Affinage

ACTG1

Actin, cytoplasmic 2 · UniProt P63261

Length
375 aa
Mass
41.8 kDa
Annotated
2026-06-09
100 papers in source corpus 19 papers cited in narrative 19 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 6/6 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ACTG1 encodes cytoplasmic gamma-actin, a ubiquitous cytoskeletal protein that polymerizes into F-actin to support cell proliferation, survival, and tissue morphogenesis (PMID:20662086, PMID:35594181). Gamma-actin function depends on its incorporation into filaments and on regulated interactions with actin-binding machinery: it polymerizes through the Arp2/3 complex (with Lys-118 controlling branch number and position) (PMID:22718764), is bundled and stabilized by tropomyosin, and is severed by cofilin (PMID:19477959, PMID:19419963). In cell migration, gamma-actin loss in melanoma cells increases bundled stress fibers but impairs lamellipodial activity, focal adhesion formation, and FA-dependent signaling more severely than beta-actin loss, with the other isoform upregulated to compensate (PMID:32326615); consistent isoform compensation maintains total actin in Actg1-null cells, which nonetheless show impaired growth and viability (PMID:20662086). Genetic dissection in mice distinguishes a protein-encoded role (fibroblast proliferation and auditory function) from nucleotide-sequence-dependent, locus-specific functions of the Actg1 locus required for survival and muscle integrity (PMID:35594181), and a regulatory alternative-splicing isoform (exon 3a) downregulates gamma-actin post-transcriptionally via nonsense-mediated decay, predominantly in muscle (PMID:24098136). Dominant ACTG1 missense mutations cause autosomal dominant sensorineural hearing loss (DFNA20/26) by destabilizing filaments and altering cofilin and Arp2/3 regulation (PMID:16690605, PMID:19419963, PMID:22718764), while de novo missense mutations cause Baraitser-Winter syndrome with neuronal migration defects (PMID:22366783) and isolated ocular coloboma through loss of F-actin incorporation (PMID:28493397). In cancer contexts, gamma-actin levels are controlled by binding partners including RRAD and exosomal PGAM1, linking ACTG1 to proliferation, the Warburg effect, and podosome-driven neovascularization (PMID:30881024, PMID:37542027).

Mechanistic history

Synthesis pass · year-by-year structured walk · 12 steps
  1. 2003 Medium

    Established that ACTG1 is a human disease gene, linking gamma-actin to dominant progressive hearing loss and mapping the disease mutations onto functionally critical actin domains.

    Evidence Sequencing of affected DFNA20/26 families and molecular domain mapping

    PMID:13680526 PMID:14684684

    Open questions at the time
    • No in vitro functional validation of mutant actin
    • Mechanism of cochlear pathology not addressed
  2. 2006 High

    Provided the first biochemical mechanism for DFNA20/26 mutations by showing they destabilize actin and perturb polymerization, while ruling out a simple dominant-negative model.

    Evidence Yeast genetics with mutant actins plus in vitro thermal stability, nucleotide exchange, and polymerization assays on purified protein

    PMID:16690605 PMID:16773128

    Open questions at the time
    • Studied in yeast actin background rather than human gamma-actin
    • Did not resolve how instability translates to hair-cell loss
  3. 2009 High

    Connected mutant filament instability to specific regulatory interactions, showing deafness mutants are hypersensitive to cofilin severing and that reducing cofilin-driven turnover compensates.

    Evidence In vitro cofilin disassembly and bundling assays, tropomyosin neutralization, and yeast Aip1p-deletion epistasis rescue

    PMID:19419963 PMID:19477959

    Open questions at the time
    • Hair-cell expression of E241K showed no gross stereocilia change, leaving in vivo relevance incomplete
    • Effect of cofilin modulation untested in mammalian hair cells
  4. 2010 High

    Defined the organismal and cellular requirement for gamma-actin protein, separating roles in survival and proliferation from migration.

    Evidence Actg1 knockout mice and primary MEF assays for growth, viability, and migration with western blot for compensation

    PMID:20662086

    Open questions at the time
    • Negative migration result conflicts with later melanoma data, leaving cell-type dependence unresolved
    • Compensatory isoform identity not fully dissected
  5. 2012 Medium

    Extended the ACTG1 disease spectrum to a developmental disorder, implicating gamma-actin in neuronal migration during cortical development.

    Evidence Whole-exome trio sequencing identifying recurrent de novo mutations in Baraitser-Winter syndrome

    PMID:22366783

    Open questions at the time
    • No direct functional assay of mutant protein
    • Mechanism of migration defect not established
  6. 2012 High

    Pinpointed a residue-level mechanism by showing Lys-118 governs the gamma-actin/Arp2/3 interaction controlling branch formation.

