dc.contributor.author | Legati, A. | |
dc.contributor.author | Giovannini, D. | |
dc.contributor.author | Nicolas, G. | |
dc.contributor.author | López-Sánchez, U. | |
dc.contributor.author | Quintans Castro, Beatriz | |
dc.contributor.author | Oliveira, J. R. M. | |
dc.contributor.author | Sears, R. L. | |
dc.contributor.author | Ramos, E. M. | |
dc.contributor.author | Spiteri, E. | |
dc.contributor.author | Sobrido Gómez, María Jesús | |
dc.contributor.author | Carracedo Álvarez, Ángel | |
dc.contributor.author | Castro Fernández, Cristina | |
dc.contributor.author | Cubizolle, S. | |
dc.contributor.author | Fogel, B. L. | |
dc.contributor.author | Goizet, C. | |
dc.contributor.author | Jen, J. C. | |
dc.contributor.author | Kirdlarp, S. | |
dc.contributor.author | Lang, A. E. | |
dc.contributor.author | Miedzybrodzka, Z. | |
dc.contributor.author | Mitarnun, W. | |
dc.contributor.author | Paucar, M. | |
dc.contributor.author | Paulson, H. | |
dc.contributor.author | Pariente, J. | |
dc.contributor.author | Richard, A. C. | |
dc.contributor.author | Salins, N. S. | |
dc.contributor.author | Simpson, S. A. | |
dc.contributor.author | Striano, P. | |
dc.contributor.author | Svenningsson, P. | |
dc.contributor.author | Tison, F. | |
dc.contributor.author | Unni, V. K. | |
dc.contributor.author | Vanakker, O. | |
dc.contributor.author | Wessels, M. W. | |
dc.contributor.author | Wetchaphanphesat, S. | |
dc.contributor.author | Yang, M. | |
dc.contributor.author | Boller, F. | |
dc.contributor.author | Campion, D. | |
dc.contributor.author | Hannequin, D. | |
dc.contributor.author | Sitbon, M. | |
dc.contributor.author | Geschwind, D. H. | |
dc.contributor.author | Battini, J. L. | |
dc.contributor.author | Coppola, G. | |
dc.date.accessioned | 2017-06-07T07:35:15Z | |
dc.date.available | 2017-06-07T07:35:15Z | |
dc.date.issued | 2015 | |
dc.identifier.issn | 1061-4036 | |
dc.identifier.uri | http://hdl.handle.net/20.500.11940/8250 | |
dc.description.abstract | Primary familial brain calcification (PFBC) is a neurological disease characterized by calcium phosphate deposits in the basal ganglia and other brain regions and has thus far been associated with SLC20A2, PDGFB or PDGFRB mutations. We identified in multiple families with PFBC mutations in XPR1, a gene encoding a retroviral receptor with phosphate export function. These mutations alter phosphate export, implicating XPR1 and phosphate homeostasis in PFBC. | |
dc.description.sponsorship | Lung GO Sequencing Project | |
dc.description.sponsorship | Lung GO Sequencing Project | |
dc.description.sponsorship | Women's Health Initiative (WHI) Sequencing Project | |
dc.description.sponsorship | Broad GO Sequencing Project | |
dc.description.sponsorship | Seattle GO Sequencing Project | |
dc.description.sponsorship | Heart GO Sequencing Project | |
dc.description.sponsorship | United States Department of Health & Human Services | |
dc.description.sponsorship | National Institutes of Health (NIH) - USA | |
dc.description.sponsorship | NIH National Institute of Neurological Disorders & Stroke (NINDS) | |
dc.description.sponsorship | Association Francaise contre les Myopathies | |
dc.description.sponsorship | Ligue Nationale contre le Cancer (Comite de l'Herault) | |
dc.description.sponsorship | Fondation pour la Recherche Medicale | |
dc.description.sponsorship | FEDER European Union Languedoc-Roussillon grant | |
dc.description.sponsorship | National Institute of Neurological Disorders and Stroke | |
dc.description.sponsorship | Informatics Center for Neurogenetics and Neurogenomics | |
