|
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 |
Biomarker
|
disease |
BEFREE |
Fine mapping of PPH1, a gene for familial primary pulmonary hypertension, to a 3-cM region on chromosome 2q33.
|
10712363 |
2000 |
|
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 |
Biomarker
|
disease |
BEFREE |
A physical and transcript map based upon refinement of the critical interval for PPH1, a gene for familial primary pulmonary hypertension. The International PPH Consortium.
|
10964520 |
2000 |
|
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 |
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 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Most patients with familial primary pulmonary hypertension have defects in the gene for bone morphogenetic protein receptor II (BMPR2), a member of the transforming growth factor beta (TGF-beta) superfamily of receptors.
|
11484689 |
2001 |
|
Familial primary pulmonary hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Defects within bone morphogenetic protein receptor type II gene, coding for a receptor member of the transforming growth factor-beta family, underlie familial primary pulmonary hypertension.
|
12358355 |
2002 |
|
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 |
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 |
Approximately 50% of patients with familial primary pulmonary hypertension (FPPH) have been reported to have mutations within the bone morphogenic protein receptor type 2 (BMPR2) gene.
|
15775752 |
2005 |
|
Familial primary pulmonary hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Recently, a cause for familial primary pulmonary hypertension (FPPH) has been identified as mutations in the gene encoding BMPR2.
|
16282533 |
2006 |
|
Familial primary pulmonary hypertension
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Genetics and genomics of pulmonary arterial hypertension.
|
19555857 |
2009 |
|
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 |
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 |
Heritable pulmonary arterial hypertension (HPAH) is primarily caused by mutations of the bone morphogenetic protein (BMP) type-II receptor (BMPR2).
|
21920918 |
2011 |
|
Familial primary pulmonary hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mutations in the bone morphogenetic protein (BMP) type II receptor (BMPR-II) underlie most cases of heritable pulmonary arterial hypertension (HPAH) and a significant proportion of sporadic cases.
|
22227206 |
2012 |
|
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 |
Eighteen BMPR2 mutation carriers and 7 ALK1 mutation carriers were detected in the 54 patients with childhood IPAH or HPAH.
|
22632830 |
2012 |
|
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 |
Biomarker
|
disease |
BEFREE |
Role of BMPR2 alternative splicing in heritable pulmonary arterial hypertension penetrance.
|
22923426 |
2012 |
|
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 |
Exonic deletions of BMPR2 account for at least part of BMPR2 mutations associated with heritable pulmonary arterial hypertension in Japan, as previously reported in other populations.
|
23579436 |
2013 |
|
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 |
Biomarker
|
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 |