|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Since its association with familial pulmonary arterial hypertension (PAH) in 2000, Bone Morphogenetic Protein Receptor II (BMPR2) and its related signaling pathway have become recognized as a key regulator of pulmonary vascular homeostasis.
|
30149506 |
2018 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.
|
28388887 |
2017 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In familial pulmonary arterial hypertension (FPAH), the autosomal dominant disease-causing BMPR2 mutation is only 20% penetrant, suggesting that genetic variation provides modifiers that alleviate the disease.
|
28017794 |
2017 |
|
Familial pulmonary arterial hypertension
|
0.400 |
Biomarker
|
disease |
BEFREE |
In humans, mutations in BMP receptor type 2 (BMPR2), a key component of BMP signaling, have been identified in the majority of patients with familial pulmonary arterial hypertension (PAH).
|
28356442 |
2017 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In conclusion, our results indicate that ER quality control (ERQC) is involved in the pathological mechanism of several BMPR2 receptor missense mutations causing FPAH, which can be explored as a potential therapeutic target in the future.
|
25688877 |
2015 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
The genetics of pulmonary arterial hypertension.
|
24951767 |
2014 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Most patients with familial pulmonary arterial hypertension (FPAH) carry mutations in the bone morphogenic protein receptor 2 gene (BMPR2).
|
22198906 |
2012 |
|
Familial pulmonary arterial hypertension
|
0.400 |
Biomarker
|
disease |
BEFREE |
The identification of mutations in the bone morphogenetic protein (BMP) type II receptor in the majority of cases of familial pulmonary arterial hypertension (PAH) has provided a focus for researchers studying the complex pathobiology of this condition.
|
20204735 |
2010 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The gene for the type 2 receptor for the bone morphogenic pathway, BMPR2, is mutated in a large majority of familial pulmonary arterial hypertension (PAH),.
|
20204736 |
2010 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Imputation of the disease model by LOD-score maximization indicates that the 3q22 locus alone predicts most FPAH cases in BMPR2 mutation carriers, providing strong evidence that BMPR2 and the 3q22 locus interact epistatically.
|
19864167 |
2010 |
|
Familial pulmonary arterial hypertension
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Our findings suggest that the levels of expression of WT BMPR2 allele transcripts is important in the pathogenesis of FPAH caused by NMD(+) mutations.
|
19206171 |
2009 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetics and genomics of pulmonary arterial hypertension.
|
19555857 |
2009 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in bone morphogenetic protein receptor type 2 (BMPR2) cause familial pulmonary arterial hypertension (FPAH), but the penetrance is reduced and females are significantly overrepresented.
|
19357154 |
2009 |
|
Familial pulmonary arterial hypertension
|
0.400 |
Biomarker
|
disease |
BEFREE |
Heterozygous germ line mutations in the gene encoding the bone morphogenetic protein (BMP) type II receptor occur in more than 80% of patients with familial pulmonary arterial hypertension.
|
18436795 |
2008 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The TGFbeta1 SNPs studied modulate age at diagnosis and penetrance of familial pulmonary arterial hypertension in BMPR2 mutation heterozygotes, likely by affecting TGFbeta/BMP signaling imbalance.
|
18496036 |
2008 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
In the Chinese pedigree with FPAH an A-to-T transition at position 1157 in exon 9 of the BMPR2 gene was identified which resulted in a Glu386Val mutation.
|
18364108 |
2008 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
The majority of familial pulmonary arterial hypertension (PAH) cases are caused by mutations in the type 2 bone morphogenetic protein receptor (BMPR2).
|
17322283 |
2007 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Germline mutations in the gene coding for the bone morphogenetic protein receptor II (BMPR2) are present in more than 70% of FPAH and up to 26% of idiopathic, apparently sporadic cases (IPAH).
|
17318011 |
2007 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To estimate the frequency of BMPR2 exonic deletions/duplications in FPAH.
|
16728714 |
2006 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Investigation of second genetic hits at the BMPR2 locus as a modulator of disease progression in familial pulmonary arterial hypertension.
|
15699281 |
2005 |
|
Familial pulmonary arterial hypertension
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the bone morphogenetic protein type II receptor gene (BMPR2) are the major genetic cause of familial pulmonary arterial hypertension (FPAH).
|
15845886 |
2005 |