Actin, aortic smooth muscle · UniProt P62736
ACTA2 encodes smooth muscle α-actin, the principal actin isoform of the contractile apparatus in vascular and visceral smooth muscle cells (SMCs), where it polymerizes into filaments that interact with smooth muscle myosin to generate contractile force (PMID:26153420, PMID:24204762). Disease-causing missense mutations (R258C, R179H, R149C) destabilize filaments, impair myosin-driven motility, alter chaperonin (CCT) folding, and shift SMCs from a contractile to a synthetic/proliferative state, causing thoracic aortic aneurysm and dissection, moyamoya-like cerebrovascular disease, and multiorgan smooth muscle dysfunction (PMID:26153420, PMID:34600884, PMID:40378078, PMID:40603847). In cardiac fibroblasts, Acta2 deletion is compensated by upregulation of other actin isoforms (Actg2, Acta1), indicating functional redundancy in myofibroblast contexts (PMID:36007455). Transcription of ACTA2 is repressed by Purβ binding to a purine-rich single-stranded element in the promoter and is activated through histone H4 acetylation downstream of TGFβ signaling and by Myocardin, with sustained silencing achievable via H3K27me3 epigenetic marks (PMID:23724822, PMID:25853442, PMID:35360022).
Establishing the genomic location of ACTA2 on chromosome 10q22-q24 distinguished it from the other human actin genes and enabled subsequent genetic studies linking it to disease.
Evidence Southern blot analysis of somatic cell hybrids and in situ hybridization
Purβ was identified as a transcriptional repressor of ACTA2 that binds cooperatively to a purine-rich ssDNA element in the ACTA2 promoter, establishing a key mechanism controlling myofibroblast differentiation and ACTA2 expression levels.
Evidence shRNA knockdown in MEFs; promoter-reporter assays; recombinant Purβ truncation and binding assays; confirmed by mutagenesis of specific Purβ residues (R267, K82, R159) in 2016
Direct demonstration that ACTA2 is required for myofibroblast contractility and motility — not just a marker — showed it participates in both mechanical and signaling (ERK1/2) functions in activated hepatic stellate cells.
Evidence siRNA/shRNA knockdown in activated hepatic stellate cells; contraction and migration assays; ERK1/2 phosphorylation assessment
Reconstitution of the R258C mutation revealed multiple allosteric effects on actin filament stability, cofilin severing, profilin binding, and myosin force generation, establishing the first molecular mechanism for how a single ACTA2 mutation causes vascular disease.
Evidence Baculovirus-expressed mutant SM α-actin; TIRF microscopy; cofilin severing assay; profilin binding; loaded in vitro motility with SM myosin
TGFβ-induced ACTA2 transcription was linked to histone H4 acetylation at the ACTA2 promoter, revealing an epigenetic activation mechanism during EMT.
Evidence ChIP for acetyl-H4 at ACTA2 promoter in TGFβ2-treated lens epithelial cells; TSA treatment
Whole-animal Acta2 knockout demonstrated that loss of ACTA2 predisposes to angiotensin II-induced aortic dilation, VSMC apoptosis, and phenotypic modulation, directly linking ACTA2 to aortic structural integrity under hemodynamic stress.
Evidence ACTA2 knockout mice with AngII infusion; ultrasound; TUNEL; RT-qPCR and western blot
The R149C mutation was shown to be retained in the CCT chaperonin, reducing the pool of mutant actin incorporated into filaments and explaining the reduced disease penetrance of this variant compared to R258C and R179H.
Evidence CRISPR knock-in mouse; co-IP of actin with CCT; TIRF polymerization; in vitro motility; aortic contraction assays
Conditional deletion of Acta2 in cardiac fibroblasts revealed functional redundancy among actin isoforms: compensatory upregulation of Actg2 and Acta1 preserved myofibroblast function and post-MI repair, resolving whether ACTA2 is essential for all myofibroblast contexts.
Evidence Tamoxifen-inducible cardiac fibroblast-specific KO; post-MI functional assessment; RT-qPCR for actin isoforms; MRTF-A deletion
Transient AngII exposure was found to cause sustained epigenetic silencing of Acta2 via H3K27me3 and downregulation of Myocardin, establishing a 'vascular memory' mechanism that maintains SMC phenotypic modulation long after the stimulus is removed.
Evidence Mouse AngII infusion with follow-up; RNAseq; IHC for H3K27me3; human VSMC culture
CRISPR base editing correction of R179H in iPSC-derived SMCs and AAV9 delivery in humanized mice rescued multiorgan smooth muscle dysfunction, providing the first gene-therapy proof of concept and confirming R179H causes a global contractile-to-synthetic switch.
