A5021340650- Immunodeficiency and Autoimmune Disorders
- Inflammatory Bowel Disease
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Helicobacter pylori-related gastroenterology studies
- Digestive system and related health
- Blood disorders and treatments
- Circular RNAs in diseases
- Signaling Pathways in Disease
- Hippo pathway signaling and YAP/TAZ
- Neuroscience and Neuropharmacology Research
- Mast cells and histamine
- Asthma and respiratory diseases
- MicroRNA in disease regulation
- Reproductive Biology and Fertility
- Cell Adhesion Molecules Research
- Physiological and biochemical adaptations
- Pediatric Hepatobiliary Diseases and Treatments
- Adenosine and Purinergic Signaling
- High Altitude and Hypoxia
- IL-33, ST2, and ILC Pathways
- Neurobiology and Insect Physiology Research
- Inflammasome and immune disorders
- Genetics and Neurodevelopmental Disorders
- Biocrusts and Microbial Ecology
- Per- and polyfluoroalkyl substances research
South China Agricultural University
2021-2024
Sun Yat-sen University
2024
Chinese Academy of Medical Sciences & Peking Union Medical College
2024
University of Toronto
2006-2022
First Affiliated Hospital of Zhengzhou University
2019-2022
Henan Normal University
2022
SickKids Foundation
2011-2021
Hospital for Sick Children
2011-2019
Innsbruck Medical University
2014
Canada Research Chairs
2011
Interleukin-10 (IL-10) signaling genes are attractive inflammatory bowel disease (IBD) candidate as IL-10 restricts intestinal inflammation, polymorphisms have been associated with IBD in genome-wide association studies, and mutations receptor (IL-10R) reported immunodeficient children severe infantile-onset IBD. Our objective was to determine if IL-10R were early-onset (EO-IBD) very-early-onset (VEO-IBD).Candidate-gene analysis of IL10RA IL10RB performed after initial sequencing an...
<h3>Objective</h3> The NOX2 NADPH oxidase complex produces reactive oxygen species and plays a critical role in the killing of microbes by phagocytes. Genetic mutations genes encoding components result both X-linked autosomal recessive forms chronic granulomatous disease (CGD). Patients with CGD often develop intestinal inflammation that is histologically similar to Crohn9s colitis, suggesting common aetiology for diseases. aim this study determine if polymorphisms do not cause are...
Defects in intestinal innate defense systems predispose patients to inflammatory bowel disease (IBD). Reactive oxygen species (ROS) generated by nicotinamide-adenine dinucleotide phosphate (NADPH) oxidases the mucosal barrier maintain gut homeostasis and defend against pathogenic attack. We hypothesized that molecular genetic defects NADPH might be present children with IBD.After targeted exome sequencing of epithelial NOX1 DUOX2 on 209 very early onset (VEOIBD), identified mutations were...
Severe forms of inflammatory bowel disease (IBD) that develop in very young children can be caused by variants a single gene. We performed whole-exome sequence (WES) analysis to identify genetic factors might cause granulomatous colitis and severe perianal disease, with recurrent bacterial viral infections, an infant consanguineous parents.We targeted WES DNA collected from the patient her parents. validated our findings similar 150 patients very-early-onset IBD not associated known analyzed...
OBJECTIVES: TheNOS2gene encodes for the inducible nitric oxide synthase (iNOS), responsible (NO) production, which contributes to antimicrobial and antipathogenic activities. Higher levels of both iNOS NO-induced damage have been observed in inflammatory bowel disease (IBD) patients.NOS2may a role specific subset IBD patients with severe and/or extensive colitis. Therefore, aim this study is examine ofNOS2in such subset, very early onset (VEO-IBD). METHODS: Seventeen tag single nucleotide...
Background & AimsMutations in the tetratricopeptide repeat domain 7A gene (TTC7A) cause intestinal epithelial and immune defects. Patients can become deficient develop apoptotic enterocolitis, multiple atresia, recurrent stenosis. The disease patients with TTC7A deficiency is severe untreatable, it recurs despite resection or allogeneic hematopoietic stem cell transplant. We screened drugs for those that prevent apoptosis of cells tested their effects an animal model disease.MethodsWe...
Severe intestinal diseases observed in very young children are often the result of monogenic defects. We used whole exome sequencing (WES) to examine genetic cause a patient with distinct severe form protein losing enteropathy (PLE) characterized by hypoproteinemia, hypoalbuminemia, and hypertriglyceridemia.WES was performed at Centre for Applied Genomics, Hospital Sick Children, Toronto, Canada. Exome library preparation using Ion Torrent AmpliSeq RDY Kit. Functional studies were carried...
