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Article

Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.

Journal of cellular and molecular medicine - 1 Jan 2015

Arts Florence A, Velghe Amélie I, Stevens Monique, Renauld Jean-Christophe, Essaghir Ahmed, Demoulin Jean-Baptiste

Abstract excerpt

Platelet-derived growth factors (PDGF) bind to two related receptor tyrosine kinases, which are encoded by the PDGFRA and PDGFRB genes. Recently, heterozygous PDGFRB mutations have been described in patients diagnosed with idiopathic basal ganglia calcification (IBGC or Fahr disease), a rare inherited neurological disorder. The goal of the present study was to determine whether these mutations had a positive or...

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Source

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Identifiers

PMID: 25292412
DOI: 10.1111/jcmm.12443
PMCID: PMC4288366

Genes

PDGFRB
PDGFRA
STAT3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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