dc.description.sponsorship | Fondation pour la Recherche Medicale | |
dc.description.sponsorship | Institut National du Cancer (INCA) France | |
dc.description.sponsorship | Labex GR-Ex | |
dc.description.sponsorship | Labex EpiGenMed | |
dc.description.sponsorship | French National Research Agency (ANR) | |
dc.description.sponsorship | Institut National de la Sante et de la Recherche Medicale (Inserm) | |
dc.description.sponsorship | European Commission | |
dc.description.sponsorship | Instituto de Salud Carlos III (ISCIII) | |
dc.description.sponsorship | INNOPHARMA project MINECO-USC | |
dc.description.sponsorship | Servizo Galego de Saúde (SERGAS) | |
dc.description.sponsorship | National Council for Scientific and Technological Development (CNPq) | |
dc.description.sponsorship | United States Department of Health & Human Services | |
dc.description.sponsorship | National Institutes of Health (NIH) - USA | |
dc.description.sponsorship | NIH National Institute of Mental Health (NIMH) | |
dc.description.sponsorship | United States Department of Health & Human Services | |
dc.description.sponsorship | National Institutes of Health (NIH) - USA | |
dc.description.sponsorship | NIH National Institute of Neurological Disorders & Stroke (NINDS) | |
dc.description.sponsorship | University Hospital of Rouen | |
dc.description.sponsorship | French CNR-MAJ | |
dc.description.sponsorship | United States Department of Health & Human Services | |
dc.description.sponsorship | National Institutes of Health (NIH) - USA | |
dc.description.sponsorship | NIH National Heart Lung & Blood Institute (NHLBI) | |
dc.description.sponsorship | United States Department of Health & Human Services | |
dc.description.sponsorship | National Institutes of Health (NIH) - USA | |
dc.description.sponsorship | NIH National Institute of Mental Health (NIMH) | |
dc.description.sponsorship | United States Department of Health & Human Services | |
dc.description.sponsorship | National Institutes of Health (NIH) - USA | |
dc.description.sponsorship | NIH National Institute of Neurological Disorders & Stroke (NINDS) | |
dc.language.iso | eng | |
dc.subject.mesh | Brain Diseases, Metabolic, Inborn | |
dc.subject.mesh | Calcinosis | |
dc.subject.mesh | DNA Mutational Analysis | |
dc.subject.mesh | Female | |
dc.subject.mesh | Genetic Association Studies | |
dc.subject.mesh | Genetic Predisposition to Disease | |
dc.subject.mesh | HEK293 Cells | |
dc.subject.mesh | Humans | |
dc.subject.mesh | Lod Score | |
dc.subject.mesh | Male | |
dc.subject.mesh | Middle Aged | |
dc.subject.mesh | Mutation, Missense | |
dc.subject.mesh | Neurodegenerative Diseases | |
dc.subject.mesh | Pedigree | |
dc.subject.mesh | Receptors, G-Protein-Coupled | |
dc.subject.mesh | Receptors, Virus | |
dc.title | Mutations in XPR1 cause primary familial brain calcification associated with altered phosphate export | |
dc.type | Artigo | es |
dc.authorsophos | Legati, A. | |
dc.authorsophos | Giovannini, D. | |
dc.authorsophos | Nicolas, G. | |
dc.authorsophos | López-Sánchez, U. | |
dc.authorsophos | Quintáns, B. | |
dc.authorsophos | Oliveira, J. R. M. | |
dc.authorsophos | Sears, R. L. | |
dc.authorsophos | Ramos, E. M. | |
dc.authorsophos | Spiteri, E. | |
dc.authorsophos | Sobrido, M. J. | |
dc.authorsophos | Carracedo, Á | |
dc.authorsophos | Castro-Fernández, C. | |
dc.authorsophos | Cubizolle, S. | |
dc.authorsophos | Fogel, B. L. | |
dc.authorsophos | Goizet, C. | |
dc.authorsophos | Jen, J. C. | |
dc.authorsophos | Kirdlarp, S. | |
dc.authorsophos | Lang, A. E. | |
dc.authorsophos | Miedzybrodzka, Z. | |
dc.authorsophos | Mitarnun, W. | |
