Associated Papers
Early use of renin-angiotensin-aldosterone system inhibitors and stable renal function in familial focal segmental glomerulosclerosis with ACTN4 mutation: a case report and literature review.
Miyasako K et al.
Bmc Nephrology, 2025
A pediatric-onset case of chronic kidney disease caused by a novel sporadic ACTN4 variant and literature review.
Li W et al.
The Turkish Journal of Pediatrics, 2025
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
39990878 (PubMed )
Supplement: mmc1.pdf
In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.
Ichikawa Y et al.
Pediatric Nephrology (berlin, Germany), 2024
39093455 (PubMed )
Supplement: 467_2024_6468_MOESM5_ESM.xlsx › Sheet1
Modeling of ACTN4-Based Podocytopathy Using Drosophila Nephrocytes.
Odenthal J et al.
Kidney International Reports, 2023
Case report and literature review: A de novo pathogenic missense variant in ACTN4 gene caused rapid progression to end-stage renal disease.
He Z et al.
Frontiers in Pediatrics, 2022
Clinical exome sequencing is a powerful tool in the diagnostic flow of monogenic kidney diseases: an Italian experience.
Vaisitti T et al.
Journal of Nephrology, 2021
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