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Deep phenotyping has been defined as the precise and comprehensive analysis of phenotypic abnormalities in which the individual components of the phenotype are observed and described. The three components of the Human Phenotype Ontology (HPO; www.human-phenotype-ontology.org) project are the phenotype vocabulary, disease-phenotype annotations and the(More)
ctivation of mammalian Notch receptor by its ligands induces TNF ␣-converting enzyme–dependent ecto-domain shedding, followed by intramembrane proteo-lysis due to presenilin (PS)-dependent ␥-secretase activity. Here, we demonstrate that a new modification, a mono-ubiquitination, as well as clathrin-dependent endocytosis, is required for ␥-secretase(More)
ORPHANET is the reference information portal on rare diseases and orphan drugs for healthcare professionals and for general audience. After ten years of evolution, current ORPHANET tools cannot support efficiently the edition, update and data sharing processes demanded by a constantly growing rare diseases knowledge. In order to improve the editing(More)
There is currently very little information available about the disabilities encountered by rare disease (RD) patients. Orphanet [http://www.orpha.net], the international database and portal on RDs and orphan drugs, has developed various projects to improve the knowledge and visibility of disabilities associated with RDs, and to provide tools to help the(More)
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