Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
HPO |
|
|
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
Idiopathic pulmonary arterial hypertension
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
KCNK3 mRNA level is also reduced in human RV tissues from PAH patients compared to non-PAH patients.
|
29360952 |
2018 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.
|
28388887 |
2017 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
ET-1-mediated inhibition of TASK1 currents in hPASMC is implicated in the pathophysiology of PAH.
|
21838752 |
2012 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Five additional heterozygous missense variants in KCNK3 were independently identified in 92 unrelated patients with familial pulmonary arterial hypertension and 230 patients with idiopathic pulmonary arterial hypertension.
|
23883380 |
2013 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, mutations in KCNK3 have been identified as a rare cause of both familial and idiopathic pulmonary arterial hypertension.
|
29122916 |
2017 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
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 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Homomeric and heterodimeric mutant KCNK3 channels represent novel therapeutic substrates in PAH.
|
28889099 |
2017 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In 2013, KCNK3 (TASK1), which encodes a type of two-pore domain potassium channel, was shown to be a predisposing gene for PAH by genetic mutation, and it was added to the PAH classification at the Fifth World Symposium on Pulmonary Hypertension (Nice International Conference).
|
27826710 |
2017 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In heritable PAH, bone morphogenetic protein receptor type II mutations may be absent; while mutations of other genes, such as type I receptor activin receptor-like kinase 1 and the type III receptor endoglin (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 and KCNK3, the gene encoding potassium channel subfamily K, member 3, can be detected, instead.
|
28967497 |
2018 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In the past 6 years, additional pathways involved in PAH susceptibility have been described through the identification of deleterious genetic variants in potassium channels (KCNK3 and ABCC8) and transcription factors (TBX4 and SOX17), among others.
|
31406341 |
2020 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
In the present study, HPASMCs were transfected with miR‑138 mimic to establish a PAH model in vitro, and the effects of a miR‑138 inhibitor and a TASK‑1 inhibitor (A293) were examined.
|
29257242 |
2018 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Less commonly mutations in ALK1, CAV1, ENG, and SMAD9, and newly discovered mutations in KCNK3, may cause heritable PAH.
|
24267296 |
2013 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Since the landmark discovery that bone morphogenetic protein receptor type II (BMPR2) mutations cause the majority of cases of familial PAH, investigators have discovered mutations in genes that cause PAH in families without BMPR2 mutations, including the type I receptor ACVRL1 and the type III receptor ENG (both associated with hereditary hemorrhagic telangiectasia), caveolin-1 (CAV1), and a gene (KCNK3) encoding a two-pore potassium channel.
|
25159282 |
2014 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to characterize the genetics of a Spanish cohort of patients with idiopathic and hereditary pulmonary arterial hypertension and to describe the phenotype and prognostic factors associated with BMPR2 and the new genes (KCNK3 and TBX4).
|
27453251 |
2016 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The description of the genetic architecture of PAH is accelerating in parallel, with novel variants, such as those reported in potassium two-pore domain channel subfamily K member 3 (KCNK3), adding to the list of more established mutations in genes associated with bone morphogenetic protein receptor type 2 (BMPR2) signalling.
|
28524624 |
2017 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The present report supports the contribution of KCNK3 mutations to the genetic etiology of PAH and strongly suggests that mutations in KCNK3 follow incomplete dominance with worsening of the clinical features in homozygous patients.
|
27649371 |
2017 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The present study aimed to characterize the functional properties and regulation of wild-type (WT) and mutated TASK-1 channels and determine how these might contribute to PAH and its treatment.
|
30365877 |
2019 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This discovery represents an important advance for genetic counselling, allowing identification of high risk relatives for PAH and possible screening for PAH in KCNK3 mutation carriers.
|
24742047 |
2014 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that KCNK3 expression and function were reduced in human PAH and in monocrotaline-induced PH in rats.
|
26912814 |
2016 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
We have demonstrated that KCNK3 dysfunction is common to heritable and nonheritable pulmonary arterial hypertension and to experimental pulmonary hypertension (PH).
|
31347976 |
2019 |
Idiopathic pulmonary arterial hypertension
|
0.700 |
Biomarker
|
disease |
BEFREE |
While there is compelling evidence that TASK-1 is involved in the pathogenesis of pulmonary arterial hypertension in humans, the mouse does not appear to serve as a suitable model to study the underlying molecular mechanisms.
|
28301582 |
2017 |