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Mutations in the ge...
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Keller, AnnikaUppsala universitet,Cancer och vaskulärbiologi
(author)
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
- Article/chapterEnglish2013
Publisher, publication year, extent ...
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2013-08-04
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Springer Science and Business Media LLC,2013
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printrdacarrier
Numbers
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LIBRIS-ID:oai:DiVA.org:uu-208063
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https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-208063URI
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https://doi.org/10.1038/ng.2723DOI
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http://kipublications.ki.se/Default.aspx?queryparsed=id:127291533URI
Supplementary language notes
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Language:English
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Summary in:English
Part of subdatabase
Classification
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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These authors jointly directed and contributed equally to this work:Annika Keller, Ana Westenberger, Maria J Sobrido, Christer Betsholtz, Christine Klein & Joao R M Oliveira
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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 beta (PDGF-R beta) were linked to IBGC. Here we identify six families of different ancestry with nonsense and missense mutations in the gene encoding PDGF-B, the main ligand for PDGF-R beta. We also show that mice carrying hypomorphic Pdgfb alleles develop brain calcifications that show age-related expansion. The occurrence of these calcium depositions depends on the loss of endothelial PDGF-B and correlates with the degree of pericyte and blood-brain barrier deficiency. Thus, our data present a clear link between Pdgfb mutations and brain calcifications in mice, as well as between PDGFB mutations and IBGC in humans.
Added entries (persons, corporate bodies, meetings, titles ...)
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Westenberger, Ana
(author)
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Sobrido, Maria J.
(author)
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Garcia-Murias, Maria
(author)
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Domingo, Aloysius
(author)
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Sears, Renee L.
(author)
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Lemos, Roberta R.
(author)
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Ordonez-Ugalde, Andres
(author)
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Nicolas, Gael
(author)
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Gomes da Cunha, Jose E.
(author)
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Rushing, Elisabeth J.
(author)
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Hugelshofer, Michael
(author)
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Wurnig, Moritz C.
(author)
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Kaech, Andres
(author)
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Reimann, Regina
(author)
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Lohmann, Katja
(author)
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Dobricic, Valerija
(author)
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Carracedo, Angel
(author)
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Petrovic, Igor
(author)
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Miyasaki, Janis M.
(author)
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Abakumova, Irina
(author)
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Mäe, Maarja AndaloussiUppsala universitet,Cancer och vaskulärbiologi(Swepub:uu)maaan970
(author)
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Raschperger, ElisabethKarolinska Institutet,Uppsala universitet,Cancer och vaskulärbiologi(Swepub:uu)elira449
(author)
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Zatz, Mayana
(author)
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Zschiedrich, Katja
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Klepper, Jorg
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Spiteri, Elizabeth
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Prieto, Jose M.
(author)
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Navas, Inmaculada
(author)
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Preuss, Michael
(author)
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Dering, Carmen
(author)
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Jankovic, Milena
(author)
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Paucar, MartinKarolinska Institutet
(author)
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Svenningsson, PerKarolinska Institutet
(author)
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Saliminejad, Kioomars
(author)
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Khorshid, Hamid R. K.
(author)
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Novakovic, Ivana
(author)
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Aguzzi, Adriano
(author)
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Boss, Andreas
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Le Ber, Isabelle
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Defer, Gilles
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Hannequin, Didier
(author)
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Kostic, Vladimir S.
(author)
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Campion, Dominique
(author)
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Geschwind, Daniel H.
(author)
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Coppola, Giovanni
(author)
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Betsholtz, ChristerKarolinska Institutet,Uppsala universitet,Cancer och vaskulärbiologi(Swepub:uu)chbet517
(author)
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Klein, Christine
(author)
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Oliveira, Joao R. M.
(author)
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Uppsala universitetCancer och vaskulärbiologi
(creator_code:org_t)
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In:Nature Genetics: Springer Science and Business Media LLC45:9, s. 1077-+1061-40361546-1718
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Nature Genetics
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