    Evidence In vitro Arp2/3 polymerization assays and TIRF single-molecule microscopy of K118 mutants

    PMID:22718764

    Open questions at the time
    • Linkage between altered branching and hearing loss not demonstrated in vivo
  7. 2013 Medium

    Identified a post-transcriptional control circuit and an early cancer-relevant partner regulating gamma-actin abundance.

    Evidence RT-PCR/NMD-inhibitor analysis of an exon-3a splice isoform; ASAP3 knockdown with ACTG1 protein and motility readouts

    PMID:24098136 PMID:24284654

    Open questions at the time
    • ASAP3 link is a single low-detail knockdown study without reciprocal validation
    • Functional consequence of exon-3a NMD regulation in vivo unknown
  8. 2017 Medium

    Showed a coloboma-causing mutation abolishes F-actin incorporation, directly tying a residue to polymerization competence and an ocular phenotype.

    Evidence Whole-exome sequencing plus F-actin incorporation assay of mutant protein

    PMID:28493397

    Open questions at the time
    • Single-lab assay
    • Developmental basis of coloboma not modeled
  9. 2020 High

    Resolved the cell-type-specific migration role, demonstrating gamma-actin is more critical than beta-actin for lamellipodia and focal adhesion signaling in melanoma cells.

    Evidence CRISPR/Cas9(D10A) ACTG1 knockout in A375 with migration, invasion, stress-fiber, lamellipodia, and focal-adhesion readouts versus ACTB knockout; aggregation assays for many mutants in NIH/3T3

    PMID:32326615 PMID:32341388

    Open questions at the time
    • Molecular basis of isoform-specific focal adhesion role unknown
    • Aggregation mutant screen does not define interaction partners affected
  10. 2021 Medium

    Implicated ACTG1 in proliferation and disease-relevant signaling axes (MAPK/ERK, NF-kB-p65, Akt) across prostate cancer and intervertebral disc degeneration.

    Evidence siRNA knockdown with functional motility/proliferation assays and pathway western blots, including ERK inhibitor validation

    PMID:33545632 PMID:34767732

    Open questions at the time
    • Pathway links inferred from protein-level changes, not direct biochemistry
    • Whether effects are cytoskeletal or signaling-intrinsic unresolved
  11. 2022 High

    Separated protein-encoded from nucleotide-sequence-dependent functions of the Actg1 locus, showing protein drives proliferation and hearing while locus-specific sequence supports survival and muscle integrity.

    Evidence Mouse genetic rescue (bG/0 line) with survival, auditory, myopathy, and proliferation readouts

    PMID:35594181

    Open questions at the time
    • Identity of the nucleotide-dependent function (e.g., regulatory element vs codon usage) not defined
    • Molecular basis of myopathy unresolved
  12. 2023 Medium

    Identified a physical partner mediating tumor-microenvironment cytoskeletal remodeling, with exosomal PGAM1 binding gamma-actin to drive podosome formation and angiogenesis.

    Evidence GST pulldown and co-immunoprecipitation plus gelatin degradation and xenograft assays

    PMID:37542027

    Open questions at the time
    • Single-lab interaction data
    • Binding interface and structural basis undefined

Open questions

Synthesis pass · forward-looking unresolved questions
  • How gamma-actin's biochemical properties produce its tissue-specific essentiality (hearing, neuronal migration, muscle) and the molecular identity of the Actg1 locus nucleotide-dependent function remain unresolved.
  • No structural model linking specific mutations to tissue-specific phenotypes
  • Nucleotide-dependent locus function not molecularly defined
  • Signaling pathway links largely correlative

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 3 GO:0008092 cytoskeletal protein binding 3
Localization
GO:0005856 cytoskeleton 3 GO:0005829 cytosol 2
Pathway
R-HSA-1266738 Developmental Biology 3 R-HSA-1643685 Disease 3

