ReviewInternational journal of molecular sciences2020
Actin Mutations and Their Role in Disease.
Review in International journal of molecular sciences, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 47 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
47 citing papers in PubMed, 88 citations in OpenAlex.
- Smooth muscle contractile cytoskeleton in health and disease.Journal of muscle research and cell motility · 2026Review
- Multilayered regulation of cytoskeletal protein abundance: autoregulatory mechanisms of actin and tubulin.Experimental & molecular medicine · 2026Review
- "Double-hit" precipitates fulminant cardiac dysfunction in a child with homozygous CAP2 variant: a case report.Frontiers in cardiovascular medicine · 2026Article
- Protein nanoparticle-based vaccine candidate produced inFrontiers in plant science · 2026Article
- Cerebral organoids expressing mutant actin genes reveal cellular mechanism underlying microcephaly.EMBO reports · 2026Article
- Mechanics of blunting of actin-myosin interaction dynamics by the actinopathy-causing mutation E334Q in cytoskeletal γ-actin.The Journal of physiology · 2026Article
- Highly divergent apicomplexan cytoskeletons provide additional models for actin biology.The FEBS journal · 2025Review
- Loss of SPECC1L in cranial neural crest cells results in increased hedgehog signaling and frontonasal dysplasia.bioRxiv : the preprint server for biology · 2025Article
- Multiscale characterization ofiScience · 2025Article
- Functional fluorescence labeling of actins in live-cell system using engineered split-GFP technology.Molecular biology of the cell · 2025Article
- A case of Baraitser-Winter cerebrofrontofacial syndrome diagnosed by whole-exome sequencing.Human genome variation · 2025Article
- The Actin-Binding Prolyl-Isomerase Par17 Sustains Its Substrate Selectivity by Interdomain Allostery.Proteins · 2025Article
- Disruption of SETD3-mediated histidine-73 methylation by the BWCFF-associated β-actin G74S mutation.FEBS letters · 2025Article
- The complete absence of cytoplasmic γ-actin results in no discernible phenotype in mice or primary fibroblasts.The FEBS journal · 2025Article
- Structural and functional mechanisms of actin isoforms.The FEBS journal · 2025Review
- Quantitative proteomics analysis reveals the pathogenesis of obstructed defecation syndrome caused by abnormal expression of dystrophin.World journal of gastroenterology · 2024Article
- Actin cytoskeletal regulation of ciliogenesis in development and disease.Developmental dynamics : an official publication of the American Association of Anatomists · 2024Review
- Actin filament dynamics at barbed ends: New structures, new insights.Current opinion in cell biology · 2024Review
- A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.European journal of human genetics : EJHG · 2024Article
- Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Actin is a widely expressed protein found in almost all eukaryotic cells. In humans, there are six different genes, which encode specific actin isoforms. Disease-causing mutations have been described for each of these, most of which are missense. Analysis of the position of the resulting mutated residues in the protein reveals mutational hotspots. Many of these occur in regions important for actin polymerization. We briefly discuss the challenges in characterizing the effects of these actin mutations, with a focus on cardiac actin mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.