Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report a novel frameshift mutation (c.117InsT, p.Y40fsX48) of the BMPR2 gene identified in a 19-year-old IPAH patient with syncope.
|
31626133 |
2019 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic BMPR2 mutations were identified in 8 of 72 (11.1%) patients with IPAH and 6 of 9 (66.7%) patients with HPAH.
|
27884767 |
2017 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Idiopathic pulmonary arterial hypertension (IPAH) is usually without an identified genetic cause, despite clinical and molecular similarity to bone morphogenetic protein receptor type 2 mutation-associated heritable pulmonary arterial hypertension (PAH).
|
26926454 |
2016 |
Idiopathic pulmonary hypertension
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic counselling in a national referral centre for pulmonary hypertension.
|
26699722 |
2016 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We describe a case of a 35-year-old woman with idiopathic pulmonary arterial hypertension (IPAH) and a novel BMPR2 mutation, who underwent a successful lung transplantation.
|
27537724 |
2016 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
After adjustment for clinical features, a BMPR2 mutation and haemodynamics, a lower NOx level remained an increased risk of mortality.Patients with IPAH had lower levels of plasma NOx, which correlated inversely with mPAP, PVR and survival.
|
27660508 |
2016 |
Idiopathic pulmonary hypertension
|
0.600 |
Biomarker
|
disease |
MGD |
Selective enhancement of endothelial BMPR-II with BMP9 reverses pulmonary arterial hypertension.
|
26076038 |
2015 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Idiopathic pulmonary arterial hypertension (PAH [IPAH]) is an insidious and potentially fatal disease linked to a mutation or reduced expression of bone morphogenetic protein receptor 2 (BMPR2).
|
24446489 |
2014 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Exome capture and sequencing was performed on genomic DNA isolated from 12 unrelated patients with IPAH lacking BMPR2 mutations.
|
24702692 |
2014 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The mutations of bone morphogenetic protein receptor type 2 (BMPR2) in patients with idiopathic pulmonary hypertension has been well defined.
|
23098893 |
2013 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
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 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the bone morphogenetic protein receptor type 2 (BMPR2) gene, the activin receptor-like kinase 1 (ALK1) gene, and SMAD8 gene have been reported in heritable pulmonary arterial hypertension (HPAH) and in idiopathic pulmonary arterial hypertension (IPAH).
|
22374147 |
2012 |
Idiopathic pulmonary hypertension
|
0.600 |
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 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In 49 patients (86.3% of patients with familial aggregation and 14.3% of sporadic IPAH) mutations of the BMPR2 gene have been identified.
|
21801371 |
2011 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
With advances in genomic technology and with international collaborative efforts, genome-wide association studies will be conducted to identify additional genes for HPAH, genetic modifiers for BMPR2 penetrance, and genetic susceptibility to IPAH.
|
23733703 |
2011 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In a cohort of Swiss patients with IPAH (n = 16) and CTEPH (n = 16), and in 24 controls with left heart disease without PH, polymorphisms in the BMPR2, 5-HHT, 5-HTR-2A and eNOS genes were analyzed and correlated with various clinical, functional and hemodynamic parameters.
|
19844076 |
2010 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We demonstrate that GDF5 and BMP2 prevent apoptosis induced by serum starvation in mouse embryonic fibroblasts but not in smooth muscle cells via the BMP receptor 2 (BMPR2), which is often mutated in hereditary cases of primary pulmonary hypertension.
|
19782107 |
2009 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
With advances in genomic technology and with international collaborative efforts, genome-wide association studies will be conducted to identify additional genes for HPAH, genetic modifiers for BMPR2 penetrance and genetic susceptibility to IPAH.
|
19555857 |
2009 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This issue will become increasingly important, as clinical testing for BMPR2 mutations is now available for the evaluation of patients and family members with HPAH and IPAH.
|
19634078 |
2009 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
No mutation was detected in BMPR2 in the other 10 patients with IPAH.
|
18364108 |
2008 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Bone morphogenetic protein receptor type 2 (BMPR-2) gene mutations have been identified to cause IPAH.
|
18097622 |
2008 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The true prevalence of BMPR2 mutations in IPAH is unknown, with reports ranging from 10% to 40% of patients.
|
17338927 |
2007 |
Idiopathic pulmonary hypertension
|
0.600 |
Biomarker
|
disease |
BEFREE |
Mutations in the bone morphogenetic protein (BMP) receptor-2 (BMPR2) have been found in patients with idiopathic pulmonary arterial hypertension (IPAH); however, the mechanistic link between loss of BMPR2 signaling and the development of pulmonary arterial hypertension is unclear.
|
16357305 |
2006 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BMPR2 gene rearrangements account for a significant proportion of mutations in familial and idiopathic pulmonary arterial hypertension.
|
16429403 |
2006 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.
|
15775752 |
2005 |