A5069209412- Bioinformatics and Genomic Networks
- Genetic Mapping and Diversity in Plants and Animals
- Adipose Tissue and Metabolism
- Advanced Proteomics Techniques and Applications
- Genomics and Rare Diseases
- Connective tissue disorders research
- Malaria Research and Control
- Health, Environment, Cognitive Aging
- Protease and Inhibitor Mechanisms
- Genetic and phenotypic traits in livestock
- Gene expression and cancer classification
- Epigenetics and DNA Methylation
- vaccines and immunoinformatics approaches
- Mitochondrial Function and Pathology
- Metabolomics and Mass Spectrometry Studies
- Mosquito-borne diseases and control
- Ubiquitin and proteasome pathways
- Metabolism, Diabetes, and Cancer
- Chronic Kidney Disease and Diabetes
- Diet and metabolism studies
- Cardiomyopathy and Myosin Studies
- Genetic Associations and Epidemiology
- Parasites and Host Interactions
- Bone health and treatments
- Cardiac Imaging and Diagnostics
Jackson Laboratory
2020-2025
University of North Carolina at Chapel Hill
2025
Universidade de São Paulo
2017-2021
Szent Imre Egyetemi Oktatókórház
2014
Little is known about the molecular changes that take place in kidney during aging process. In order to better understand these changes, we measured mRNA and protein levels genetically diverse mice at different ages. We observed distinctive change as a function of age. Changes both are associated with increased immune infiltration decreases mitochondrial function. Proteins show greater extent reveal wide array biological processes including unique, organ-specific features kidney. Most...
Investigation of the molecular mechanisms aging in human heart is challenging because confounding factors, such as diet and medications, well limited access to tissues from healthy individuals. The laboratory mouse provides an ideal model study individuals a controlled environment. However, previous studies have examined only narrow range genetic variation that shapes individual differences during aging. Here, we analyze transcriptome proteome data 185 genetically diverse male female mice at...
Abstract Background Phosphorylation of proteins is a key step in the regulation many cellular processes including activation enzymes and signaling cascades. The abundance phosphorylated peptide (phosphopeptide) determined by its parent protein proportion target sites that are phosphorylated. Results We quantified phosphopeptides, proteins, transcripts heart, liver, kidney tissue samples mice from 58 strains Collaborative Cross strain panel. mapped ~700 phosphorylation quantitative trait loci...
Resistance to antimalarial drugs remains a major obstacle malaria elimination. Multiplexed, targeted amplicon sequencing is being adopted for surveilling resistance and dissecting the genetics of complex infections. Moreover, genotyping parasites detection molecular markers drug in resource-limited regions requires open-source protocols processing samples, using accessible reagents, rapid methods numerous samples including pooled sequencing. Plasmodium falciparum Streamlined Multiplex...
Model organisms have provided critical insights into the basic biology of metabolic disorders, however, one greatest limitations to translation has been absence genetic heterogeneity that is characteristic human populations. We examined health across three genetically diverse mouse strains fed control (low fat, no sucrose) or unhealthy (high high diets and observed a wide range responses from overt type 2 diabetes in NZO/HlLtJ mice, obesity glucose intolerance C57BL/6J complete resilience...
The COVID-19 pandemic showcased the power of genomic surveillance in tracking infectious diseases, driving rapid public health responses and global collaboration. This same infrastructure is being leveraged for malaria molecular (MMS) Africa to tackle challenges like artemisinin partial resistance Plasmodium falciparum histidine-rich protein 2 3 gene deletions. However, variability sequencing methods data reporting currently limiting validation, comparability, reuse data. To maximize impact...
<title>Abstract</title> Model organisms have provided critical insights into the basic biology of metabolic disorders, however, one greatest limitations to translation has been absence genetic heterogeneity that is characteristic human populations. We examined health across three genetically diverse mouse strains fed control (low fat, no sucrose) or unhealthy (high high diets and observed a wide range responses from overt type 2 diabetes in NZO/HlLtJ mice, obesity glucose intolerance...
Abstract The Collaborative Cross and the Diversity Outbred mouse populations are related multiparental populations, derived from same 8 isogenic founder strains. They carry &gt;50 M known genetic variants, which makes them ideal tools for mapping loci that regulate phenotypes, including physiological molecular traits. Mapping quantitative trait requires statistical computational training, can present a barrier to access some researchers. QTLViewer software allows users graphically...
