A5010117766- Genomics and Rare Diseases
- Esophageal and GI Pathology
- Genomic variations and chromosomal abnormalities
- Hedgehog Signaling Pathway Studies
- Cancer-related Molecular Pathways
- Congenital heart defects research
- Genomics and Phylogenetic Studies
- Congenital gastrointestinal and neural anomalies
- Developmental Biology and Gene Regulation
- Craniofacial Disorders and Treatments
- Bone Metabolism and Diseases
- Cytokine Signaling Pathways and Interactions
- Wnt/β-catenin signaling in development and cancer
- Metabolism and Genetic Disorders
- Pathogenesis and Treatment of Hiccups
- dental development and anomalies
- Congenital Anomalies and Fetal Surgery
- RNA modifications and cancer
- Biomedical Text Mining and Ontologies
- Metabolomics and Mass Spectrometry Studies
- Congenital limb and hand anomalies
- Prenatal Screening and Diagnostics
- Gastrointestinal motility and disorders
- Nausea and vomiting management
- Bone health and treatments
University of Siena
2022
Leiden University Medical Center
2010-2016
Radboud University Nijmegen
1999-2005
Radboud University Medical Center
2000-2003
Locus-Specific DataBases (LSDBs) store information on gene sequence variation associated with human phenotypes and are frequently used as a reference by researchers clinicians. We developed the Leiden Open-source Variation Database (LOVD) platform-independent Web-based LSDB-in-a-Box package. LOVD was designed to be easy set up maintain follows Human Genome Society (HGVS) recommendations. Here we describe v.2.0, which adds enhanced flexibility functionality has capacity variants in multiple...
Summary Familial hypercholesterolemia (FH) is caused predominately by variants in the low‐density lipoprotein receptor gene ( LDLR ). We report here an update of UCL variant database to include reported literature and in‐house between 2008 2010, transfer LOVDv.2.0 platform https://grenada.lumc.nl/LOVD2/UCL‐Heart/home.php?select_db=LDLR ) pathogenicity analysis. The now contains over 1288 different FH patients: 55% exonic substitutions, 22% small rearrangements (<100 bp), 11% large...
Gene variant databases or Locus-Specific DataBases (LSDBs) are used to collect and display information on sequence variants a gene-by-gene basis. Their most frequent use is in relation DNA-based diagnostics, giving clinicians scientists easy access an up-to-date overview of all gene identified worldwide whether they influence the function ("pathogenic not"). While literature extensive, little has been published process database curation itself. Based our extensive experience as LSDB curators...
Serotonin type 3 (5-HT3 ) receptors are ligand-gated ion channels formed by five subunits (5-HT3A-E), which encoded the HTR3A, HTR3B, HTR3C, HTR3D, and HTR3E genes. Functional pentameric complexes of diverse composition. Different receptor subtypes confer a predisposition to nausea vomiting during chemotherapy, pregnancy, following surgery. In addition, different contribute neurogastroenterologic disorders such irritable bowel syndrome (IBS) eating as well comorbid psychiatric conditions....