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    CCBE1 collagen and calcium binding EGF domains 1 [ Homo sapiens (human) ]

    Gene ID: 147372, updated on 2-Nov-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    The promotion of non-small cell lung cancer progression by collagen and calcium binding EGF domain 1 is mediated through the regulation of ERK/JNK/P38 phosphorylation by reactive oxygen species.

    The promotion of non-small cell lung cancer progression by collagen and calcium binding EGF domain 1 is mediated through the regulation of ERK/JNK/P38 phosphorylation by reactive oxygen species.
    Chen C, Tang D, Xu S, Xiang L, Wang B, Yao Y, Li Z, Lin S, Li S, Shi X, Gu C, Gao W.

    08/5/2024
    Neovascularization directed by CAVIN1/CCBE1/VEGFC confers TMZ-resistance in glioblastoma.

    Neovascularization directed by CAVIN1/CCBE1/VEGFC confers TMZ-resistance in glioblastoma.
    Wang M, Xia D, Xu D, Yin Y, Xu F, Zhang B, Li K, Yang Z, Zou J.

    01/16/2024
    The YAP-TEAD4 complex promotes tumor lymphangiogenesis by transcriptionally upregulating CCBE1 in colorectal cancer.

    The YAP-TEAD4 complex promotes tumor lymphangiogenesis by transcriptionally upregulating CCBE1 in colorectal cancer.
    Song J, Dang X, Shen X, Liu Y, Gu J, Peng X, Huang Z, Hong W, Cui L, Liu CY., Free PMC Article

    05/17/2023
    CCBE1 promotes mitochondrial fusion by inhibiting the TGFbeta-DRP1 axis to prevent the progression of hepatocellular carcinoma.

    CCBE1 promotes mitochondrial fusion by inhibiting the TGFβ-DRP1 axis to prevent the progression of hepatocellular carcinoma.
    Tian GA, Xu WT, Zhang XL, Zhou YQ, Sun Y, Hu LP, Jiang SH, Nie HZ, Zhang ZG, Zhu L, Li J, Yang XM, Yao LL.

    03/22/2023
    The Lymphangiogenic Factor CCBE1 Promotes Angiogenesis and Tumor Growth in Colorectal Cancer.

    The Lymphangiogenic Factor CCBE1 Promotes Angiogenesis and Tumor Growth in Colorectal Cancer.
    Ding W, Tang W, Zhi J.

    06/25/2022
    Hsa_circ_0076931 suppresses malignant biological properties, down-regulates miR-6760-3p through direct binding, and up-regulates CCBE1 in glioma.

    Hsa_circ_0076931 suppresses malignant biological properties, down-regulates miR-6760-3p through direct binding, and up-regulates CCBE1 in glioma.
    Ke Y, Su S, Duan C, Wang Y, Cao G, Fang Z, Tuo Y, Li W, Wang Z, Zhang S., Free PMC Article

    02/5/2022
    miR-942-5p Inhibits Proliferation, Metastasis, and Epithelial-Mesenchymal Transition in Colorectal Cancer by Targeting CCBE1.

    miR-942-5p Inhibits Proliferation, Metastasis, and Epithelial-Mesenchymal Transition in Colorectal Cancer by Targeting CCBE1.
    Zhou L, Chen Q, Wu J, Yang J, Yin H, Tian J, Gong L, Kong D, Tao M., Free PMC Article

    06/5/2021
    A Novel RNA-Seq-Based Model for Preoperative Prediction of Lymph Node Metastasis in Oral Squamous Cell Carcinoma.

    A Novel RNA-Seq-Based Model for Preoperative Prediction of Lymph Node Metastasis in Oral Squamous Cell Carcinoma.
    Qiao B, Zhao M, Wu J, Wu H, Zhao Y, Meng F, Tian Y, Wang S, Shi J, Zhang H., Free PMC Article

    05/8/2021
    Next-generation sequencing of 9 Chinese children with early-onset protein-losing enteropathy showed causative CCBE1 mutations (c.521C>T/c.271C>T) in 1 case.

