Affinage

ACTG1

Actin, cytoplasmic 2 · UniProt P63261

Length
375 aa
Mass
41.8 kDa
Annotated
2026-04-28
100 papers in source corpus 21 papers cited in narrative 21 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

ACTG1 encodes γ-cytoplasmic actin, a ubiquitously expressed actin isoform essential for cell growth, survival, focal adhesion formation, and directed cell migration, with preferential roles over β-actin in lamellipodial dynamics and invasion (PMID:32326615, PMID:20662086). γ-Actin participates in Arp2/3-dependent filament branching and is regulated by cofilin-mediated severing; disease-causing mutations at residues such as Lys-118 impair Arp2/3-dependent branch nucleation, while others (T278I, V370A, T89I) destabilize filaments and increase susceptibility to cofilin disassembly (PMID:22718764, PMID:19419963, PMID:16690605). Missense mutations in ACTG1 cause autosomal dominant sensorineural hearing loss (DFNA20/26) and Baraitser-Winter syndrome, the latter involving neuronal migration defects (PMID:13680526, PMID:22366783). Genetic separation of protein versus nucleotide-sequence contributions reveals that the Actg1 locus also encodes protein-independent functions required for survival and muscle integrity, while γ-actin protein is specifically required for auditory function and cell proliferation (PMID:35594181).

Mechanistic history

Synthesis pass · year-by-year structured walk · 10 steps
  1. 2003 Medium

    Identification of ACTG1 as the gene mutated in DFNA20/26 established that γ-actin has a non-redundant role in auditory hair cell function, raising the question of which actin-regulatory interactions are disrupted.

    Evidence Sequencing of ACTG1 in four hearing-loss families with domain-level mapping of mutations

    PMID:13680526 PMID:14684684

    Open questions at the time
    • No direct biochemical characterization of mutant protein properties
    • Mechanism of hearing loss at cellular level unknown
  2. 2006 High

    Biochemical and genetic analysis of DFNA20/26 mutants in yeast revealed that disease mutations cause intrinsic defects in actin stability, nucleotide exchange, and polymerization kinetics rather than acting as dominant negatives.

    Evidence Yeast sole-actin system; in vitro polymerization, nucleotide exchange, and thermal stability assays for T278I and V370A mutants

    PMID:16690605 PMID:16773128

    Open questions at the time
    • Yeast actin differs from human γ-actin; relevance to mammalian hair cells unclear
    • Effect on actin-binding protein interactions not yet tested
  3. 2009 High

    Demonstration that DFNA20/26 mutations differentially alter cofilin-mediated filament severing — and that genetic suppression of the cofilin pathway rescues growth — established filament turnover dysregulation as a convergent disease mechanism.

    Evidence In vitro cofilin disassembly assays; yeast Aip1p deletion epistasis; bundling assays for E241K

    PMID:19419963 PMID:19477959

    Open questions at the time
    • Molecular basis for mutation-specific directionality (enhanced vs. resistant severing) not resolved
    • No mammalian hair cell confirmation of cofilin-pathway relevance
  4. 2010 High

    Actg1 knockout mice demonstrated that γ-actin is specifically required for postnatal survival and cell growth/viability but dispensable for embryonic development and cell migration, distinguishing its role from compensatory actin isoforms.

    Evidence Actg1−/− mouse model with primary fibroblast assays for growth, viability, and migration

    PMID:20662086

    Open questions at the time
    • Compensatory upregulation of other actins complicates interpretation of which phenotypes are γ-actin-specific
    • Hair cell and auditory phenotype not reported in this study
  5. 2012 High

    Discovery that de novo ACTG1 missense mutations cause Baraitser-Winter syndrome extended γ-actin's non-redundant roles to neuronal migration and craniofacial development, distinct from its auditory function.

    Evidence Whole-exome sequencing of proband-parent trios; replicated across 15+ individuals

    PMID:22366783 PMID:23756437

    Open questions at the time
    • No functional assay in neural tissue to define migration mechanism
    • Phenotypic overlap with ACTB mutations leaves isoform-specific contributions unclear
  6. 2012 High

    Single-filament TIRF microscopy showed that the K118M mutation reduces Arp2/3-dependent branch nucleation frequency and alters branch position, pinpointing Lys-118 as critical for the actin–Arp2/3 interface.

