ArticleNature genetics2013
Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice.
Article in Nature genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 185 papers, 1 of them a synthesis that pooled it.
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Who cites it
185 citing papers in PubMed, 1 synthesis or guideline pooled it, 326 citations in OpenAlex.
- Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.eNeuro · 2025Pooled it
- Brain calcification-associated JAM2 pathogenic mutations impair JAM2-JAM3 tight junction structure and the blood-brain barrier integrity.Brain pathology (Zurich, Switzerland) · 2026Article
- The bone-cerebrovascular axis: effects of bone aging on neurovascular dysfunction and neurodegeneration.The Journal of clinical investigation · 2026Review
- Omics signature of new-onset mild cognitive impairment and dementia in a population-based study.Scientific reports · 2026Article
- A FZD4/LRP5 agonist restores pericyte coverage and vascular integrity by increasing PDGFB signaling.bioRxiv : the preprint server for biology · 2026Article
- Experimental Primary Brain Calcification Model and Its Application to Pathogenesis Mechanism Analysis and Therapeutic Research.Neurology international · 2025Review
- RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- Genetic background of neurological disorders with basal ganglia calcification.Journal of neurology · 2025Article
- Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.Brain : a journal of neurology · 2025Review
- Generation of a new Slc20a2 knockout mouse line as in vivo model for primary brain calcification.Molecular brain · 2025Article
- The blood-brain barrier: a help and a hindrance.Brain : a journal of neurology · 2025Review
- Mapping Disorders with Neurological Features Through Mitochondrial Impairment Pathways: Insights from Genetic Evidence.Current issues in molecular biology · 2025Review
- Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- PDGFRα/β heterodimer activation negatively affects downstream ERK1/2 signaling and cellular proliferation.Nature communications · 2025Article
- Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.Annals of clinical and translational neurology · 2025Article
- Deep clinical, genetic, and serum biomarker profiling indicates glial and neuronal pathology in primary brain calcification.Brain communications · 2025Article
- Bilateral Cerebral Calcifications in Secondary Fahr's Syndrome.Case reports in neurological medicine · 2025Article
- The role of endothelial cell-pericyte interactions in vascularization and diseases.Journal of advanced research · 2025Review
- Astrocytes in Primary Familial Brain Calcification (PFBC): Emphasis on the Importance of Induced Pluripotent Stem Cell-Derived Human Astrocyte Models.Advances in experimental medicine and biology · 2025Review
- Targeting TREM2 signaling shows limited impact on cerebrovascular calcification.Life science alliance · 2025Article
125 more citing papers are in PubMed but not listed here.
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49 authors at 20 institutions in 10 countries.
Funding
Abstract
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 PDGF-B, the main ligand for PDGF-Rβ. 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.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.