|
Pulmonary Veno-Occlusive Disease (disorder)
|
0.720 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
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 |
|
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 |
|
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 |
ORPHANET |
Four bone morphogenetic protein receptor II (BMPR2) mutations have been previously described in PVOD patients; in the current study we describe 2 additional cases of BMPR2 mutation in PVOD.
|
18626305 |
2008 |
|
Pulmonary Veno-Occlusive Disease (disorder)
|
0.720 |
CausalMutation
|
disease |
CLINVAR |
Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.
|
16429395 |
2006 |
|
Pulmonary Veno-Occlusive Disease (disorder)
|
0.720 |
GeneticVariation
|
disease |
ORPHANET |
The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH.
|
12446270 |
2003 |
|
Pulmonary Veno-Occlusive Disease (disorder)
|
0.720 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have previously demonstrated that low-dose lipopolysaccharide (LPS) is a potent stimulus for the development of PAH in the context of a genetic PAH mouse model of BMPR2 dysfunction.
|
30160594 |
2020 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Pulmonary arterial hypertension is related to mutations in the bone morphogenetic protein receptor type 2, pulmonary vascular dysfunction and is increasingly recognized as a systemic disease.
|
30632900 |
2020 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Pulmonary arterial hypertension (PAH) is characterized by pulmonary arterial endothelial cell (PAEC) dysfunction and apoptosis, pulmonary arterial smooth muscle cell (PASMC) proliferation, inflammation, vasoconstriction, and metabolic disturbances that include disrupted bone morphogenetic protein receptor (BMPR2)-peroxisome proliferator-activated receptor gamma (PPARγ) axis and DNA damage.
|
31815758 |
2020 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Documentation of the RNF213 p.Arg4810Lys variant, as well as already known pathogenic genes, such as BMPR2, can provide clinically relevant information for therapeutic strategies, leading to a personalized approach for the treatment of PAH.
|
31542298 |
2020 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Since the identification of BMPR2, which encodes a receptor in the transforming growth factor-β superfamily, the development of high-throughput sequencing approaches to identify novel causal genes has substantially advanced our understanding of the molecular genetics of PAH.
|
31406341 |
2020 |
|
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 |
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 |
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 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Altogether, this study sheds light on the basic mechanisms of BMPR2 degradation and highlights a crucial role for autophagy in PAH.© 2019 The Authors.
|
31257577 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
BMPR2 and FHIT expression were reduced in patients with PAH.
|
30107138 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Even in the absence of BMPR2 mutations, increased transforming growth factor (TGF)β receptor signalling and decreased BMPRII signalling have been shown to contribute to PAH pathogenesis.
|
30529762 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Using a BMPR2 transgenic murine model of PAH and two models of inducible diabetes mellitus, we explored the impact of hyperglycemia and/or hyperinsulinemia on development and severity of PH.
|
28704134 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Patients with pulmonary arterial hypertension (PAH) can harbor mutations in several genes, most commonly in BMPR2.
|
30134121 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In this study, we examined whether rats with the Bmpr2 mutation were susceptible to developing more severe PAH.
|
30586714 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Treatment with BMPR2-BM-ELPC attenuated PAH as demonstrated by a reduction in right ventricular hypertrophy as well as right ventricular systolic and mean pulmonary arterial pressures.
|
30977250 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Arterial remodeling-a hallmark of many cardiovascular pathologies including pulmonary arterial hypertension (PAH)-is regulated by TGFβ1 (transforming growth factor-β1)-TGFβ receptors and the antagonistic, vasoprotective BMPR2 (bone morphogenetic protein receptor 2)-PPARγ (peroxisome proliferator-activated receptor-γ) axis.
|
31023188 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
Here we show that the receptor BMP type 2 (BMPR2) serves as a central gatekeeper of this balance, highlighted by its deregulation in diseases such as pulmonary arterial hypertension (PAH).
|
31826007 |
2019 |
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Loss of function mutations in the type II BMP receptor BMPR2 are the leading cause of pulmonary arterial hypertension (PAH), a rare disease of vascular occlusion that leads to high blood pressure in the pulmonary arteries.
|
31797984 |
2019 |