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Mutations in the ge...
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice
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- Keller, Annika (author)
- Uppsala universitet,Cancer och vaskulärbiologi
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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 Andaloussi (author)
- Uppsala universitet,Cancer och vaskulärbiologi
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- Raschperger, Elisabeth (author)
- Karolinska Institutet,Uppsala universitet,Cancer och vaskulärbiologi
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Zatz, Mayana (author)
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Zschiedrich, Katja (author)
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Klepper, Jorg (author)
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Spiteri, Elizabeth (author)
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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, Martin (author)
- Karolinska Institutet
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- Svenningsson, Per (author)
- Karolinska Institutet
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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 (author)
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Le Ber, Isabelle (author)
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Defer, Gilles (author)
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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, Christer (author)
- Karolinska Institutet,Uppsala universitet,Cancer och vaskulärbiologi
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Klein, Christine (author)
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Oliveira, Joao R. M. (author)
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(creator_code:org_t)
- 2013-08-04
- 2013
- English.
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 45:9, s. 1077-
- Related links:
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
Subject headings
Close
- 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.
Publication and Content Type
- ref (subject category)
- art (subject category)
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To the university's database
- By the author/editor
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Keller, Annika
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Westenberger, An ...
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Sobrido, Maria J ...
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Garcia-Murias, M ...
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Domingo, Aloysiu ...
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Sears, Renee L.
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show more...
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Lemos, Roberta R ...
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Ordonez-Ugalde, ...
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Nicolas, Gael
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Gomes da Cunha, ...
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Rushing, Elisabe ...
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Hugelshofer, Mic ...
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Wurnig, Moritz C ...
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Kaech, Andres
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Reimann, Regina
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Lohmann, Katja
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Dobricic, Valeri ...
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Carracedo, Angel
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Petrovic, Igor
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Miyasaki, Janis ...
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Abakumova, Irina
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Mäe, Maarja Anda ...
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Raschperger, Eli ...
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Zatz, Mayana
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Zschiedrich, Kat ...
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Klepper, Jorg
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Spiteri, Elizabe ...
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Prieto, Jose M.
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Navas, Inmaculad ...
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Preuss, Michael
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Dering, Carmen
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Jankovic, Milena
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Paucar, Martin
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Svenningsson, Pe ...
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Saliminejad, Kio ...
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Khorshid, Hamid ...
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Novakovic, Ivana
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Aguzzi, Adriano
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Boss, Andreas
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Le Ber, Isabelle
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Defer, Gilles
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Hannequin, Didie ...
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Kostic, Vladimir ...
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Campion, Dominiq ...
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Geschwind, Danie ...
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Coppola, Giovann ...
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Betsholtz, Chris ...
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Klein, Christine
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Oliveira, Joao R ...
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show less...
- Articles in the publication
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Nature Genetics
- By the university
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Uppsala University
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Karolinska Institutet