A5033654867- Inflammatory Bowel Disease
- Helicobacter pylori-related gastroenterology studies
- Cardiac electrophysiology and arrhythmias
- Ion channel regulation and function
- Immune Response and Inflammation
- Digestive system and related health
- Metabolism and Genetic Disorders
- Lipid metabolism and disorders
- Peroxisome Proliferator-Activated Receptors
- Hippo pathway signaling and YAP/TAZ
- Gut microbiota and health
- Cardiomyopathy and Myosin Studies
- Cardiac Valve Diseases and Treatments
- Sphingolipid Metabolism and Signaling
- Galectins and Cancer Biology
- Autoimmune and Inflammatory Disorders Research
- Alzheimer's disease research and treatments
- Asthma and respiratory diseases
- Protein Tyrosine Phosphatases
- Whipple's Disease and Interleukins
- Retinoids in leukemia and cellular processes
- Inflammasome and immune disorders
- Sympathectomy and Hyperhidrosis Treatments
- Mitochondrial Function and Pathology
- Pancreatic and Hepatic Oncology Research
Montreal Heart Institute
2011-2022
Université de Montréal
2017-2022
Université du Québec à Montréal
2016
Genome-wide association studies and follow-up meta-analyses in Crohn's disease (CD) ulcerative colitis (UC) have recently identified 163 disease-associated loci that meet genome-wide significance for these two inflammatory bowel diseases (IBD). These discoveries already had a tremendous impact on our understanding of the genetic architecture directed functional revealed some biological functions are important to IBD (e.g. autophagy). Nonetheless, can only explain small proportion variance...
Abstract Genetic causes of many familial arrhythmia syndromes remain elusive. In this study, whole‐exome sequencing ( WES ) was carried out on patients from three different families that presented with life‐threatening arrhythmias and high risk sudden cardiac death SCD ). Two French Canadian probands identical homozygous rare variant in TECRL gene (p.Arg196Gln), which encodes the trans ‐2,3‐enoyl‐CoA reductase‐like protein. Both had arrest, stress‐induced atrial ventricular tachycardia, QT...
The Lrrk2 gene modulates the course of infections in mice a sex-dependent manner.
Abstract Background Genetic studies have been tremendously successful in identifying genomic regions associated with a wide variety of phenotypes, although the success these causal genes, their variants, and functional impacts has more limited. Methods We identified 145 genes from IBD-associated loci having endogenous expression within intestinal epithelial cell compartment. evaluated impact lentiviral transfer open reading frame (ORF) IBD into HT-29 line via transcriptomic analyses. By...
Crohn's disease (CD) and ulcerative colitis (UC) are inflammatory bowel diseases (IBDs) presumably caused by dysregulated immune responses to the gut microbiota. Genetic association studies have implicated dozens of chromosomal regions or loci in IBD susceptibility. The next challenge is explain individual role each these modest effect state. We previously identified MAST3 as an susceptibility gene through genetic fine-mapping 19p linkage region. Testing a reporter assay provided preliminary...
The long QT syndrome (LQTS) is an inherited cardiac arrhythmia characterized by a prolonged heart rate–corrected interval (QTc) on the surface electrocardiogram (ECG). It associated with syncope and sudden death from torsades de pointes, estimated to affect 1 per 2000 individuals.1 Fifteen genes have been implicated in familial LQTS, most of which encode ion channels or channel-interacting proteins.2 To date, mutations KCNQ1, KCNH2, SCN5A (causing LQTS 1, 2, 3) found about 70% cases, while...
ABSTRACT Background Genetic studies have been tremendously successful in identifying genomic regions associated with a wide variety of phenotypes, although the success these causal genes, their variants, and functional impacts more limited. Methods We identified 145 genes from IBD-associated loci having endogenous expression within intestinal epithelial cell compartment. evaluated impact lentiviral transfer open reading frame (ORF) IBD into HT-29 line via transcriptomic analyses. Comparing...
Long-QT syndrome is a potentially fatal condition for which 30% of patients are without genetically confirmed diagnosis. Rapid identification causal mutations thus priority to avoid at-risk situations that can lead cardiac events. Massively parallel sequencing technologies useful the sequence variants; however, electrophysiological testing newly identified variants crucial demonstrate causality. could, therefore, benefit from having standardized platform functional characterization candidate...
Impairment in lymphatic transport is associated with the onset and progression of atherosclerosis animal models. The downregulation low-density-lipoprotein receptor (LDLR) expression, rather than increased circulating cholesterol level
Aortic valve (AoV) abnormalities during embryogenesis are a major risk for the development of aortic stenosis (AVS) and cardiac events later in life. Here, we identify an unexpected role Angiopoietin-like 2 (ANGPTL2), pro-inflammatory protein secreted by senescent cells, valvulogenesis. At late embryonic stage, mice knocked-down Angptl2 (Angptl2-KD) exhibit premature thickening AoV leaflets associated with dysregulation fine balance between cell apoptosis, senescence proliferation remodeling...
Introduction: Angiopoietin-like 2 (Angptl2) is a pro-inflammatory anti-apoptotic protein, secreted by senescent cells. Angptl2 also contributes to maintain tissue homeostasis, and we previously reported that adult Angptl2-knockdown (KD) mice exhibit spontaneous Aortic Valve (AoV) stenosis with thickened leaflets compared wild-type (WT) littermates. It unknown whether how AoV development. Hypothesis: expressed in the at embryonic stage essential for its development, contributing programmed...
Abstract Inflammatory bowel disease (IBD) are chronic inflammatory diseases including Crohn’s (CD) and ulcerative colitis (UC). More than 200 genomic regions have been identified validated (association values〈 5x10-8) to be associated with CD, UC or IBD. These may contain multiple genes the current challenge lies in identifying causal gene each of these. To address this problem, we performed a functional screen 145 from IBD loci, relevant intestinal epithelial cell model (HT-29). The results...