A5047476224- Zebrafish Biomedical Research Applications
- Epigenetics and DNA Methylation
- Acute Myeloid Leukemia Research
- Neonatal Respiratory Health Research
- Immune Cell Function and Interaction
- Pluripotent Stem Cells Research
- Advanced biosensing and bioanalysis techniques
- Hemoglobinopathies and Related Disorders
- Retinal Development and Disorders
- CRISPR and Genetic Engineering
- Single-cell and spatial transcriptomics
- Genomics and Rare Diseases
- Axon Guidance and Neuronal Signaling
- Neuroscience and Neuropharmacology Research
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Telomeres, Telomerase, and Senescence
- Prenatal Screening and Diagnostics
- Immunodeficiency and Autoimmune Disorders
- T-cell and B-cell Immunology
- Hematopoietic Stem Cell Transplantation
- Lung Cancer Research Studies
- Wnt/β-catenin signaling in development and cancer
- Hedgehog Signaling Pathway Studies
- Cancer, Hypoxia, and Metabolism
- Myeloproliferative Neoplasms: Diagnosis and Treatment
Consejo Superior de Investigaciones Científicas
2019
Centre for Biomedical Network Research on Rare Diseases
2018-2019
Universidad Autónoma de Madrid
2018-2019
Instituto de Salud Carlos III
2019
Centro de Biología Molecular Severo Ochoa
2017-2019
University of Edinburgh
2018
Stem Cell Institute
2016
Erasmus University Rotterdam
2007-2015
Erasmus MC
2007-2015
Erasmus MC Cancer Institute
2009-2013
Knowledge of the key transcription factors that drive hematopoietic stem cell (HSC) generation is particular importance for current regenerative approaches and reprogramming strategies. Whereas GATA2 has long been implicated as a factor its dysregulated expression associated with human immunodeficiency syndromes vascular integrity, it yet unknown how functions in HSCs. HSCs are generated from endothelial cells major embryonic vasculature (aorta, vitelline, umbilical arteries) found...
HbVar (http://globin.bx.psu.edu/hbvar) is a locus-specific database (LSDB) developed in 2001 by multi-center academic effort to provide timely information on the genomic sequence changes leading hemoglobin variants and all types of thalassemia hemoglobinopathies. Database records include extensive phenotypic descriptions, biochemical hematological effects, associated pathology, ethnic occurrence, accompanied mutation frequencies references. In addition regular updates entries, we report...
Hypoxia affects many physiologic processes during early stages of mammalian ontogeny, particularly placental and vascular development. In the adult, hypoxic bone marrow microenvironment plays a role in regulating hematopoietic stem cell (HSC) function. HSCs are generated from major vasculature embryo, but whether response generation these is as yet unknown. Here we examined Inducible Factor1-alpha (HIF1α), key modulator to hypoxia, essential for HSC We found cells embryonic tissues that...
Cell fate is established through coordinated gene expression programs in individual cells. Regulatory networks that include the Gata2 transcription factor play central roles hematopoietic establishment. Although essential to embryonic development and function of stem cells form adult hierarchy, little known about vivo dynamics single Here, we examine aortic as they establish Gata2Venus mouse embryos. Time-lapse imaging reveals rapid pulsatile level changes reporter undergoing...
Frequency of INherited Disorders database (FINDbase) (Author Webpage) is a relational database, derived from the ETHNOS software, recording frequencies causative mutations leading to inherited disorders worldwide. Database records include population and ethnic group, disorder name related gene, accompanied by links any corresponding locus-specific mutation respective Online Mendelian Inheritance in Man entries together with its frequency that population. The initial information published...
Visual system development involves the formation of neuronal projections connecting retina to thalamic dorso-lateral geniculate nucleus (dLGN) and thalamus visual cerebral cortex. Patients carrying mutations in SOX2 transcription factor gene present severe defects, thought be linked functions retina. We show that Sox2 is strongly expressed mouse postmitotic projection neurons. Cre-mediated deletion these neurons causes reduction dLGN, abnormal distribution retino-thalamic thalamo-cortical...
Article18 July 2019Open Access Transparent process Mouse Nr2f1 haploinsufficiency unveils new pathological mechanisms of a human optic atrophy syndrome Michele Bertacchi Corresponding Author [email protected] orcid.org/0000-0002-4402-4974 CNRS, Inserm, iBV, Université Côte d'Azur, Nice, France Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy Search for more papers by this author Agnès Gruart Division Neurosciences, Pablo de Olavide University, Seville, Spain Polynikis Kaimakis...
Abstract We report a novel set of genetic markers in the DNaseI hypersensitive sites comprising human β‐globin locus chromatin hub (CH), namely HS‐111 and 3′HS1. The (−21 G>A) 3′HS1 (+179 C>T) transitions form CH haplotypes, which occur at different frequencies β‐thalassemia intermedia major patients normal (nonthalassemic) individuals. also show that variation results GATA‐1 binding site correlates with increased fetal hemoglobin production patients. In contrast, (+126 transition,...
The mammalian dorsal telencephalic neuroepithelium develops-from medial to lateral-into the choroid plaque, cortical hem, hippocampal primordium and isocortex under influence of Bmp, Wnt Notch signaling. Correct development requires a tight coordination extent/duration these signals, but identification possible molecular coordinators is still limited. Here, we postulated that Secreted Frizzled Related Protein 1 (Sfrp1), multifunctional regulator signaling strongly expressed during early...
Highlights•Efficient mast cell production is achieved with novel Gata2-reporter PSCs•14-day PSC culture produces cells and self-renewing progenitors•Gata2-reporter have high protease content degranulate•Gata2-reporter iPSC method advances prospects for human researchSummaryMast are tissue-resident immune cells. Their overgrowth/overactivation results in a range of common distressing, sometimes life-threatening disorders, including asthma, psoriasis, anaphylaxis, mastocytosis. Currently, drug...