|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic BMPR2 mutations were detected most frequently in 32 (17.9%) IPAH and 5 (41.7%) heritable PAH (HPAH) patients by sequencing, and 12 BMPR2 CNVs called from the panel data were all successfully confirmed by MLPA analysis.
|
29743074 |
2018 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
HPAH animal models are insulin resistant, and cells with BMPR2 mutation have impaired fatty acid oxidation, but whether these findings affect the RV in HPAH is unknown.
|
24274756 |
2014 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Monoallelic mutations in the gene encoding bone morphogenetic protein receptor 2 ( Bmpr2) are the main genetic risk factor for heritable pulmonary arterial hypertension (PAH) with incomplete penetrance.
|
30586714 |
2019 |
|
Familial primary pulmonary hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Germline mutations in the gene coding bone morphogenetic receptor type 2 (BMPR2) are detectable in the majority of cases of HPAH, and in a small proportion of cases of idiopathic pulmonary arterial hypertension (IPAH).
|
24037626 |
2013 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
BMPR2 mutations predispose to idiopathic and heritable pulmonary arterial hypertension (IPAH and HPAH).
|
22923421 |
2012 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mapping of familial primary pulmonary hypertension locus (PPH1) to chromosome 2q31-q32.
|
9193425 |
1997 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Thirteen children (age at diagnosis, 6 mo to 13 y; mean, 5.6 +/- 3.9 y) with invasively confirmed PPH were screened for BMPR2 mutations using denaturing HPLC and sequence analysis.
|
15295086 |
2004 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We assessed some family members for mutations in the gene encoding bone morphogenetic protein receptor II (BMPR2), which has recently been found to cause familial primary pulmonary hypertension.
|
11484688 |
2001 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Eighteen BMPR2 mutation carriers and 7 ALK1 mutation carriers were detected in the 54 patients with childhood IPAH or HPAH.
|
22632830 |
2012 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in BMPR2 encoding bone morphogenetic protein receptor type 2 (BMPRII) is the main genetic risk factor for heritable pulmonary arterial hypertension (PAH).
|
25429696 |
2015 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heritable pulmonary arterial hypertension (HPAH) is primarily caused by mutations of the bone morphogenetic protein (BMP) type-II receptor (BMPR2).
|
21920918 |
2011 |
|
Familial primary pulmonary hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.
|
10964520 |
2000 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, a cause for familial primary pulmonary hypertension (FPPH) has been identified as mutations in the gene encoding BMPR2.
|
16282533 |
2006 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor beta (TGF-beta) superfamily of receptors.
|
11484689 |
2001 |
|
Familial primary pulmonary hypertension
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Native pulmonary arterial and induced pluripotent stem cell-derived endothelial cells from patients with idiopathic and heritable pulmonary arterial hypertension compared with control subjects showed a similar reduction in adhesion, migration, survival, and tube formation, and decreased BMPR2 and downstream signaling and collagen IV expression.
|
27779452 |
2017 |
|
Familial primary pulmonary hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance.
|
22923426 |
2012 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Approximately 50% of patients with familial primary pulmonary hypertension (FPPH) have been reported to have mutations within the bone morphogenic protein receptor type 2 (BMPR2) gene.
|
15775752 |
2005 |
|
Familial primary pulmonary hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the bone morphogenetic protein receptor (BMPR2) gene have been observed in 70 % of patients with heritable pulmonary arterial hypertension (HPAH) and in 11-40 % with idiopathic PAH (IPAH).
|
27816994 |
2016 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutations in bone morphogenetic protein receptor type II (BMPR-II) underlie most cases of heritable pulmonary arterial hypertension (PAH).
|
26073741 |
2015 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Exonic deletions of BMPR2 account for at least part of BMPR2 mutations associated with heritable pulmonary arterial hypertension in Japan, as previously reported in other populations.
|
23579436 |
2013 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heritable pulmonary arterial hypertension (PAH) is an autosomal dominant disease with incomplete penetrance because of mutations in bone morphogenetic protein receptor-II (BMPR2), activin A receptor type II-like kinase 1, endoglin, caveolin-1, potassium channel subfamily K, member 3, and T-box gene 4 genes.
|
28661905 |
2017 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hyperoxia, despite its vasodilatory actions in the pulmonary circulation, significantly worsened the PAH phenotype (elevated right ventricular systolic pressure, decreased cardiac output, and increased pulmonary vascular occlusion) in Bmpr2 mutant animals.
|
23742019 |
2013 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Absence of influence of gender and BMPR2 mutation type on clinical phenotypes of pulmonary arterial hypertension.
|
20534176 |
2010 |
|
Idiopathic pulmonary arterial hypertension
|
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 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Hence, it is proposed that ALK1 plays as notable a role as BMPR2 in the etiology of PAH.
|
18159113 |
2008 |