Varaico: Literature-Extracted Genetic Variants

Gene:KCNK3
Variant:p.G203D
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KCNK3

NM_002246.3:p.G203D

Associated Papers

Potassium Channels as Therapeutic Targets in Pulmonary Arterial Hypertension.

Redel-Traub G et al.

Biomolecules, 2022

Implication of Potassium Channels in the Pathophysiology of Pulmonary Arterial Hypertension.

Le Ribeuz H et al.

Biomolecules, 2020

TASK channels: channelopathies, trafficking, and receptor-mediated inhibition.

Inoue M et al.

Pflugers Archiv : European Journal of Physiology, 2020

A lower X-gate in TASK channels traps inhibitors within the vestibule.

Rödström KEJ et al.

Nature, 2020

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C

Characterization and regulation of wild-type and mutant TASK-1 two pore domain potassium channels indicated in pulmonary arterial hypertension.

Cunningham KP et al.

The Journal of Physiology, 2019

Exome data clouds the pathogenicity of genetic variants in Pulmonary Arterial Hypertension.

Abbasi Y et al.

Molecular Genetics & Genomic Medicine, 2018

Pulmonary artery hypertension in childhood: The transforming growth factor-β superfamily-related genes.

Yuan SM

Pediatrics and Neonatology, 2018

TASK-1 (KCNK3) channels in the lung: from cell biology to clinical implications.

Olschewski A et al.

The European Respiratory Journal, 2017

TALK-1 channels control β cell endoplasmic reticulum Ca2+ homeostasis.

Vierra NC et al.

Science Signaling, 2017

The Impact of Heterozygous KCNK3 Mutations Associated With Pulmonary Arterial Hypertension on Channel Function and Pharmacological Recovery.

Bohnen MS et al.

Journal of the American Heart Association, 2017

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

A burden of rare variants in BMPR2 and KCNK3 contributes to a risk of familial pulmonary arterial hypertension.

Higasa K et al.

Bmc Pulmonary Medicine, 2017

An homozygous mutation in KCNK3 is associated with an aggressive form of hereditary pulmonary arterial hypertension.

Navas Tejedor P et al.

Clinical Genetics, 2017

Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.

Molnár J et al.

Plos One, 2016

26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease

Pulmonary Arterial Hypertension: A Current Perspective on Established and Emerging Molecular Genetic Defects.

Machado RD et al.

Human Mutation, 2015

The role of acid-sensitive two-pore domain potassium channels in cardiac electrophysiology: focus on arrhythmias.

Decher N et al.

Pflugers Archiv : European Journal of Physiology, 2015

Genetics of pulmonary hypertension.

Best DH et al.

Current Opinion in Cardiology, 2014

KCNK3: new gene target for pulmonary hypertension?

Girerd B et al.

Expert Review of Respiratory Medicine, 2014

The genetic basis of pulmonary arterial hypertension.

Ma L et al.

Human Genetics, 2014

Genetics: Potassium channelopathy implicated in the pathogenesis of familial PAH.

Roberts A

Nature Reviews. Cardiology, 2013

A novel channelopathy in pulmonary arterial hypertension.

Ma L et al.

The New England Journal of Medicine, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."