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J Mol Neurosci ; 70(12): 2102-2106, 2020 Dec.
Article in English | MEDLINE | ID: mdl-32613555

ABSTRACT

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.


Subject(s)
Genetic Pleiotropy , Genetic Predisposition to Disease , Receptor, Platelet-Derived Growth Factor beta/genetics , Acro-Osteolysis/genetics , Binding Sites , Calcinosis/genetics , Growth Disorders/genetics , Humans , Limb Deformities, Congenital/genetics , Myofibromatosis/congenital , Myofibromatosis/genetics , Port-Wine Stain/genetics , Progeria/genetics , Protein Interaction Maps , Receptor, Platelet-Derived Growth Factor beta/chemistry , Receptor, Platelet-Derived Growth Factor beta/metabolism
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