Evidence

Reading pass · 19 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2003 Missense mutations in ACTG1 (gamma-actin) cause autosomal dominant progressive sensorineural hearing loss (DFNA20/26); mutations are located in highly conserved actin domains including bundling, gelation, polymerization, and myosin movement binding domains, predicted to interfere with these functions. Sequencing of ACTG1 in affected families; molecular domain mapping American journal of human genetics Medium 13680526
2003 A Thr278Ile mutation in ACTG1 identified in a DFNA20/26 family; molecular modelling predicts the mutation impairs actin polymerisation due to proximity to Met313 in helix 11 of the modelled protein structure. Linkage analysis, ACTG1 sequencing, molecular modelling of protein structure Journal of medical genetics Low 14684684
2006 Six DFNA20/26 point mutations engineered into yeast actin cause: growth defects, mitochondrial morphology abnormalities, abnormal actin cable/patch distribution, vacuole morphology abnormalities; two purified mutant actins show decreased thermal stability and increased nucleotide exchange rate (increased protein flexibility); V370A actin polymerizes abnormally (aggregates in low ionic strength, faster polymerization with enhanced nucleation); no dominant negative effect of mutant actin observed in mixtures. Yeast genetics (sole actin expression), in vitro actin biochemistry (thermal stability, nucleotide exchange, polymerization assays), fluorescence microscopy The Journal of biological chemistry High 16690605
2006 A novel V370A ACTG1 mutation in a Norwegian DFNA20/26 family; functional analysis in yeast shows p.V370A restricts cell growth at elevated temperature or under hyperosmolar stress; molecular modelling suggests the mutation modestly alters a site for protein-protein interaction in gamma-actin. Linkage analysis, ACTG1 sequencing, yeast functional assay, molecular modelling European journal of human genetics Medium 16773128
2009 DFNA20/26 gamma-actin mutants K118N and E241K assessed in yeast and mammalian cells: K118N has mild effect on yeast behaviour; E241K causes severe phenotype including inability to grow on glycerol, aberrant multi-vacuolar pattern, and thick F-actin bundles; E241K mutant spontaneously forms bundles in vitro (neutralized by tropomyosin); E241K filament bundles are hypersensitive to cofilin severing; in NIH3T3 cells both mutants incorporate into cytoskeletal structures but also form cytoplasmic aggregates; expression in cochlear hair cells causes no gross alteration in cytoskeletal structures or stereocilia morphology. Yeast genetics, in vitro F-actin bundling assay, cofilin severing assay, NIH3T3 cell transfection, cochlear hair cell gene-gun expression, fluorescence microscopy Human molecular genetics High 19477959
2009 DFNA20/26 actin mutations T89I and V370A cause F-actin filaments to be much more susceptible to cofilin disassembly in vitro; P332A filaments show enhanced resistance to cofilin; K118M mutant does not affect cofilin-G-actin interaction; in vivo, elimination of cofilin-activating protein Aip1p rescues inability of K118M, T278I, P332A, and V370A mutants to grow on glycerol, suggesting filament instability caused by these mutations can be compensated by decreasing cofilin-driven filament turnover. In vitro F-actin cofilin disassembly assay, yeast genetic epistasis (Aip1p deletion rescue) The Journal of biological chemistry High 19419963
2010 Actg1 null (Actg1-/-) mice are fully viable during embryonic development but most die within 48 h of birth due to respiratory failure; Actg1-/- mice exhibit stunted growth and delayed cardiac outflow tract formation; primary mouse embryonic fibroblasts lacking gamma-actin show growth impairment and reduced cell viability; gamma-actin is not required for cell migration in these cells; total actin protein level is maintained in Actg1-/- cells through compensatory expression. Actg1 knockout mouse generation, mouse embryonic fibroblast primary culture, cell growth/viability assay, cell migration assay, western blot Cytoskeleton (Hoboken, N.J.) High 20662086
2012 De novo missense mutations in ACTG1 cause Baraitser-Winter syndrome, characterized by craniofacial features, ocular colobomata, and neuronal migration defect; two recurrent de novo ACTG1 mutations identified including p.Ser155Phe, confirming ACTG1 is required for neuronal migration during cortical development. Whole-exome sequencing of proband-parent trios, Sanger sequencing validation in additional affected individuals Nature genetics Medium 22366783
2012 DFNA20/26 deafness mutations K118M and K118N in gamma-actin reduce actin + Arp2/3 polymerization rates in vitro; TIRF microscopy of K118M shows reduced number of branches per filament and altered branch location (majority near pointed end rather than barbed end), revealing a role for Lys-118 in the actin-Arp2/3 interaction. In vitro bulk polymerization assay with Arp2/3 complex, TIRF microscopy The Journal of biological chemistry High 22718764
