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    PLEC plectin [ Homo sapiens (human) ]

    Gene ID: 5339, updated on 4-Jan-2025

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    [Plectin Promotes the Migration of Hepatocellular Carcinoma Cells Through Inducing F-actin Polymerization].

    [Plectin Promotes the Migration of Hepatocellular Carcinoma Cells Through Inducing F-actin Polymerization].
    Xu R, Yang L, Song G., Free PMC Article

    03/12/2024
    Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion.

    Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion.
    Zrelski MM, Hösele S, Kustermann M, Fichtinger P, Kah D, Athanasiou I, Esser PR, Wagner A, Herzog R, Kratochwill K, Goldmann WH, Kiritsi D, Winter L.

    02/26/2024
    Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.

    Desmin and Plectin Recruitment to the Nucleus and Nuclei Orientation Are Lost in Emery-Dreifuss Muscular Dystrophy Myoblasts Subjected to Mechanical Stimulation.
    Cenni V, Evangelisti C, Santi S, Sabatelli P, Neri S, Cavallo M, Lattanzi G, Mattioli E., Free PMC Article

    02/9/2024
    Anterior blepharitis is associated with elevated plectin levels consistent with a pronounced intracellular response.

    Anterior blepharitis is associated with elevated plectin levels consistent with a pronounced intracellular response.
    Muttuvelu DV, Cehofski LJ, Muhammad MGF, Chen X, Utheim TP, Khan AM, Abduljabar AB, Kristensen K, Rasmussen MLR, Vorum H, Heegaard S, Honoré B.

    09/6/2023
    Role of plectin and its interacting molecules in cancer.

    Role of plectin and its interacting molecules in cancer.
    Gao K, Gao Z, Xia M, Li H, Di J.

    08/30/2023
    Novel biallelic variants in the PLEC gene are associated with severe hearing loss.

    Novel biallelic variants in the PLEC gene are associated with severe hearing loss.
    Zhang T, Xu Z, Zheng D, Wang X, He J, Zhang L, Zallocchi M.

    07/14/2023
    The Versatility of Plectin in Cancer: A Pan-Cancer Analysis on Potential Diagnostic and Prognostic Impacts of Plectin Isoforms.

    The Versatility of Plectin in Cancer: A Pan-Cancer Analysis on Potential Diagnostic and Prognostic Impacts of Plectin Isoforms.
    Gundesli H, Kori M, Arga KY.

    06/22/2023
    Z-Disk-Associated Plectin (Isoform 1d): Spatial Arrangement, Interaction Partners, and Role in Filamin C Homeostasis.

    Z-Disk-Associated Plectin (Isoform 1d): Spatial Arrangement, Interaction Partners, and Role in Filamin C Homeostasis.
    Winter L, Staszewska-Daca I, Zittrich S, Elhamine F, Zrelski MM, Schmidt K, Fischer I, Jüngst C, Schauss A, Goldmann WH, Stehle R, Wiche G., Free PMC Article

    05/24/2023
    Plectin Downregulation Inhibits Migration and Suppresses Epithelial Mesenchymal Transformation of Hepatocellular Carcinoma Cells via ERK1/2 Signaling.

    Plectin Downregulation Inhibits Migration and Suppresses Epithelial Mesenchymal Transformation of Hepatocellular Carcinoma Cells via ERK1/2 Signaling.
    Xu R, He S, Ma D, Liang R, Luo Q, Song G., Free PMC Article

    01/14/2023
    Mutation update: The spectra of PLEC sequence variants and related plectinopathies.

    Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
    Vahidnezhad H, Youssefian L, Harvey N, Tavasoli AR, Saeidian AH, Sotoudeh S, Varghaei A, Mahmoudi H, Mansouri P, Mozafari N, Zargari O, Zeinali S, Uitto J., Free PMC Article

    12/17/2022
    Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.

    Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.
    Vishwanathan GB, Srinivasa M, Batrani M, Kubba A, Ghosh S, Gupta D, Jayashankar C, Rai A, Jangond A, Inamadar A, Hiremagalore R.

    07/23/2022
    Plectin-mediated cytoskeletal crosstalk controls cell tension and cohesion in epithelial sheets.

    Plectin-mediated cytoskeletal crosstalk controls cell tension and cohesion in epithelial sheets.
    Prechova M, Adamova Z, Schweizer AL, Maninova M, Bauer A, Kah D, Meier-Menches SM, Wiche G, Fabry B, Gregor M., Free PMC Article

    02/26/2022
    Autophagosome-lysosome fusion is facilitated by plectin-stabilized actin and keratin 8 during macroautophagic process.

    Autophagosome-lysosome fusion is facilitated by plectin-stabilized actin and keratin 8 during macroautophagic process.
    Son S, Baek A, Lee JH, Kim DE., Free PMC Article

    02/5/2022
    Plectin in Cancer: From Biomarker to Therapeutic Target.

    Plectin in Cancer: From Biomarker to Therapeutic Target.
    Perez SM, Brinton LT, Kelly KA., Free PMC Article

    11/22/2021
    Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC.

    Multi-tissue epigenetic analysis of the osteoarthritis susceptibility locus mapping to the plectin gene PLEC.
    Sorial AK, Hofer IMJ, Tselepi M, Cheung K, Parker E, Deehan DJ, Rice SJ, Loughlin J., Free PMC Article

    09/25/2021
    Plectin is a regulator of prostate cancer growth and metastasis.

