|
Pulmonary Veno-Occlusive Disease (disorder)
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
BMPR2 mutation was occasionally reported in pulmonary veno-occlusive disease, appetite suppressant-related pulmonary arterial hypertension (PAH), and PAH with congenital heart disease.
|
24728306 |
2014 |
|
Pulmonary Veno-Occlusive Disease (disorder)
|
0.720 |
GeneticVariation
|
disease |
BEFREE |
Genetic causes of pulmonary arterial hypertension (PAH) and pulmonary veno-occlusive disease (PVOD) have been identified, leading to a growing need for genetic counselling.Between 2003 and 2014, genetic counselling was offered to 529 PAH and 100 PVOD patients at the French Referral Centre for Pulmonary Hypertension.Mutations in PAH-predisposing genes were identified in 72 patients presenting as sporadic PAH (17% of cases; 62 mutations in BMPR2, nine in ACVRL1 (ALK1) and one in ENG) and in 94 patients with a PAH family history (89% of cases; 89 mutations in BMPR2, three in ACVRL1 (ALK1) and two in KCNK3).
|
26699722 |
2016 |
|
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 |
Biomarker
|
disease |
BEFREE |
Ectopic FBN1 deposits were also found in proximity to contractile intimal cells in pulmonary artery lesions of BMPR2-deficient heritable PAH (HPAH) patients.
|
31826007 |
2019 |
|
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 |
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 |
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 |
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 |
Biomarker
|
disease |
BEFREE |
Here, we characterize the expression and trafficking of an HPAH-associated NMD negative BMPR2 mutation that results in an in-frame deletion of BMPR2 EXON2 (BMPR2ΔEx2) in HPAH patient-derived lymphocytes and in pulmonary endothelial cells (PECs) from mice carrying the same in-frame deletion of Exon 2 (Bmpr2 (ΔEx2/+) mice).
|
24224048 |
2013 |
|
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 |
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 |
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 |