A5019953182- Immunodeficiency and Autoimmune Disorders
- Immune Response and Inflammation
- Bone Metabolism and Diseases
- Immune Cell Function and Interaction
- Immune cells in cancer
- Mast cells and histamine
- Pesticide Exposure and Toxicity
- Anesthesia and Neurotoxicity Research
- Asthma and respiratory diseases
- T-cell and B-cell Immunology
- Cell Adhesion Molecules Research
- Immunotherapy and Immune Responses
- Glycosylation and Glycoproteins Research
- Monoclonal and Polyclonal Antibodies Research
- vaccines and immunoinformatics approaches
- Inflammation biomarkers and pathways
- Bone health and treatments
- Genetics, Aging, and Longevity in Model Organisms
- Biliary and Gastrointestinal Fistulas
- Epigenetics and DNA Methylation
- Barrier Structure and Function Studies
- Bacillus and Francisella bacterial research
- Toxin Mechanisms and Immunotoxins
- Inflammatory Bowel Disease
- Hydrogels: synthesis, properties, applications
University of Oxford
2017-2025
Fondazione Santa Lucia
2024
PowerCell (Sweden)
2024
John Radcliffe Hospital
2017-2022
Oxford BioMedica (United Kingdom)
2019
Università di Camerino
2010-2016
Multiple cytokines, including interleukin 6 (IL-6), IL-11, IL-27, oncostatin M (OSM), and leukemia inhibitory factor (LIF), signal via the common GP130 cytokine receptor subunit. In this study, we describe a patient with homozygous mutation of IL6ST (encoding p.N404Y) who presented recurrent infections, eczema, bronchiectasis, high IgE, eosinophilia, defective B cell memory, an impaired acute-phase response, as well skeletal abnormalities craniosynostosis. The p.N404Y missense substitution...
Genetic defects that affect intestinal epithelial barrier function can present with very early-onset inflammatory bowel disease (VEOIBD). Using whole-genome sequencing, a novel hemizygous defect in NOX1 encoding NAPDH oxidase 1 was identified patient ulcerative colitis-like VEOIBD. Exome screening of 1,878 pediatric patients further seven male (IBD) rare mutations. Loss-of-function validated p.N122H and p.T497A, to lesser degree p.Y470H, p.R287Q, p.I67M, p.Q293R as well the previously...
Loss of IL-10 signaling in macrophages (Mφs) leads to inflammatory bowel disease (IBD). Induced pluripotent stem cells (iPSCs) were generated from an infantile-onset IBD patient lacking a functional IL10RB gene. Mφs differentiated IL-10RB−/− iPSCs lacked IL-10RB mRNA expression, unable phosphorylate STAT3, and failed reduce LPS induced cytokines the presence exogenous IL-10. exhibited striking defect their ability kill Salmonella enterica serovar Typhimurium, which was rescuable after...
Abstract Background Biallelic anterior gradient 2 (AGR2) loss-of-function variants cause infantile-onset inflammatory bowel disease, alongside histological changes of the gastrointestinal epithelium. The underlying mechanisms on epithelial development and function are not understood. Methods We conducted single-cell RNA-sequencing biopsies organoids from AGR2-deficient patients. Organoids were used for functional investigation epithelium mucus layer by flow cytometry, confocal microscopy,...
// Maria Giovanna Sabbieti 1, * , Dimitrios Agas Melania Capitani 1 Luigi Marchetti Antonio Concetti Cecilia Vullo Giuseppe Catone Vladimir Gabai 2 Victor Shifrin Michael Y Sherman 3 Alexander Shneider Franco M Venanzi School of Biosciences and Veterinary Medicine, University Camerino, Camerino (Italy) CureLab Oncology Inc, 43 Rubury Hillway Needham MA (USA) Dept. Biochem, Boston These authors have contributed equally to this work Correspondence to: Shneider, e-mail: ashneider@curelab.com...
Toll-like receptors (TLRs) mediate functions for host defense and inflammatory responses. TLR4 recognizes LPS, a component of gram-negative bacteria as well host-derived endogenous ligands such S100A8 S100A9 proteins.We sought to report phenotype cellular function individuals with complete deficiency.We performed genome sequencing investigated exome databases. Cellular responses were studied on primary monocytes, macrophages, neutrophils, cell lines using flow cytometry, reporter, cytokine...
The present study reports on the biocompatibility in vivo after intramuscular and subcutaneous administration Balb/c mice of vinyl sulphone bearing p(HPMAm-lac1-2)-PEG-p(HPMAm-lac1-2)/thiolated hyaluronic acid hydrogels, designed as novel injectable biomaterials for potential application fields tissue engineering regenerative medicine. Ultrasonography, used a method to hydrogel gelation residence time vivo, showed that, upon injection, biomaterial efficiently formed by simultaneous thermal...
Hermansky-Pudlak syndrome (HPS) types 1 and 4 are caused by defective vesicle trafficking. The mechanism for Crohn's disease-like inflammation, lung fibrosis, macrophage lipid accumulation in these patients remains enigmatic. aim of this study is to understand the cellular basis inflammation HPS-1. We performed mass cytometry, proteomic transcriptomic analyses investigate peripheral blood cells serum HPS-1 patients. Using spatial transcriptomics, granuloma-associated signatures tissue an...
IFN-γ is a pleotropic cytokine produced in the bone microenvironment. Although known to play critical role on remodeling, its function not fully elucidated. Consistently, outcomes effects of recombinant protein loss are contradictory among reports. In our work we explored, for first time, encoding plasmid (pIFN-γ) mouse model osteopenia induced by ovariectomy and sham-operated counterpart estimate skeletal homeostasis. Ovariectomy dramatic decrease mineral density (BMD). pINF-γ injected mice...
Abstract Balancing natural selection is a process by which genetic variants arise in populations that are beneficial to heterozygous carriers, but pathogenic when homozygous. We systematically investigated the prevalence, structural, and functional consequences of IL10RA associated with monogenic inflammatory bowel disease. identify 36 non-synonymous non-sense gene. Since majority these have not been functionally characterized, we performed systematic screening their impact on STAT3...
Background: Plasmids coding protein aggregation polypeptides from different sources have been proposed as genetic adjuvants for DNA vaccines. We reported that a plasmid (pATRex), encompassing the sequence von Willebrand A (vWA/A) domain of Anthrax Toxin Receptor-1 (ANTXR-1, alias TEM8, Tumor Endothelial Marker 8), acts strong immune adjuvant by inducing formation insoluble intracellular aggregates and subsequent cell death. Objective: In present study we addressed question whether there is...
<title>Abstract</title> Rejuvenation restores cellular function lost with age, but it is not known to confer properties the cell lacked in its younger past. We found that Disruptors of sestrin-MAPK interactions (DOS) reprogramed senescent T cells into new stem like clones different receptors (TCRs). DOS targeted complexes (sMAC) ubiquitin-dependent proteasomal degradation, resulting long-term sestrin transcriptional inhibition, increased fitness, and generation long-lived memory clones....
Summary Whereas treatments that reactivate exhausted T cells are available, strategies to rejuvenate terminally differentiated senescent lymphocytes yet be developed. Senescent cells, with short telomeres and inactive telomerase, different from may form due defective telomere transfer reactions upon contact antigen presenting (APCs). characterized by presence of sestrin-MAPK kinase activation complexes (sMACs), large immune-inhibitory protein assemblies sestrins bound a stress/energy sensing...