|
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The sporadic form of PPH is associated with germline mutations of the gene encoding the receptor protein BMPR-II in at least 26% of cases.
|
11015450 |
2000 |
|
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 |
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 |
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 |
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 |
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 finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH.
|
12446270 |
2003 |
|
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 |
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 |
Mutations in this gene, now known to be bone morphogenetic protein receptor 2 (BMPR2), can cause PPH.
|
12708784 |
2003 |
|
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 |
Biomarker
|
disease |
BEFREE |
This study identifies the first function of the BMPR-II tail domain and suggests that the deregulation of actin dynamics may contribute to the etiology of PPH.
|
12963706 |
2003 |
|
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 |
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 |
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 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 |
Gross BMPR2 gene rearrangements constitute a new cause for primary pulmonary hypertension.
|
15775752 |
2005 |
|
Idiopathic pulmonary hypertension
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
BMPR2 mutations have short lifetime expectancy in primary pulmonary hypertension.
|
15965979 |
2005 |
|
Idiopathic pulmonary hypertension
|
0.600 |
Biomarker
|
disease |
MGD |
To understand the role of BMPR2 in the development of IPAH, we examined the phenotype of BMPR2(+/-) mice and their response to inflammatory stress.
|
16027259 |
2005 |
|
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 |
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 |
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 |
No mutation was detected in BMPR2 in the other 10 patients with IPAH.
|
18364108 |
2008 |
|
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 |