A5101600994- Iron Metabolism and Disorders
- Hemoglobinopathies and Related Disorders
- Trace Elements in Health
- Bone Metabolism and Diseases
- Vitamin K Research Studies
- Endoplasmic Reticulum Stress and Disease
- Erythropoietin and Anemia Treatment
- Parathyroid Disorders and Treatments
- Connective tissue disorders research
- Cell Adhesion Molecules Research
- Blood groups and transfusion
- Folate and B Vitamins Research
- Heavy Metal Exposure and Toxicity
- Protease and Inhibitor Mechanisms
- Anorectal Disease Treatments and Outcomes
- Tryptophan and brain disorders
- Bone and Dental Protein Studies
- Diabetic Foot Ulcer Assessment and Management
- Congenital gastrointestinal and neural anomalies
- Bone health and osteoporosis research
- Gastrointestinal Tumor Research and Treatment
- RNA Research and Splicing
- Stoma care and complications
- Pelvic floor disorders treatments
- Neurofibromatosis and Schwannoma Cases
Centro Hospitalar de Vila Nova de Gaia
2007-2024
Polytechnic Institute of Porto
2017
Universidade do Porto
2006-2015
i3S - Instituto de Investigação e Inovação em Saúde, Universidade do Porto
2015
Instituto de Biologia Molecular e Celular
2005-2009
Institute for Biotechnology and Bioengineering
2009
University of Algarve
2001-2006
Institut de Biologie Moléculaire et Cellulaire
2005
Abstract Hepcidin is the principal iron regulatory hormone, controlling systemic absorption and remobilization of from intracellular stores. Recent in vivo studies have shown that hepcidin down-regulated by erythropoiesis, anemia, hypoxia, which meets need input for erythrocyte production. Erythropoietin (EPO) primary signal triggers erythropoiesis anemic hypoxic conditions. Therefore, a direct involvement EPO regulation can be hypothesized. We report here expression EPO, dose-dependent...
Abstract Background People with Down syndrome (DS) usually display reduced physical fitness (aerobic capacity, muscle strength and abnormal body composition), motor proficiency impairments (balance postural control) functional limitations. Exergames can be an appealing alternative to enhance exercise engagement compliance, whilst improving function. This study aims analyse the effects of a Wii‐based program on fitness, mobility adults DS. Methods Twenty‐seven DS were randomly allocated...
Endoplasmic reticulum (ER) stress induces a complex network of pathways collectively termed the unfolded protein response (UPR). The clarification these has linked UPR to regulation several physiological processes. However, its crosstalk with cellular iron metabolism remains unclear, which prompted us examine whether an affects expression relevant iron-related genes. For that purpose, HepG2 cell line was used as model and activated by dithiothreitol (DTT) homocysteine (Hcys). Here, we report...
Hepcidin regulates intracellular iron levels by interacting with and promoting the degradation of ferroportin, a membrane protein only known cellular exporter. Studies hepcidin expression regulation have focused on its effects in innate immunity as regulator systemic metabolism. In present study we characterized messenger RNA (mRNA) human peripheral blood mononuclear cells (PBMCs) focus lymphocytes (PBLs). We found that (1) all PBMCs analyzed express basal mRNA levels; (2) increases after...
In iron overload disorders a significant fraction of circulates in the plasma as low molecular weight complexes not bound to transferrin, known non-transferrin-bound (NTBI). By catalyzing formation free radicals, NTBI accumulation results oxidative stress and cellular damage causing organ toxicity. is rapidly preferentially cleared from circulation by liver myocardium, main disease targets conditions. We have recently demonstrated that human peripheral blood T lymphocytes take up vitro, with...
Iron is an essential nutrient in several biological processes such as oxygen transport, DNA replication and erythropoiesis. Plasma iron normally circulates bound to transferrin. In overload disorders, however, concentrations exceed transferrin binding capacity appears complexed with low molecular weight molecules, known non-transferrin-bound (NTBI). NTBI responsible for the toxicity associated iron-overload pathologies but mechanisms leading uptake are not fully understood. Here we show...
Abnormally low CD8+ T-lymphocyte numbers is characteristic of some patients with hereditary hemochromatosis (HH), a MHC-linked disorder iron overload. Both environmental and genetic components are known to influence homeostasis but the role HH associated protein HFE still insufficiently understood. Genome-wide expression profiling was performed in peripheral blood T lymphocytes from selected according Hfe-/- mice maintained either under normal or high diet conditions. In addition, apoptosis...
The C282Y mutation of HFE accounts for the majority cases iron overload disease Hereditary Hemochromatosis (HH). conformational changes introduced by this impair association with β(2)-microglobulin (β(2)m) and cell surface expression protein: two major consequences. From a functional perspective, ability to bind transferrin receptors 1 2 is lost in mutant, thus affecting hepcidin regulation. Also due faulty assembly β(2)m, HFE-C282Y molecules remain endoplasmic reticulum (ER) as aggregates...
Hereditary Hemochromatosis (HH) is a recessively inherited disorder of iron overload occurring commonly in subjects homozygous for the C282Y mutation HFE gene localized on chromosome 6p21.3 linkage disequilibrium with human leukocyte antigen (HLA)-A locus. Although its genetic homogeneity, phenotypic expression variable suggesting presence modifying factors. One such factor, SNP microhaplotype named A-A-T, was recently found to be associated more severe phenotype and also low...
Abstract The zebrafish runx2b transcription factor is an ortholog of RUNX2 and highly conserved at the structural level. pebp2αA2 isoform induces osteocalcin gene expression by binding to a specific region promoter seems have been selectively in teleost lineage. Introduction: (also known as CBFA1/Osf2/AML3/PEBP2αA) essential for bone formation mammals, well osteoblast chondrocyte differentiation, through regulation several bone- cartilage-related genes. Since its discovery, Runx2 has subject...
Schwannomas are nerve sheath tumors comprised entirely of Schwann cells, which normally produce the insulating myelin that covers peripheral nerves. They usually homogeneous tumors, frequently located in head, neck, spinal cord, and extremities, but rarely retroperitoneum, representing only 6 % all retroperitoneal [1]. In a recently conducted literature review, we found two published case reports schwannoma hepatoduodenal ligament, both female patients over age 40 [2] [3] [4].
Summary Significant associations between human leucocyte antigen (HLA)‐A and ‐B alleles CD8+ T‐lymphocyte numbers have been reported in the literature both healthy populations HFE ‐haemochromatosis patients. In order to address whether HLA themselves or at linked genes are responsible for these associations, several genetic markers MHC class I region were typed on a population of 147 apparently unrelated subjects phenotypically characterized their CD4+ numbers. By using machine learning...
Introduction In 2016, the European Committee for Hyperbaric Medicine strongly recommended hyperbaric oxygen therapy (HBOT) adjunctive to surgery in post-traumatic crush injuries, initiating as rapidly possible. For last 30 years, HBOT has been used injury, but most cases a resort, after skin flaps necrosis or wound bed infection, diminishing its potential benefits complementary treatment. It is, therefore, essential understand how modulates outcome of and when use it, since this can be...
Cystinuria in Newfoundland dogs is a metabolic disease associated with nonsense mutation the exon 2 of Slc3a1 gene. Similar to type I human cystinuria, heterozygote carriers are not affected by and do reveal differences urinary concentration dibasic amino acids when compared normal dogs. However, through recessive mode inheritance, these able transmit their offspring. Early detection cost-effective reliable methods therefore essential for implementation breeding aimed at eradication disease....