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    SKI SKI proto-oncogene [ Homo sapiens (human) ]

    Gene ID: 6497, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.

    Nucleotide substitutions at the p.Gly117 and p.Thr180 mutational hot-spots of SKI alter molecular dynamics and may affect cell cycle.
    Fusco C, Nardella G, Morlino S, Micale L, Tragni V, Agolini E, Novelli A, Massuras S, Giambra V, Pierri CL, Castori M.

    01/10/2024
    Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.

    Triplications of chromosome 1p36.3, including the genes GABRD and SKI, are associated with a developmental disorder and a facial gestalt.
    Pelgrims E, Lynch SA, Hannes L, Hoffer MJV, Melotte C, Van Haeringen A, Swillen A, Breckpot J.

    06/13/2023
    Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-beta responses through SKI stabilization.

    Mutations in SKI in Shprintzen-Goldberg syndrome lead to attenuated TGF-β responses through SKI stabilization.
    Gori I, George R, Purkiss AG, Strohbuecker S, Randall RA, Ogrodowicz R, Carmignac V, Faivre L, Joshi D, Kjær S, Hill CS., Free PMC Article

    01/29/2022
    Knockdown of Ski decreases osteosarcoma cell proliferation and migration by suppressing the PI3K/Akt signaling pathway.

    Knockdown of Ski decreases osteosarcoma cell proliferation and migration by suppressing the PI3K/Akt signaling pathway.
    Zhao X, Fang Y, Wang X, Yang Z, Li D, Tian M, Kang P., Free PMC Article

    10/24/2020
    Ski, SnoN, and Smad4 seem to play a role in oral squamous cell carcinoma oncogenesis, and it is likely that Ski and SnoN functions may take place independent of Smad4.

    Are Ski and SnoN Involved in the Tumorigenesis of Oral Squamous Cell Carcinoma Through Smad4?
    Alaeddini M, Etemad-Moghadam S.

    07/25/2020
    new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.

    A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.
    Arnaud P, Racine C, Hanna N, Thevenon J, Alessandri JL, Bonneau D, Clayton-Smith J, Coubes C, Delobel B, Dupuis-Girod S, Gouya L, Odent S, Carmignac V, Thauvin-Robinet C, Le Goff C, Jondeau G, Boileau C, Faivre L.

    03/28/2020
    c-Ski expression in cardiac muscle cells could be down-regulated by TGF-b1. Silencing of c-Ski gene was accompanied by down-regulation of E-cadherin, up-regulation of a-SMA and/or FN and Smad3 phosphorylation induced by TGF-b1, promoting EMT process.

    Silencing of c-Ski augments TGF-b1-induced epithelial-mesenchymal transition in cardiomyocyte H9C2 cells.
    Ling J, Cai Z, Jin W, Zhuang X, Kan L, Wang F, Ye X., Free PMC Article

    12/7/2019
    Data demonstrates gene expression changes in differentially methylated SKI gene in patients with age-related macular degeneration.

    Whole-genome methylation profiling of the retinal pigment epithelium of individuals with age-related macular degeneration reveals differential methylation of the SKI, GTF2H4, and TNXB genes.
    Porter LF, Saptarshi N, Fang Y, Rathi S, den Hollander AI, de Jong EK, Clark SJ, Bishop PN, Olsen TW, Liloglou T, Chavali VRM, Paraoan L., Free PMC Article

    08/24/2019
    Over-expressed c-Ski could enhance cell viability, promote cell invasion, and migration of gastric cancer associated fibroblasts.

    Overexpression of c-Ski promotes cell proliferation, invasion and migration of gastric cancer associated fibroblasts.
    Zhang H, Wang JS, Chen XG, Kang L, Lin MB.

    08/10/2019
    Ski is required for the fitness of hematopoietic stem cells , in which it suppresses TGF-beta signaling and abnormal RNA splicing. Active TGF-beta signaling and abnormal RNA splicing occur in a subset of patients with myelodysplastic syndrome who exhibit loss of SKI because of miR-21.

    SKI controls MDS-associated chronic TGF-β signaling, aberrant splicing, and stem cell fitness.
    Muench DE, Ferchen K, Velu CS, Pradhan K, Chetal K, Chen X, Weirauch MT, Colmenares C, Verma A, Salomonis N, Grimes HL., Free PMC Article

    08/3/2019
    Our work demonstrates for the first time the predominant co-repressive function of SKI in acute myeloid leukemia cells on a genome-wide scale and uncovers the transcription factor RUNX1 as an important mediator of SKI-dependent transcriptional repression.

    Combined cistrome and transcriptome analysis of SKI in AML cells identifies SKI as a co-repressor for RUNX1.
    Feld C, Sahu P, Frech M, Finkernagel F, Nist A, Stiewe T, Bauer UM, Neubauer A., Free PMC Article

    07/27/2019
    Findings suggest that c-Ski suppresses transforming growth factor beta (TGF-beta) signaling in clear cell renal carcinoma (ccRCC) cells, which, in turn, attenuates the tumor-suppressive effect of TGF-beta.

    c-Ski accelerates renal cancer progression by attenuating transforming growth factor β signaling.
    Taguchi L, Miyakuni K, Morishita Y, Morikawa T, Fukayama M, Miyazono K, Ehata S., Free PMC Article

    06/29/2019
    The correlation between serum concentrations of IgG4 and SKI methylation levels suggest SKI might be involved in the pathogenesis of autoimmune pancreatitis (AIP).

