A5011891374- Galectins and Cancer Biology
- Glycosylation and Glycoproteins Research
- Monoclonal and Polyclonal Antibodies Research
- Non-Destructive Testing Techniques
- Manufacturing Process and Optimization
- Reservoir Engineering and Simulation Methods
- Drug Transport and Resistance Mechanisms
- interferon and immune responses
- Metabolomics and Mass Spectrometry Studies
- Genetic Mapping and Diversity in Plants and Animals
- Nutrition, Genetics, and Disease
- Inflammasome and immune disorders
- Genetic Associations and Epidemiology
- Viral Infectious Diseases and Gene Expression in Insects
- Single-cell and spatial transcriptomics
- Hepatitis B Virus Studies
- HIV Research and Treatment
- Radiomics and Machine Learning in Medical Imaging
- Liver Disease Diagnosis and Treatment
- Trypanosoma species research and implications
- COVID-19 Clinical Research Studies
- Advanced Neuroimaging Techniques and Applications
Human Technopole
2023-2024
University of Edinburgh
2020-2023
Institute of Genetics and Cancer
2022
Centre for Global Health Research
2021
University of Bologna
2020
Abstract Post-translational modifications diversify protein functions and dynamically coordinate their signalling networks, influencing most aspects of cell physiology. Nevertheless, genetic regulation or influence on complex traits is not fully understood. Here, we compare the same PTM two proteins – glycosylation transferrin immunoglobulin G (IgG). By performing genome-wide association analysis glycosylation, identify 10 significantly associated loci, 9 which were reported previously....
Abstract Adoption of diets based on some cereals, especially rice, signified an iconic change in nutritional habits for many Asian populations and a relevant challenge their capability to maintain glucose homeostasis. Indeed, rice shows the highest carbohydrates content glycemic index among domesticated cereals its usual ingestion represents potential risk factor developing insulin resistance related metabolic diseases. Nevertheless, type 2 diabetes obesity epidemiological patterns differ...
Changes in the N-glycosylation of immunoglobulin G (IgG) are often observed pathological states, such as autoimmune, inflammatory, neurodegenerative, cardiovascular diseases and some types cancer. However, most cases, it is not clear if disease onset causes these changes, or changes IgG among risk factors for diseases. The aim this study was to investigate casual relationships between traits 12 diseases, which alterations N-glycome were previously reported, using two sample Mendelian...
Abstract Glycans are an essential structural component of Immunoglobulin G (IgG) that modulate its structure and function. However, regulatory mechanisms behind this complex posttranslational modification not well known. Previous genome-wide association studies (GWAS) identified 29 genomic regions involved in regulation IgG glycosylation, but only a few were functionally validated. One the key functional features glycosylation is addition galactose (galactosylation). We performed GWAS...
Abstract Two decades of Genome Wide Association Studies (GWAS) have yielded hundreds thousands robust genetic associations to human complex traits and diseases. Nevertheless, the dissection functional consequences variants lags behind, especially for non-coding (RNVs). Here we characterised a set rare, with large effects on haematological by integrating (i) massively parallel reporter assay (ii) CRISPR/Cas9 screen (iii) in vivo gene expression transcript relative abundance analysis whole...
Aging | doi:10.18632/aging.205106. Azra Frkatović-Hodžić, Anika Mijakovac, Karlo MiÅ¡kec, Arina Nostaeva, Sodbo Z. Sharapov, Arianna Landini, Toomas Haller, Erik van den Akker, Sapna Sharma, Rafael R. C. Cuadrat, Massimo Mangino, Yong Li, Toma Keser, Najda Rudman, Tamara Štambuk, Maja Pučić-Baković, Irena Trbojević-Akmačić, Ivan Gudelj, Jerko Tea Pribić, Barbara Radovani, Petra Tominac, Krista Fischer, Marian Beekman, Manfred Wuhrer, Christian Gieger, Matthias B. Schulze, Clemens...
Severe COVID-19 is characterised by immunopathology and epithelial injury. Proteomic studies have identified circulating proteins that are biomarkers of severe COVID-19, but cannot distinguish correlation from causation. To address this, we performed Mendelian randomisation (MR) to identify mediate COVID-19. Using protein quantitative trait loci (pQTL) data the SCALLOP consortium, involving meta-analysis up 26,494 individuals, genome-wide association Host Genetics Initiative, MR for 157...
Abstract Biobank-scale imaging provides a unique opportunity to characterise structural and functional cardiac phenotypes how they relate disease outcomes. However, deriving specific from MRI data requires time-consuming expert annotation, limiting scalability does not exploit information dense such image acquisitions are. In this study, we applied 3D diffusion autoencoder temporally resolved Magnetic Resonance Imaging (MRI) 71,021 UK Biobank participants derive latent representing the human...
Post-translational modifications (PTMs) diversify protein functions and dynamically coordinate their signalling networks, influencing most aspects of cell physiology. Nevertheless, genetic regulation or influence on complex traits is not fully understood. Here, we compare for the first time same PTM two proteins – glycosylation transferrin immunoglobulin G (IgG). By performing genome-wide association analysis glycosylation, identified 10 significantly associated loci, all novel. Comparing...
Abstract It is often difficult to be certain which genes underlie the effects seen in association studies. However, variants that disrupt protein, such as predicted loss of function (pLoF) and missense variants, provide a shortcut identify with clear biological link phenotype interest. Glycosylation one most common post-translationalmodifications proteins, an important biomarker both disease its progression. Here, we utilised power genetic isolates, gene-based aggregation tests intermediate...
Abstract Bile acids are essential for food digestion and nutrient absorption, but also act as signalling molecules involved in hepatobiliary diseases, gastrointestinal disorders carcinogenesis. While many studies have focused on the genetic determinants of blood metabolites, research focusing specifically regulation bile general population is currently lacking. Here we investigate architecture primary secondary plasma, reporting associations with both common rare variants. By performing...