Article
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
Nature genetics - 1 Sept 2013
Keller Annika, Westenberger Ana, Sobrido Maria J, García-Murias Maria, Domingo Aloysius, Sears Renee L, Lemos Roberta R, Ordoñez-Ugalde Andres, Nicolas Gael, da Cunha José E Gomes, Rushing Elisabeth J, Hugelshofer Michael, Wurnig Moritz C, Kaech Andres, Reimann Regina, Lohmann Katja, Dobričić Valerija, Carracedo Angel, Petrović Igor, Miyasaki Janis M, Abakumova Irina, Mäe Maarja Andaloussi, Raschperger Elisabeth, Zatz Mayana, Zschiedrich Katja, Klepper Jörg, Spiteri Elizabeth, Prieto Jose M, Navas Inmaculada, Preuss Michael, Dering Carmen, Janković Milena, Paucar Martin, Svenningsson Per, Saliminejad Kioomars, Khorshid Hamid R K, Novaković Ivana, Aguzzi Adriano, Boss Andreas, Le Ber Isabelle, Defer Gilles, Hannequin Didier, Kostić Vladimir S, Campion Dominique, Geschwind Daniel H, Coppola Giovanni, Betsholtz Christer, Klein Christine, Oliveira Joao R M
Abstract excerpt
Calcifications in the basal ganglia are a common incidental finding and are sometimes inherited as an autosomal dominant trait (idiopathic basal ganglia calcification (IBGC)). Recently, mutations in the PDGFRB gene coding for the platelet-derived growth factor receptor β (PDGF-Rβ) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding...
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