    Evidence In vitro bulk Arp2/3-dependent polymerization and single-filament TIRF branching analysis

    PMID:22718764

    Open questions at the time
    • No structural data directly showing how K118 contacts Arp2/3
    • Other DFNA20/26 mutations not tested for Arp2/3 interaction
  7. 2013 High

    Discovery of an alternatively spliced ACTG1 transcript containing exon 3a that is targeted for NMD revealed a RUST mechanism for tissue-specific (muscle-enriched) post-transcriptional down-regulation of γ-actin production.

    Evidence RT-PCR; NMD inhibitor treatment; C2C12 myoblast differentiation time-course; phylogenetic conservation

    PMID:24098136

    Open questions at the time
    • In vivo role of exon 3a splicing regulation not tested
    • Trans-acting splicing regulators controlling exon 3a inclusion not identified
  8. 2020 High

    CRISPR knockout of ACTG1 in melanoma cells established that γ-actin is preferentially required over β-actin for lamellipodial dynamics, focal adhesion formation, and cell invasion, resolving a longstanding question about isoform-specific cytoskeletal roles.

    Evidence CRISPR/Cas9(D10A) knockout; migration, invasion, focal adhesion quantification; direct comparison with ACTB KO

    PMID:32326615

    Open questions at the time
    • Single cell line (melanoma); generalizability to non-cancer cells unclear
    • Molecular basis for isoform-specific FA recruitment unknown
  9. 2022 High

    Genetic separation experiments using compound Actb-knockin/Actg1-null mice demonstrated that the Actg1 locus encodes protein-independent (nucleotide sequence-dependent) functions essential for survival and muscle integrity, while γ-actin protein is specifically required for auditory function and cell proliferation.

    Evidence bG/0 compound mice expressing only γ-actin protein from the Actb locus; survival, auditory, and histological analysis

    PMID:35594181

    Open questions at the time
    • Identity of protein-independent gene products (regulatory RNA, translational cis-elements) not determined
    • Muscle pathology mechanism not resolved at molecular level
  10. 2023 Medium

    Identification of exosomal PGAM1 as a direct ACTG1-binding partner that promotes podosome formation linked γ-actin to tumor angiogenesis and metastasis through a specific extracellular signaling axis.

    Evidence GST pulldown and co-IP in HUVECs; gelatin degradation assay; in vivo tail-vein metastasis model

    PMID:37542027

    Open questions at the time
    • Binding interface between PGAM1 and γ-actin not mapped
    • Whether PGAM1 interaction is isoform-specific (γ- vs. β-actin) not tested

Open questions

Synthesis pass · forward-looking unresolved questions
  • The molecular nature of the protein-independent, nucleotide sequence-dependent functions encoded by the Actg1 locus — whether arising from regulatory RNA, translational cis-elements, or chromatin context — remains unresolved.
  • No candidate non-coding product from the Actg1 locus has been identified
  • Structural basis for isoform-specific interactions with Arp2/3, cofilin, and focal adhesion components remains undetermined
  • In vivo hair cell-specific rescue experiments have not been performed for individual DFNA20/26 mutations

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 5 GO:0008092 cytoskeletal protein binding 2
Localization
GO:0005856 cytoskeleton 3 GO:0005829 cytosol 2
Pathway
R-HSA-1266738 Developmental Biology 2 R-HSA-5357801 Programmed Cell Death 2 R-HSA-1500931 Cell-Cell communication 1
Partners
ARP2/3ASAP3CFL1PGAM1RRAD

