634 results match your criteria: "Biomedical Sciences Research Center "Alexander Fleming"[Affiliation]"
JCI Insight
December 2024
Institute of BioInnovation, Biomedical Sciences Research Centre "Alexander Fleming," Vari-Athens, Greece.
Systemic capillary leak syndrome (SCLS) is a rare life-threatening disorder due to profound vascular leak. The trigger and the cause of the disease are currently unknown and there is no specific treatment. Here, we identified a rare heterozygous splice-site variant in the TLN1 gene in a familial SCLS case, suggestive of autosomal dominant inheritance with incomplete penetrance.
View Article and Find Full Text PDFJ Clin Med
November 2024
Department of Electrophysiology of Vision, 1st University Eye Clinic of Athens, 11527 Athens, Greece.
: Alterations in glycolipid and glycosphingolipid pathways lead to compromised cell membranes and may be involved in cataract formation. However, the exact role of glycolipids in lens opacification is not completely understood. The aim of the current study is to investigate proteome complexity and the role of glycolipid and glycosphingolipid pathways in cataract formation.
View Article and Find Full Text PDFNucleic Acids Res
October 2024
U.S. Department of Energy Joint Genome Institute, One Cyclotron Road, Berkeley, CA 94720, USA.
Regulatory elements (enhancers) are major drivers of gene expression in mammals and harbor many genetic variants associated with human diseases. Here, we present an updated VISTA Enhancer Browser (https://enhancer.lbl.
View Article and Find Full Text PDFFront Oncol
October 2024
Department of Biomedical Sciences and Medicine Evidenze, Lisbon, Portugal.
Introduction: Squamous cell carcinoma of the head and neck (SCCHN) is a multifactorial disease involving genetic and environmental factors representing one of the most frequent cancer-related deaths worldwide. Tobacco and alcohol use account for most SCCHN, while a growing subset of oropharyngeal cancers is causally associated with human papillomavirus (HPV) infection. Despite improvements in overall survival, patients with HPV-negative locally advanced (LA) SCCHN continue to have a poor prognosis.
View Article and Find Full Text PDFNat Cell Biol
December 2024
Department of Molecular Medicine, University of Padova, Padova, Italy.
Tissue-scale architecture and mechanical properties instruct cell behaviour under physiological and diseased conditions, but our understanding of the underlying mechanisms remains fragmentary. Here we show that extracellular matrix stiffness, spatial confinements and applied forces, including stretching of mouse skin, regulate mitochondrial dynamics. Actomyosin tension promotes the phosphorylation of mitochondrial elongation factor 1 (MIEF1), limiting the recruitment of dynamin-related protein 1 (DRP1) at mitochondria, as well as peri-mitochondrial F-actin formation and mitochondrial fission.
View Article and Find Full Text PDFEur Urol
October 2024
Onkozentrum Zurich, University of Zurich and Tumorzentrum Hirslanden Zurich, Zurich, Switzerland.
Target Oncol
November 2024
Medical Oncology Unit, Macerata Hospital, Macerata, Italy.
Int J Mol Sci
September 2024
Diabetes Center, Division of Endocrinology, Metabolism and Diabetes, First Department of Pediatrics, National and Kapodistrian University of Athens Medical School, "Aghia Sophia" Children's Hospital, 11527 Athens, Greece.
The aim of the current study was to investigate the tear proteome in children and adolescents with type 1 diabetes (T1D) compared to healthy controls, and to identify differences in the tear proteome of children with T1D depending on different characteristics of the disease. Fifty-six children with T1D at least one year after diagnosis, aged 6-17 years old, and fifty-six healthy age- and sex-matched controls were enrolled in this cross-sectional study. The proteomic analysis was based on liquid chromatography tandem mass spectrometry (LC-MS/MS) enabling the identification and quantification of the protein content via Data-Independent Acquisition by Neural Networks (DIA-NN).
View Article and Find Full Text PDFEur J Med Chem
December 2024
University of Ioannina, Department of Chemistry, Section of Organic Chemistry and Biochemistry, Ioannina, GR-45110, Greece. Electronic address:
The global health crisis caused by Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) urges the development of new antiviral agents with broad coronavirus coverage. Due to its key role in viral evasion from the host innate immune response, the coronavirus Nsp15 uridine-specific endoribonuclease (EndoU) is of high interest as a drug target. Considering that the isatin scaffold is well-known for its versatile pharmacological properties, we synthesized and evaluated a series of compounds carrying an isatin core.