    Promoter hypomethylation of SKI in autoimmune pancreatitis.
    Kinugawa Y, Uehara T, Matsuda K, Kobayashi Y, Nakajima T, Hamano H, Kawa S, Higuchi K, Hosaka N, Shiozawa S, Ishigame H, Nakamura T, Maruyama Y, Nakazawa K, Nakaguro M, Sano K, Ota H.

    10/20/2018
    A microRNA miR-155 regulates transforming growth factor-beta TGF-beta-induced human coronary artery endothelial cells fibrogenic endothelial-mesenchymal transition via the regulator of TGF-beta signaling c-Ski to affect cardiac fibrosis, and miR-155/c-Ski may represent novel biomarkers and therapeutic targets for cardiac fibrosis.

    The mechanism of TGF-β/miR-155/c-Ski regulates endothelial-mesenchymal transition in human coronary artery endothelial cells.
    Wang J, He W, Xu X, Guo L, Zhang Y, Han S, Shen D., Free PMC Article

    06/9/2018
    Study identified Ski as a functional tumor suppressor with frequent epigenetic inactivation in lung cancer.

    Ski regulates Smads and TAZ signaling to suppress lung cancer progression.
    Xie M, Wu X, Zhang J, Zhang J, Li X.

    10/7/2017
    Transforming Growth Factor beta inhibitor peptide P144 downregulates SKI and an upregulates SMAD7 at both transcriptional and translational levels in glioblastoma cell lines.

    P144, a Transforming Growth Factor beta inhibitor peptide, generates antitumoral effects and modifies SMAD7 and SKI levels in human glioblastoma cell lines.
    Gallo-Oller G, Vollmann-Zwerenz A, Meléndez B, Rey JA, Hau P, Dotor J, Castresana JS.

    07/29/2017
    miR-1908 had a positive role in scar formation by suppressing Ski-mediated inflammation and fibroblast proliferation in vitro and in vivo.

    MiR-1908 promotes scar formation post-burn wound healing by suppressing Ski-mediated inflammation and fibroblast proliferation.
    Xie C, Shi K, Zhang X, Zhao J, Yu J.

    06/3/2017
    Overexpression of Ski wild type, but not S326D and S383D mutants inhibited centrosome amplification and cellular transformation induced by AURKA.

    The Ski Protein is Involved in the Transformation Pathway of Aurora Kinase A.
    Rivas S, Armisén R, Rojas DA, Maldonado E, Huerta H, Tapia JC, Espinoza J, Colombo A, Michea L, Hayman MJ, Marcelain K.

    11/5/2016
    our findings suggest that Ski represses TGF-b-induced EMT and invasion by inhibiting SMAD-dependent signaling in non-small cell lung cancer

    Ski prevents TGF-β-induced EMT and cell invasion by repressing SMAD-dependent signaling in non-small cell lung cancer.
    Yang H, Zhan L, Yang T, Wang L, Li C, Zhao J, Lei Z, Li X, Zhang HT.

    03/19/2016
    Ski regulates Hippo and TAZ signaling to suppress breast cancer progression.

    Ski regulates Hippo and TAZ signaling to suppress breast cancer progression.
    Rashidian J, Le Scolan E, Ji X, Zhu Q, Mulvihill MM, Nomura D, Luo K., Free PMC Article

    10/10/2015
    Eight recurrent and three novel SKI mutations from eleven SGS patients were located in the R-SMAD binding domain, except for one in the DHD domain.

    The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen-Goldberg syndrome.
    Schepers D, Doyle AJ, Oswald G, Sparks E, Myers L, Willems PJ, Mansour S, Simpson MA, Frysira H, Maat-Kievit A, Van Minkelen R, Hoogeboom JM, Mortier GR, Titheradge H, Brueton L, Starr L, Stark Z, Ockeloen C, Lourenco CM, Blair E, Hobson E, Hurst J, Maystadt I, Destrée A, Girisha KM, Miller M, Dietz HC, Loeys B, Van Laer L., Free PMC Article

    10/3/2015
    acetaldehyde up-regulates COL1A2 by modulating the role of Ski and the expression of SMADs 3, 4, and 7.

    Mechanisms of action of acetaldehyde in the up-regulation of the human α2(I) collagen gene in hepatic stellate cells: key roles of Ski, SMAD3, SMAD4, and SMAD7.
    Reyes-Gordillo K, Shah R, Arellanes-Robledo J, Hernández-Nazara Z, Rincón-Sánchez AR, Inagaki Y, Rojkind M, Lakshman MR., Free PMC Article

    12/20/2014
    c-Ski is an important regulator in the activation of CAFs and may serve as a potential therapeutic target to block breast cancer progression.

    c-Ski activates cancer-associated fibroblasts to regulate breast cancer cell invasion.
    Wang L, Hou Y, Sun Y, Zhao L, Tang X, Hu P, Yang J, Zeng Z, Yang G, Cui X, Liu M., Free PMC Article

    06/28/2014
    Ski expression is a novel negative feedback mechanism acting on retinoic acid signaling

    Expression of Ski can act as a negative feedback mechanism on retinoic acid signaling.
    Melling MA, Friendship CR, Shepherd TG, Drysdale TA.

    01/4/2014
    Overall, these studies demonstrate altered Ski protein levels, degradation and localization in human papillomavirus16-transformed human keratinocytes and in cervical cancer.

    Ski protein levels increase during in vitro progression of HPV16-immortalized human keratinocytes and in cervical cancer.
    Chen Y, Pirisi L, Creek KE., Free PMC Article

    11/16/2013
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