dc.authorsophos | Paucar, M. | |
dc.authorsophos | Paulson, H. | |
dc.authorsophos | Pariente, J. | |
dc.authorsophos | Richard, A. C. | |
dc.authorsophos | Salins, N. S. | |
dc.authorsophos | Simpson, S. A. | |
dc.authorsophos | Striano, P. | |
dc.authorsophos | Svenningsson, P. | |
dc.authorsophos | Tison, F. | |
dc.authorsophos | Unni, V. K. | |
dc.authorsophos | Vanakker, O. | |
dc.authorsophos | Wessels, M. W. | |
dc.authorsophos | Wetchaphanphesat, S. | |
dc.authorsophos | Yang, M. | |
dc.authorsophos | Boller, F. | |
dc.authorsophos | Campion, D. | |
dc.authorsophos | Hannequin, D. | |
dc.authorsophos | Sitbon, M. | |
dc.authorsophos | Geschwind, D. H. | |
dc.authorsophos | Battini, J. L. | |
dc.authorsophos | Coppola, G. | |
dc.identifier.doi | 10.1038/ng.3289 | |
dc.identifier.isi | 355386500007 | |
dc.identifier.pmid | 25938945 | |
dc.identifier.sophos | 19594 | |
dc.issue.number | 6 | |
dc.journal.title | NATURE GENETICS | |
dc.organization | Servizo Galego de Saúde::Estrutura de Xestión Integrada (EOXI)::EOXI de Santiago::IDIS.- Instituto de investigaciones sanitarias de Santiago | |
dc.organization | Consellería de Sanidade::Fundación pública Galega de Medicina Xenómica | |
dc.page.initial | 579 | |
dc.page.final | 581 | |
dc.relation.projectID | Lung GO Sequencing Project/HL-102923 | |
dc.relation.projectID | Women's Health Initiative (WHI) Sequencing Project /HL-102924 | |
dc.relation.projectID | Broad GO Sequencing Project /HL-102925 | |
dc.relation.projectID | Seattle GO Sequencing Project /HL-102926 | |
dc.relation.projectID | Heart GO Sequencing Project /HL-103010 | |
dc.relation.projectID | United States Department of Health & Human Services/
National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/R01NS040752 | |
dc.relation.projectID | Informatics Center for Neurogenetics and Neurogenomics /PSNS062691 | |
dc.relation.projectID | Labex GR-Ex /ANR-11-LABX-0051 | |
dc.relation.projectID | Labex EpiGenMed /ANR-10-LABX-12-01 | |
dc.relation.projectID | Instituto de Salud Carlos III/PI12/00742 | |
dc.relation.projectID | FACEPE /APQ 1831-4.01/12 | |
dc.relation.projectID | National Council for Scientific and Technological Development (CNPq)/457556/2013-7 | |
dc.relation.projectID | National Council for Scientific and Technological Development (CNPq)/480255/2013-0 | |
dc.relation.projectID | National Council for Scientific and Technological Development (CNPq)/307909/2012-3 | |
dc.relation.projectID | United States Department of Health & Human Services/
National Institutes of Health (NIH) - USA/
NIH National Institute of Mental Health (NIMH)/K08MH086297 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/R01NS082094 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/RC2HL103010 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/RC2HL102926 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/UC2HL102924 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/UC2HL102923 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/RC2HL102924 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Heart Lung & Blood Institute (NHLBI)/UC2HL102925 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Mental Health (NIMH)/K08MH086297 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/P30NS062691 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/R01NS040752 | |
dc.relation.projectID | United States Department of Health & Human Services/National Institutes of Health (NIH) - USA/NIH National Institute of Neurological Disorders & Stroke (NINDS)/R01NS082094 | |
dc.rights.accessRights | openAccess | |
dc.typesophos | Artículo Original | |
dc.volume.number | 47 | |