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The Master of Puppets: Pleiotropy of PDGFRB and its Relationship to Multiple Diseases.
Journal of Molecular Neuroscience ( IF 2.8 ) Pub Date : 2020-06-29 , DOI: 10.1007/s12031-020-01618-4
Denis A P Moura 1 , João Ricardo Mendes de Oliveira 1, 2
Affiliation  

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.



中文翻译:

木偶大师:PDGFRB 的多效性及其与多种疾病的关系。

血小板衍生生长因子受体β ( PDGFRB ) 基因参与哺乳动物的增殖和发育过程。该基因的变异导致几种不同的综合征状况,例如婴儿肌纤维瘤病 I、散发性葡萄酒色斑、原发性家族性脑钙化以及 Penttinen 和过度生长综合征。我们的目标是研究PDGFRB与临床状况的遗传关系,并使用 GeneNetwork、GeneMANIA 和 STRING 网络数据库评估蛋白质相互作用。我们已经通过该基因的许多联系及其与综合征状况的联系证明了该基因的多效性。因此,PDGFRB可能是治疗此类病症的重要治疗靶点。

更新日期:2020-07-01
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