Evidence iPSC-SMC differentiation; adenine base editing; AAV9 systemic delivery in R179H knock-in mice; aortic, bladder, gut, kidney phenotyping
R179C mutant SMCs were shown to maintain stem cell-like features with elevated glycolysis, and boosting mitochondrial respiration with nicotinamide riboside drove differentiation and prevented moyamoya-like occlusive lesions, linking ACTA2 mutation to metabolic reprogramming as a druggable disease mechanism.
Evidence SMC-specific knock-in mice; carotid artery injury; metabolic flux analysis; NR treatment; neurological phenotyping
| Year | Finding | Method | Journal | Conf | PMIDs |
|---|---|---|---|---|---|
| 2015 | The R258C mutation in smooth muscle α-actin (ACTA2) destabilizes actin filaments, making them more susceptible to cofilin-mediated severing; smooth muscle tropomyosin offers little protection from cofilin cleavage of R258C filaments (unlike WT). Profilin binds more tightly to R258C monomers, increasing the G-actin pool. In an in vitro motility assay, smooth muscle myosin moves R258C filaments more slowly than WT, and under loaded conditions small myosin ensembles cannot generate force on R258C actin-tropomyosin filaments. The mutation acts allosterically, affecting multiple regions of the monomer beyond the mutated residue. | Baculovirus expression of mutant SM α-actin; TIRF microscopy of single filament growth; cofilin severing assay; profilin binding assay; in vitro motility assay with SM myosin; loaded motility assay | Proceedings of the National Academy of Sciences of the United States of America | High | 26153420 |
| 2021 | The R149C mutation in ACTA2 causes increased retention of mutant SM α-actin in the chaperonin-containing t-complex polypeptide (CCT) folding complex, reducing the amount of mutant actin available relative to WT in smooth muscle cells. This is associated with disorganized and reduced SM α-actin filaments, enhanced nucleation by formin, and decreased interaction of mutant filaments with SM myosin in vitro. The enhanced CCT retention of mutant actin likely minimizes pathogenic effects on SMC function and may explain reduced penetrance of aortic disease in R149C carriers. | CRISPR/Cas9 knock-in mouse model; in vitro motility assays; TIRF microscopy polymerization studies; co-immunoprecipitation of actin with CCT; western blot quantification of actin levels in SMCs; aortic contraction assays | The Journal of biological chemistry | High | 34600884 |
| 2025 | The ACTA2 R179H pathogenic variant causes a dramatic phenotypic switch in human iPSC-derived smooth muscle cells (SMCs) from a contractile to a synthetic state, associated with increased proliferation and migration and decreased contractility. CRISPR adenine base editing (ABE8e-SpCas9-VRQR) to correct this variant restored normal SMC contractile phenotype in iPSC-derived SMCs and, when delivered via AAV9 in humanized R179H mice, rescued widespread smooth muscle dysfunction including aortic dilation/dissection, bladder enlargement, gut dilation, and hydronephrosis. | iPSC-derived SMC differentiation; proliferation, migration, and contractility assays; adenine base editing; AAV9 systemic delivery in humanized knock-in mice; phenotypic assessment of multiple organ systems | Circulation | High | 40378078 |
| 2025 | ACTA2 R179C/+ smooth muscle cells fail to fully differentiate and maintain stem cell-like features including increased migration and elevated glycolytic flux compared to WT SMCs. After carotid artery injury, Acta2-SMC-R179C/+ mice develop moyamoya-like intraluminal SMC accumulation and occlusive lesions with neurological symptoms. Boosting mitochondrial respiration with nicotinamide riboside (NR) drives SMC differentiation, reduces migration of mutant SMCs, and prevents MMD-like lesions and strokes after injury. | SMC-specific knock-in mouse model; carotid artery injury model; metabolic flux analysis; migration assays; NR pharmacological treatment; histology; neurological phenotyping | Nature communications | High | 40603847 |
| 2013 | Purine-rich element binding protein B (Purβ) represses ACTA2 transcription by binding cooperatively to the sense strand of a polypurine element (inverted MCAT cis-element) in the ACTA2 promoter/enhancer. The Purβ homodimer possesses three separate single-stranded DNA-binding modules formed by inter- and intramolecular subdomain interactions. Knockdown of Purβ in mouse embryo fibroblasts promoted myofibroblast-like morphology, increased ACTA2 actin isoform expression, and increased cell migration, confirming that Purβ suppresses myofibroblast differentiation by repressing ACTA2 transcription. | shRNA knockdown of Purβ in MEFs; promoter-reporter assays; recombinant Purβ truncation mutants; biochemical ssDNA binding assays; biophysical analyses; co-immunoprecipitation of Purβ with YBX1 | Biochemistry | High | 23724822 |
