|
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 |
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 |
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 |
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 |
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 |
Homomeric and heterodimeric mutant KCNK3 channels represent novel therapeutic substrates in PAH.
|
28889099 |
2017 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
Familial primary pulmonary hypertension
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the KCNK3 gene have been identified in some patients suffering from heritable pulmonary arterial hypertension (PAH).
|
26912814 |
2016 |
|
Familial primary pulmonary hypertension
|
0.640 |
GeneticVariation
|
disease |
BEFREE |
Heritable pulmonary arterial hypertension (PAH) is an autosomal dominant disease with incomplete penetrance because of mutations in bone morphogenetic protein receptor-II (BMPR2), activin A receptor type II-like kinase 1, endoglin, caveolin-1, potassium channel subfamily K, member 3, and T-box gene 4 genes.
|
28661905 |
2017 |
|
PULMONARY HYPERTENSION, PRIMARY, 4
|
0.600 |
GeneticVariation
|
disease |
CLINVAR |
|
|
|
|
PULMONARY HYPERTENSION, PRIMARY, 4
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
A novel channelopathy in pulmonary arterial hypertension.
|
23883380 |
2013 |
|
Pulmonary arterial hypertension
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension.
|
27649371 |
2017 |
|
Pulmonary arterial hypertension
|
0.460 |
GeneticVariation
|
disease |
BEFREE |
Characterization and regulation of wild-type and mutant TASK-1 two pore domain potassium channels indicated in pulmonary arterial hypertension.
|
30365877 |
2019 |
|
Cerebrovascular accident
|
0.400 |
GeneticVariation
|
group |
GWASCAT |
Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes.
|
29531354 |
2018 |
|
Idiopathic pulmonary hypertension
|
0.320 |
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 hypertension
|
0.320 |
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 |
|
Familial pulmonary arterial hypertension
|
0.320 |
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 |
|
Familial pulmonary arterial hypertension
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.
|
28388887 |
2017 |
|
Hypertensive disease
|
0.190 |
GeneticVariation
|
group |
BEFREE |
Hemodynamic and Pathologic Characterization of the TASK-1<sup>-/-</sup> Mouse Does Not Demonstrate Pulmonary Hypertension.
|
29109948 |
2017 |