U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination
    • Showing Current items.

    DKC1 dyskerin pseudouridine synthase 1 [ Homo sapiens (human) ]

    Gene ID: 1736, updated on 3-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Identifying and validating the roles of the cuproptosis-related gene DKC1 in cancer with a focus on esophageal carcinoma.

    Identifying and validating the roles of the cuproptosis-related gene DKC1 in cancer with a focus on esophageal carcinoma.
    Zhang D, Zhu Q, Huang X, Zhang B, Zhang J, Qin Y., Free PMC Article

    09/12/2024
    DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6.

    DKC1 aggravates gastric cancer cell migration and invasion through up-regulating the expression of TNFAIP6.
    Chen H, Wu Y, Jiang Y, Chen Z, Zheng T., Free PMC Article

    02/21/2024
    A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker.

    A pan-cancer analysis of Dyskeratosis congenita 1 (DKC1) as a prognostic biomarker.
    Liu XY, Tan Q, Li LX., Free PMC Article

    12/20/2023
    AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1.

    AC125611.3 promotes the progression of colon cancer by recruiting DKC1 to stabilize CTNNB1.
    Tang H, Dou Y, Meng Y, Lu Q, Liang L.

    10/10/2023
    New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond.

    New Insights into Dyskerin-CypA Interaction: Implications for X-Linked Dyskeratosis Congenita and Beyond.
    Belli V, Maiello D, Di Lorenzo C, Furia M, Vicidomini R, Turano M., Free PMC Article

    10/6/2023
    Evidence from a meta-analysis for the prognostic and clinicopathological importance of DKC1 in malignancies.

    Evidence from a meta-analysis for the prognostic and clinicopathological importance of DKC1 in malignancies.
    Zhang Q, Liu X, Zou Z, Zhou B.

    05/4/2023
    Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.

    Domain specific mutations in dyskerin disrupt 3' end processing of scaRNA13.
    Nagpal N, Tai AK, Nandakumar J, Agarwal S., Free PMC Article

    11/19/2022
    Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence.

    Human dyskerin binds to cytoplasmic H/ACA-box-containing transcripts affecting nuclear hormone receptor dependence.
    Zacchini F, Venturi G, De Sanctis V, Bertorelli R, Ceccarelli C, Santini D, Taffurelli M, Penzo M, Treré D, Inga A, Dassi E, Montanaro L., Free PMC Article

    08/27/2022
    Pseudogene fms-related tyrosine kinase 1 pseudogene 1 (FLT1P1) cooperates with RNA binding protein dyskeratosis congenita 1 (DKC1) to restrain trophoblast cell proliferation and angiogenesis by targeting fms-related tyrosine kinase 1 (FLT1) in preeclampsia.

    Pseudogene fms-related tyrosine kinase 1 pseudogene 1 (FLT1P1) cooperates with RNA binding protein dyskeratosis congenita 1 (DKC1) to restrain trophoblast cell proliferation and angiogenesis by targeting fms-related tyrosine kinase 1 (FLT1) in preeclampsia.
    Chi Z, Sun Y, Yu Z, Zhou F, Wang H, Zhang M., Free PMC Article

    02/19/2022
    Dual Inhibition of DKC1 and MEK1/2 Synergistically Restrains the Growth of Colorectal Cancer Cells.

    Dual Inhibition of DKC1 and MEK1/2 Synergistically Restrains the Growth of Colorectal Cancer Cells.
    Kan G, Wang Z, Sheng C, Chen G, Yao C, Mao Y, Chen S., Free PMC Article

    01/8/2022
    Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.

    Pulmonary fibrosis in dyskeratosis congenita: a case report with a PRISMA-compliant systematic review.
    Wang P, Xu Z., Free PMC Article

    01/1/2022
    LncRNA PCAT1 Interacts with DKC1 to Regulate Proliferation, Invasion and Apoptosis in NSCLC Cells via the VEGF/AKT/Bcl2/Caspase9 Pathway.

    LncRNA PCAT1 Interacts with DKC1 to Regulate Proliferation, Invasion and Apoptosis in NSCLC Cells via the VEGF/AKT/Bcl2/Caspase9 Pathway.
    Liu SY, Zhao ZY, Qiao Z, Li SM, Zhang WN., Free PMC Article

    12/25/2021
    Upregulation of miR126 inhibits podocyte injury in sepsis via EGFL6/DKC1 signaling pathway.

    Upregulation of miR‑126 inhibits podocyte injury in sepsis via EGFL6/DKC1 signaling pathway.
    Su J, Ding L.

    05/15/2021
    DKC1 is a transcriptional target of GATA1 and drives upregulation of telomerase activity in normal human erythroblasts.

    DKC1 is a transcriptional target of GATA1 and drives upregulation of telomerase activity in normal human erythroblasts.
    Richards LA, Kumari A, Knezevic K, Thoms JA, von Jonquieres G, Napier CE, Ali Z, O'Brien R, Marks-Bluth J, Maritz MF, Pickett HA, Morris J, Pimanda JE, MacKenzie KL., Free PMC Article

    05/8/2021
    The nucleolar-related protein Dyskerin pseudouridine synthase 1 (DKC1) predicts poor prognosis in breast cancer.

