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
Functional assays in Drosophila facilitate classification of variants of uncertain significance associated with rare diseases.
Mok JW et al.
Genome Research, 2025
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
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
Mason AE et al.
Pediatric Nephrology (berlin, Germany), 2021
Proteostasis as a therapeutic target in glomerular injury associated with mutant α-actinin-4.
Yee A et al.
American Journal of Physiology. Renal Physiology, 2018
Genetic basis of adult-onset nephrotic syndrome and focal segmental glomerulosclerosis.
Liu J et al.
Frontiers of Medicine, 2017
Functional Validation of an Alpha-Actinin-4 Mutation as a Potential Cause of an Aggressive Presentation of Adolescent Focal Segmental Glomerulosclerosis: Implications for Genetic Testing.
Feng D et al.
Plos One, 2016
The role of alpha-actinin-4 in human kidney disease.
Feng D et al.
Cell & Bioscience, 2015
Rapid progression to end-stage renal disease in a child with a sporadic ACTN4 mutation.
Kakajiwala AK et al.
Clinical Nephrology. Case Studies, 2015
The structure and regulation of human muscle α-actinin.
Ribeiro Ede A et al.
Cell, 2014
Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.
Joshi S et al.
Acta Paediatrica (oslo, Norway : 1992), 2013
Screening of ACTN4 and TRPC6 mutations in a Chinese cohort of patients with adult-onset familial focal segmental glomerulosclerosis.
Zhang Q et al.
Contributions to Nephrology, 2013
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Benoit G et al.
Pediatric Nephrology (berlin, Germany), 2010
ACTN4 gene mutations and single nucleotide polymorphisms in idiopathic focal segmental glomerulosclerosis.
Dai S et al.
Nephron. Clinical Practice, 2009
Familial focal segmental glomerulosclerosis associated with an ACTN4 mutation and paternal germline mosaicism.
Choi HJ et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2008
Disease-associated mutant alpha-actinin-4 reveals a mechanism for regulating its F-actin-binding affinity.
Weins A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2007
Mutational and Biological Analysis of alpha-actinin-4 in focal segmental glomerulosclerosis.
Weins A et al.
Journal of the American Society of Nephrology : Jasn, 2005