| 2016 | Electrostatic and hydrophobic interactions mediate high-affinity binding of Purβ to the purine-rich ssDNA MCAT element in the Acta2 promoter. Specific basic residues R267 (intermolecular subdomain), K82 and R159 (intramolecular subdomains) are essential for Purβ repressor function in Acta2 promoter-reporter assays; R267A mutation reduced both ssDNA binding affinity and interaction with the Acta2 corepressor Y-box-binding protein 1 (YBX1). | Quantitative ssDNA binding assays with monovalent salt/detergent titration; pH titration; site-directed mutagenesis; Acta2 promoter-reporter assays in fibroblasts; co-immunoprecipitation | Biochemistry | High | 27064749 |
| 2013 | ACTA2 (α-smooth muscle actin) is required for myofibroblast motility and contraction in hepatic stellate cells (activated myofibroblasts). Knockdown of Acta2 (without affecting cytoplasmic actin isoforms) significantly reduced cellular motility and contraction of activated hepatic stellate cells, and was associated with reduced ERK1/2 phosphorylation, indicating that the Acta2 cytoskeleton participates in signaling as well as structural functions during wound healing. | siRNA/shRNA knockdown of Acta2 in activated hepatic stellate cells; cell motility assay; collagen gel contraction assay; western blot for ERK1/2 phosphorylation; in vivo liver injury models | PloS one | Medium | 24204762 |
| 2013 | In lung adenocarcinoma cells, ACTA2 regulates expression of c-MET and FAK, which selectively influence metastatic potential. Knockdown of ACTA2 using shRNA/siRNA markedly impaired in vitro migration, invasion, clonogenicity, and transendothelial penetration, and significantly reduced metastatic potential in vivo without altering tumorigenic potential. ACTA2 depletion was accompanied by loss of mesenchymal characteristics. | shRNA/siRNA knockdown of ACTA2 in lung adenocarcinoma cell lines; in vitro migration/invasion/transendothelial assays; in vivo xenograft metastasis assay; western blot for c-MET and FAK | Clinical cancer research | Medium | 23995859 |
| 2016 | EGFR/HER2 dimerization induces ACTA2 expression in breast cancer cells through a JAK2/STAT1 signaling pathway. STAT1 inhibition (fludarabine) or JAK2 inhibition (AG490) reduced basal ACTA2 expression, while STAT1 overexpression increased it. ACTA2 knockdown suppressed cell motility in vitro and reduced lung metastatic nodules in vivo. | HER2 overexpression/siRNA knockdown; STAT1 inhibitor/JAK2 inhibitor treatment; STAT1 overexpression; ACTA2 shRNA; in vitro motility assays; in vivo lung metastasis model | Oncotarget | Medium | 28881584 |
| 2015 | TGF-β2-induced epithelial-mesenchymal transition (EMT) in lens epithelial cells is associated with increased histone H4 acetylation specifically at the ACTA2 promoter region, driving ACTA2 expression. The histone deacetylase inhibitor trichostatin A (TSA) suppresses EMT and reduces ACTA2 levels by epigenetically reducing this promoter histone acetylation. | TGF-β2 treatment of FHL124 lens epithelial cells; chromatin immunoprecipitation (ChIP) for acetylated histone H4 at ACTA2 promoter; RT-PCR and western blot for ACTA2; TSA treatment; cell migration assay | Eye (London, England) | Medium | 25853442 |
| 2022 | Deletion of Acta2 in cardiac fibroblasts does not prevent myofibroblast differentiation or impair post-myocardial infarction cardiac repair in mice. Loss of Acta2 causes compensatory transcriptional upregulation of other actin isoforms (especially Actg2 and Acta1), maintaining total filamentous actin and actin levels. Myocardin-related transcription factor-A (MRTF-A) is critical for myofibroblast differentiation but not for the compensatory upregulation of non-Acta2 isoforms, indicating functional redundancy among actin isoforms in cardiac myofibroblasts. | Tamoxifen-inducible cardiac fibroblast-specific Acta2 knockout mice; post-MI cardiac function and histology; proliferation, migration, and contractility assays; RT-qPCR for actin isoforms; MRTF-A deletion | Journal of molecular and cellular cardiology | High | 36007455 |