    The nucleolar-related protein Dyskerin pseudouridine synthase 1 (DKC1) predicts poor prognosis in breast cancer.
    Elsharawy KA, Mohammed OJ, Aleskandarany MA, Hyder A, El-Gammal HL, Abou-Dobara MI, Green AR, Dalton LW, Rakha EA., Free PMC Article

    03/28/2021
    Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita.

    Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita.
    Vieri M, Kirschner M, Tometten M, Abels A, Rolles B, Isfort S, Panse J, Brümmendorf TH, Beier F., Free PMC Article

    02/27/2021
    Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.

    Acute depletion of telomerase components DKC1 and NOP10 induces oxidative stress and disrupts ribosomal biogenesis via NPM1 and activation of the P53 pathway.
    Ibáñez-Cabellos JS, Seco-Cervera M, Picher-Latorre C, Pérez-Machado G, García-Giménez JL, Pallardó FV.

    01/9/2021
    Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.

    Pseudouridylation defect due to DKC1 and NOP10 mutations causes nephrotic syndrome with cataracts, hearing impairment, and enterocolitis.
    Balogh E, Chandler JC, Varga M, Tahoun M, Menyhárd DK, Schay G, Goncalves T, Hamar R, Légrádi R, Szekeres Á, Gribouval O, Kleta R, Stanescu H, Bockenhauer D, Kerti A, Williams H, Kinsler V, Di WL, Curtis D, Kolatsi-Joannou M, Hammid H, Szőcs A, Perczel K, Maka E, Toldi G, Sava F, Arrondel C, Kardos M, Fintha A, Hossain A, D'Arco F, Kaliakatsos M, Koeglmeier J, Mifsud W, Moosajee M, Faro A, Jávorszky E, Rudas G, Saied MH, Marzouk S, Kelen K, Götze J, Reusz G, Tulassay T, Dragon F, Mollet G, Motameny S, Thiele H, Dorval G, Nürnberg P, Perczel A, Szabó AJ, Long DA, Tomita K, Antignac C, Waters AM, Tory K., Free PMC Article

    10/24/2020
    DKC1 enhances angiogenesis by promoting HIF-1alpha transcription and facilitates metastasis in colorectal cancer.

    DKC1 enhances angiogenesis by promoting HIF-1α transcription and facilitates metastasis in colorectal cancer.
    Hou P, Shi P, Jiang T, Yin H, Chu S, Shi M, Bai J, Song J., Free PMC Article

    10/24/2020
    We showed the association of DKC1 with glioma progression and revealed the inhibitory role of DKC1 in glioma cell proliferation, migration, and invasion. This study may provide a valuable therapeutic strategy to help control the progression of gliomas.

    Increased DKC1 expression in glioma and its significance in tumor cell proliferation, migration and invasion.
    Miao FA, Chu K, Chen HR, Zhang M, Shi PC, Bai J, You YP.

    04/25/2020
    The result show dyskerin protein can have additional non-nuclear functions, either independently or interacting with each other, thus further strengthening the close relationship linking nucleolus to SG composition.

    A dynamic link between H/ACA snoRNP components and cytoplasmic stress granules.
    Belli V, Matrone N, Sagliocchi S, Incarnato R, Conte A, Pizzo E, Turano M, Angrisani A, Furia M.

    03/21/2020
    the dyskerin-human telomerase RNA (hTR) interaction, which is mediated by the canonical RNA binding domain (the PUA) and N-terminal residues of dyskerin, is crucial to prevent unchecked hTR degradation

    N-terminal residues of human dyskerin are required for interactions with telomerase RNA that prevent RNA degradation.
    MacNeil DE, Lambert-Lanteigne P, Autexier C., Free PMC Article

    12/7/2019
    DKC1 mutation is associated with X-chromosome-linked telomere biology disorder.

    Characterization of an X-chromosome-linked telomere biology disorder in females with DKC1 mutation.
    Hirvonen EAM, Peuhkuri S, Norberg A, Degerman S, Hannula-Jouppi K, Välimaa H, Kilpivaara O, Wartiovaara-Kautto U.

    06/1/2019
    Elevated reactive oxygen species levels in hepatocellular carcinoma modulate cytoplasmic PDIA3 levels, resulting in hepatocellular carcinoma cell survival through DKC1 up-regulation.

    Oxidatively Modified Protein-Disulfide Isomerase-Associated 3 Promotes Dyskerin Pseudouridine Synthase 1-Mediated Malignancy and Survival of Hepatocellular Carcinoma Cells.
    Ko E, Kim JS, Ju S, Seo HW, Chang Y, Kang JA, Park SG, Jung G.

    03/30/2019
    Study identified a novel hemizygous, non-synonymous but likely pathogenic variant [NM_001363.4: c.1054A > G: p.Thr352Ala] in the PUA domain of the DKC1 gene predisposing to dyskeratosis congenita.

    Dyskeratosis congenita with a novel genetic variant in the DKC1 gene: a case report.
    Ratnasamy V, Navaneethakrishnan S, Sirisena ND, Grüning NM, Brandau O, Thirunavukarasu K, Dagnall CL, McReynolds LJ, Savage SA, Dissanayake VHW., Free PMC Article

    03/2/2019
    firstprevious page of 4 nextlast