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

Denis A P Moura1, João Ricardo Mendes de Oliveira2,3

  • 1Laboratório de Imunopatologia Keizo Asami, Universidade Federal de Pernambuco, Recife, Brazil.

Journal of Molecular Neuroscience : MN
|July 3, 2020
PubMed

Insights

The platelet-derived growth factor receptor beta (PDGFRB) gene links to various developmental syndromes. Understanding its pleiotropy and protein interactions may reveal new therapeutic targets for these conditions.

Area of Science:

  • Genetics
  • Molecular Biology
  • Developmental Biology

Background:

  • The platelet-derived growth factor receptor beta (PDGFRB) gene plays a crucial role in mammalian proliferation and development.
  • Genetic variations in PDGFRB are associated with several syndromic conditions, including infantile myofibromatosis, port-wine stain, and primary familial brain calcification.

Purpose of the Study:

  • To investigate the genetic relationship between PDGFRB and various clinical conditions.
  • To evaluate protein interactions associated with PDGFRB using bioinformatics databases.

Main Methods:

  • Utilized GeneNetwork, GeneMANIA, and STRING databases for network analysis.
  • Examined the pleiotropic effects and protein interaction network of PDGFRB.

Main Results:

  • Confirmed the pleiotropy of PDGFRB, highlighting its numerous biological connections.
  • Established a link between PDGFRB variations and a spectrum of syndromic conditions.

Conclusions:

  • PDGFRB exhibits significant pleiotropy, connecting it to diverse developmental and syndromic disorders.
  • PDGFRB represents a potential therapeutic target for managing associated syndromic conditions.

Keywords:
Complex diseasesMolecular networkPleiotropyVariants

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