ArticleHuman mutation2014
Genetic screening and functional characterization of PDGFRB mutations associated with basal ganglia calcification of unknown etiology.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 51 citations in OpenAlex.
- Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.eNeuro · 2025Pooled it
- The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.Journal of molecular neuroscience : MN · 2020Pooled it
- Cerebellar and brainstem MRI alterations in primary brain calcification.Neuroradiology · 2026Article
- Temperature as a Key Modulator: Investigating Phosphorylation Patterns of p.Asn666Human mutation · 2025Article
- Case report: Primary familial brain calcification associated with a rareFrontiers in neuroscience · 2024Article
- The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023Review
- Brain Calcifications: Genetic, Molecular, and Clinical Aspects.International journal of molecular sciences · 2023Review
- The Pathology of Primary Familial Brain Calcification: Implications for Treatment.Neuroscience bulletin · 2023Review
- A case report of a patient with primary familial brain calcification with aFrontiers in neurology · 2023Article
- Classification of Dystonia.Life (Basel, Switzerland) · 2022Review
- Conserved and context-dependent roles for pdgfrb signaling during zebrafish vascular mural cell development.Developmental biology · 2021Article
- PDGF receptor mutations in human diseases.Cellular and molecular life sciences : CMLS · 2021Review
- A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.BMC neurology · 2019Review
- Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response.Brain : a journal of neurology · 2019Article
- Clinical Features of Primary Familial Brain Calcification in 17 Families.Chinese medical journal · 2018Article
- Primary brain calcification: an international study reporting novel variants and associated phenotypes.European journal of human genetics : EJHG · 2018Article
- Co-occurrence of a novelClinical case reports · 2018Article
- Clinical and radiological diversity in genetically confirmed primary familial brain calcification.Scientific reports · 2017Article
- Inherited Arterial Calcification Syndromes: Etiologies and Treatment Concepts.Current osteoporosis reports · 2017Review
- Novel mutations of PDGFRB cause primary familial brain calcification in Chinese families.Journal of human genetics · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Three causal genes for idiopathic basal ganglia calcification (IBGC) have been identified. Most recently, mutations in PDGFRB, encoding a member of the platelet-derived growth factor receptor family type β, and PDGFB, encoding PDGF-B, the specific ligand of PDGFRβ, were found implicating the PDGF-B/PDGFRβ pathway in abnormal brain calcification. In this study, we aimed to identify and study mutations in PDGFRB and PDGFB in a series of 26 patients from the Mayo Clinic Florida Brain Bank with moderate to severe basal ganglia calcification (BCG) of unknown etiology. No mutations in PDGFB were found. However, we identified one mutation in PDGFRB, p.R695C located in the tyrosine kinase domain, in one BGC patient. We further studied the function of p.R695C mutant PDGFRβ and two previously reported mutants, p.L658P and p.R987W PDGFRβ in cell culture. We show that, in response to PDGF-BB stimulation, the p.L658P mutation completely suppresses PDGFRβ autophosphorylation, whereas the p.R695C mutation results in partial loss of autophosphorylation. For the p.R987W mutation, our data suggest a different mechanism involving reduced protein levels. These genetic and functional studies provide the first insight into the pathogenic mechanisms associated with PDGFRB mutations and provide further support for a pathogenic role of PDGFRB mutations in BGC.
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Registered trials
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.