Idiopathic pulmonary arterial hypertension
|
0.100 |
Biomarker
|
disease |
BEFREE |
BMPRII deficiency impairs apoptosis via the BMPRII-ALK1-BclX-mediated pathway in pulmonary arterial hypertension.
|
30809644 |
2019 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
Biomarker
|
disease |
BEFREE |
Together, these findings suggest that the BMP receptor type II/ALK-1/SMAD/ATOH8 axis may attenuate hypoxic responses in ECs in the pulmonary circulation and may help prevent the development of PAH.
|
31719172 |
2019 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
Biomarker
|
disease |
BEFREE |
To determine whether the TGF-β/ALK1/ENG pathway was involved in PAH, we investigated pulmonary TGF-β, ALK1, ALK5, and ENG expressions in human lung tissue and cultured pulmonary-artery smooth-muscle-cells (PA-SMCs) and pulmonary endothelial cells (PECs) from 14 patients with idiopathic PAH (iPAH) and 15 controls.
|
24956016 |
2014 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to analyze the Bone Morphogenetic Protein Receptor 2 (BMPR2), Activin A type II receptor like kinase 1 (ALK1/ACVRL1) and potassium voltage-gated channel, shakerrelated subfamily, member 5 (KCNA5) genes in patients with idiopathic and associated PAH.
|
24936649 |
2014 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We studied a family in which multiple members had pulmonary arterial hypertension without identifiable mutations in any of the genes known to be associated with the disease, including BMPR2, ALK1, ENG, SMAD9, and CAV1.
|
23883380 |
2013 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
Biomarker
|
disease |
BEFREE |
Among them, the identification of bone morphogenetic protein receptor type 2 (BMPR2) as the major predisposing gene and activin A receptor type II-like kinase-1 (ACVRL1, also known as ALK1) as the major gene when PAH is associated with hereditary hemorrhagic telangiectasia.
|
24355637 |
2013 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Outcomes of childhood pulmonary arterial hypertension in BMPR2 and ALK1 mutation carriers.
|
22632830 |
2012 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
This report highlights ALK1 mutations associated with a variable PAH phenotype, including pulmonary arteriovenous malformations and severe PAH presenting early in life.
|
19357124 |
2009 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Defective TGF-beta signaling in endothelial cells attributable to mutations in endoglin or the type I receptor ALK-1 leads to hereditary hemorrhagic telangiectasia, whereas defective BMP signaling attributable to mutations in the BMP receptor II has been associated with development of primary pulmonary hypertension.
|
16675726 |
2006 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutations in the gene that codes for activin receptor-like kinase (ALK 1), another transforming growth factor beta (TGF-beta) cell surface receptor, appear responsible for the rare occurrence of pulmonary arterial hypertension in patients with hereditary hemorrhagic telangiectasia.
|
16121312 |
2005 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Exonic mutations in BMPR2 are found in about 50% of patients with familial PAH, and ALK1 mutations are found in a minority of patients with hereditary hemorrhagic telangiectasia and co-existent PAH.
|
15194176 |
2004 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in a second gene, ALK-1, present in families with hereditary hemorrhagic telangiectasia type 2, also causes PPH.
|
12708784 |
2003 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The association of pulmonary arterial hypertension and HHT identifies an important disease complication and appears most common among subjects with defects in ALK-1 receptor signalling.
|
14684682 |
2003 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in BMPR2 and ALK-1, genes that encode members of the transforming growth factor-beta (TGF-beta) receptor superfamily, have been found in patients with primary pulmonary hypertension.
|
11869166 |
2002 |
Idiopathic pulmonary arterial hypertension
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in ALK1, a TGF-beta type 1 receptor, previously known to cause type 2 hereditary haemorrhagic telangiectasia (HHT), have also been reported in a few HHT families with clinical and histological features of PPH.
|
11817654 |
2001 |