Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137852741
rs137852741
BMPR2
0.040 GeneticVariation BEFREE Using a targeted in vivo gene delivery approach, we assessed the impact of BMPR2 gene delivery in a transgenic mouse model in which PAH was first induced by doxycycline driven expression of a dominant negative BMPR2 mutant (R899X). 26689975

2016
dbSNP: rs137852741
rs137852741
BMPR2
0.040 GeneticVariation BEFREE Administration of rhACE2 to Rosa26-Bmpr2(R899X) mice with established PAH normalizes pulmonary pressures. 22180660

2012
dbSNP: rs137852741
rs137852741
BMPR2
0.040 GeneticVariation BEFREE Three BMPR2 mutants, D485G, N519K, and R899X, which are known to be involved in PAH, were chosen as our model system. 21622843

2011
dbSNP: rs137852741
rs137852741
BMPR2
0.040 GeneticVariation BEFREE We tested this notion using bone marrow-derived macrophages (BMDM; precursors of tissue macrophages) isolated from ROSA26rtTAXTetO(7)-tet-BMPR2(R899X) mice (model of PAH with universal expression of a mutated BMPR2 gene) with and without activation by LPS and in human lung tissue from HPAH with BMPR2 mutations and idiopathic PAH (IPAH). 20562228

2010