2013 Loss of ASAP3 destabilizes ACTG1 protein and suppresses cancer cell migration/invasion; ASAP3 and ACTG1 are linked in regulation of cytoskeletal maintenance and cell motility. ASAP3 knockdown, ACTG1 protein level assessment, cell migration/invasion assay Molecular medicine reports Low 24284654
2013 A novel alternatively-spliced ACTG1 transcript including exon 3a introduces an in-frame premature termination codon and is targeted for nonsense-mediated decay (NMD), providing a post-transcriptional mechanism to downregulate gamma-actin expression; this exon is predominantly expressed in skeletal muscle, cardiac muscle, and diaphragm and is upregulated during C2C12 cell differentiation; NMD inhibitor treatment causes 7-fold increase in exon 3a-containing transcripts. RT-PCR, tissue expression profiling in mice, C2C12 differentiation assay, NMD inhibitor treatment PLoS genetics Medium 24098136
2017 A recurrent de novo ACTG1 mutation p.(Pro70Leu) causes isolated ocular coloboma; the mutant protein is incapable of incorporation into F-actin, demonstrating that this residue is required for actin polymerization. Whole-exome sequencing, F-actin incorporation assay for mutant protein Human mutation Medium 28493397
2019 RRAD binds to ACTG1 and suppresses aerobic glycolysis (Warburg effect) in hepatocellular carcinoma by downregulating ACTG1; ACTG1 promotes HCC cell proliferation by regulating the cell cycle and inhibits apoptosis through the mitochondrial apoptosis pathway in vitro; RRAD retards tumor growth by downregulating ACTG1 in vivo. Co-immunoprecipitation (RRAD-ACTG1 interaction), ACTG1 overexpression/knockdown, cell cycle analysis, apoptosis assay, glucose metabolism assay, xenograft in vivo model OncoTargets and therapy Medium 30881024
2020 CRISPR/Cas9(D10A) knockout of ACTG1 in human melanoma cells (A375): gamma-actin loss increases bundled stress fiber formation but impairs lamellipodial activity; CR-ACTG1 cells show greater impairment of cell migration and invasion than CR-ACTB cells; absence of gamma-actin causes more severe alteration of focal adhesion (FA) formation and FA-dependent signaling than beta-actin loss; expression of the other isoform is upregulated to compensate. CRISPR/Cas9(D10A) gene editing, cell migration assay, invasion assay, focal adhesion staining, fluorescence microscopy, western blot International journal of molecular sciences High 32326615
2020 Several ACTG1 missense mutations (p.I34M, p.M82I, p.K118M, p.I165V) cause intracellular aggregate formation when expressed in NIH/3T3 fibroblasts, indicating inability to polymerize into F-actin; other mutants (p.R37H, p.G48R, p.E241K, p.H275Y) distribute similarly to wild-type. Transient transfection of mutant ACTG1 in NIH/3T3 cells, fluorescence microscopy for intracellular localization Scientific reports Medium 32341388
2021 ACTG1 knockdown in human nucleus pulposus cells upregulates MMP3 and decreases collagen II; ACTG1 knockdown increases P-P65 (NF-κB) and suppresses P-Akt, indicating ACTG1 regulates IDD through the NF-κB-p65 and Akt signaling pathways. siRNA knockdown of ACTG1, western blot for pathway components, MMP3 and collagen II expression assay Biochemical and biophysical research communications Medium 33545632
2021 ACTG1 knockdown in prostate cancer cells inhibits proliferation, migration, and invasion; ERK protein expression is downregulated after ACTG1 knockdown; ERK1/2 inhibitor treatment decreases epithelial-mesenchymal transition marker expression, indicating ACTG1 influences PCa metastasis through the MAPK/ERK signaling pathway. ACTG1 siRNA knockdown, wound healing assay, CCK8 proliferation assay, Transwell invasion assay, western blot, ERK1/2 inhibitor treatment DNA and cell biology Medium 34767732
2022 Actg1 has both nucleotide-dependent and protein-dependent functions: bG/0 mice (gamma-actin protein expressed only from the Actb locus, no Actg1 locus) show survival defect and myopathy despite normal gamma-actin protein levels, demonstrating nucleotide-dependent (locus-specific) functions for Actg1; bG/0 genotype rescues Actg1-/- defects in cell proliferation and auditory function, implicating gamma-actin protein (not nucleotide sequence) in fibroblast growth and hearing. Mouse genetics (Actb/Actg1 cross to generate bG/0 line), survival analysis, auditory function testing, muscle histology, cell proliferation assay Molecular biology of the cell High 35594181
2023 Exosomal PGAM1 from prostate cancer cells binds to ACTG1 (gamma-actin) in human umbilical vein endothelial cells (HUVECs), promoting podosome formation and neovascular sprouting; PGAM1-ACTG1 interaction was demonstrated by GST pulldown and co-immunoprecipitation. GST pulldown, co-immunoprecipitation, western blot, gelatin degradation assay (invadopodia/podosome formation), in vivo xenograft model Cell death & disease Medium 37542027

