The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases


The platelet-derived growth factor receptor beta (PDGFRB) gene is involved in proliferative and developmental processes in mammals. Variations in this gene lead to several different syndromic conditions, such as infantile myofibromatosis I, sporadic port-wine stain, primary familial brain calcification, and the Penttinen and overgrowth syndromes. Our objective was to investigate PDGFRB’s genetic relationship to clinical conditions and evaluate the protein interactions using GeneNetwork, GeneMANIA, and STRING network databases. We have evidenced the gene’s pleiotropy through its many connections and its link to syndromic conditions. Therefore, PDGFRB may be an important therapeutic target for treating such conditions.

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We would like to thank the Brazilian funding agency FACEPE (IBPG-0465-2.02/17) for financial support during this project.

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Correspondence to João Ricardo Mendes de Oliveira.

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Number of publications citing PDGFRB present in PubMed database. (PNG 16 kb)


Number of publications about clinical conditions citing PDGFRB in their titles or abstracts. (PNG 71 kb)


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Moura, D.A.P., de Oliveira, J.R.M. The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases. J Mol Neurosci (2020).

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  • Molecular network
  • Complex diseases
  • Pleiotropy
  • Variants