Aris N. Economides
A5002782925- TGF-β signaling in diseases
- Heterotopic Ossification and Related Conditions
- Medical Imaging and Pathology Studies
- Parathyroid Disorders and Treatments
- Genetic Associations and Epidemiology
- Bone Metabolism and Diseases
- Developmental Biology and Gene Regulation
- Connective tissue disorders research
- Genomics and Rare Diseases
- Congenital heart defects research
- Wnt/β-catenin signaling in development and cancer
- Lysosomal Storage Disorders Research
- Kruppel-like factors research
- Genetic Syndromes and Imprinting
- Osteoarthritis Treatment and Mechanisms
- Liver Disease Diagnosis and Treatment
- Muscle Physiology and Disorders
- Knee injuries and reconstruction techniques
- RNA and protein synthesis mechanisms
- CRISPR and Genetic Engineering
- Renal and related cancers
- Hedgehog Signaling Pathway Studies
- Genetic Neurodegenerative Diseases
- Pancreatic function and diabetes
- RNA Research and Splicing
Regeneron (United States)
2016-2025
deCODE Genetics (Iceland)
2021
University of Iceland
2021
ORCID
2021
PhytoCeutica (United States)
2017
University of California, Los Angeles
2009
Institute for Asthma and Allergy
2004-2006
University Hospitals of Cleveland
2001
Center for Human Genetics
2001
Case Western Reserve University
2001
The DiscovEHR collaboration between the Regeneron Genetics Center and Geisinger Health System couples high-throughput sequencing to an integrated health care system using longitudinal electronic records (EHRs). We sequenced exomes of 50,726 adult participants in study identify ~4.2 million rare single-nucleotide variants insertion/deletion events, which ~176,000 are predicted result a loss gene function. Linking these data EHR-derived clinical phenotypes, we find associations supporting...
The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world
Wnt ligands signal through β-catenin and are critically involved in cell fate determination stem/progenitor self-renewal. Wnts also β-catenin-independent or noncanonical pathways that regulate crucial events during embryonic development. The mechanism of receptor activation how trigger canonical as opposed to signaling have yet be elucidated. We demonstrate here prototype Wnt3a Wnt5a specifically completely unrelated endogenous coreceptors—LRP5/6 Ror1/2, respectively—through a common...
Skeletal muscle atrophy is a severe morbidity caused by variety of conditions, including cachexia, cancer, AIDS, prolonged bedrest, and diabetes. One strategy in the treatment to induce pathways normally leading skeletal hypertrophy. The that are sufficient hypertrophy have been subject some controversy. We describe here use novel method produce transgenic mouse which constitutively active form Akt can be inducibly expressed adult thereby demonstrate acute activation rapid significant vivo,...
Fibrodysplasia ossificans progressiva (FOP) is a rare genetic disorder characterized by episodically exuberant heterotopic ossification (HO), whereby skeletal muscle abnormally converted into misplaced, but histologically normal bone. This HO leads to progressive immobility with catastrophic consequences, including death asphyxiation. FOP results from mutations in the intracellular domain of type I BMP (bone morphogenetic protein) receptor ACVR1; most common mutation alters arginine 206...
In 2007, the International Knockout Mouse Consortium (IKMC) made ambitious promise to generate mutations in virtually every protein-coding gene of mouse genome a concerted worldwide action. Now, 5 years later, IKMC members have developed high-throughput trapping and, particular, gene-targeting pipelines and generated more than 17,400 mutant murine embryonic stem (ES) cell clones 1,700 strains, most them conditional. A common web portal (www.knockoutmouse.org) has been established, allowing...
AKI increases the risk of developing CKD, but mechanisms linking to CKD remain unclear. Because proximal tubule injury is mainstay AKI, we postulated that triggers features CKD. We generated a novel mouse model induce tubule–specific adjustable by inducing expression diphtheria toxin (DT) receptor with variable prevalence in tubules. Administration high-dose DT mice expressing consistently caused severe associated interstitial fibrosis and reduction erythropoietin production. Mild from...
Exposure of articular cartilage to excessive mechanical loading is deeply involved in the pathogenesis osteoarthritis. Here, we identify gremlin-1 as a loading-inducible factor chondrocytes, detected at high levels middle and deep layers after cyclic strain or hydrostatic pressure loading. Gremlin-1 activates nuclear factor-κB signalling, leading subsequent induction catabolic enzymes. In mice intra-articular administration antibody chondrocyte-specific deletion decelerates osteoarthritis...
How genes affect human obesity Obesity is linked to many diseases, including diabetes, cancer, and heart disease. There thus great interest in understanding how predispose individuals to, or protect from, obesity. Akbari et al. sequenced more than 600,000 exomes from the United Kingdom, States, Mexico identified 16 rare coding variants (see Perspective by Yeo O'Rahilly). Some of alleles associated with body mass index (BMI) were brain-expressed G protein–coupled receptors. One variant allele...
Tissue-specific manifestations of the congenital bone-forming syndrome FOP are mediated by multiple tissue-resident stem cell populations.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) enters human host cells via angiotensin-converting enzyme (ACE2) and causes disease 2019 (COVID-19). Here, through a genome-wide association study, we identify variant (rs190509934, minor allele frequency 0.2-2%) that downregulates ACE2 expression by 37% (P = 2.7 × 10-8) reduces the risk of SARS-CoV-2 infection 40% (odds ratio 0.60, P 4.5 10-13), providing genetic evidence levels influence COVID-19 risk. We also replicate...
Exome sequencing in hundreds of thousands persons may enable the identification rare protein-coding genetic variants associated with protection from human diseases like liver cirrhosis, providing a strategy for discovery new therapeutic targets.