Publications by authors named "Tatiana Karp"
Introduction: Asthma is an inflammatory airways disease encompassing multiple phenotypes and endotypes. Several studies suggested gene expression in nasal epithelium to serve as a proxy for bronchial epithelium, being a non-invasive approach to investigate lung diseases. We hypothesised that molecular differences in upper airway epithelium reflect asthma-associated differences in the lower airways and are associated with clinical expression of asthma.
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- Whole-genome sequencing (WGS) provides a valuable dataset of 1,171 highly admixed elderly Brazilians, revealing over 76 million genetic variants, including many that are missing from public databases.
- The study identifies around 2,000 new mobile element insertions, nearly 5 Mb of unique genomic segments, and over 140 rare HLA gene alleles, showcasing the utility of WGS in uncovering previously unknown genetic information.
- It highlights the clinical relevance of the findings by reclassifying variants linked to Mendelian disorders and suggests improvements in genomic imputation methods using WGS data from underrepresented populations.
Article Synopsis
- C1q domain-containing (C1qDC) proteins act as pattern recognition receptors in the immune system, and a new protein called MkC1qDC was identified in the hemolymph of a Northwest Pacific bivalve mollusk.
- MkC1qDC consists of 176 amino acids and shows antibacterial properties against various bacteria, binding to certain saccharides in a calcium-dependent way.
- It also inhibits the growth of human cancer cells (HeLa), suggesting its potential for biomedical applications.