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    ACTB actin beta [ Homo sapiens (human) ]

    Gene ID: 60, updated on 6-Oct-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses.

    CRISPR/Cas9-mediated editing of ACTB in induced pluripotent stem cells: A model for investigating human ACTB loss-of-function and genetic adaptive responses.
    Binder S, Ramachandran H, Haslinger D, Hildebrandt B, Dobner J, Haarmann-Stemmann T, Chiocchetti A, Rossi A.

    06/10/2024
    The identification of giant platelets with disorganized granules can suggest ACTB gene mutation.

    The identification of giant platelets with disorganized granules can suggest ACTB gene mutation.
    Fouassier M, Isidor B, Cogne B, Béné MC, Eveillard M.

    05/17/2023
    Frameshift mutation S368fs in the gene encoding cytoskeletal beta-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.

    Frameshift mutation S368fs in the gene encoding cytoskeletal β-actin leads to ACTB-associated syndromic thrombocytopenia by impairing actin dynamics.
    Greve JN, Schwäbe FV, Pokrant T, Faix J, Di Donato N, Taft MH, Manstein DJ.

    05/21/2022
    lncRNA ADAMTS9-AS1/circFN1 Competitively Binds to miR-206 to Elevate the Expression of ACTB, Thus Inducing Hypertrophic Cardiomyopathy.

    lncRNA ADAMTS9-AS1/circFN1 Competitively Binds to miR-206 to Elevate the Expression of ACTB, Thus Inducing Hypertrophic Cardiomyopathy.
    Feng W, Han S., Free PMC Article

    04/30/2022
    Identification of Novel Endogenous Controls for qPCR Normalization in SK-BR-3 Breast Cancer Cell Line.

    Identification of Novel Endogenous Controls for qPCR Normalization in SK-BR-3 Breast Cancer Cell Line.
    Jain N, Mitre I, Nitisa D, Pirsko V, Cakstina-Dzerve I., Free PMC Article

    02/12/2022
    A pan-cancer analysis of the prognostic and immunological role of beta-actin (ACTB) in human cancers.

    A pan-cancer analysis of the prognostic and immunological role of β-actin (ACTB) in human cancers.
    Gu Y, Tang S, Wang Z, Cai L, Lian H, Shen Y, Zhou Y., Free PMC Article

    12/18/2021
    Associations of ACTB and DIAPH1 gene polymorphisms with myocardial infarction.

    Associations of ACTB and DIAPH1 gene polymorphisms with myocardial infarction.
    Zhang C, Han C, Gao Z, Li Y, Zhen H, Jiang L.

    12/4/2021
    Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.

    Post-zygotic ACTB mutations underlie congenital smooth muscle hamartomas.
    Atzmony L, Ugwu N, Zaki TD, Antaya RJ, Choate KA., Free PMC Article

    08/7/2021
    Further delineation of putative ACTB loss-of-function variants: A 4-patient series.

    Further delineation of putative ACTB loss-of-function variants: A 4-patient series.
    Baumann M, Beaver EM, Palomares-Bralo M, Santos-Simarro F, Holzer P, Povysil G, Müller T, Valovka T, Janecke AR., Free PMC Article

    07/24/2021
    The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.

    The First Korean Case of Baraitser-Winter Cerebro-Fronto-Facial Syndrome with a Novel Mutation in ACTB Diagnosed Via Targeted Gene Panel Sequencing and Literature Review.
    Choi GJ, Kim MS, Park H, Kim JY, Choi JM, Lee SM, Jang JH, Cho SY, Jin DK.

    06/12/2021
    Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing.

    Prenatal presentation and diagnosis of Baraitser-Winter syndrome using exome sequencing.
    Zhang K, Cox E, Strom S, Xu ZL, Disilvestro A, Usrey K.

    06/12/2021
    Mutant ACTB mRNA 3'-UTR promotes hepatocellular carcinoma development by regulating miR-1 and miR-29a.

    Mutant ACTB mRNA 3'-UTR promotes hepatocellular carcinoma development by regulating miR-1 and miR-29a.
    Li Y, Ma H, Shi C, Feng F, Yang L.

    06/12/2021
    Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.

    Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
    Hampshire K, Martin PM, Carlston C, Slavotinek A.

    06/5/2021
    Prevalence of Cytoplasmic Actin Mutations in Diffuse Large B-Cell Lymphoma and Multiple Myeloma: A Functional Assessment Based on Actin Three-Dimensional Structures.

    Prevalence of Cytoplasmic Actin Mutations in Diffuse Large B-Cell Lymphoma and Multiple Myeloma: A Functional Assessment Based on Actin Three-Dimensional Structures.
    Witjes L, Van Troys M, Verhasselt B, Ampe C., Free PMC Article

    04/17/2021
    D-Loop Mutation G42A/G46A Decreases Actin Dynamics.

