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 ...
Qiyue Zhao +8 more
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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
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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
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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
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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.
Pauline Le Tanno +13 more
doaj +3 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
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
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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
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