Source papers

Stage 0 corpus · 100 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2011 Bone mineral density and fractures in antiretroviral-naive persons randomized to receive abacavir-lamivudine or tenofovir disoproxil fumarate-emtricitabine along with efavirenz or atazanavir-ritonavir: Aids Clinical Trials Group A5224s, a substudy of ACTG A5202. The Journal of infectious diseases 415 21606537
2008 Endothelial function in human immunodeficiency virus-infected antiretroviral-naive subjects before and after starting potent antiretroviral therapy: The ACTG (AIDS Clinical Trials Group) Study 5152s. Journal of the American College of Cardiology 259 18687253
2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature genetics 234 22366783
1997 Monitoring plasma HIV-1 RNA levels in addition to CD4+ lymphocyte count improves assessment of antiretroviral therapeutic response. ACTG 241 Protocol Virology Substudy Team. Annals of internal medicine 219 9182469
2003 Mutations in the gamma-actin gene (ACTG1) are associated with dominant progressive deafness (DFNA20/26). American journal of human genetics 163 13680526
1996 Association of plasma human immunodeficiency virus type 1 RNA level with risk of clinical progression in patients with advanced infection. AIDS Clinical Trials Group (ACTG) 116B/117 Study Team. ACTG Virology Committee Resistance and HIV-1 RNA Working Groups. The Journal of infectious diseases 156 8843206
2016 Body Composition Changes After Initiation of Raltegravir or Protease Inhibitors: ACTG A5260s. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 141 26797215
2006 Effect of baseline- and treatment-related factors on immunologic recovery after initiation of antiretroviral therapy in HIV-1-positive subjects: results from ACTG 384. Journal of acquired immune deficiency syndromes (1999) 139 16810109
2006 Randomized controlled study of tenofovir and adefovir in chronic hepatitis B virus and HIV infection: ACTG A5127. Hepatology (Baltimore, Md.) 129 17058225
2007 Optimizing measurement of self-reported adherence with the ACTG Adherence Questionnaire: a cross-protocol analysis. Journal of acquired immune deficiency syndromes (1999) 128 18077832
2011 Efficacy of a nucleoside-sparing regimen of darunavir/ritonavir plus raltegravir in treatment-naive HIV-1-infected patients (ACTG A5262). AIDS (London, England) 124 21857490
2000 Response to immunization with recall and neoantigens after prolonged administration of an HIV-1 protease inhibitor-containing regimen. ACTG 375 team. AIDS Clinical Trials Group. AIDS (London, England) 115 10714563
2000 Preservation of lymphocyte immunophenotype and proliferative responses in cryopreserved peripheral blood mononuclear cells from human immunodeficiency virus type 1-infected donors: implications for multicenter clinical trials. The ACTG Immunology Advanced Technology Laboratories. Clinical and diagnostic laboratory immunology 110 10799445
2015 Changes in Inflammation and Immune Activation With Atazanavir-, Raltegravir-, Darunavir-Based Initial Antiviral Therapy: ACTG 5260s. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 108 25904376
2003 A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). Journal of medical genetics 105 14684684
2011 Peripheral and central fat changes in subjects randomized to abacavir-lamivudine or tenofovir-emtricitabine with atazanavir-ritonavir or efavirenz: ACTG Study A5224s. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 103 21690627
2022 A minimal monitoring approach for the treatment of hepatitis C virus infection (ACTG A5360 [MINMON]): a phase 4, open-label, single-arm trial. The lancet. Gastroenterology & hepatology 97 35026142
2011 The setpoint study (ACTG A5217): effect of immediate versus deferred antiretroviral therapy on virologic set point in recently HIV-1-infected individuals. The Journal of infectious diseases 85 22180621
2010 Delayed embryonic development and impaired cell growth and survival in Actg1 null mice. Cytoskeleton (Hoboken, N.J.) 84 20662086
2018 ACTG A5353: A Pilot Study of Dolutegravir Plus Lamivudine for Initial Treatment of Human Immunodeficiency Virus-1 (HIV-1)-infected Participants With HIV-1 RNA <500000 Copies/mL. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 81 29253097
2006 A randomized, partially blinded phase 2 trial of antiretroviral therapy, HIV-specific immunizations, and interleukin-2 cycles to promote efficient control of viral replication (ACTG A5024). The Journal of infectious diseases 76 17109338
2015 Pretreatment HIV Drug Resistance and HIV-1 Subtype C Are Independently Associated With Virologic Failure: Results From the Multinational PEARLS (ACTG A5175) Clinical Trial. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 70 25681380
2013 Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations. European journal of human genetics : EJHG 69 23756437
2014 Rifaximin has a marginal impact on microbial translocation, T-cell activation and inflammation in HIV-positive immune non-responders to antiretroviral therapy - ACTG A5286. The Journal of infectious diseases 66 25214516