| 2020 | Downregulation of ACTA2 in neural stem cells (NSCs) inhibits migration by hindering actin filament polymerization via increased RhoA expression and decreased Rac1 expression, placing ACTA2 upstream of the RhoA/Rac1 balance in regulating NSC actin dynamics and migration. | siRNA knockdown of ACTA2 in primary NSCs; migration assay; immunostaining; RT-PCR; RhoA and Rac1 expression analysis | Stem cells international | Medium | 32508931 |
| 2018 | Deletion of ACTA2 in mice promotes angiotensin II-induced progressive aortic lumen dilation, increased apoptosis (elevated Bax/Bcl-2 ratio), and phenotypic modulation of VSMCs (increased osteopontin expression, decreased α-SMA), demonstrating that ACTA2 is required to maintain VSMC contractile phenotype and resist AngII-induced aortic pathology. | ACTA2 knockout mice; AngII osmotic minipump infusion; ultrasound aortic diameter measurement; TUNEL apoptosis assay; RT-qPCR and western blot for OPN, Bax/Bcl-2, α-SMA; histopathology | Journal of thoracic disease | Medium | 30233845 |
| 2015 | ACTA2 mutations impaired migration velocity and reduced contractility in VSMC-like cells transdifferentiated from patient fibroblasts, while ACTA2 and FBN1 DN variant cells showed decreased SMAD2 phosphorylation, placing ACTA2 upstream of TGFβ/SMAD signaling in VSMCs. | Fibroblast-to-VSMC transdifferentiation protocol; migration velocity assay; collagen gel contraction assay; western blot for pSMAD2; comparison across ACTA2, MYH11, SMAD3, FBN1 variant patient cells | Human molecular genetics | Medium | 34244757 |
| 2015 | 3D molecular modeling of the actin filament revealed that residue R179 is positioned at the interface between the two strands of filamentous actin; the R179H mutation is predicted to destabilize inter-strand bundling, providing a structural explanation for the severe phenotype associated with this mutation. | Actin three-dimensional molecular modeling; histopathological analysis of cerebral arteries from ACTA2 R179H patient (massive intimal SMC proliferation, medial fibromuscular proliferation, arterial fibrosis) | Acta neuropathologica communications | Low | 26637293 |
| 2022 | Transient angiotensin II infusion causes sustained (memory) downregulation of Acta2 mRNA and protein in aortic tissue beyond the period of AngII treatment, associated with increased H3K27me3 at nuclei of aortic sections and sustained downregulation of the Acta2 transcriptional activator Myocardin (Myocd), indicating epigenetic silencing of ACTA2 as a vascular memory mechanism. | Mouse AngII infusion with post-treatment follow-up; RNAseq profiling of aortic tissue; RT-qPCR and western blot validation; immunohistochemistry for H3K27me3; human aortic VSMC cell culture model | Frontiers in cardiovascular medicine | Medium | 35360022 |
| 1990 | The human vascular smooth muscle actin gene (ACTA2/ACTSA) was mapped to chromosome 10q22-q24 by Southern blot analysis of somatic cell hybrids and confirmed by in situ hybridization, placing it on a different chromosome from the other four actin genes examined at the time. | Southern blot analysis of rodent-human somatic cell hybrids; in situ hybridization | The Japanese journal of human genetics | High | 2398629 |
| 2024 | Missense variants in ACTA2 (G148R and R179H) injected as mRNA into one-cell stage zebrafish embryos caused significantly reduced cardiac shortening fractions, thinner myocardial walls, and decreased total cell number and proliferating cell numbers in the endothelial and myocardial regions compared to WT, demonstrating that pathogenic ACTA2 variants impair cardiac morphological development in vivo. | Zebrafish mRNA injection of ACTA2 WT, G148R, and R179H; measurement of cardiac shortening fraction; histopathological evaluation at 72 hpf; quantification of proliferating cells (endothelial and myocardial) | Journal of human genetics | Medium | 38316882 |
| 2023 | In aganglionic segments of Hirschsprung disease (HSCR), ACTA2 expression is abnormally elevated in circular smooth muscle cells beginning at embryonic day E15.5, and siRNA-mediated knockdown of Acta2 weakens the contraction ability of intestinal smooth muscle cells, establishing that elevated ACTA2 causes hyperactive contraction contributing to smooth muscle spasm in aganglionic bowel. | Immunohistochemistry in HSCR patients and Ednrb-/- mice; siRNA knockdown of Acta2 in intestinal SMCs; contractility assay; developmental staging in Ednrb-/- mice | Pediatric surgery international | Medium | 37278766 |