Evidence

Reading pass · 21 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2003 Missense mutations in ACTG1 (gamma-actin) at conserved actin domains cause autosomal dominant progressive sensorineural hearing loss (DFNA20/26), with mutations predicted to interfere with actin bundling, gelation, polymerization, or myosin movement based on domain mapping. Sequencing of ACTG1 in affected families; molecular domain mapping of mutation positions American journal of human genetics Medium 13680526
2003 A Thr278Ile mutation in helix 9 of ACTG1 is predicted to impair actin polymerization by disrupting a conserved residue in close proximity to Met313 in helix 11, based on structural modeling of the known actin crystal structure. Linkage analysis, sequencing, and molecular modeling based on known actin crystal structure Journal of medical genetics Medium 14684684
2006 Six DFNA20/26 point mutations in gamma-actin, when engineered into yeast actin as the sole actin, cause growth deficiencies, mitochondrial morphology defects, abnormal actin cable/patch distribution, and vacuole morphological abnormalities; two purified mutants (T278I and V370A) show decreased thermal stability and increased nucleotide exchange rates; V370A actin aggregates and polymerizes faster than wild-type; no dominant negative effect was detected in mixtures with wild-type actin. Yeast actin mutagenesis (in vivo and in vitro); bulk polymerization assay; nucleotide exchange assay; thermal stability assay The Journal of biological chemistry High 16690605
2006 The V370A ACTG1 mutation alters a site for protein-protein interaction in gamma-actin and modestly alters gamma-actin-based cytoskeletal structures; functional analysis in yeast shows restricted cell growth at elevated temperature or under hyperosmolar stress. Yeast functional assay; molecular modeling European journal of human genetics Medium 16773128
2009 DFNA20/26 gamma-actin mutants K118N and E241K affect actin function differently: E241K forms spontaneous bundles in vitro, which are neutralized by tropomyosin, and E241K filament bundles are hypersensitive to cofilin-mediated severing; K118N has only a mild effect in yeast; both mutants show cytoplasmic aggregates when transiently expressed in NIH3T3 cells; expression in cochlear hair cells does not grossly alter cytoskeletal structures or stereocilia morphology. In vitro bulk polymerization and bundling assays; yeast cell biology; transient transfection of NIH3T3 cells; gene-gun-mediated cochlear hair cell expression Human molecular genetics High 19477959
2009 DFNA20/26 gamma-actin mutants T89I and V370A display enhanced susceptibility to cofilin-mediated filament disassembly, while P332A shows resistance; K118M, T278I, P332A, and V370A growth defects on glycerol in yeast are rescued by deletion of the cofilin-activating protein Aip1p, indicating filament instability can be partially compensated by reducing actin turnover. In vitro cofilin disassembly assays; yeast genetic epistasis (Aip1p deletion); mole-fraction mixing experiments The Journal of biological chemistry High 19419963
2010 Actg1 null (Actg1-/-) mice are viable during embryonic development but mostly die within 48 h of birth; Actg1-/- mice exhibit stunted growth, delayed cardiac outflow tract formation, and primary mouse embryonic fibroblasts show growth impairment and reduced cell viability but normal cell migration; total actin protein level is maintained in Actg1-/- cells via compensatory upregulation, indicating a distinct requirement for gamma-actin in cell growth and survival. Actg1 knockout mouse model; primary mouse embryonic fibroblast culture; cell viability and growth assays; migration assays Cytoskeleton (Hoboken, N.J.) High 20662086
2012 De novo missense mutations in ACTG1 (and ACTB) cause Baraitser-Winter syndrome, characterized by craniofacial features, ocular colobomata, and neuronal migration defects, establishing that cytoplasmic actin isoforms play overlapping roles in neuronal migration and development. Whole-exome sequencing of proband-parent trios; Sanger sequencing validation in 15 additional affected individuals Nature genetics High 22366783
2012 DFNA20/26 mutations K118M and K118N in gamma-actin reduce Arp2/3-dependent actin polymerization rates in vitro; TIRF microscopy shows K118M mutant forms fewer branches per filament and alters branch location toward the pointed end, identifying Lys-118 as important for the actin-Arp2/3 interaction. In vitro bulk polymerization assays with Arp2/3; TIRF microscopy single-filament branching analysis The Journal of biological chemistry High 22718764
2013 ACTG1 mutations cause more moderate phenotypes than ACTB mutations in Baraitser-Winter syndrome, suggesting distinct developmental roles for beta- and gamma-cytoplasmic actins despite their structural similarity and overlapping expression. Clinical and genetic comparison of ACTB vs. ACTG1 mutation carriers; sequencing European journal of human genetics Medium 23756437
