ArticleJCI insight2018
Hnf4a deletion in the mouse kidney phenocopies Fanconi renotubular syndrome.
Article in JCI insight, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
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Who cites it
47 citing papers in PubMed.
- HNF4A maintains proximal tubule identity and limits injury-associated cell states in the adult mouse kidney.bioRxiv : the preprint server for biology · 2026Article
- Phenotypic Spectrum of HNF4α-Associated Fanconi Renotubular Syndrome.Kidney international reports · 2026Article
- Megalin (LRP2), prenatal betamethasone, and injury susceptibility in the developing kidney.bioRxiv : the preprint server for biology · 2026Article
- Article
- Testosterone Exposure During Fetal Masculinization Programming Window Determines the Kidney Size in Adult Mice.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2026Article
- A knock inbioRxiv : the preprint server for biology · 2026Article
- Enhanced Expression of the Female-Biased Gene Gsta2 in Male Proximal Tubule Cells Improves Renal Resilience to Ischemia-Reperfusion Injury.Journal of the American Society of Nephrology : JASN · 2026Article
- Toward Combinatorial Strategies to Improve Proximal Tubule Recovery Following Acute Kidney Injury.Seminars in nephrology · 2026Review
- Defects in nephrogenesis result in an expansion of the Foxd1+ stromal progenitor population.Development (Cambridge, England) · 2026Article
- Review
- Rac1 promotes proximal tubule kidney repair by coupling the actin cytoskeleton to mitochondrial function.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- Proximal Tubule Cells Contribute to the Thin Descending Limb of the Loop of Henle during Mouse Kidney Development.Journal of the American Society of Nephrology : JASN · 2025Article
- Windows of susceptibility to neonatal acute kidney injury and nephron loss in a rabbit model.Scientific reports · 2025Article
- Lysine-specific demethylase 1a is obligatory for gene regulation during kidney development.bioRxiv : the preprint server for biology · 2025Article
- Conserved patterns of transcriptional dysregulation, heterogeneity, and cell states in clear cell kidney cancer.Cell reports · 2025Article
- Uncovering Potential Biomarkers and Constructing a Prediction Model Associated with Iron Metabolism in Parkinson's Disease.Neuropsychiatric disease and treatment · 2025Article
- Genome-wide DNA methylation analysis identifies kidney epigenetic dysregulation in a cystinosis mouse model.Frontiers in cell and developmental biology · 2025Article
- Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.Nature genetics · 2024Article
- Variants in tubule epithelial regulatory elements mediate most heritable differences in human kidney function.bioRxiv : the preprint server for biology · 2024Article
- Efficacy of Trametinib in Alleviating Cisplatin-Induced Acute Kidney Injury: Inhibition of Inflammation, Oxidative Stress, and Tubular Cell Death in a Mouse Model.Molecules (Basel, Switzerland) · 2024Article
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5 authors.
Funding
Abstract
Different nephron tubule segments perform distinct physiological functions, collectively acting as a blood filtration unit. Dysfunction of the proximal tubule segment can lead to Fanconi renotubular syndrome (FRTS), with major symptoms such as excess excretion of water, glucose, and phosphate in the urine. It has been shown that a mutation in HNF4A is associated with FRTS in humans and that Hnf4a is expressed specifically in proximal tubules in adult rat nephrons. However, little is known about the role of Hnf4a in nephrogenesis. Here, we found that Hnf4a is expressed in both presumptive and differentiated proximal tubules in the developing mouse kidney. We show that Hnf4a is required for the formation of differentiated proximal tubules but is dispensable for the formation of presumptive proximal tubules. Furthermore, we show that loss of Hnf4a decreased the expression of proximal tubule-specific genes. Adult Hnf4a mutant mice presented with FRTS-like symptoms, including polyuria, polydipsia, glycosuria, and phosphaturia. Analysis of the adult Hnf4a mutant kidney also showed proximal tubule dysgenesis and nephrocalcinosis. Our results demonstrate the critical role of Hnf4a in proximal tubule development and provide mechanistic insight into the etiology of FRTS.
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