ABSTRACT Background Resistance to antimalarial drugs remains a major obstacle malaria elimination. Multiplexed, targeted amplicon sequencing is being adopted for surveilling resistance and dissecting the genetics of complex infections. Moreover, genotyping parasites detection molecular markers drug in resource-limited regions requires open-source protocols processing samples, using accessible reagents, rapid methods numerous samples including pooled sequencing. Methods P lasmodium falciparum...
Mitochondria play an important role in both normal heart function and disease etiology. We report analysis of common genetic variations contributing to mitochondrial functions using integrative proteomics approach a panel inbred mouse strains called the Hybrid Mouse Diversity Panel (HMDP). performed whole proteome study HMDP (72 strains, n=2-3 mice) retrieved 848 proteins (quantified ≥50 strains). High-resolution association mapping on their relative abundance levels revealed three...
Sickle cell anemia (SCA) is a monogenic disease of high mortality, affecting millions people worldwide. There no broad, effective, and safe definitive treatment for SCA, so the palliative treatments are most used. The establishment an in vitro model allows better understanding how occurs, besides allowing development more effective tests treatments. In this context, iPSC technology powerful tool basic research modeling, promise finding screening drugs, possibility use regenerative medicine....
Abstract Marfan syndrome (MFS) is a connective tissue disease caused by variants in the FBN1 gene. Nevertheless, other genes influence manifestations of disease, characterized high clinical variability even within families. We mapped modifier loci for cardiovascular and skeletal mg∆ loxPneo mouse model MFS synthenic human genome. Corroborating our findings, one those was identified also as locus patients. Here, we investigate HSPG2 gene, located this region, candidate gene MFS. show...
Abstract Multi-parent populations (MPPs), genetically segregating model systems derived from two or more inbred founder strains, are widely used in biomedical and agricultural research. Gene expression profiling by direct RNA sequencing (RNA-Seq) is commonly applied to MPPs investigate gene regulation identify candidate genes. In diverse populations, including most MPPs, quantification of improved when the RNA-Seq reads aligned individualized transcriptomes that incorporate known polymorphic...
Abstract Phosphorylation of proteins is a key step in the regulation many cellular processes including activation enzymes and signaling cascades. The abundance phosphorylated peptide (phosphopeptide) determined by its parent protein proportion target sites that are phosphorylated. We quantified phosphopeptides, proteins, transcripts heart, liver, kidney tissue samples mice from 58 strains Collaborative Cross strain panel. mapped ∼700 phosphorylation quantitative trait loci (phQTL) across...
Marfan syndrome (MFS) is an autosomal dominant disease affecting cardiovascular, ocular and skeletal systems. It caused by mutations in the fibrillin-1 (FBN1) gene, leading to structural defects of connective tissue increased activation TGF-β. Angiotensin II (ang-II) involved TGF-β activity bone mass regulation. Inhibition signaling blockage ang-II receptor 1 (AT1R) via losartan administration leads improvement cardiovascular pulmonary phenotypes, but has no effect on phenotype...
ABSTRACT The Collaborative Cross (CC) and the Diversity Outbred (DO) mouse populations are related multiparental (MPPs), derived from same eight isogenic founder strains. They carry >50M known genetic variants, which makes them ideal tools for mapping loci that regulate phenotypes, including physiological molecular traits. Mapping quantitative trait (QTLs) requires statistical computational training, can present a barrier to access some researchers. QTLViewer software is graphical user...
Although many genes are subject to local regulation, recent evidence suggests that complex distal regulation may be more important in mediating phenotypic variability. To assess the role of gene traits, we combined multi-tissue transcriptomes with physiological outcomes model diet-induced obesity and metabolic disease a population Diversity Outbred mice. Using novel high-dimensional mediation analysis, identified composite transcriptome signature summarized genetic effects on expression...
ABSTRACT Investigation of the molecular mechanisms aging in human heart is challenging due to confounding factors, such as diet and medications, well limited access tissues. The laboratory mouse provides an ideal model study healthy individuals a controlled environment. However, previous studies have examined only narrow range genetic variation that shapes individual differences during aging. Here, we analyzed transcriptome proteome data from hearts genetically diverse mice at ages 6, 12 18...
Background: 5% of the malignant tumors stomach are lymphomas. 40% these lymphomas mucosa associated lymphoid tissue (MALT) The average age patients in time diagnosis is 60 years. antrum most frequently involved area. In case chronic Helicobacter pylori infection appears stomach, which some cases transforms to lymphoma.