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
Association of ACTN4 Gene Mutation with Primary Nephrotic Syndrome in Children in Guangxi Autonomous Region, China.
Cao S et al.
Genetic Testing and Molecular Biomarkers, 2024
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
Identification of a Novel ACTN4 Gene Mutation Which Is Resistant to Primary Nephrotic Syndrome Therapy.
Meng L et al.
Biomed Research International, 2019
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
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 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
Analysis of recessive CD2AP and ACTN4 mutations in steroid-resistant nephrotic syndrome.
Benoit G et al.
Pediatric Nephrology (berlin, Germany), 2010
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
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