Atomic-level investigation of KCNJ2 mutations associated with ventricular arrhythmic syndrome phenotypes [PDF]
Scientific ReportsKCNJ2 encodes the inward rectifying potassium channel (Kir2.1) that underlies I K1 which maintains the cardiac resting membrane potential and regulates excitability.
Saba Munawar +6 more
doaj +7 more sources
KCNJ2/HIF1α positive-feedback loop promotes the metastasis of osteosarcoma
Cell Communication and Signaling, 2023 Background Early metastasis is a hallmark of osteosarcoma (OS), a highly common type of malignant tumor. Members of the potassium inwardly rectifying channel family exert oncogenic effects in various cancers.
Mao Shen +7 more
doaj +3 more sources
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2 [PDF]
Journal of Medical Genetics, 2007 Background: The Pierre Robin sequence (PRS), consisting of cleft palate, micrognathia and glossoptosis, can be seen as part of the phenotype in other Mendelian syndromes—for instance, campomelic dysplasia (CD) which is caused by SOX9 mutations—but the aetiology of non-syndromic PRS has not yet been unravelled.
Jakobsen, L.P. +10 more
openaire +4 more sources
Andersen–Tawil Syndrome With Novel Mutation in KCNJ2: Case Report [PDF]
Frontiers in Pediatrics, 2022 Andersen–Tawil syndrome (ATS) is a rare autosomal dominant disorder characterized by a classic symptom triad: periodic paralysis, ventricular arrhythmias associated with prolonged QT interval, and dysmorphic skeletal and facial features.
Jisook Yim +6 more
doaj +3 more sources
Rare variants at KCNJ2 are associated with LDL-cholesterol levels in a cross-population study
npj Genomic MedicineLeveraging whole genome sequencing data of 1751 individuals from the UK and 2587 Qatari subjects, we suggest here an association of rare variants mapping to the sour taste-associated gene KCNJ2 with reduced low-density lipoprotein cholesterol (LDL-C, P =
Niccolò Rossi +9 more
doaj +6 more sources
Modelling the effects of chloroquine onKCNJ2-linked short QT syndrome [PDF]
Oncotarget, 2017 A gain-of-function KCNJ2 D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death. Anti-malarial drug chloroquine was reported as an effective inhibitor of Kir2.1 channels. Using biophysically-detailed human ventricle computer models,
Luo, Cunjin +2 more
core +14 more sources
Journal of Pharmacological Sciences, 2017 Human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes hold great potentials to predict pro-arrhythmic risks in preclinical cardiac safety screening, although the hiPSC cardiomyocytes exhibit rather immature functional and structural ...
Min Li +9 more
doaj +2 more sources
Patients with Dilated Cardiomyopathy and Sustained Monomorphic Ventricular Tachycardia Show Up-Regulation of KCNN3 and KCNJ2 Genes and CACNG8-Linked Left Ventricular Dysfunction. [PDF]
PLoS ONE, 2015 Disruptions in cardiac ion channels have shown to influence the impaired cardiac contraction in heart failure. We sought to determine the altered gene expression profile of this category in dilated cardiomyopathy (DCM) patients and relate the altered ...
Ana Ortega +10 more
doaj +3 more sources
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome) [PDF]
Journal of Clinical Investigation, 2002 Andersen syndrome (AS) is a rare, inherited disorder characterized by periodic paralysis, long QT (LQT) with ventricular arrhythmias, and skeletal developmental abnormalities. We recently established that AS is caused by mutations in KCNJ2, which encodes the inward rectifier K(+) channel Kir2.1.
M. Tristani Firouzi +12 more
openaire +3 more sources
Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome [PDF]
HeartRhythm Case Reports, 2017 Kathleen R Maginot +2 more
exaly +5 more sources