2012 A pilot trial of adding maraviroc to suppressive antiretroviral therapy for suboptimal CD4⁺ T-cell recovery despite sustained virologic suppression: ACTG A5256. The Journal of infectious diseases 66 22740718
2009 In vivo and in vitro effects of two novel gamma-actin (ACTG1) mutations that cause DFNA20/26 hearing impairment. Human molecular genetics 64 19477959
2014 Associations of inflammatory markers with AIDS and non-AIDS clinical events after initiation of antiretroviral therapy: AIDS clinical trials group A5224s, a substudy of ACTG A5202. Journal of acquired immune deficiency syndromes (1999) 61 24121755
1993 Establishment of a quality assurance program for human immunodeficiency virus type 1 DNA polymerase chain reaction assays by the AIDS Clinical Trials Group. ACTG PCR Working Group, and the ACTG PCR Virology Laboratories. Journal of clinical microbiology 61 8308102
2023 Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis by interacting with ACTG1. Cell death & disease 58 37542027
2001 Effect of ritonavir/saquinavir on stereoselective pharmacokinetics of methadone: results of AIDS Clinical Trials Group (ACTG) 401. Journal of acquired immune deficiency syndromes (1999) 57 11404537
2007 Racial differences in virologic failure associated with adherence and quality of life on efavirenz-containing regimens for initial HIV therapy: results of ACTG A5095. Journal of acquired immune deficiency syndromes (1999) 55 18193496
2006 A novel missense mutation in ACTG1 causes dominant deafness in a Norwegian DFNA20/26 family, but ACTG1 mutations are not frequent among families with hereditary hearing impairment. European journal of human genetics : EJHG 54 16773128
2013 Three distinct phases of HIV-1 RNA decay in treatment-naive patients receiving raltegravir-based antiretroviral therapy: ACTG A5248. The Journal of infectious diseases 52 23801609
1996 Predictive value of Toxoplasma gondii antibody titres on the occurrence of toxoplasmic encephalitis in HIV-infected patients. ANRS 005/ACTG 154 Trial Group. AIDS (London, England) 49 8931787
2012 Elevated interleukin 8 and T-helper 1 and T-helper 17 cytokine levels prior to antiretroviral therapy in participants who developed immune reconstitution inflammatory syndrome during ACTG A5164. The Journal of infectious diseases 47 23002445
1995 The tolerability and pharmacokinetics of N-butyl-deoxynojirimycin in patients with advanced HIV disease (ACTG 100). The AIDS Clinical Trials Group (ACTG) of the National Institute of Allergy and Infectious Diseases. Journal of acquired immune deficiency syndromes and human retrovirology : official publication of the International Retrovirology Association 47 8548334
2000 A new locus for late-onset, progressive, hereditary hearing loss DFNA20 maps to 17q25. Genomics 44 10662538
2007 Safety and tolerability of depot medroxyprogesterone acetate among HIV-infected women on antiretroviral therapy: ACTG A5093. Contraception 43 18226670
1991 Placebo-controlled trial to evaluate zidovudine in treatment of human immunodeficiency virus infection in asymptomatic patients with hemophilia. NHF-ACTG 036 Study Group. Blood 43 1831059
2013 Safety, tolerability, and immunogenicity of repeated doses of dermavir, a candidate therapeutic HIV vaccine, in HIV-infected patients receiving combination antiretroviral therapy: results of the ACTG 5176 trial. Journal of acquired immune deficiency syndromes (1999) 42 24169120
2013 Racial differences in response to antiretroviral therapy for HIV infection: an AIDS clinical trials group (ACTG) study analysis. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 40 24046302
2010 Comparison of once-daily versus twice-daily combination antiretroviral therapy in treatment-naive patients: results of AIDS clinical trials group (ACTG) A5073, a 48-week randomized controlled trial. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 39 20192725
2009 Low rate of CMV end-organ disease in HIV-infected patients despite low CD4+ cell counts and CMV viremia: results of ACTG protocol A5030. HIV clinical trials 39 19632953
2007 Plasma HIV-1 RNA dynamics in antiretroviral-naive subjects receiving either triple-nucleoside or efavirenz-containing regimens: ACTG A5166s. The Journal of infectious diseases 39 17357053
2006 Effects of human deafness gamma-actin mutations (DFNA20/26) on actin function. The Journal of biological chemistry 38 16690605
2000 Effect of zidovudine resistance mutations on virologic response to treatment with zidovudine-lamivudine-ritonavir: genotypic analysis of human immunodeficiency virus type 1 isolates from AIDS clinical trials group protocol 315.ACTG Protocol 315 Team. The Journal of infectious diseases 37 10669331
2011 Incidence of non-AIDS-defining cancer in antiretroviral treatment-naïve subjects after antiretroviral treatment initiation: an ACTG longitudinal linked randomized trials analysis. Oncology 35 21606663
