Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE We have previously demonstrated that low-dose lipopolysaccharide (LPS) is a potent stimulus for the development of PAH in the context of a genetic PAH mouse model of BMPR2 dysfunction. 30160594 2020
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE Pulmonary arterial hypertension is related to mutations in the bone morphogenetic protein receptor type 2, pulmonary vascular dysfunction and is increasingly recognized as a systemic disease. 30632900 2020
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Pulmonary arterial hypertension (PAH) is characterized by pulmonary arterial endothelial cell (PAEC) dysfunction and apoptosis, pulmonary arterial smooth muscle cell (PASMC) proliferation, inflammation, vasoconstriction, and metabolic disturbances that include disrupted bone morphogenetic protein receptor (BMPR2)-peroxisome proliferator-activated receptor gamma (PPARγ) axis and DNA damage. 31815758 2020
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE Documentation of the RNF213 p.Arg4810Lys variant, as well as already known pathogenic genes, such as BMPR2, can provide clinically relevant information for therapeutic strategies, leading to a personalized approach for the treatment of PAH. 31542298 2020
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Since the identification of BMPR2, which encodes a receptor in the transforming growth factor-β superfamily, the development of high-throughput sequencing approaches to identify novel causal genes has substantially advanced our understanding of the molecular genetics of PAH. 31406341 2020
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Altogether, this study sheds light on the basic mechanisms of BMPR2 degradation and highlights a crucial role for autophagy in PAH.© 2019 The Authors. 31257577 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 AlteredExpression disease BEFREE BMPR2 and FHIT expression were reduced in patients with PAH. 30107138 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE Even in the absence of BMPR2 mutations, increased transforming growth factor (TGF)β receptor signalling and decreased BMPRII signalling have been shown to contribute to PAH pathogenesis. 30529762 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Using a BMPR2 transgenic murine model of PAH and two models of inducible diabetes mellitus, we explored the impact of hyperglycemia and/or hyperinsulinemia on development and severity of PH. 28704134 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE Patients with pulmonary arterial hypertension (PAH) can harbor mutations in several genes, most commonly in BMPR2. 30134121 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE In this study, we examined whether rats with the Bmpr2 mutation were susceptible to developing more severe PAH. 30586714 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Treatment with BMPR2-BM-ELPC attenuated PAH as demonstrated by a reduction in right ventricular hypertrophy as well as right ventricular systolic and mean pulmonary arterial pressures. 30977250 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Arterial remodeling-a hallmark of many cardiovascular pathologies including pulmonary arterial hypertension (PAH)-is regulated by TGFβ1 (transforming growth factor-β1)-TGFβ receptors and the antagonistic, vasoprotective BMPR2 (bone morphogenetic protein receptor 2)-PPARγ (peroxisome proliferator-activated receptor-γ) axis. 31023188 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Here we show that the receptor BMP type 2 (BMPR2) serves as a central gatekeeper of this balance, highlighted by its deregulation in diseases such as pulmonary arterial hypertension (PAH). 31826007 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE Loss of function mutations in the type II BMP receptor BMPR2 are the leading cause of pulmonary arterial hypertension (PAH), a rare disease of vascular occlusion that leads to high blood pressure in the pulmonary arteries. 31797984 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE BMPR2 mutations and endothelial dysfunction in pulmonary arterial hypertension (2017 Grover Conference Series). 29521190 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Thus, we conjectured that miR-191, in ASCs and ASCs-Exos, plays an important role in PAH via regulation of BMPR2. 31119161 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE R899X<sup>+/-</sup> BMPR2 transgenic mice fed a Western diet for six weeks were given daily injections of IL-1ß prior to assessment for PAH and tissue collection. 28828907 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE Therefore, the subject was considered to have had heritable PAH due to a BMPR2 gene mutation. 31302445 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE HPAEC made dysfunctional by siRNA-mediated BMPR2 depletion showed downregulation of 18 and upregulation of 19 P2 receptor Ca<sup>2+</sup> signalosome genes including PLCD4, which was found to be upregulated in iPSC-EC from BMPR2-mutant patients with pulmonary arterial hypertension. 31396838 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE Heritable pulmonary arterial hypertension (PAH) is one such disorder characterised by rare mutations mostly occurring in the bone morphogenetic protein receptor type 2 (<i>BMPR2</i>) gene and a wide heterogeneity of penetrance modifier mechanisms. 30894412 2019
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 AlteredExpression disease BEFREE Reduced bone morphogenetic protein receptor 2 (BMPR2) expression in patients with PAH impairs pulmonary arterial endothelial cells (PAECs) function. 29374556 2018
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 GeneticVariation disease BEFREE GCN2 expression was quantified by Western blotting in 24 PVOD patients, 44 patients with pulmonary arterial hypertension (PAH; 23 bone morphogenetic protein receptor type II [BMPR2] mutation carriers, 21 non-carriers), and 3 experimental pulmonary hypertension models. 29108819 2018
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Full elucidation of BMPR2-mediated pathogenic mechanisms in PAH requires persistent efforts to achieve precision or individualized medicine as a therapeutic strategy for PAH. 29023671 2018
Entrez Id: 659
Gene Symbol: BMPR2
BMPR2
0.700 Biomarker disease BEFREE Baicalein attenuated MCT-induced PAH in rats by inhibiting EndoMT partially via the NF-κB-BMPR2 pathway. 29969608 2018