| 2014 | RHOA knockdown significantly downregulates ACTA2 gene expression in both osteoblast-like and osteoclast-like human cells, placing RHOA upstream of ACTA2 in a bone cell regulatory pathway. | siRNA knockdown of RHOA and ARHGEF3 in Saos-2 and hFOB 1.19 osteoblast-like cells and osteoclast-like cells; microarray followed by RT-qPCR validation | PloS one | Low | 24840563 |
| 2024 | In a yeast model system, heterozygous expression of TAAD-associated ACTA2 missense variants in Saccharomyces cerevisiae (whose actin is highly conserved with human SM α-actin at the affected residues) causes abnormal actin cytoskeleton organization and mitochondrial distribution, consistent with a dominant-negative pathogenic mechanism of ACTA2 variants on actin function. | Yeast expression of mutant ACTA2 alleles in heterozygous condition; spot test growth assay; fluorescence microscopy of actin cytoskeleton and mitochondria | European journal of human genetics | Medium | 38486025 |
| Year | Title | Journal | Citations | PMID |
|---|---|---|---|---|
| 2009 | Mutations in smooth muscle alpha-actin (ACTA2) cause coronary artery disease, stroke, and Moyamoya disease, along with thoracic aortic disease. | American journal of human genetics | 424 | 19409525 |
| 2010 | De novo ACTA2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction. | American journal of medical genetics. Part A | 209 | 20734336 |
| 2013 | Smooth muscle α actin (Acta2) and myofibroblast function during hepatic wound healing. | PloS one | 151 | 24204762 |
| 2011 | Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. | International journal of cardiology | 129 | 21937134 |
| 2015 | Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations. | Circulation. Cardiovascular genetics | 116 | 25759435 |
| 2017 | Human lung branching morphogenesis is orchestrated by the spatiotemporal distribution of ACTA2, SOX2, and SOX9. | American journal of physiology. Lung cellular and molecular physiology | 110 | 28971977 |
| 2013 | Alpha-smooth muscle actin (ACTA2) is required for metastatic potential of human lung adenocarcinoma. | Clinical cancer research : an official journal of the American Association for Cancer Research | 109 | 23995859 |
| 2012 | A novel distinctive cerebrovascular phenotype is associated with heterozygous Arg179 ACTA2 mutations. | Brain : a journal of neurology | 101 | 22831780 |
| 2014 | An α-smooth muscle actin (acta2/αsma) zebrafish transgenic line marking vascular mural cells and visceral smooth muscle cells. | PloS one | 82 | 24594685 |
| 2009 | Mutation of ACTA2 gene as an important cause of familial and nonfamilial nonsyndromatic thoracic aortic aneurysm and/or dissection (TAAD). | Human mutation | 79 | 19639654 |
| 2019 | The estrogen-regulated lncRNA H19/miR-216a-5p axis alters stromal cell invasion and migration via ACTA2 in endometriosis. | Molecular human reproduction | 69 | 31323679 |
| 2011 | Risk of dissection in thoracic aneurysms associated with mutations of smooth muscle alpha-actin 2 (ACTA2). | Heart (British Cardiac Society) | 62 | 21212136 |
| 2015 | Vascular disease-causing mutation R258C in ACTA2 disrupts actin dynamics and interaction with myosin. | Proceedings of the National Academy of Sciences of the United States of America | 55 | 26153420 |
| 2012 | R179H mutation in ACTA2 expanding the phenotype to include prune-belly sequence and skin manifestations. | American journal of medical genetics. Part A | 51 | 22302747 |
| 2021 | Long non-coding RNA ACTA2-AS1 promotes ductular reaction by interacting with the p300/ELK1 complex. | Journal of hepatology | 44 | 34953958 |
| 2016 | Dimerization of EGFR and HER2 induces breast cancer cell motility through STAT1-dependent ACTA2 induction. | Oncotarget | 42 | 28881584 |
| 2015 | The defining pathology of the new clinical and histopathologic entity ACTA2-related cerebrovascular disease. | Acta neuropathologica communications | 39 | 26637293 |
| 2010 | Analysis of ACTA2 in European Moyamoya disease patients. | European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society | 37 | 20970362 |
| 2011 | Three novel mutations in the ACTA2 gene in German patients with thoracic aortic aneurysms and dissections. | European journal of human genetics : EJHG | 31 | 21248741 |
| 2013 | ACTA2 mutation with childhood cardiovascular, autonomic and brain anomalies and severe outcome. | American journal of medical genetics. Part A | 30 | 23613326 |