View Article and Find Full Text PDFEnviron Sci Technol
October 2024
Institute of Chemical Biology, National Hellenic Research Foundation, Athens 11635, Greece.
Taking immediate action to combat the urgent threat of CO-driven global warming is crucial for ensuring a habitable planet. Decarbonizing the industrial sector requires implementing sustainable carbon-capture technologies, such as biomimetic hot potassium carbonate capture (BioHPC). BioHPC is superior to traditional amine-based strategies due to its eco-friendly nature.
View Article and Find Full Text PDFComput Struct Biotechnol J
December 2024
Division of Basic Sciences, University of Crete Medical School, Heraklion 71110, Greece.
The process of navigating through the landscape of biomedical literature and performing searches or combining them with bioinformatics analyses can be daunting, considering the exponential growth of scientific corpora and the plethora of tools designed to mine PubMed(®) and related repositories. Herein, we present BioTextQuest v2.0, a tool for biomedical literature mining.
View Article and Find Full Text PDFJ Cell Physiol
December 2024
Institute for Bioinnovation, Biomedical Sciences Research Center "Alexander Fleming", Vari, Greece.
Bone marrow adipose tissue (BMAT) accrues in osteoporosis, whereas its contribution to the progression of bone resorption remains insufficiently understood. To understand the mechanisms that promote BMAT expansion in osteoporosis, in the present study, we performed extensive analysis of the spatiotemporal pattern of BMAT expansion during the progression of bone resorption in TgRANKL transgenic mouse models of osteoporosis expressing human RANKL (receptor activator of nuclear factor-κB ligand). Our results showed that TgRANKL mice of both sexes developed dramatically increased BMAT expansion compared to wild-type (WT) littermates, that was analogous to the levels of RANKL expression and the severity of the bone loss phenotype.
View Article and Find Full Text PDFNutrients
August 2024
Department of Nutrition and Dietetics, School of Health Science and Education, Harokopio University of Athens, 17671 Athens, Greece.
Obesity is a critical public health issue, necessitating effective weight loss interventions. While various dietary regimens have been explored, individual responses to interventions often vary. This study involved a 3-month dietary intervention aiming at assessing the role of macronutrient composition and the potential role of genetic predisposition in weight loss among Greek adults.
View Article and Find Full Text PDFElife
September 2024
Institute for Bioinnovation, Biomedical Sciences Research Centre (BSRC) "Alexander Fleming", Vari, Greece.
miRNAs constitute fine-tuners of gene expression and are implicated in a variety of diseases spanning from inflammation to cancer. miRNA expression is deregulated in rheumatoid arthritis (RA); however, their specific role in key arthritogenic cells such as the synovial fibroblast (SF) remains elusive. Previous studies have shown that expression is upregulated in RA SFs.
View Article and Find Full Text PDFPLoS Comput Biol
August 2024
Institute for Liver and Digestive Health, University College London, London, United Kingdom.
Background: The grim (<10% 5-year) survival rates for pancreatic ductal adenocarcinoma (PDAC) are attributed to its complex intrinsic biology and most often late-stage detection. The overlap of symptoms with benign gastrointestinal conditions in early stage further complicates timely detection. The suboptimal diagnostic performance of carbohydrate antigen (CA) 19-9 and elevation in benign hyperbilirubinaemia undermine its reliability, leaving a notable absence of accurate diagnostic biomarkers.
View Article and Find Full Text PDFJ Am Med Inform Assoc
November 2024
Institute of Informatics and Telecommunications, National Center for Scientific Research "Demokritos", Athens 15341, Greece.
Cell Death Dis
August 2024
Institute for Fundamental Biomedical Research, Biomedical Sciences Research Center (BSRC) "Alexander Fleming", Vari, Greece.
TNF is a potent cytokine known for its involvement in physiology and pathology. In Rheumatoid Arthritis (RA), persistent TNF signals cause aberrant activation of synovial fibroblasts (SFs), the resident cells crucially involved in the inflammatory and destructive responses of the affected synovial membrane. However, the molecular switches that control the pathogenic activation of SFs remain poorly defined.
View Article and Find Full Text PDFRheumatology (Oxford)
November 2024
First Department of Propaedeutic and Internal Medicine, Joint Academic Rheumatology Program, 'Laiko' General Hospital, School of Medicine, National and Kapodistrian University of Athens, Athens, Greece.