    D-Loop Mutation G42A/G46A Decreases Actin Dynamics.
    Matsuzaki M, Fujiwara I, Kashima S, Matsumoto T, Oda T, Hayashi M, Maeda K, Takiguchi K, Maéda Y, Narita A., Free PMC Article

    04/3/2021
    Nuclear F-actin counteracts nuclear deformation and promotes fork repair during replication stress.

    Nuclear F-actin counteracts nuclear deformation and promotes fork repair during replication stress.
    Lamm N, Read MN, Nobis M, Van Ly D, Page SG, Masamsetti VP, Timpson P, Biro M, Cesare AJ.

    02/27/2021
    Knockout of ACTB and ACTG1 with CRISPR/Cas9(D10A) Technique Shows that Non-Muscle beta and gamma Actin Are Not Equal in Relation to Human Melanoma Cells' Motility and Focal Adhesion Formation.

    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.
    Malek N, Mrówczyńska E, Michrowska A, Mazurkiewicz E, Pavlyk I, Mazur AJ., Free PMC Article

    02/13/2021
    The ACTB Variants and Alcohol Drinking Confer Joint Effect to Ischemic Stroke in Chinese Han Population.

    The ACTB Variants and Alcohol Drinking Confer Joint Effect to Ischemic Stroke in Chinese Han Population.
    Yang S, Zhao Y, Chen X, Lu X, Chen Y, Zhao X, Zhu L, Fang Z, Zhao H, Yao Y, Liu C, Shen C., Free PMC Article

    12/19/2020
    Recurrent ACTB-FOSB fusion occurs in pseudomyogenic hemangioendothelioma.

    Diagnosis of known sarcoma fusions and novel fusion partners by targeted RNA sequencing with identification of a recurrent ACTB-FOSB fusion in pseudomyogenic hemangioendothelioma.
    Zhu G, Benayed R, Ho C, Mullaney K, Sukhadia P, Rios K, Berry R, Rubin BP, Nafa K, Wang L, Klimstra DS, Ladanyi M, Hameed MR., Free PMC Article

    05/2/2020
    Pericytoma with t(7;12) and ACTB-GLI1 fusion could be classified as malignant myopericytoma variants or an emerging translocation-associated sarcoma of uncertain differentiation.

    Pericytoma With t(7;12) and ACTB-GLI1 Fusion: Reevaluation of an Unusual Entity and its Relationship to the Spectrum of GLI1 Fusion-related Neoplasms.
    Kerr DA, Pinto A, Subhawong TK, Wilky BA, Schlumbrecht MP, Antonescu CR, Nielsen GP, Rosenberg AE., Free PMC Article

    04/18/2020
    Structural analyses, supported by biochemical experiments and enzyme activity assays, indicate that the recognition and methylation of beta-actin by SETD3 are highly sequence specific, and that both SETD3 and beta-actin adopt pronounced conformational changes upon binding to each other

    Structural insights into SETD3-mediated histidine methylation on β-actin.
    Guo Q, Liao S, Kwiatkowski S, Tomaka W, Yu H, Wu G, Tu X, Min J, Drozak J, Xu C., Free PMC Article

    04/4/2020
    Recurrent ACTB-FOSB fusions are found in pseudomyogenic hemangioendothelioma.

    Expanding the Spectrum of Genetic Alterations in Pseudomyogenic Hemangioendothelioma With Recurrent Novel ACTB-FOSB Gene Fusions.
    Agaram NP, Zhang L, Cotzia P, Antonescu CR., Free PMC Article

    09/7/2019
    the present study uncovered a yet unrecognized nuclear coupling of AKT and provides insights into the involvement of AKT in the interaction network of nuclear actin.

    AKT/protein kinase B associates with β-actin in the nucleus of melanoma cells.
    Coa LL, Abreu TF, Tashima AK, Green J, Pascon RC, Vallim MA, Machado-Jr J., Free PMC Article

    07/27/2019
    Report recurrent GLI1-ACTB gene fusions in a group of malignant mesenchymal neoplasms involving soft tissue, and occasionally bone, with an often nested epithelioid phenotype and strong S100 immunoreactivity.

    A Distinct Malignant Epithelioid Neoplasm With GLI1 Gene Rearrangements, Frequent S100 Protein Expression, and Metastatic Potential: Expanding the Spectrum of Pathologic Entities With ACTB/MALAT1/PTCH1-GLI1 Fusions.
    Antonescu CR, Agaram NP, Sung YS, Zhang L, Swanson D, Dickson BC., Free PMC Article

    03/2/2019
    All tested genes may be recommended as universal reference genes for data normalization in gene expression studies under different treatment regimens both in primary glioblastomas and astrocytomas of different grades (World Health Organization grades II-IV), respectively. In summary, ACTB and SDHA exhibited the best stability values and showed the lowest intergroup expression variability.

    ACTB and SDHA Are Suitable Endogenous Reference Genes for Gene Expression Studies in Human Astrocytomas Using Quantitative RT-PCR.
    Röhn G, Koch A, Krischek B, Stavrinou P, Goldbrunner R, Timmer M., Free PMC Article

    01/19/2019
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