|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension.
|
10973254 |
2000 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
De novo mutations in the BMPR2 gene in patients with heritable pulmonary arterial hypertension.
|
25612240 |
2015 |
|
Familial primary pulmonary hypertension
|
0.700 |
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 |
|
Familial primary pulmonary hypertension
|
0.700 |
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 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Familial primary pulmonary hypertension (gene PPH1) is caused by mutations in the bone morphogenetic protein receptor-II gene.
|
10903931 |
2000 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Here, we tested ataluren in lung- or blood-derived cells from patients with HPAH with nonsense mutations in BMPR2 (n = 6) or SMAD9 (n = 1).
|
23590310 |
2013 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This is the first demonstration of aminoglycoside-mediated 'repair' of a BMPR2 mutation at the protein level in patient-derived cells and has obvious implications for treatment of HPAH where no disease-specific treatment options are available.
|
20095988 |
2010 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Two family members who carried the BMPR2 mutation only did not develop manifest HPAH.
|
27809840 |
2016 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To explore this, we isolated PECs from mice carrying heterozygous null Bmpr2 mutations (Bmpr2(+/-)) similar to those found in the majority of HPAH patients.
|
25411245 |
2015 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heritable pulmonary arterial hypertension (PAH) is one such disorder characterised by rare mutations mostly occurring in the bone morphogenetic protein receptor type 2 (<i>BMPR2</i>) gene and a wide heterogeneity of penetrance modifier mechanisms.
|
30894412 |
2019 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germline mutations of the bone morphogenetic protein type II receptor (BMPR2) gene BMPR2 are the most important predisposing factors for heritable pulmonary arterial hypertension.
|
24728306 |
2014 |
|
Familial primary pulmonary hypertension
|
0.700 |
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 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To analyze the pedigrees of families with mutations in bone morphogenetic protein receptor type 2 (BMPR2), afflicted in two or more generations with HPAH, eliminating time truncation bias by including families for whom we have at least 57 years of data.
|
22923661 |
2012 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Truncating and missense BMPR2 mutations differentially affect the severity of heritable pulmonary arterial hypertension.
|
19785764 |
2009 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous germ-line mutations in the bone morphogenetic protein type-II receptor (BMPR-II) gene underlie heritable pulmonary arterial hypertension (HPAH).
|
28084316 |
2017 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Identification of a new intronic BMPR2-mutation and early diagnosis of heritable pulmonary arterial hypertension in a large family with mean clinical follow-up of 12 years.
|
24621962 |
2014 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Site-directed mutagenesis reveals that BMPR2 is uniquely glycosylated near its ligand binding domain and at a position that is mutated in patients with heritable pulmonary arterial hypertension.
|
24337809 |
2014 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of the type II receptor BMPR2 underlie familial primary pulmonary hypertension.
|
14684682 |
2003 |
|
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 |
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 |