Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We conducted a molecular study of BMPR2 mutations in 4 Japanese families with familial PPH and 30 Japanese patients with sporadic PPH, and found 13 different mutations, of which 10 were novel, including missense (n=2), nonsense (n=4), frameshift (n=3), and splice-donor site (n=1) mutations.
|
15146475 |
2004 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The findings provide strong evidence that amfepramone can trigger primary pulmonary hypertension in a bone morphogenetic protein receptor type II gene mutation carrier, and indicate that other genes are probably implicated in genetic susceptibility to appetite suppressants.
|
14516151 |
2003 |
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 |
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 |
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 |
The first case of BMPR2 mutation found in Japan is reported here in a 19-year-old woman with a clinical diagnosis of PPH and no identifiable family history of pulmonary hypertension.
|
15170098 |
2004 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in BMPR2 and ALK-1, genes that encode members of the transforming growth factor-beta (TGF-beta) receptor superfamily, have been found in patients with primary pulmonary hypertension.
|
11869166 |
2002 |
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 |
The BMPR2 mutations have been identified in a substantial portion of patients with familial or sporadic PPH.
|
12821254 |
2003 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic studies have identified that mutations within the gene BMPR2 on the long arm of chromosome 2 underlie familial PPH.
|
12621102 |
2003 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To determine whether mutations in the bone morphogenetic protein receptor 2 gene (BMPR2), initially reported in primary pulmonary hypertension, were present in patients with pulmonary arterial hypertension and scleroderma spectrum of disease.Methods.
|
12415595 |
2002 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The failure to find BMPR2 mutations in all families with familial PPH and in all patients with sporadic PPH suggests that other genes remain to be identified.
|
11817654 |
2001 |
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 |
The differences in biological activities among the BMPR-II mutants observed thus suggest that additional genetic and/or environmental factors may play critical roles in the pathogenesis of PPH.
|
12221115 |
2002 |
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 |
No mutation was detected in BMPR2 in the other 10 patients with IPAH.
|
18364108 |
2008 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
As PPH does not develop in all subjects with BMPR-II mutations, environmental or associated genetic factors may play a crucial role.
|
12503718 |
2002 |
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 |
Analysis of the BMPR2 gene revealed no exonic mutations in the probands with both PPH and HHT.
|
15065824 |
2004 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.
|
15775752 |
2005 |
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
We report the molecular spectrum of BMPR2 mutations in 47 additional families with PPH and in three patients with sporadic PPH.
|
11115378 |
2001 |
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 |