Search Results - "Diogo, Dorothee"
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Phenome-wide association studies across large population cohorts support drug target validation
Published in Nature communications (16-10-2018)“…Phenome-wide association studies (PheWAS) have been proposed as a possible aid in drug development through elucidating mechanisms of action, identifying…”
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Tyk2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits
Published in PloS one (07-04-2015)“…Copyright: © 2015 Diogo et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits…”
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Rare, Low-Frequency, and Common Variants in the Protein-Coding Sequence of Biological Candidate Genes from GWASs Contribute to Risk of Rheumatoid Arthritis
Published in American journal of human genetics (10-01-2013)“…The extent to which variants in the protein-coding sequence of genes contribute to risk of rheumatoid arthritis (RA) is unknown. In this study, we addressed…”
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Use of a Multiethnic Approach to Identify Rheumatoid- Arthritis-Susceptibility Loci, 1p36 and 17q12
Published in American journal of human genetics (09-03-2012)“…We have previously shown that rheumatoid arthritis (RA) risk alleles overlap between different ethnic groups. Here, we utilize a multiethnic approach to show…”
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An expanded analysis framework for multivariate GWAS connects inflammatory biomarkers to functional variants and disease
Published in European journal of human genetics : EJHG (01-02-2021)“…Multivariate methods are known to increase the statistical power to detect associations in the case of shared genetic basis between phenotypes. They have,…”
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A method to decipher pleiotropy by detecting underlying heterogeneity driven by hidden subgroups applied to autoimmune and neuropsychiatric diseases
Published in Nature genetics (01-07-2016)“…Soumya Raychaudhuri, Buhm Han and colleagues present a statistical method to distinguish whether shared genetic risk variants among complex traits are driven…”
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Human genetics in rheumatoid arthritis guides a high-throughput drug screen of the CD40 signaling pathway
Published in PLoS genetics (01-05-2013)“…Although genetic and non-genetic studies in mouse and human implicate the CD40 pathway in rheumatoid arthritis (RA), there are no approved drugs that inhibit…”
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Association between low density lipoprotein and rheumatoid arthritis genetic factors with low density lipoprotein levels in rheumatoid arthritis and non-rheumatoid arthritis controls
Published in Annals of the rheumatic diseases (01-06-2014)“…While genetic determinants of low density lipoprotein (LDL) cholesterol levels are well characterised in the general population, they are understudied in…”
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9
Gene flow contributes to diversification of the major fungal pathogen Candida albicans
Published in Nature communications (08-06-2018)“…Elucidating population structure and levels of genetic diversity and recombination is necessary to understand the evolution and adaptation of species. Candida…”
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10
Human Genetics in Rheumatoid Arthritis Guides a High-Throughput Drug Screen of the CD40 Signaling Pathway: e1003487
Published in PLoS genetics (01-05-2013)“…Although genetic and non-genetic studies in mouse and human implicate the CD40 pathway in rheumatoid arthritis (RA), there are no approved drugs that inhibit…”
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11
Assessing the potential of polygenic scores to strengthen medical risk prediction models of COVID-19
Published in PloS one (26-05-2023)“…As findings on the epidemiological and genetic risk factors for coronavirus disease-19 (COVID-19) continue to accrue, their joint power and significance for…”
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12
Using human genetics to improve safety assessment of therapeutics
Published in Nature reviews. Drug discovery (01-02-2023)“…Human genetics research has discovered thousands of proteins associated with complex and rare diseases. Genome-wide association studies (GWAS) and studies of…”
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13
Genotypic Evolution of Azole Resistance Mechanisms in Sequential Candida albicans Isolates
Published in Eukaryotic Cell (01-10-2007)“…Classifications Services EC Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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Fine Mapping Seronegative and Seropositive Rheumatoid Arthritis to Shared and Distinct HLA Alleles by Adjusting for the Effects of Heterogeneity
Published in American journal of human genetics (03-04-2014)“…Despite progress in defining human leukocyte antigen (HLA) alleles for anti-citrullinated-protein-autoantibody-positive (ACPA+) rheumatoid arthritis (RA),…”
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A versatile overexpression strategy in the pathogenic yeast Candida albicans: identification of regulators of morphogenesis and fitness
Published in PloS one (25-09-2012)“…Candida albicans is the most frequently encountered human fungal pathogen, causing both superficial infections and life-threatening systemic diseases…”
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Molecular Phylogenetics of Candida albicans
Published in Eukaryotic Cell (01-06-2007)“…Classifications Services EC Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley Reddit…”
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Genome-wide association studies to advance our understanding of critical cell types and pathways in rheumatoid arthritis: recent findings and challenges
Published in Current opinion in rheumatology (01-01-2014)“…PURPOSE OF REVIEWA significant number of loci implicated in rheumatoid arthritis (RA) susceptibility have been highlighted by genome-wide association studies…”
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18
Quantifying missing heritability at known GWAS loci
Published in PLoS genetics (01-12-2013)“…Recent work has shown that much of the missing heritability of complex traits can be resolved by estimates of heritability explained by all genotyped SNPs…”
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CREdb: A comprehensive database of Cis-Regulatory Elements and their activity in human cells and tissues
Published in Epigenetics & chromatin (16-07-2024)“…Cis-regulatory elements (CREs) play a pivotal role in gene expression regulation, allowing cells to serve diverse functions and respond to external stimuli…”
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The Rheumatoid Arthritis Risk Variant CCR6DNP Regulates CCR6 via PARP-1
Published in PLoS genetics (14-09-2016)“…Understanding the implications of genome-wide association studies (GWAS) for disease biology requires both identification of causal variants and definition of…”
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