A5053607123- RNA and protein synthesis mechanisms
- RNA Research and Splicing
- Acute Myeloid Leukemia Research
- RNA modifications and cancer
- Neurobiology and Insect Physiology Research
- Lipoproteins and Cardiovascular Health
- Myeloproliferative Neoplasms: Diagnosis and Treatment
- Chronic Myeloid Leukemia Treatments
- Chronic Lymphocytic Leukemia Research
- Lymphoma Diagnosis and Treatment
- Pregnancy-related medical research
- Acute Lymphoblastic Leukemia research
- Viral Infections and Immunology Research
- Eosinophilic Disorders and Syndromes
- Cancer-related molecular mechanisms research
- Blood disorders and treatments
- Retinoids in leukemia and cellular processes
- Polyamine Metabolism and Applications
- Animal Behavior and Reproduction
- Molecular Biology Techniques and Applications
- Silk-based biomaterials and applications
- Galectins and Cancer Biology
- Genomics and Rare Diseases
- Immunodeficiency and Autoimmune Disorders
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
University of Lisbon
2017-2025
Universidade Nova de Lisboa
2020-2025
Center for Health and Gender Equity
2025
National Institute of Health Dr. Ricardo Jorge
2016-2024
Spanish National Cancer Research Centre
2012-2015
Centro de Investigación del Cáncer
2013-2014
Centre for Biomedical Network Research on Rare Diseases
2011
Cancer Genetics (United States)
2011
Instituto Nacional do Câncer
2008-2010
Institut National de la Recherche Scientifique
1993
Chronic lymphocytic leukemia (CLL) is a heterogeneous disease without well-defined genetic alteration responsible for the onset of disease. Several lines evidence coincide in identifying stimulatory and growth signals delivered by B-cell receptor (BCR), co-receptors together with NFkB pathway, as being driving force survival CLL. However, molecular mechanism this activation has not been identified. Based on hypothesis that BCR may depend somatic mutations related pathways we have performed...
ASXL1 , TP53 and IKZF3 mutations are present in the chronic phase blast crisis of myeloid leukemia
At the end of their growth phase, Drosophila larvae remodel bodies, glue themselves to a substrate, and harden cuticle in preparation for metamorphosis. This process—termed pupariation—is triggered by surge hormone ecdysone. Substrate attachment is achieved pupariation subprogram called expulsion spreading behavior (GSB). An epidermis-to-CNS Dilp8-Lgr3 relaxin signaling event that occurs downstream ecdysone critical unlocking progression motor program toward GSB, but factors circuits acting...
Ovulation allows mature oocytes to exit the ovary for potential fertilization. In Drosophila , ovulation can be induced by mating or occur spontaneously in lower amounts virgin females. Virgin rates show high populational variation, with short oocyte retention times being ancestral, and long selected colder climates. The molecular mechanisms controlling are poorly understood. Here, we that reduced activity of insulin-like peptide 8 (Dilp8), a relaxin-like secreted from terminal follicle...
The mechanistic/mammalian target of rapamycin (mTOR) is a conserved serine/threonine kinase that integrates cellular signals from the nutrient and energy status to act, namely, on protein synthesis machinery. While major advances have emerged regarding regulators effects mTOR signaling pathway, little known about regulation gene expression. Here, we show human transcript can be translated in cap-independent manner, its 5′ untranslated region (UTR) highly folded RNA scaffold capable binding...
Abstract Innate behaviors consist of a succession genetically-hardwired motor and physiological subprograms that can be coupled to drastic morphogenetic changes. How these integrative responses are orchestrated is not completely understood. Here, we provide insight into mechanisms by studying pupariation, multi-step innate behavior Drosophila larvae critical for survival during metamorphosis. We find the steroid-hormone ecdysone triggers parallel pupariation neuromotor subprograms, which...
Mutations in CSF3R have been recently defined as the common genetic event patients with myeloid neoplasms, including rare entity known chronic neutrophilic leukemia (CNL),1, 2, 3 becoming a potentially useful biomarker for diagnosing and therapy target.4 encodes transmembrane receptor granulocyte colony-stimulating factor (G-CSF; CSF3), which provides proliferative survival signal granulocytes also contributes to their differentiation function.5 Although there are several studies on massive...
Infant leukemia (IL) is characterised by the presence of MLL rearrangements and a poor outcome. FLT3 gene consistently highly expressed in MLL+ patients. To correlate clinical aspects IL with sequence alterations, we have analysed 159 children included Brazilian Collaborative Study Group Acute Leukemia. FLT3-D835 mutations FLT3-ITD were detected PCR-RFLP assay standard PCR amplification, respectively. Mean age at diagnosis was 11.3 months. Overall, 7.5% (ITDs n = 6 D835 6) patients contained...
The nonsense-mediated decay (NMD) pathway selectively degrades mRNAs carrying a premature translation-termination codon but also regulates the abundance of large number physiological that encode full-length proteins. In human cells, NMD-targeted are degraded by endonucleolytic cleavage and exonucleolytic degradation from both 5-' 3′-ends. This is done process not yet completely understood recruits decapping 5′-to-3′ exonuclease activities, as well deadenylating 3′-to-5′ exosome activities....
Eukaryotic cells possess surveillance mechanisms that detect and degrade defective transcripts. Aberrant transcripts include mRNAs with a premature termination codon (PTC), targeted by the nonsense-mediated decay (NMD) pathway, lacking codon, nonstop (NSD) pathway. The eukaryotic exosome, ribonucleolytic complex, plays crucial role in mRNA processing turnover through its catalytic subunits PM/Scl100 (Rrp6 yeast), DIS3 (Rrp44 DIS3L1. Additionally, have other ribonucleases, such as SMG6 XRN1,...
The disruption of RUNX1 function is one the main mechanisms disease observed in hematopoietic malignancies and description novel genetic events that lead to a loss has been accelerated with development genomic technologies. Here we describe molecular characterization new t(4;21)(q21;q22) de novo myelodysplastic syndrome resulted deletion gene. We demonstrated by quantitative real-time RT-PCR an almost complete depletion expression gene our t(4;21) case compared CD34+ cells was independent...
Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism, characterized by increased levels total and LDL plasma cholesterol, which leads to premature atherosclerosis coronary heart disease. FH phenotype has considerable heterogeneity phenotypic variability, depending on receptor activity lifestyle. To improve diagnosis patient management, here, we two single nucleotide missense substitutions at Methionine 1 human LDLR gene (c.1A>T/p.(Met1Leu)...
Although acute leukaemia is rare in pregnancy its importance lies life-threatening potential, both to the child and mother. The possibility of vertical transmission leukemic cells increases attention devoted these patients their offspring. Three cases pregnant young women (15-17 years age) with AML are presented. This series first report where gene abnormalities such as ITD mutations FLT3 AML1/ETO fusion genes were screened babies, so far. Unfortunately, very poor outcomes have been...
Key Clinical Message Our results prove that c.1871‐14T>G is causative of type I PS deficiency, highlighting the importance performing mRNA ‐based studies in order to evaluate variants pathogenicity. We evidence increased risk venous thromboembolism associated with this cryptic splice‐site variant if present patients deficiency.
ABSTRACT At the end of their growth phase, Drosophila larvae remodel bodies, firmly glue themselves to a substrate, and harden cuticle in preparation for metamorphosis. This process is termed pupariation it triggered by surge steroid hormone ecdysone. Substrate attachment achieved recently-described subprogram called expulsion spreading behavior (GSB). An epidermis-to-CNS Dilp8-Lgr3 relaxin signaling event that occurs downstream ecdysone after initiation critical unlocking progression motor...