Publications by authors named "C Vara"
Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.
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- - Accurate gene annotations are essential for interpreting how genomes function, and the GENCODE consortium has spent twenty years creating reference annotations for human and mouse genomes, serving as a vital resource for researchers globally.
- - Previous annotations of long non-coding RNAs (lncRNAs) were incomplete and poorly organized, hindering research, prompting GENCODE to launch a comprehensive effort that resulted in adding nearly 18,000 novel human genes and over 22,000 novel mouse genes, significantly increasing the catalog of transcripts.
- - The new annotations not only show evolutionary patterns and link to genetic variants associated with traits but also improve understanding of previously unclear genomic functions, greatly advancing research into both human and mouse genetic diseases.
During evolution, new open reading frames (ORFs) with the potential to give rise to novel proteins continuously emerge. A recent compilation of noncanonical ORFs with translation signatures in humans has identified thousands of cases with a putative de novo origin. However, it is not known which is their distribution in the population.
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- * The study employed cytological analysis and genetic methods to assess how chromosomal fusions affect recombination patterns, revealing that these fusions lead to changes like increased recombination near chromosome ends and altered interference levels in crossover events.
- * The findings highlight the combined influence of Robertsonian fusions and the Prdm9 gene on genomic recombination, with Prdm9 playing a key role at the population level, while the effects of fusions were more localized to specific chromosome regions.
Introduction: The need for new tools to treat infections is constantly growing due to the possibilities of emerging diseases related to environmental changes, climatic catastrophes, microorganism resistance, and human and animal aging, leading to an evident unbalance in the planet's health. Brazil contains the most significant portion of world biodiversity, a potential source of new antimicrobial natural products. Nonetheless, its environment, particularly its forests, and rainforests, is under threat, meaning that rapidly conducted, comprehensive research into the potential of antimicrobial activity to address this threat is urgently needed.
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