| 2020 | A novel mechanism by which ACTA2-AS1 promotes cervical cancer progression: acting as a ceRNA of miR-143-3p to regulate SMAD3 expression. | Cancer cell international | 28 | 32774166 |
| 2020 | Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants. | Neurology | 28 | 33199432 |
| 2023 | ACTA2 Expression Predicts Survival and Is Associated with Response to Immune Checkpoint Inhibitors in Gastric Cancer. | Clinical cancer research : an official journal of the American Association for Cancer Research | 27 | 36508166 |
| 2023 | USP51/ZEB1/ACTA2 axis promotes mesenchymal phenotype in gastric cancer and is associated with low cohesion characteristics. | Pharmacological research | 25 | 36603607 |
| 2020 | ACTA2-AS1 suppresses lung adenocarcinoma progression via sequestering miR-378a-3p and miR-4428 to elevate SOX7 expression. | Cell biology international | 25 | 32808728 |
| 2019 | European reference network for rare vascular diseases (VASCERN) consensus statement for the screening and management of patients with pathogenic ACTA2 variants. | Orphanet journal of rare diseases | 24 | 31752940 |
| 2014 | Congenital fixed dilated pupils due to ACTA2- multisystemic smooth muscle dysfunction syndrome. | Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society | 24 | 24621862 |
| 2018 | ACTA2 Cerebral Arteriopathy: Not Just a Puff of Smoke. | Cerebrovascular diseases (Basel, Switzerland) | 23 | 30300893 |
| 2012 | Neonatal stroke and progressive leukoencephalopathy in a child with an ACTA2 mutation. | Journal of child neurology | 23 | 22752479 |
| 2022 | Loss of Acta2 in cardiac fibroblasts does not prevent the myofibroblast differentiation or affect the cardiac repair after myocardial infarction. | Journal of molecular and cellular cardiology | 22 | 36007455 |
| 2018 | Deletion of ACTA2 in mice promotes angiotensin II induced pathogenesis of thoracic aortic aneurysms and dissections. | Journal of thoracic disease | 22 | 30233845 |
| 2018 | Expanding the Distinctive Neuroimaging Phenotype of ACTA2 Mutations. | AJNR. American journal of neuroradiology | 22 | 30262641 |
| 2022 | Knockdown of lncRNA ACTA2-AS1 reverses cisplatin resistance of ovarian cancer cells via inhibition of miR-378a-3p-regulated Wnt5a. | Bioengineered | 21 | 35412951 |
| 2014 | Influence of ARHGEF3 and RHOA knockdown on ACTA2 and other genes in osteoblasts and osteoclasts. | PloS one | 21 | 24840563 |
| 2020 | Actin Alpha 2 (ACTA2) Downregulation Inhibits Neural Stem Cell Migration through Rho GTPase Activation. | Stem cells international | 20 | 32508931 |
| 2022 | Long non-coding RNA ACTA2-AS1 inhibits the cisplatin resistance of non-small cell lung cancer cells through inhibiting autophagy by suppressing TSC2. | Cell cycle (Georgetown, Tex.) | 19 | 34985374 |
| 2019 | Knockdown of ACTA2‑AS1 promotes liver cancer cell proliferation, migration and invasion. | Molecular medicine reports | 19 | 30664183 |
| 2017 | Transdifferentiation of Human Dermal Fibroblasts to Smooth Muscle-Like Cells to Study the Effect of MYH11 and ACTA2 Mutations in Aortic Aneurysms. | Human mutation | 19 | 28074631 |
| 2013 | Cerebral arteriopathy associated with Arg179His ACTA2 mutation. | Journal of neurointerventional surgery | 19 | 24353327 |
| 2015 | Progressive Aortic Dilation Associated With ACTA2 Mutations Presenting in Infancy. | Pediatrics | 18 | 26034244 |
| 2016 | Indirect and direct revascularization of ACTA2 cerebral arteriopathy: feasibility of the superficial temporal artery to anterior cerebral artery bypass with posterior auricular artery interposition graft: case report. | Journal of neurosurgery. Pediatrics | 17 | 27176728 |
| 2015 | Association of histone acetylation at the ACTA2 promoter region with epithelial mesenchymal transition of lens epithelial cells. | Eye (London, England) | 17 | 25853442 |
| 2014 | Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. | Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus | 17 | 24998021 |
| 1990 | Assignment of the vascular smooth muscle actin gene ACTSA to human chromosome 10. | Jinrui idengaku zasshi. The Japanese journal of human genetics | 16 | 2398629 |
| 2021 | LncRNA ACTA2-AS1 suppress colon adenocarcinoma progression by sponging miR-4428 upregulation BCL2L11. | Cancer cell international | 15 | 33845844 |
| 2013 | Structural basis of multisite single-stranded DNA recognition and ACTA2 repression by purine-rich element binding protein B (Purβ). | Biochemistry | 15 | 23724822 |
