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2981
Rare variant contribution to cholestatic liver disease in a South Asian population in the United Kingdom
Published 2023-05-01“…Fourteen novel LoF variants were identified: 7 frameshift, 5 introduction of premature stop codon and 2 splice acceptor variants. The rare variant burden was significantly increased in ABCB11. …”
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2982
Medulloblastoma, macrocephaly, and a pathogenic germline PTEN variant: Cause or coincidence?
Published 2020-09-01“…Results Here, we report on a patient with a pathogenic germline PTEN variant resulting in an early stop codon p.(Glu7Argfs*4) (ClinVar ID: 480383). The patient developed macrocephaly and MBSHH, but reached remission with current treatment protocols. …”
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2983
Advances in Understanding the Mechanism of Cap-Independent Cucurbit Aphid-Borne Yellows Virus Protein Synthesis
Published 2023-12-01“…The proposed general mechanism of 3′-CITEs includes their binding to eukaryotic translation initiation factors (eIFs) that reach the 5′-end and AUG start codon through 5′-3′-UTR-interactions. It was previously shown that cucurbit aphid-borne yellows virus (CABYV) has a 3′-CITE, which varies in sequence and structure depending on the phylogenetic group to which the isolate belongs, possibly as a result of adaptation to the different geographical regions. …”
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2984
Isolation and Expression Analysis of the Ethylene Receptor Gene MiETR1b in Mango (Mangifera indica)
Published 2016-01-01“…The genomic DNA sequence of MiETR1b was 4 116 bp in length, having a 3 305 bp sequence from the start to terminator codon, containing six exons and five introns. The deduced amino acids possessed conserved domains of the GAF and HATPase_c superfamilies. …”
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2985
Immunoinformatics Approach to Design a Chimeric CD70-Peptide Vaccine against Renal Cell Carcinoma
Published 2024-01-01“…Molecular docking and dynamics analyses predicted stable interactions between CD70-CPP-TNF and the TNF receptor, indicating potential efficacy. In silico codon optimization and cloning of the vaccine nucleic acid sequence were accomplished using the pET28a plasmid. …”
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2986
Immunomodulatory properties of Leishmania tarentolae extracellular vesicles containing the Spike protein of SARS-CoV-2
Published 2024-04-01“…As a proof of concept, we expressed in L. tarentolae a codon-optimized SARS-CoV-2 Spike protein fused to the L. mexicana secreted acid phosphatase signal peptide in the N-terminal and to a 6×-His stretch in the C-terminal. …”
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2987
Isoniazid resistance profile in rifampicin resistant Mycobacterium tuberculosis
Published 2023-09-01“…All samples were tested for mutation in katG (codon 315) and inhA promoter (-5, -8, -15 and -16) genes to detect INH resistance by real-time PCR. …”
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2988
Molecular diversity analysis in hexaploid wheat (Triticum aestivum L.) and two Aegilops species (Aegilops crassa and Aegilops cylindrica) using CBDP and SCoT markers
Published 2021-04-01“…The main objective of the current study was to estimate molecular variability within the set of 91 samples from Triticum aestivum, Aegilops cylindrica, and Aegilops crassa species using 30 CAAT box–derived polymorphism (CBDP) and start codon targeted (SCoT) markers. Results Fifteen SCoT and Fifteen CBDP primers produced 262 and 298 fragments which all of them were polymorphic, respectively. …”
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2989
Genetic diversity and bioinformatic analysis in the L1 gene of HPV genotypes 31, 33, and 58 circulating in women with normal cervical cytology
Published 2023-03-01“…Twenty nine nucleotide changes corresponded to nonsynonymous substitutions in which seventeen mutations were located in L1 loops. Only one codon position in HPV-58 sequences was found as the positive selection. …”
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2990
Family’s History Based on the <i>CDH1</i> Germline Variant (c.360delG) and a Suspected Hereditary Gastric Cancer Form
Published 2020-07-01“…This frameshift deletion generates a premature stop codon at the amino acid 214, which leads to a truncated E-cadherin protein detecting it as a deleterious variant. …”
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2991
Cysteinyl leukotriene receptor 1 is dispensable for osteoclast differentiation and bone resorption.
Published 2022-01-01“…These mutant mice had a frameshift mutation resulting in a premature stop codon (Cysltr1 KO) or an in-frame mutation causing the deletion of the first extracellular loop (Cysltr1Δ105). …”
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2992
Association of p21 SNPs and risk of cervical cancer among Chinese women
Published 2012-12-01“…<p>Abstract</p> <p>Background</p> <p>The p21 codon 31 single nucleotide polymorphism (SNP), rs1801270, has been linked to cervical cancer but with controversial results. …”
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2993
Targeted Mutagenesis of the Female-Suppressor <i>SyGI</i> Gene in Tetraploid Kiwifruit by CRISPR/CAS9
Published 2020-12-01“…Despite not yet being able to verify the phenotypic effects on the flower structure, due to the long time required by tissue-cultured kiwifruit plants to flower, we obtained two regenerated lines showing near fixation of a unique modification in their genome, resulting in both cases in the onset of a premature stop codon, which induces the putative gene knock-out. …”
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2994
Altered larval activation response associated with multidrug resistance in the canine hookworm Ancylostoma caninum
Published 2024-03-01“…A second, recently described mutation in codon 134 (Q134H) was also detected at lower frequency in the BCR population. …”
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2995
Analysis of BRCA1 and BRCA2 mutations in Brazilian breast cancer patients with positive family history
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2996
Mutation Analysis and Single Nucleotide Polymorphism (SNP) of TP53 in Breast CancerIn East Java
Published 2021-09-01“…Substitution of Guanine (G) to base Adenine (A)is occur in codon 496 which is a coding region. SNP was also obtained in exon of sample 12. …”
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2997
Mitochondrial genomes of two phlebotomine sand flies, Phlebotomus chinensis and Phlebotomus papatasi (Diptera: Nematocera), the first representatives from the family Psychodidae
Published 2015-09-01“…The phylogenetic relationship of 24 selected representatives of Diptera was deduced from codon positions 1 and 2 for 13 protein coding genes, using Bayesian inference (BI) and maximum likelihood (ML) methods. …”
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2998
Missense Variants in <i>COL4A1/2</i> Are Associated with Cerebral Aneurysms: A Case Report and Literature Review
Published 2024-02-01“…Results: This study included 53 <i>COL4A1/2</i> variants from 76 patients. Except for one start codon variant, all the identified variants in CA were missense variants. …”
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2999
Modeling mutation-specific arrhythmogenic phenotypes in isogenic human iPSC-derived cardiac tissues
Published 2024-01-01“…To model inherited cardiac arrhythmias we selected representative N588D and N588K missense mutations affecting the same codon in the hERG potassium channel gene KCNH2, which are reported to cause long (LQTS) and short (SQTS) QT syndromes, respectively. …”
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3000
Primary Well-Differentiated Neuroendocrine Tumor of the Kidney
Published 2023-05-01Get full text
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