Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Alpha-Actinin-3 Deficiency Links Genetic Susceptibility to Renal Fibrosis: Evidence From Hemodialysis Patients and Murine Models.

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 28 Feb 2026

Santos Raisa B, Vieira Hellena Storch, Scheer Alice K, Ribeiro Larissa R, Silva Cledia F, Orcy Rafael B, Schadock Ines, Budu Alexandre, Araujo Ronaldo Carvalho, Schneider Augusto, Rodrigues André F, Bader Michael, Böhlke Maristela, Barros Carlos Castilho

Abstract excerpt

The X allele of ACTN3 R577X polymorphism results in α-actinin-3 deficiency and has been associated with muscle damage and impaired recovery. While its role has been explored in musculoskeletal and cardiac contexts, no studies have evaluated its impact on chronic kidney disease (CKD). To investigate the prevalence of the ACTN3 R577X polymorphism in patients with end-stage renal disease undergoing hemodialysis (HD)...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Actinin
Share to Disease Models, Animal

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Fibroblasts

Share to Fibrosis

Share to Kidney

Share to Kidney Failure, Chronic

Share to Mice, Inbred C57BL

Share to Renal Dialysis

Source

Open in PubMed Open full text

Identifiers

PMID: 41677364
DOI: 10.1096/fj.202502803RRR
PMCID: PMC12897921

Genes

ACTN3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Alpha-Actinin-3 Deficiency Links Genetic Susceptibility to Renal Fibrosis: Evidence From Hemodialysis Patients and Murine Models.PMID 41677364Read ↗

Tauroursodeoxycholic acid ameliorates renal injury induced by COL4A3 mutation.Semantic proximity Read ↗

Glomerular Elastic Modulus and Gene Expression Patterns Define Two Phases of Alport NephropathySemantic proximity Read ↗

A “human knockout” model to investigate the influence of the α-actinin-3 protein on exercise-induced mitochondrial adaptationsSemantic proximity Read ↗

Identification of Genes Associated with Smad3-dependent Renal Injury by RNA-seq-based Transcriptome AnalysisSemantic proximity Read ↗

Loss of RTN3 phenocopies chronic kidney disease and results in activation of the IGF2-JAK2 pathway in proximal tubular epithelial cells.Semantic proximity Read ↗

A Mutation in γ-Adducin Impairs Autoregulation of Renal Blood Flow and Promotes the Development of Kidney Disease.Semantic proximity Read ↗

Evidence for ACTN3 as a genetic modifier of Duchenne muscular dystrophy.Semantic proximity Read ↗

Protective role of alpha-actinin-3 in the response to an acute eccentric exercise bout.Semantic proximity Read ↗

Analysis of the<i>ACTN3</i>heterozygous genotype suggests that α-actinin-3 controls sarcomeric composition and muscle function in a dose-dependent fashionSemantic proximity Read ↗

Association of the ACTN3 Genotype with Muscle Function: A Systematic Review and Meta-analysis.Semantic proximity Read ↗

Loss of ACTN3 gene function alters mouse muscle metabolism and shows evidence of positive selection in humans.Semantic proximity Read ↗

Association of alpha-actinin-3 genotype with muscle mass and physical function in community-dwelling older adults.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.