Results 11 to 20 of about 6,365 (192)
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 +5 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
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
Flecainide treats a novel KCNJ2 mutation associated with Andersen-Tawil syndrome [PDF]
HeartRhythm Case Reports, 2017 Lee L Eckhardt
exaly +5 more sources
Stem Cell Research & Therapy, 2023 Background Although human-induced pluripotent stem cell-derived cardiomyocytes (iPSC-CMs) are a promising cell resource for cardiovascular research, these cells exhibit an immature phenotype that hampers their potential applications.
Jingjun Zhou +15 more
doaj +3 more sources
Predicting gene expression changes from chromatin structure modification [PDF]
npj Systems Biology and ApplicationsSpatial organization of chromatin plays a critical role in gene transcription, but connecting population-averaged HiC data to functional outcomes remains a challenge.
Swayamshree Senapati +3 more
doaj +2 more sources
When the U Wave Tells the Story: Andersen–Tawil Syndrome Unmasked [PDF]
Annals of Noninvasive ElectrocardiologyA 26‐year‐old woman with recurrent syncope was diagnosed with Andersen‐Tawil syndrome (ATS) following abnormal electrocardiographic (ECG) findings.
Shasha Yu, Hang Lv
doaj +2 more sources
Indian Pacing and Electrophysiology Journal, 2006 Andersen-Tawil syndrome (ATS) is a rare condition consisting of ventricular arrhythmias, periodic paralysis, and dysmorphic features. In 2001, mutations in KCNJ2, which encodes the α subunit of the potassium channel Kir2.1, were identified in patients ...
Andrew H. Smith +2 more
doaj +2 more sources
Characterization of a novel, dominant negative KCNJ2 mutation associated with Andersen-Tawil syndrome [PDF]
Channels, 2011 Andersen-Tawil syndrome is characterized by periodic paralysis, ventricular ectopy and dysmorphic features. Approximately 60% of patients exhibit loss-of-function mutations in KCNJ2, which encodes the inwardly rectifying K(+) channel pore forming subunit
Cucilich, Phillip S +3 more
core +6 more sources
Depolarization induces calcium-dependent BMP4 release from mouse embryonic palate mesenchymal cells [PDF]
Nature CommunicationsBone Morphogenetic Protein (BMP) signaling is essential for craniofacial development, though little is known about the mechanisms that govern BMP secretion.
Mikaela L. Follmer +6 more
doaj +2 more sources