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The impact of a secondary, rare, non-pathogenic PKD1 variant on disease progression in autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal dominant polycystic kidney disease (ADPKD) is caused primarily by pathogenic variants in the PKD1 and PKD2 genes. Although the type of ADPKD variant can influence disease severity, rare, hypomorphic PKD1 variants have also been reported to modify disease severity or cause biallelic ADPKD. This study examines whether rare, additional, potentially protein-altering, non-pathogenic PKD1 variants contribute to ADPKD phenotypic outcomes.
View Article and Find Full Text PDFAdenine base editor corrected ADPKD point mutations in hiPSCs and kidney organoids.
Adv Biotechnol (Singap)
June 2024
MOE Key Laboratory of Gene Function and Regulation, State Key Laboratory of Biocontrol, School of Life Sciences, Sun Yat-Sen University, Guangzhou, Guangdong, 510275, China.
Autosomal dominant polycystic kidney disease (ADPKD) is a dominant genetic disorder caused primarily by mutations in the PKD1 gene, resulting in the formation of numerous cysts and eventually kidney failure. However, there are currently no gene therapy studies aimed at correcting PKD1 gene mutations. In this study, we identified two mutation sites associated with ADPKD, c.
View Article and Find Full Text PDFPhenotypic outcomes of PKD1 compared with non-PKD1 genetically confirmed autosomal dominant polycystic kidney disease.
J Nephrol
January 2025
Department of Nephrology and Transplantation, Beaumont Hospital, Dublin, Ireland.
Background: Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the most common monogenic cause of kidney failure. While identifying genetic variants predicts disease progression, characterization of recently described ADPKD-like variants is limited. We explored disease progression and genetic spectrum of genetically-confirmed ADPKD families with PKD1 and non-PKD1 variants.
View Article and Find Full Text PDFThe Impact of Autosomal Dominant Polycystic Kidney Disease on the Presence of Cerebral Microbleeds: A Case-Control Matched Study.
Acad Radiol
January 2025
Department of Medical Imaging, National Taiwan University Hospital, Taipei, Taiwan (T.W.L., C.H.W.); Center of Minimal-Invasive Interventional Radiology, National Taiwan University Hospital, Taipei, Taiwan (C.H.W.); Hepatitis Research Center, National Taiwan University Hospital, Taipei, Taiwan (C.H.W.). Electronic address:
Rationale And Objectives: Individuals with autosomal dominant polycystic kidney disease (ADPKD) can present with diverse renal and extra-renal manifestations. Large vessel anomalies, such as cerebral aneurysms, are potentially fatal extra-renal manifestations. However, limited research has been conducted on cerebral small vessel disease (CSVD).
View Article and Find Full Text PDFCitrate in autosomal dominant polycystic kidney disease: biomarker or therapeutic agent?
Curr Opin Nephrol Hypertens
March 2025
Nephrology Division, Universidade Federal de São Paulo (UNIFESP), São Paulo, Brazil.
Purpose Of Review: This review highlights the latest findings regarding hypocitraturia in autosomal dominant polycystic kidney disease (ADPKD), from both experimental and clinical studies, exploring the underlying pathophysiology and potential therapeutic approach.
Recent Findings: Experimental studies have shown that the lodging of microcrystals in the tubules can trigger cyst formation and growth in polycystic kidney disease (PKD). ADPKD patients are prone to developing hypocitraturia in early stages, which could predispose to calcium microcrystal formation.
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