| 2016 | Cerebral arteriopathy associated with heterozygous Arg179Cys mutation in the ACTA2 gene: Report in 2 newborn siblings. | Brain & development | 14 | 27567161 |
| 2014 | Twins with progressive thoracic aortic aneurysm, recurrent dissection and ACTA2 mutation. | Pediatrics | 14 | 25225139 |
| 2013 | Cerebral arteriopathy associated with Arg179His ACTA2 mutation. | BMJ case reports | 14 | 24293535 |
| 2021 | Tmem100- and Acta2-Lineage Cells Contribute to Implant Osseointegration in a Mouse Model. | Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research | 12 | 33528844 |
| 2020 | High-resolution iris and retinal imaging in multisystemic smooth muscle dysfunction syndrome due to a novel Asn117Lys substitution in ACTA2: a case report. | BMC ophthalmology | 12 | 32093627 |
| 2018 | Iris anomalies and the incidence of ACTA2 mutation. | The British journal of ophthalmology | 12 | 29875232 |
| 2013 | Iris Flocculi as an ocular marker of ACTA2 mutation in familial thoracic aortic aneurysms and dissections. | Ophthalmic genetics | 12 | 24020716 |
| 2024 | Long non-coding RNA ACTA2-AS1 suppresses metastasis of papillary thyroid cancer via regulation of miR-4428/KLF9 axis. | Clinical epigenetics | 11 | 38195623 |
| 2021 | Mechanism underlying the regulation of lncRNA ACTA2-AS1 on CXCL2 by absorbing miRNA-532-5p as ceRNA in the development of ovarian cancer. | International journal of clinical and experimental pathology | 11 | 34093945 |
| 2021 | Identification of ACTA2 as a Key Contributor to Venous Malformation. | Frontiers in cell and developmental biology | 11 | 34858981 |
| 2020 | A Potential Theragnostic Regulatory Axis for Arthrofibrosis Involving Adiponectin (ADIPOQ) Receptor 1 and 2 (ADIPOR1 and ADIPOR2), TGFβ1, and Smooth Muscle α-Actin (ACTA2). | Journal of clinical medicine | 11 | 33213041 |
| 2012 | Brachial artery occlusion in a young adult with an ACTA2 thoracic aortic aneurysm. | Vascular medicine (London, England) | 11 | 22946110 |
| 2022 | Colonic healing requires Wnt produced by epithelium as well as Tagln+ and Acta2+ stromal cells. | Development (Cambridge, England) | 10 | 34910127 |
| 2017 | Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. | American journal of medical genetics. Part A | 10 | 28328125 |
| 2011 | Renal FMD may not confer a familial hypertensive risk nor is it caused by ACTA2 mutations. | Pediatric nephrology (Berlin, Germany) | 10 | 21553326 |
| 2021 | Molecular phenotyping and functional assessment of smooth muscle-like cells with pathogenic variants in aneurysm genes ACTA2, MYH11, SMAD3 and FBN1. | Human molecular genetics | 9 | 34244757 |
| 2021 | Resistance of Acta2R149C/+ mice to aortic disease is associated with defective release of mutant smooth muscle α-actin from the chaperonin-containing TCP1 folding complex. | The Journal of biological chemistry | 9 | 34600884 |
| 2022 | lncRNA ACTA2-AS1 inhibits malignant phenotypes of gastric cancer cells. | Open medicine (Warsaw, Poland) | 8 | 35274046 |
| 2018 | Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report. | BMC medical genetics | 8 | 30526509 |
| 2014 | Correlation between single nucleotide polymorphisms of the ACTA2 gene and coronary artery stenosis in patients with type 2 diabetes mellitus. | Experimental and therapeutic medicine | 8 | 24669260 |
| 2021 | ACTA2 mutation is responsible for multisystemic smooth muscle dysfunction syndrome with seizures: A case report and review of literature. | World journal of clinical cases | 7 | 34734057 |
| 2021 | ACTA2-Related Dysgyria: An Under-Recognized Malformation of Cortical Development. | AJNR. American journal of neuroradiology | 7 | 34857515 |
| 2020 | Dysregulated epidermal growth factor and tumor growth factor-beta receptor signaling through GFAP-ACTA2 protein interaction in liver fibrosis. | Pakistan journal of medical sciences | 7 | 32494274 |
| 2017 | ACTA2 mutation and postpartum hemorrhage: a case report. | BMC medical genetics | 7 | 29202781 |
| 2022 | Overexpression of long non-coding RNA ACTA2-AS1 inhibits the viability, proliferation, migration and invasion of colorectal cancer cells. | Tissue & cell | 6 | 35325674 |
| 2022 | Sustained Downregulation of Vascular Smooth Muscle Acta2 After Transient Angiotensin II Infusion: A New Model of "Vascular Memory". | Frontiers in cardiovascular medicine | 6 | 35360022 |
| 2021 | Cerebral arteriopathy in ACTA2 mutations: a spectrum of disease highlighted by a case of variable penetrance in two siblings. | Journal of neurosurgery. Pediatrics | 6 | 33513575 |
