KCNJ2 Facilitates Clear Cell Renal Cell Carcinoma Progression and Glucose Metabolism [PDF]
International Journal of GenomicsConclusion: KCNJ2 plays a crucial role in ccRCC progression through affecting glucose metabolism and immune responses. Our findings reveal the functional role of KCNJ2 in promoting tumor progression and metabolic reprogramming in ccRCC, highlighting its ...
Wei Liwei
exaly +5 more sources
Characterization of Loss-Of-Function KCNJ2 Mutations in Atypical Andersen Tawil Syndrome [PDF]
Frontiers in Genetics, 2021 Andersen-Tawil Syndrome (ATS) is a rare disease defined by the association of cardiac arrhythmias, periodic paralysis and dysmorphic features, and is caused by KCNJ2 loss-of-function mutations.
Pascal Amedro +2 more
exaly +5 more sources
Atrial arrhythmogenicity of KCNJ2 mutations in short QT syndrome: Insights from virtual human atria. [PDF]
PLoS Computational Biology, 2017 Gain-of-function mutations in KCNJ2-encoded Kir2.1 channels underlie variant 3 (SQT3) of the short QT syndrome, which is associated with atrial fibrillation (AF).
Dominic G Whittaker +4 more
doaj +19 more sources
Case Report of Andersen–Tawil Syndrome: Rare Presentation of a Rare Disease [PDF]
Annals of Indian Academy of NeurologyAndersen–Tawil syndrome (ATS) is a rare genetic disorder characterized by a triad of periodic paralysis, cardiac arrhythmias, and dysmorphic features, typically presenting in the first two decades of life.
Himanshu Shakya +4 more
doaj +2 more sources
Experimental mapping of the canine KCNJ2 and KCNJ12 gene structures and functional analysis of the canine KIR2.2 ion channel [PDF]
Frontiers in Physiology, 2012 For many model organisms traditionally in use for cardiac electrophysiological studies, characterization of ion channel genes is lacking. We focused here on two genes encoding the inward rectifier current, KCNJ2 and KCNJ12, in the dog heart.
Marien J.C. Houtman +7 more
doaj +2 more sources
Chamber-specific chromatin architecture guides functional interpretation of disease-associated Cis-regulatory elements in human cardiomyocytes [PDF]
Nature CommunicationsCis-regulatory elements (CREs) are noncoding DNA regions regulating cell-type-specific gene expression programs by interacting with distal gene promoters.
S. Haydar +15 more
doaj +2 more sources
124I‐labelled BMSC‐Derived Extracellular Vesicles Deliver CRISPR/Cas9 Ribonucleoproteins With a GFP‐Reporter System to Inhibit Osteosarcoma Proliferation and Metastasis [PDF]
Journal of Extracellular VesiclesMetastasis constitutes the principal factor leading to the unfavourable prognosis of osteosarcoma patients. Hypoxia, as the inherent microenvironment of osteosarcoma, can upregulate HIF‐1α via multiple pathways, thereby facilitating osteosarcoma ...
Yujie Pan +11 more
doaj +2 more sources
Genome-wide joint meta-analysis of SNP and SNP-by-smoking interaction identifies novel loci for pulmonary function. [PDF]
PLoS Genetics, 2012 Genome-wide association studies have identified numerous genetic loci for spirometic measures of pulmonary function, forced expiratory volume in one second (FEV(1)), and its ratio to forced vital capacity (FEV(1)/FVC).
Dana B Hancock +89 more
doaj +3 more sources
Gene and allele-specific expression during electric organ ontogeny in African weakly electric fish (Campylomormyrus) [PDF]
Communications BiologyThe African weakly electric fish use their muscle-derived electric organ to produce electric organ discharge (EOD) for electrocommunication and electrolocation.
Feng Cheng +6 more
doaj +2 more sources
Atypical presentation of Andersen-Tawil syndrome: heart failure with reduced ejection without periodic paralysis or dysmorphic features [PDF]
European Journal of Case Reports in Internal MedicineBackground: Andersen-Tawil syndrome (ATS) is a rare autosomal dominant disorder caused by variants in the KCNJ2 gene. It is associated with periodic paralysis, dysmorphic features and cardiac arrhythmias.
Mustafa Shehzad +5 more
doaj +2 more sources