2013 Multiphasic analysis of whole exome sequencing data identifies a novel mutation of ACTG1 in a nonsyndromic hearing loss family. BMC genomics 33 23506231
1999 Efficacy and safety of delavirdine mesylate with zidovudine and didanosine compared with two-drug combinations of these agents in persons with HIV disease with CD4 counts of 100 to 500 cells/mm3 (ACTG 261). ACTG 261 Team. Journal of acquired immune deficiency syndromes (1999) 33 10428106
2019 Third-line antiretroviral therapy in low-income and middle-income countries (ACTG A5288): a prospective strategy study. The lancet. HIV 31 31371262
2013 Loss of ASAP3 destabilizes cytoskeletal protein ACTG1 to suppress cancer cell migration. Molecular medicine reports 30 24284654
2010 The impact of HIV/HCV co-infection on health care utilization and disability: results of the ACTG Longitudinal Linked Randomized Trials (ALLRT) Cohort. Journal of viral hepatitis 30 20546501
2006 A pilot study evaluating time to CD4 T-cell count <350 cells/mm(3) after treatment interruption following antiretroviral therapy +/- interleukin 2: results of ACTG A5102. Journal of acquired immune deficiency syndromes (1999) 30 16760795
1999 Predictors for multidrug-resistant tuberculosis among HIV-infected patients and response to specific drug regimens. Terry Beirn Community Programs for Clinical Research on AIDS (CPCRA) and the AIDS Clinical Trials Group (ACTG), National Institutes for Health. The international journal of tuberculosis and lung disease : the official journal of the International Union against Tuberculosis and Lung Disease 30 10206505
2019 RRAD suppresses the Warburg effect by downregulating ACTG1 in hepatocellular carcinoma. OncoTargets and therapy 29 30881024
2010 Treatment with pravastatin and fenofibrate improves atherogenic lipid profiles but not inflammatory markers in ACTG 5087. Journal of clinical lipidology 29 20824151
1998 Interlaboratory concordance of DNA sequence analysis to detect reverse transcriptase mutations in HIV-1 proviral DNA. ACTG Sequencing Working Group. AIDS Clinical Trials Group. Journal of virological methods 28 9820578
2020 Regulation of Actg1 and Gsta2 is possible mechanism by which capsaicin alleviates apoptosis in cell model of 6-OHDA-induced Parkinson's disease. Bioscience reports 26 32537633
2008 Novel ACTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family. Journal of genetics and genomics = Yi chuan xue bao 26 18804074
1998 Safety and immunogenicity of HIV recombinant envelope vaccines in HIV-infected infants and children. National Institutes of Health-sponsored Pediatric AIDS Clinical Trials Group (ACTG-218). Journal of acquired immune deficiency syndromes and human retrovirology : official publication of the International Retrovirology Association 25 9859958
2022 The effect of age on CD4+ T-cell recovery in HIV-suppressed adult participants: a sub-study from AIDS Clinical Trial Group (ACTG) A5321 and the Bone Loss and Immune Reconstitution (BLIR) study. Immunity & ageing : I & A 24 34980186
2009 Peripheral and visceral fat changes following a treatment switch to a non-thymidine analogue or a nucleoside-sparing regimen in HIV-infected subjects with peripheral lipoatrophy: results of ACTG A5110. The Journal of antimicrobial chemotherapy 24 19299471
2020 Knockout of ACTB and ACTG1 with CRISPR/Cas9(D10A) Technique Shows that Non-Muscle β and γ Actin Are Not Equal in Relation to Human Melanoma Cells' Motility and Focal Adhesion Formation. International journal of molecular sciences 23 32326615
2015 Mutational spectrum and clinical features of patients with ACTG1 mutations identified by massively parallel DNA sequencing. The Annals of otology, rhinology, and laryngology 23 25792668
2015 Rare ACTG1 variants in fetal microlissencephaly. European journal of medical genetics 23 26188271
2017 A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma. Human mutation 22 28493397
1999 ACTG 260: a randomized, phase I-II, dose-ranging trial of the anti-human immunodeficiency virus activity of delavirdine monotherapy. The AIDS Clinical Trials Group Protocol 260 Team. Antimicrobial agents and chemotherapy 22 10348755
2021 ACTG1 regulates intervertebral disc degeneration via the NF-κB-p65 and Akt pathways. Biochemical and biophysical research communications 21 33545632
2021 Silencing ACTG1 Expression Induces Prostate Cancer Epithelial Mesenchymal Transition Through MAPK/ERK Signaling Pathway. DNA and cell biology 21 34767732
2018 ACTG1 and TLR3 are biomarkers for alcohol-associated hepatocellular carcinoma. Oncology letters 21 30675230
2010 Uridine supplementation in the treatment of HIV lipoatrophy: results of ACTG 5229. AIDS (London, England) 21 20827170
2004 Activity, safety, and immunological effects of hydroxyurea added to didanosine in antiretroviral-naive and experienced HIV type 1-infected subjects: a randomized, placebo-controlled trial, ACTG 307. AIDS research and human retroviruses 21 15597521
