Early diagnostic biomarkers for acute myocardial infarction unveiled by metabolomics, Mendelian randomization, and machine learning [PDF]
Molecular BiomedicineAcute myocardial infarction (AMI) remains a leading cause of global cardiovascular morbidity and mortality. Limitations in current diagnostic methods hinder early detection and intervention, creating an urgent need for novel early diagnostic biomarkers ...
Hao Fan +10 more
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Identification and functional characterization of glycosyltransferase-related biomarkers for tuberculosis diagnosis [PDF]
AMB ExpressTuberculosis (TB) is an infectious disease that presents a serious risk to public health. Glycosyltransferase-related genes (GTRGs) are instrumental in assessing the risk of latent tuberculosis infection progressing to active TB.
Yibiao Zhang +4 more
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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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A case report of Andersen-Tawil syndrome misdiagnosed with myodystrophy
Frontiers in Neurology, 2023 Andersen-Tawil syndrome (ATS) is a rare periodic paralysis caused by the KCNJ2 gene mutation. Here, we report on an ATS patient misdiagnosed with myodystrophy.
Xiuqin Zhao, Hengbing Zu, Kai Yao
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Multiple Promoter Elements Interact to Control the Transcription of the Potassium Channel Gene, KCNJ2 [PDF]
Journal of Biological Chemistry, 1998 Potassium channels play important roles in shaping the electrical properties of excitable cells. Toward understanding the transcriptional regulation of a member of the inwardly rectifying potassium channel family, we have characterized the genomic structure and 5'-proximal promoter of the murine Kcnj2 gene (also referred to as IRK1 and Kir2.1).
J B, Redell, B L, Tempel
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KCNJ2 Facilitates Clear Cell Renal Cell Carcinoma Progression and Glucose Metabolism [PDF]
International Journal of GenomicsWei Liwei
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Gene panel analysis of 119 index patients with suspected periodic paralysis in Japan
Frontiers in Neurology, 2023 IntroductionGenetic factors are recognized as the major reason for patients with periodic paralysis. The goal of this study was to determine the genetic causes of periodic paralysis in Japan.MethodsWe obtained a Japanese nationwide case series of 119 ...
Jun-Hui Yuan +8 more
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A Novel Form of Short QT Syndrome (SQT3) Is Caused by a Mutation in the KCNJ2 Gene [PDF]
Circulation Research, 2005 Short QT syndrome (SQTS) leads to an abbreviated QTc interval and predisposes patients to life-threatening arrhythmias. To date, two forms of the disease have been identified: SQT1, caused by a gain of function substitution in the HERG ( I Kr ) channel, and SQT2, caused by a gain of function substitution
Priori, SG +12 more
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Abstract 2257: KCNJ2 Mutations in Patients Referred for Catecholaminergic Polymorphic Ventricular Tachycardia Gene Screening [PDF]
Circulation, 2007 Background : Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmogenic disease characterized by adrenergically mediated polymorphic or bidirectional ventricular tachycardia (BVT). Andersen-Tawil syndrome (ATS1), which are mainly caused by KCNJ2 mutations, phenocopies ...
Yanfei Ruan +7 more
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Communications Biology, 2023 Uncovering gene-phenotype relationships can be enabled by precise gene modulation in human induced pluripotent stem-cell-derived cardiomyocytes (iPSC-CMs) and follow up phenotyping using scalable all-optical electrophysiology platforms.
Julie L. Han +4 more
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