Objective: Pathogenesis of antiphospholipid syndrome (APS) remains poorly elucidated. We aimed to evaluate for the first time kidney transcriptome profiles in primary APS vs systemic lupus erythematosus (SLE) and control subjects.
Methods: We performed RNA sequencing on archival formalin-fixed paraffin-embedded kidney biopsies from APS (n = 4), SLE (n = 5) and control (n = 3) individuals, differential gene expression analysis (DGEA) and enrichment analysis using gene ontology (GO) and CORUM, KEGG and Reactome pathway databases.
Metabolism
October 2024
Department of Internal Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA.
Background: Leptin is known for its metabolic, immunomodulatory and neuroendocrine properties, but the full spectrum of molecules downstream of leptin and relevant underlying mechanisms remain to be fully clarified. Our objective was to identify proteins and pathways influenced by leptin through untargeted proteomics in two clinical trials involving leptin administration in lean individuals.
Methods: We performed untargeted liquid chromatography-tandem mass spectrometry serum proteomics across two studies a) Short-term randomized controlled crossover study of lean male and female humans undergoing a 72-h fast with concurrent administration of either placebo or high-dose leptin; b) Long-term (36-week) randomized controlled trial of leptin replacement therapy in human females with acquired relative energy deficiency and hypoleptinemia.
Mol Ther Nucleic Acids
September 2024
Cardiovascular Research Unit, Department of Precision Health, Luxembourg Institute of Health, 1445 Strassen, Luxembourg.
Mitochondria are the energy-producing organelles of mammalian cells with critical involvement in metabolism and signaling. Studying their regulation in pathological conditions may lead to the discovery of novel drugs to treat, for instance, cardiovascular or neurological diseases, which affect high-energy-consuming cells such as cardiomyocytes, hepatocytes, or neurons. Mitochondria possess both protein-coding and noncoding RNAs, such as microRNAs, long noncoding RNAs, circular RNAs, and piwi-interacting RNAs, encoded by the mitochondria or the nuclear genome.
View Article and Find Full Text PDFInflamm Regen
July 2024
Department of Immunology, Graduate School of Medicine and Faculty of Medicine, The University of Tokyo, Tokyo, Japan.
Background: Recent single-cell RNA sequencing (scRNA-seq) analysis revealed the functional heterogeneity and pathogenic cell subsets in immune cells, synovial fibroblasts and bone cells in rheumatoid arthritis (RA). JAK inhibitors which ameliorate joint inflammation and bone destruction in RA, suppress the activation of various types of cells in vitro. However, the key cellular and molecular mechanisms underlying the potent clinical effects of JAK inhibitors on RA remain to be determined.
View Article and Find Full Text PDFFront Pharmacol
July 2024
Bioactive Molecules Research Center, School of Life and Health Sciences, University of Nicosia, Nicosia, Cyprus.
BioTech (Basel)
July 2024
Research Group of Clinical Pharmacology and Pharmacogenomics Faculty of Pharmacy, School oh Health Sciences, National and Kapodistrian University of Athens, 15771 Athens, Greece.
Predictive tools provide a unique opportunity to explain the observed differences in outcome between patients of the COVID-19 pandemic. The aim of this study was to associate individual demographic and clinical characteristics with disease severity in COVID-19 patients and to highlight the importance of machine learning (ML) in disease prognosis. The study enrolled 344 unvaccinated patients with confirmed SARS-CoV-2 infection.
View Article and Find Full Text PDFAdv Exp Med Biol
July 2024
Institute for Fundamental Biomedical Research, Biomedical Sciences Research Center Alexander Fleming, Vari, Greece.
T lymphocytes consist of several subtypes with distinct functions that help to coordinate an immune response. They are generated within the thymus through a sequential developmental pathway that produces subsets with diverse antigen specificities and functions. Naïve T cells populate peripheral lymphoid organs and are activated upon foreign antigen encounter.
View Article and Find Full Text PDFNat Commun
July 2024
Institute of Molecular Biology & Biotechnology, Foundation for Research and Technology Hellas, Heraklion, Crete, Greece.
Setd8 regulates transcription elongation, mitotic DNA condensation, DNA damage response and replication licensing. Here we show that, in mitogen-stimulated liver-specific Setd8-KO mice, most of the hepatocytes are eliminated by necrosis but a significant number of them survive via entering a stage exhibiting several senescence-related features. Setd8-deficient hepatocytes had enlarged nuclei, chromosomal hyperploidy and nuclear engulfments progressing to the formation of intranuclear vesicles surrounded by nuclear lamina.
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