    Plectin is a regulator of prostate cancer growth and metastasis.
    Buckup M, Rice MA, Hsu EC, Garcia-Marques F, Liu S, Aslan M, Bermudez A, Huang J, Pitteri SJ, Stoyanova T., Free PMC Article

    07/31/2021
    Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.

    Four Individuals with a Homozygous Mutation in Exon 1f of the PLEC Gene and Associated Myasthenic Features.
    Mroczek M, Durmus H, Töpf A, Parman Y, Straub V., Free PMC Article

    03/20/2021
    We conclude that the phenotype caused variants in PLEC1 and ITGB4 can be markedly dominated by ACC. Especially if pyloric atresia is present, but also if it is absent, these genes should be considered in newborns with marked and widespread ACC.

    Widespread aplasia cutis congenita in sibs with PLEC1 and ITGB4 variants.
    Kariminejad A, Vahidnezhad H, Ghaderi-Sohi S, Ghannadan AR, Youssefian L, Parsimehr E, Faraji Zonooz M, Kariminejad MH, Uitto J, Najmabadi H, Hennekam RC.

    08/1/2020
    PLEC encodes plectin, a cytoskeletal protein that maintains tissue integrity. GRINA encodes TMBIM3, which regulates cell survival. We hypothesized that in a joint predisposed to Osteoarthritis (OA), expression of these genes alters to combat aberrant biomechanics and is epigenetically regulated. However, carriage of the OA risk-conferring allele at this locus hinders this response and contributes to disease development.

    Prioritization of PLEC and GRINA as Osteoarthritis Risk Genes Through the Identification and Characterization of Novel Methylation Quantitative Trait Loci.
    Rice SJ, Tselepi M, Sorial AK, Aubourg G, Shepherd C, Almarza D, Skelton AJ, Pangou I, Deehan D, Reynard LN, Loughlin J., Free PMC Article

    02/1/2020
    High PLEC expression is associated with squamous cell carcinoma in Paranasal Sinus Neoplasms.

    Putative biomarkers of malignant transformation of sinonasal inverted papilloma into squamous cell carcinoma.
    Yang Z, Zhang Y, Wang X, Huang J, Guo W, Wei P, Li G, Wang Z, Huang Z, Zhang L., Free PMC Article

    12/14/2019
    40/359 arrhythmogenic right ventricular cardiomyopathy (ARVC) patients carried 1+ rare PLEC variants but rare variants also seem to occur frequently in the control population and no difference was found in the prevalence of rare PLEC variants in ARVC patients with/without desmosomal likely pathogenic/pathogenic variant. Decreased plectin junctional localization in myocardial tissue was found in 5 variant ARVC patients.

    No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
    Hoorntje ET, Posafalvi A, Syrris P, van der Velde KJ, Bolling MC, Protonotarios A, Boven LG, Amat-Codina N, Groeneweg JA, Wilde AA, Sobreira N, Calkins H, Hauer RNW, Jonkman MF, McKenna WJ, Elliott PM, Sinke RJ, van den Berg MP, Chelko SP, James CA, van Tintelen JP, Judge DP, Jongbloed JDH., Free PMC Article

    02/16/2019
    Three of them [PLEC (OR = 6.28, p = 6.42 x 10(-23) ) (p.Arg2016Trp), EXO5 (OR = 3.37, p = 4.82 x 10(-09) ) (p.Arg344AlafsTer10) and DNAH7 (OR = 1.64, p = 0.048)] were replicated as potential candidates.

    Whole exome sequencing identifies PLEC, EXO5 and DNAH7 as novel susceptibility genes in testicular cancer.
    Paumard-Hernández B, Calvete O, Inglada Pérez L, Tejero H, Al-Shahrour F, Pita G, Barroso A, Carlos Triviño J, Urioste M, Valverde C, González Billalabeitia E, Quiroga V, Francisco Rodríguez Moreno J, Fernández Aramburo A, López C, Maroto P, Sastre J, José Juan Fita M, Duran I, Lorenzo-Lorenzo I, Iranzo P, García Del Muro X, Ros S, Zambrana F, María Autran A, Benítez J.

    01/26/2019
    The study has identified two mutations in two large consanguineous pedigrees. Identification of novel variants in the LAMA3 and PLEC genes will expand the mutation spectrum and also help in genetic counselling of patients in the Pakistani population.

    Novel autosomal recessive LAMA3 and PLEC variants underlie junctional epidermolysis bullosa generalized intermediate and epidermolysis bullosa simplex with muscular dystrophy in two consanguineous families.
    Ahmad F, Shah K, Umair M, Jan A, Irfanullah, Khan S, Muhammad D, Basit S, Wakil SM, Ramzan K, Ahmad W.

    12/22/2018
    These findings extend current knowledge of the mutation spectrum of the PLEC gene associated with limbgirdle muscular dystrophy 2Q.

    Novel compound heterozygous PLEC mutations lead to early‑onset limb‑girdle muscular dystrophy 2Q.
    Zhong J, Chen G, Dang Y, Liao H, Zhang J, Lan D.

    02/17/2018
    The Structure of the Plakin Domain of Plectin Reveals an Extended Rod-like Shape.

    The Structure of the Plakin Domain of Plectin Reveals an Extended Rod-like Shape.
    Ortega E, Manso JA, Buey RM, Carballido AM, Carabias A, Sonnenberg A, de Pereda JM., Free PMC Article

    05/20/2017
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