Search Results - "Paula, Ruth B"
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Heritable pattern of oxidized DNA base repair coincides with pre-targeting of repair complexes to open chromatin
Published in Nucleic acids research (11-01-2021)“…Abstract Human genome stability requires efficient repair of oxidized bases, which is initiated via damage recognition and excision by NEIL1 and other base…”
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2
Functional screening of lysosomal storage disorder genes identifies modifiers of alpha-synuclein neurotoxicity
Published in PLoS genetics (18-05-2023)“…Heterozygous variants in the glucocerebrosidase (GBA) gene are common and potent risk factors for Parkinson's disease (PD). GBA also causes the autosomal…”
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Translesion polymerase eta both facilitates DNA replication and promotes increased human genetic variation at common fragile sites
Published in Proceedings of the National Academy of Sciences - PNAS (30-11-2021)“…Common fragile sites (CFSs) are difficult-to-replicate genomic regions that form gaps and breaks on metaphase chromosomes under replication stress. They are…”
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Blood-stage Plasmodium vivax antibody dynamics in a low transmission setting: A nine year follow-up study in the Amazon region
Published in PloS one (12-11-2018)“…Plasmodium vivax remains a global health problem and its ability to cause relapses and subpatent infections challenge control and elimination strategies. Even…”
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Global Characterization of Fungal Mitogenomes: New Insights on Genomic Diversity and Dynamism of Coding Genes and Accessory Elements
Published in Frontiers in microbiology (01-12-2021)“…Fungi comprise a great diversity of species with distinct ecological functions and lifestyles. Similar to other eukaryotes, fungi rely on interactions with…”
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Exploring the Relationship Among Divergence Time and Coding and Non-coding Elements in the Shaping of Fungal Mitochondrial Genomes
Published in Frontiers in microbiology (29-04-2020)“…The order Hypocreales (Ascomycota) is composed of ubiquitous and ecologically diverse fungi such as saprobes, biotrophs, and pathogens. Despite their…”
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Enriched G4 forming repeats in the human genome are associated with robust well-coordinated transcription and reduced cancer transcriptome variation
Published in The Journal of biological chemistry (01-11-2024)“…Non-B DNA G-quadruplex (G4) structures with guanine (G) runs of 2 to 4 repeats can trigger opposing experimental transcriptional impacts. Here, we used…”
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Alzheimer’s disease risk gene CD2AP is a dose-sensitive determinant of synaptic structure and plasticity
Published in Human molecular genetics (07-10-2024)“…Abstract CD2-Associated protein (CD2AP) is a candidate susceptibility gene for Alzheimer’s disease, but its role in the mammalian central nervous system…”
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Phylogenomics and gene selection in Aspergillus welwitschiae: Possible implications in the pathogenicity in Agave sisalana
Published in Genomics (San Diego, Calif.) (01-11-2022)“…Aspergillus welwitschiae causes bole rot disease in sisal (Agave sisalana and related species) which affects the production of natural fibers in Brazil, the…”
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Comparative mitogenomics of Agaricomycetes: Diversity, abundance, impact and coding potential of putative open-reading frames
Published in Mitochondrion (01-05-2021)“…[Display omitted] •Sequenced mitogenomes of the species Phellinotus piptadeniae and Trametes villosa.•Variation in mtDNA size is due to non-coding regions,…”
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