1997 Rhegmatogenous retinal detachment in patients with cytomegalovirus retinitis: the Foscarnet-Ganciclovir Cytomegalovirus Retinitis Trial. The Studies of Ocular Complications of AIDS (SOCA) Research Group in Collaboration with the AIDS Clinical Trials Group (ACTG). American journal of ophthalmology 21 9222234
2020 Genomic Amplification and Functional Dependency of the Gamma Actin Gene ACTG1 in Uterine Cancer. International journal of molecular sciences 20 33217970
2011 Comparative effectiveness of initial antiretroviral therapy regimens: ACTG 5095 and 5142 clinical trials relative to ART-CC cohort study. Journal of acquired immune deficiency syndromes (1999) 20 21857357
2010 Relationship between CD4+ T-cell counts/HIV-1 RNA plasma viral load and AIDS-defining events among persons followed in the ACTG longitudinal linked randomized trials study. Journal of acquired immune deficiency syndromes (1999) 20 20622677
2009 Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1. The Annals of otology, rhinology, and laryngology 20 19548389
2000 Thai Red Cross zidovudine donation program to prevent vertical transmission of HIV: the effect of the modified ACTG 076 regimen. AIDS (London, England) 20 11153673
2016 Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation. BMC genetics 19 26832775
2016 A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. Ophthalmic genetics 19 27096712
2012 Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation. The Journal of biological chemistry 19 22718764
2018 High Baseline Anal Human Papillomavirus and Abnormal Anal Cytology in a Phase 3 Trial of the Quadrivalent Human Papillomavirus Vaccine in Human Immunodeficiency Virus-Infected Individuals Older Than 26 Years: ACTG 5298. Sexually transmitted diseases 18 29528986
2014 Partner-based adherence intervention for second-line antiretroviral therapy (ACTG A5234): a multinational randomised trial. The lancet. HIV 18 26424232
2020 Novel ACTG1 mutations in patients identified by massively parallel DNA sequencing cause progressive hearing loss. Scientific reports 17 32341388
2019 Dolutegravir plus lamivudine for initial treatment of HIV-1-infected participants with HIV-1 RNA <500 000 copies/mL: week 48 outcomes from ACTG 5353. The Journal of antimicrobial chemotherapy 17 30668695
2023 A novel trans-acting lncRNA of ACTG1 that induces the remodeling of ovarian follicles. International journal of biological macromolecules 16 37276900
2022 Nucleotide- and Protein-Dependent Functions of Actg1. Molecular biology of the cell 16 35594181
2015 Lopinavir/Ritonavir Monotherapy as Second-line Antiretroviral Treatment in Resource-Limited Settings: Week 104 Analysis of AIDS Clinical Trials Group (ACTG) A5230. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America 16 25694653
2013 A novel actin mRNA splice variant regulates ACTG1 expression. PLoS genetics 16 24098136
2009 Allele-specific effects of human deafness gamma-actin mutations (DFNA20/26) on the actin/cofilin interaction. The Journal of biological chemistry 16 19419963
2019 Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia. Frontiers in physiology 15 31231230
2006 A randomized trial of treatment interruption before optimized antiretroviral therapy for persons with drug-resistant HIV: 48-week virologic results of ACTG A5086. The Journal of infectious diseases 15 17041858
2011 Use of biological knowledge to inform the analysis of gene-gene interactions involved in modulating virologic failure with efavirenz-containing treatment regimens in ART-naïve ACTG clinical trials participants. Pacific Symposium on Biocomputing. Pacific Symposium on Biocomputing 14 21121053
2004 Daily low-dose subcutaneous interleukin-2 added to single- or dual-nucleoside therapy in HIV infection does not protect against CD4+ T-cell decline or improve other indices of immune function: results of a randomized controlled clinical trial (ACTG 248). Journal of acquired immune deficiency syndromes (1999) 14 15097300
2001 Audiologic aspects of the search for DFNA20: a gene causing late-onset, progressive, sensorineural hearing loss. Ear and hearing 14 11527035
2018 A novel missense mutation in the ACTG1 gene in a family with congenital autosomal dominant deafness: A case report. Molecular medicine reports 13 29620237
2015 Predictors and outcomes of Mycobacterium tuberculosis bacteremia among patients with HIV and tuberculosis co-infection enrolled in the ACTG A5221 STRIDE study. BMC infectious diseases 13 25582793
2010 Treatment with recombinant growth hormone is associated with modest improvement in CD4 lymphocyte reconstitution in HIV-infected persons on antiretroviral therapy: results of ACTG A5174. AIDS research and human retroviruses 13 20415638
2003 A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval. Clinical genetics 12 12519370
2000 Virologic and CD4+ cell responses to new nucleoside regimens: switching to stavudine or adding lamivudine after prolonged zidovudine treatment of human immunodeficiency virus infection. ACTG 302 Study Team. AIDS Clinical Trials Group. AIDS research and human retroviruses 12 10933617

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