Abstract Chronic hypoxia exposure can cause neurobehavioral dysfunction, but the underlying cellular and molecular mechanisms remain unclear. Here, we found that adult Lymnaea stagnalis snails maintained in low O 2 (∼ 5%) for 4 days developed slowed reactions to light stimuli, reduced righting movement. Semiquantitative immunoblotting analyses showed induced increased expression of heat‐shock protein (HSP)70 ganglion preparations, suppressed presynaptic proteins syntaxin I, synaptic vesicle...
Immune cells exhibit low-level, constitutive signaling at rest (tonic signaling). Such tonic signals are required for fundamental processes, including the survival of B lymphocytes, but when they elevated by genetic or environmental causes, can lead to autoimmunity. Events that control ongoing signal transduction are, therefore, tightly regulated submembrane cytoskeletal polymers like F-actin. The actin-binding proteins underpin process, however, poorly described. By investigating patients...
Significance Polymorphisms in the protein tyrosine phosphatase (PTP)σ ( PTPRS ) gene were previously shown to be associated with inflammatory bowel disease (IBD), and PTPσ knockout mice exhibit an intestinal IBD phenotype, but how is involved unknown. Our studies here show that a leaky epithelium may explain observed phenotype. We further identify junctional ezrin as vivo substrate for specific phosphorylation sites on are targeted by PTPσ, leading removal of from its plasma membrane...
Litter size is a crucial quantitative trait in animals, closely linked to follicular development. Circular RNA (circRNA), type of single-stranded closed-loop endogenous with stable expression, plays pivotal roles various biological processes, yet its function goat development remains unclear. In this study, we collected large (follicle diameter > 3 mm) and small (1 mm < follicle follicles from black goats the Chuanzhong region for circRNA sequencing, aim elucidating functional circRNAs that...
Recent genetic-based studies have implicated a number of immune-related genes in the pathogenesis inflammatory bowel disease (IBD). Our recent genetic showed that RAC2 is associated with human IBD; however, its role unclear. Given Rac2's importance various fundamental immune cell processes, we investigated whether defect Rac2 may impair host responses intestine and promote context an infection-based (Citrobacter rodentium) model colitis. In response to infection, Rac2(-/-) mice i) worsened...
Abstract CARMIL2 is required for CD28-mediated co-stimulation of NF-κB signaling in T cells and its deficiency has been associated with primary immunodeficiency and, recently, very early onset inflammatory bowel disease (IBD). Here we describe the identification novel biallelic variants three patients presenting pediatric-onset IBD one autoimmune polyendocrine syndrome (APS). None manifested overt clinical signs before their diagnosis. The first patient presented IBD. His brother was found...
Abstract Background Perfluorooctanoic acid (PFOA) is widely used in the manufacture of household and industrial products. It has certain toxicity leaves many residues environment. Numerous studies have shown that PFOA exhibits endocrine disrupting properties immunotoxicity induces developmental defects. However, there very little information regarding its on oocytes. Methods We cultured denuded oocytes maturation medium supplemented with 0, 300, or 500 during IVM evaluated from aspects...
Axotomized central neurons of most invertebrate species demonstrate a strong regenerative capacity, and as such may provide valuable molecular insights new tools to promote axonal regeneration in injured mammalian neurons. In this study, we identified novel molluscan protein, caltubin, ubiquitously expressed Lymnaea stagnalis locally synthesized regenerating neurites. Reduction caltubin levels by gene silencing inhibits the outgrowth ability adult decreases local α- β-tubulin Caltubin binds...
Tufting enteropathy (TE) is a classical congenital disorder of the intestinal mucosa causing protracted diarrhea in infancy as result dysfunctional epithelial cell barrier, which mainly caused by mutations EpCAM gene and expression nonfunctional adhesion molecule intestine. We report here novel nonsense mutation patient suspected having TE, resulting complete absence duodenal enterocytes.A presenting with TE was screened for mutations, biopsies were stained using immunohistochemistry...
The reproductive performance of goats significantly influences breeding efficiency and economic returns, with litter size serving as a comprehensive indicator. Despite this, research on the genetic control remains limited. Therefore, we aimed to explore candidate genes affecting fecundity compared whole-genome sequences (WGS) 15 high-litter (HL) low-litter (LL) in Chuanzhong black goats. Then diversity genomic variation patterns were analyzed by phylogenetic, principal component population...