2013 Loss of ASAP3 destabilizes ACTG1 (gamma-actin-1) protein and suppresses cancer cell migration/invasion, linking ASAP3 to ACTG1-dependent cytoskeletal maintenance and cell motility. ASAP3 knockdown; co-immunoprecipitation; western blotting; migration/invasion assays Molecular medicine reports Low 24284654
2013 A novel alternatively-spliced ACTG1 transcript containing exon 3a introduces an in-frame premature stop codon and is targeted for nonsense-mediated decay (NMD), representing a RUST (regulated unproductive splicing and translation) mechanism that down-regulates gamma-actin production; exon 3a expression is tissue-specific (predominantly skeletal muscle, cardiac muscle, diaphragm) and coincides with down-regulation of Actg1 during C2C12 myoblast differentiation. RT-PCR; C2C12 differentiation model; NMD inhibitor treatment; phylogenetic conservation analysis PLoS genetics High 24098136
2017 A recurrent de novo ACTG1 mutation encoding p.(Pro70Leu) causes isolated ocular coloboma; the mutant protein is incapable of incorporation into F-actin, directly implicating defective actin polymerization in optic fissure closure. Whole-exome sequencing; F-actin incorporation assay for mutant protein Human mutation Medium 28493397
2019 RRAD binds to ACTG1 (demonstrated by co-immunoprecipitation); RRAD suppresses aerobic glycolysis (Warburg effect) in hepatocellular carcinoma by downregulating ACTG1 expression; ACTG1 promotes HCC cell proliferation by regulating cell cycle progression and inhibits apoptosis through the mitochondrial apoptosis pathway. Co-immunoprecipitation; siRNA knockdown; cell cycle analysis; apoptosis assays; in vivo xenograft model OncoTargets and therapy Medium 30881024
2020 CRISPR/Cas9(D10A) knockout of ACTG1 in human melanoma cells shows that gamma-actin loss has more severe consequences on cell migration and invasion than beta-actin loss; ACTG1 KO increases bundled stress fiber formation but impairs lamellipodial activity and more severely disrupts focal adhesion formation and FA-dependent signaling compared to ACTB KO. CRISPR/Cas9(D10A) gene editing; migration and invasion assays; immunofluorescence; focal adhesion quantification International journal of molecular sciences High 32326615
2020 Several ACTG1 disease-causing mutants (p.I34M, p.M82I, p.K118M, p.I165V) form small intracellular aggregates in NIH/3T3 fibroblasts, while others (p.R37H, p.G48R, p.E241K, p.H275Y) distribute similarly to wild-type, suggesting that some but not all pathogenic mutations impair normal F-actin incorporation. Transfection of ACTG1 mutants in NIH/3T3 fibroblasts; fluorescence microscopy Scientific reports Medium 32341388
2021 ACTG1 knockdown in human nucleus pulposus cells increases MMP3 expression, decreases collagen II levels, and promotes apoptosis; ACTG1 knockdown upregulates phospho-p65 (NF-κB) and suppresses phospho-Akt, placing ACTG1 upstream of NF-κB-p65 and Akt signaling in intervertebral disc homeostasis. siRNA knockdown in human nucleus pulposus cells; western blotting; apoptosis assays Biochemical and biophysical research communications Medium 33545632
2021 Silencing ACTG1 in prostate cancer cells inhibits proliferation, migration, and invasion; ERK protein expression is downregulated after ACTG1 knockdown, and ERK1/2 inhibition recapitulates EMT marker changes, placing ACTG1 upstream of MAPK/ERK signaling in prostate cancer metastasis. siRNA knockdown; wound healing, CCK8, and Transwell assays; western blotting; ERK1/2 inhibitor treatment DNA and cell biology Low 34767732
2022 Crossing Actb-edited mice (expressing gamma-actin from the Actb locus) with Actg1-/- mice to generate bG/0 animals (sole cytoplasmic actin = gamma-actin from Actb nucleotide sequence) reveals that bG/0 mice have impaired survival and a unique myopathy despite normal gamma-actin protein levels, demonstrating nucleotide sequence-dependent (protein-independent) functions for the Actg1 locus; conversely, cell proliferation and auditory function defects of Actg1-/- are rescued in bG/0, indicating these require gamma-actin protein. Genetic mouse models (Actg1-/-, Actb-knockin of gamma-actin, bG/0 compound mice); survival analysis; auditory function testing; histology Molecular biology of the cell High 35594181
2023 Exosomal PGAM1 binds to ACTG1 (gamma-actin) in HUVECs (demonstrated by GST pulldown and co-immunoprecipitation), promoting podosome formation and neovascular sprouting; this interaction facilitates angiogenesis and lung metastasis in prostate cancer. GST pulldown; co-immunoprecipitation; western blotting; gelatin degradation assay; in vivo tail-vein metastasis model Cell death & disease Medium 37542027
2023 A trans-regulatory lncRNA (TRLA), epigenetically regulated by H3K4 acetylation, binds directly to ACTG1 mRNA (2-375 nt of TRLA) to increase ACTG1 expression, promoting granulosa cell migration, proliferation, and follicular remodeling; ACTG1 itself promotes migration and proliferation while inhibiting apoptosis of granulosa cells. RNA binding assay (TRLA:ACTG1 mRNA); siRNA/overexpression; ChIP for H3K4ac; migration, proliferation, and apoptosis assays International journal of biological macromolecules Medium 37276900