| 2016 | Electrostatic and Hydrophobic Interactions Mediate Single-Stranded DNA Recognition and Acta2 Repression by Purine-Rich Element-Binding Protein B. | Biochemistry | 6 | 27064749 |
| 2024 | Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model. | Journal of human genetics | 5 | 38316882 |
| 2023 | Abnormally elevated expression of ACTA2 of circular smooth muscle leads to hyperactive contraction in aganglionic segments of HSCR. | Pediatric surgery international | 5 | 37278766 |
| 2022 | Familial acute aortic dissection associated with a novel ACTA2 germline variant. | Virchows Archiv : an international journal of pathology | 5 | 35896809 |
| 2019 | Characteristic Cerebrovascular Findings Associated with ACTA2 Gene Mutations. | The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques | 5 | 30975232 |
| 2017 | Search for genetic factors in bicuspid aortic valve disease: ACTA2 mutations do not play a major role. | Interactive cardiovascular and thoracic surgery | 5 | 29049801 |
| 2023 | Long Noncoding RNA ACTA2-AS1 Inhibits Cell Growth and Facilitates Apoptosis in Gastric Cancer by Binding with miR-6720-5p to Regulate ESRRB. | Biochemical genetics | 4 | 37222961 |
| 2022 | Expanding the genetic and phenotypic spectrum of ACTA2-related vasculopathies in a Dutch cohort. | Genetics in medicine : official journal of the American College of Medical Genetics | 4 | 36053285 |
| 2021 | The natural history of a family with aortic dissection associated with a novel ACTA2 variant. | Annals of vascular surgery | 4 | 34437965 |
| 2020 | ACTA2 leukovasculopathy: A rare pediatric white matter disorder. | Radiology case reports | 4 | 32595813 |
| 2020 | Refractory cerebral infarction in a child with an ACTA2 mutation. | Brain & development | 4 | 33342581 |
| 2025 | Genomic Editing of a Pathogenic Sequence Variant in ACTA2 Rescues Multisystemic Smooth Muscle Dysfunction Syndrome in Mice. | Circulation | 3 | 40378078 |
| 2025 | Human Amniotic Epithelial Stem Cell Exosomes Regulate Chondrocyte Ferroptosis through ACTA2-AS1-Targeted Binding to ACSL4 for Osteoarthritis Intervention. | Research (Washington, D.C.) | 3 | 40785968 |
| 2023 | Neonatal diagnosis of ACTA2-related disease: A case report and review of literature. | American journal of medical genetics. Part A | 3 | 36607831 |
| 2023 | A highly penetrant ACTA2 mutation of thoracic aortic disease. | Journal of cardiothoracic surgery | 3 | 38044429 |
| 2020 | Aneurysmal Dilatation of Ductus Arteriosus and Pulmonary Artery in Association With ACTA2 Mutation. | World journal for pediatric & congenital heart surgery | 3 | 32452246 |
| 2025 | Immature Acta2R179C/+ smooth muscle cells cause moyamoya-like cerebrovascular lesions in mice prevented by boosting OXPHOS. | Nature communications | 2 | 40603847 |
| 2023 | Augmenting Mitochondrial Respiration in Immature Smooth Muscle Cells with an ACTA2 Pathogenic Variant Mitigates Moyamoya-like Cerebrovascular Disease. | Research square | 2 | 37886459 |
| 2022 | Triple bypass for multisystem smooth muscle dysfunction syndrome due to Arg179His ACTA2 mutation. | Journal of stroke and cerebrovascular diseases : the official journal of National Stroke Association | 2 | 35248443 |
| 2022 | Clinical and neuroimaging features of a familial pathogenic ACTA2 variant as a model of a vascular neurocristopathy. | Neuroradiology | 2 | 35420309 |
| 2020 | Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD). | Journal of the neurological sciences | 2 | 32464348 |
| 2017 | Management of Bilateral Axillary Aneurysms, Threatened Limb, and Diffuse Vasculopathy in a Patient With ACTA2 Mutation. | The Canadian journal of cardiology | 2 | 28343608 |
| 2009 | [Cloning and expression analysis of porcine ACTA2 gene and its association with production traits]. | Yi chuan = Hereditas | 2 | 19586843 |
| 2024 | A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms. | European journal of human genetics : EJHG | 1 | 38486025 |
| 2023 | Aortic Dissection and a Previously Unreported ACTA2 Missense Variant Mutation in a Young Patient: A Case Report. | Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society | 1 | 37672683 |
| 2021 | Nonsurgical treatment of cerebral ischemia associated with ACTA2 cerebral arteriopathy: a case report and literature review. | Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery | 1 | 34546411 |
| 2020 | ACTA2 Mutation: Microsurgeon Beware! | Plastic and reconstructive surgery. Global open | 1 | 33299681 |