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Adenine base editor corrected ADPKD point mutations in hiPSCs and kidney organoids
Autosomal dominant polycystic kidney disease (ADPKD) is a dominant genetic disorder caused primarily by mutations in the PKD1 gene, resulting in the...
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A long-read sequencing and SNP haplotype-based novel preimplantation genetic testing method for female ADPKD patient with de novo PKD1 mutation
The autosomal dominant form of polycystic kidney disease (ADPKD) is the most common hereditary disease that causes late-onset renal cyst development...
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Identified eleven exon variants in PKD1 and PKD2 genes that altered RNA splicing by minigene assay
BackgroundAutosomal dominant polycystic kidney disease (ADPKD) is a common monogenic multisystem disease caused primarily by mutations in the PKD1 ...
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Kidney Disease and Proteomics: A Recent Overview of a Useful Tool for Improving Early Diagnosis
Kidney disease is a critical and potentially life-threatening degenerative condition that poses a significant global public health challenge due to...
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The tyrosine-kinase inhibitor Nintedanib ameliorates autosomal-dominant polycystic kidney disease
Autosomal-dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disease and is characterized by progressive growth of...
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Metabolic derangement in polycystic kidney disease mouse models is ameliorated by mitochondrial-targeted antioxidants
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by progressively enlarging cysts. Here we elucidate the interplay between...
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Super-enhancer-driven metabolic reprogramming promotes cystogenesis in autosomal dominant polycystic kidney disease
Metabolic reprogramming is emerging as a key pathological contributor to the progression of autosomal dominant polycystic kidney disease (ADPKD), but...
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Phosphorylation of MIF by PIP4K2a is necessary for cilia biogenesis
Primary cilia are microtubule-based organelles that play important roles in development and tissue homeostasis. Macrophage migration inhibitory...
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MethylC-analyzer: a comprehensive downstream pipeline for the analysis of genome-wide DNA methylation
DNA methylation is a crucial epigenetic modification involved in multiple biological processes and diseases. Current approaches for measuring...
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Holistic expression of miR-17-92 cluster in obesity, kidney diseases, cardiovascular diseases, and diabetes
miR-17-92 cluster encodes six micro RNAs (miRNAs) and plays a crucial role in the regulation of various cellular processes. Aberrant expression of...
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Primary cilia suppress Ripk3-mediated necroptosis
Cilia are sensory organelles that project from the surface of almost all cells. Nephronophthisis (NPH) and NPH-related ciliopathies are degenerative...
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Chronic Kidney Disease: Challenges in Translational Medicine
Chronic kidney disease (CKD) has long been recognized as a state of progressive decline in renal function. Morbidity and mortality are well...
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Quantitative Systems Toxicology and Drug Development: The DILIsym Experience
DILIsym® is a Quantitative Systems Toxicology (QST) model that has been developed over the last decade by a public-private partnership to predict the...
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Saikosaponin-d inhibits proliferation by up-regulating autophagy via the CaMKKβ–AMPK–mTOR pathway in ADPKD cells
Autosomal dominant polycystic kidney disease (ADPKD) is a common heritable human disease. Recently, the role of repressed autophagy in ADPKD has...
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Role of ferroptosis in chronic kidney disease
Chronic kidney disease (CKD) has historically been a significant global health concern, profoundly impacting both life and well-being. In the process...
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Recent findings on the role of microRNAs in genetic kidney diseases
BackgroundMicroRNAs (miRNAs) are non-coding, endogenous, single-stranded, small (21–25 nucleotides) RNAs. Various target genes at the...
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Metabolomics: From Scientific Research to the Clinical Diagnosis
Metabolomics supports uncovering relevant pathophysiological mechanisms and identifying biomarkers of risk and progression in diseases. Furthermore,...
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Changes of urine isolates of Escherichia coli and Klebsiella pneumoniae biofilm affect monocytes’ response
The Gram negative rods as Escherichia coli and Klebsiella pneumoniae belong to the most common etiology agents of urinary tract infections. The aim...
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Proteomic signature associated with chronic kidney disease (CKD) progression identified by data-independent acquisition mass spectrometry
BackgroundHalting progression of chronic kidney disease (CKD) to established end stage kidney disease is a major goal of global health research. The...
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Investigation of APE1 and OGG1 expression in chronic hemodialysis patients
BackgroundThe role of DNA repair mechanisms is of significant importance in diseases characterized by elevated oxidative DNA damage, such as chronic...