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 414 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 257 18687253
2012 De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature genetics 232 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 218 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) 127 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 107 25904376
2003 A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26). Journal of medical genetics 104 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 96 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 84 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
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
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 65 25214516
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
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
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) 60 24121755
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
2023 Exosomal PGAM1 promotes prostate cancer angiogenesis and metastasis by interacting with ACTG1. Cell death & disease 53 37542027
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
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
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 37 24046302
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
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
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 25 32537633
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
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
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 23 34980186
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
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
2021 ACTG1 regulates intervertebral disc degeneration via the NF-κB-p65 and Akt pathways. Biochemical and biophysical research communications 20 33545632
2018 ACTG1 and TLR3 are biomarkers for alcohol-associated hepatocellular carcinoma. Oncology letters 20 30675230
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
2021 Silencing ACTG1 Expression Induces Prostate Cancer Epithelial Mesenchymal Transition Through MAPK/ERK Signaling Pathway. DNA and cell biology 19 34767732
2016 Phenotypic Heterogeneity in a DFNA20/26 family segregating a novel ACTG1 mutation. BMC genetics 19 26832775
2012 Two deafness-causing (DFNA20/26) actin mutations affect Arp2/3-dependent actin regulation. The Journal of biological chemistry 19 22718764
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) 19 21857357
2020 Genomic Amplification and Functional Dependency of the Gamma Actin Gene ACTG1 in Uterine Cancer. International journal of molecular sciences 18 33217970
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
2016 A novel mutation in ACTG1 causing Baraitser-Winter syndrome with extremely variable expressivity in three generations. Ophthalmic genetics 18 27096712
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
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
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
2023 A novel trans-acting lncRNA of ACTG1 that induces the remodeling of ovarian follicles. International journal of biological macromolecules 14 37276900
2022 Nucleotide- and Protein-Dependent Functions of Actg1. Molecular biology of the cell 14 35594181
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
2019 Post-mortem Characterisation of a Case With an ACTG1 Variant, Agenesis of the Corpus Callosum and Neuronal Heterotopia. Frontiers in physiology 13 31231230
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
2015 Reductions in Plasma Cystatin C After Initiation of Antiretroviral Therapy Are Associated With Reductions in Inflammation: ACTG A5224s. Journal of acquired immune deficiency syndromes (1999) 12 26009829
2003 A second kindred linked to DFNA20 (17q25.3) reduces the genetic interval. Clinical genetics 12 12519370