(p.Arg1158Trp), which resulted in a missense mutation that led to replace by a base in the amino acid codon. We found that the patient proband and his father exhibited high insulin and C-peptide release after glucose stimulation by insulin and C-peptide release tests. …”
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  16. 2136

    Mutation Analyses of COL7A1 Gene in Three Taiwanese Patients with Severe Recessive Dystrophic Epidermolysis Bullosa by Sheau-Chiou Chao, Julia Yu-Yun Lee

    Published 2007-01-01
    “…The first three of these mutations resulted in premature termination codons, while G2061E caused a glycine substitution mutation in the triple-helical domain. …”
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  17. 2137

    The complete mitochondrial genome of Mactra quadrangularis (Mactridae) by Chen Guan, Xin-Yu Zhao, Huan-Xin Zhang, Jun Chen, Tong-Fei Qu, Cheng-Zong Hou, Xue-Xi Tang, Ying Wang

    Published 2021-08-01
    “…The base composition was 25.75% A, 20.82% G, 11.53% C, and 41.90% T, respectively. Furthermore, state codon of ND4 was ATT; ND1 and CYTB were ATA; COX1 was GTG; ND5, COX2, ND4L, ND6, ND2, COX3, ATP6, and ND3 were ATG. …”
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  18. 2138

    The complete mitochondrial genome of the Kaloula verrucosa (Anura: Microhylidae) and phylogenetic analyses by Shouhong Wang, Lusha Liu, Meihua Zhang, Jianping Jiang

    Published 2018-07-01
    “…Five of 13 PCGs (COII, ATP6, COIII, ND3 and ND4) were ended with incomplete stop codon T. Except for ND6 gene encoded on L-strand, all other PCGs were encoded on H-strand. …”
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  19. 2139

    Emergence of a “Cyclosome” in a Primitive Network Capable of Building “Infinite” Proteins by Jacques Demongeot, Vic Norris

    Published 2019-06-01
    “…The AL sequence was constructed on an economy principle as the smallest RNA ring having one representative of each codon&#8217;s synonymy class and capable of adopting a non-functional but nevertheless evolutionarily stable hairpin form that resisted denaturation due to environmental changes in pH, hydration, temperature, etc. …”
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  20. 2140

    Complete mitochondrial genome of the Antarctic copepod Tigriopus kingsejongenesis (Harpacticoida, Harpacticidae) by Dae-Sik Hwang, Beom-Soon Choi, Min-Chul Lee, Jeonghoon Han, Sanghee Kim, Jae-Seong Lee

    Published 2019-01-01
    “…Of the 13 PCGs, CO1, ND3, ATP6, and CO3 genes had incomplete stop codons T–, T–, TA–, and T–, respectively. Furthermore, the stop codons of the remaining 11 PCGs were TAA or TAG, while the start codon of 13 PCGs was ATG (CO1, ND4, Cytb, ND2, ND1, CO2, ND6, ATP6, CO3 genes), ATT (ND5, ATP8 genes), and ATA (ND3, ND4L genes), respectively. …”
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