title: UFD1L and CDC45L: a role in DiGeorge syndrome and related phenotypes?
abstract: Molecular genetics is contributing to the understanding of normal and abnormal cardiovascular development and morphogenesis. Deletions of chromosome 22q11.2 have been associated with distinct phenotypes that result from a failure to form derivatives of third and fourth branchial arches, including DiGeorge syndrome (DGS) and velo-cardio-facial syndrome (VCFS). The biochemical mechanisms underlying these phenotypes remain undetermined. A recent study provides new insight into the mechanism by which gene deletions produce the DGS and VCFS phenotypes.
authors.affiliation: Department of Biopathology and Diagnostic Imaging, Tor Vergata University of Rome, Via di Tor Vergata 135-00133 Rome, Italy. novelli@med.uniroma2.it
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: F
authors.initials: F
authors.lastname: Amati
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
mesh_terms: D033942:Adaptor Proteins, Vesicular Transport; D018797:Cell Cycle Proteins / Q000235:genetics*; D004062:DiGeorge Syndrome / Q000235:genetics*; D006801:Humans; D047908:Intracellular Signaling Peptides and Proteins; D008957:Models, Genetic; D010641:Phenotype; D011506:Proteins / Q000235:genetics*; D014681:Velopharyngeal Insufficiency / Q000235:genetics
chemical_list: D033942:Adaptor Proteins, Vesicular Transport; C113571:CDC45 protein, human; C491876:Cdc45 protein, mouse; D018797:Cell Cycle Proteins; D047908:Intracellular Signaling Peptides and Proteins; D011506:Proteins; C491497:UFD1 protein, human