    Phenotype and Genotype of a Cohort of Chinese Children with Early-Onset Protein-Losing Enteropathy.
    Ye Z, Huang Y, Wang Y, Lu J, Wu J, Yu Z.

    04/11/2020
    Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1.

    Efficient activation of the lymphangiogenic growth factor VEGF-C requires the C-terminal domain of VEGF-C and the N-terminal domain of CCBE1.
    Jha SK, Rauniyar K, Karpanen T, Leppänen VM, Brouillard P, Vikkula M, Alitalo K, Jeltsch M., Free PMC Article

    01/12/2019
    the present results demonstrated that CCBE1 expression was downregulated in lung cancer, particularly in the presence of LNM.

    Clinical significance of CCBE1 expression in lung cancer.
    Li P, Cong Z, Qiang Y, Xiong L, Tang L, Zhang Y, Wu H, Yi J, Jing H, Li D, Shen Y., Free PMC Article

    07/28/2018
    these data indicated that CCBE1 may be served as a new predictor of prognosis in post-operative gastrointestinal stromal tumor patients and may play an important role in stimulating tumor progression

    CCBE1 promotes GIST development through enhancing angiogenesis and mediating resistance to imatinib.
    Tian GA, Zhu CC, Zhang XX, Zhu L, Yang XM, Jiang SH, Li RK, Tu L, Wang Y, Zhuang C, He P, Li Q, Cao XY, Cao H, Zhang ZG., Free PMC Article

    05/5/2018
    We identify CCBE1 as a direct target of miR-330-3p, and show that knockdown of CCBE1 results in a greater invasive capacity. Accordingly, in breast cancer patients CCBE1 is frequently downregulated, and its loss is associated with reduced distant relapse-free and overall survival.

    Targeting of CCBE1 by miR-330-3p in human breast cancer promotes metastasis.
    Mesci A, Huang X, Taeb S, Jahangiri S, Kim Y, Fokas E, Bruce J, Leong HS, Liu SK., Free PMC Article

    08/12/2017
    characterization of Hennekam Syndrome phenotypes in two Turkish siblings with protein mutation

    A Multiplex Kindred with Hennekam Syndrome due to Homozygosity for a CCBE1 Mutation that does not Prevent Protein Expression.
    Jackson CC, Best L, Lorenzo L, Casanova JL, Wacker J, Bertz S, Agaimy A, Harrer T., Free PMC Article

    10/22/2016
    Collagen domains of CCBE1 are crucial for the activation of VEGFC in vitro and in vivo. The EGF domains of CCBE1 are dispensable for regulation of VEGFC processing in vitro, however, they are necessary for full lymphangiogenic activity of CCBE1 in vivo.

    Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain.
    Roukens MG, Peterson-Maduro J, Padberg Y, Jeltsch M, Leppänen VM, Bos FL, Alitalo K, Schulte-Merker S, Schulte D.

    07/25/2015
    CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation.

    CCBE1 enhances lymphangiogenesis via A disintegrin and metalloprotease with thrombospondin motifs-3-mediated vascular endothelial growth factor-C activation.
    Jeltsch M, Jha SK, Tvorogov D, Anisimov A, Leppänen VM, Holopainen T, Kivelä R, Ortega S, Kärpanen T, Alitalo K.

    10/4/2014
    Both siblings harbored a homozygous mutation in CCBE1.

    CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
    Shah S, Conlin LK, Gomez L, Aagenaes Ø, Eiklid K, Knisely AS, Mennuti MT, Matthews RP, Spinner NB, Bull LN., Free PMC Article

    07/19/2014
    The study has shown that CCBE1 mutations are not a major contributor to non-immune hydrops fetalis.

    CCBE1 mutations can cause a mild, atypical form of generalized lymphatic dysplasia but are not a common cause of non-immune hydrops fetalis.
    Connell FC, Kalidas K, Ostergaard P, Brice G, Murday V, Mortimer PS, Jeffrey I, Jeffery S, Mansour S.

    05/12/2012
    Human CCBE1 strongly enhances vascular endothelial growth factor-C-mediated lymphangiogenesis in a corneal micropocket assay

    CCBE1 is essential for mammalian lymphatic vascular development and enhances the lymphangiogenic effect of vascular endothelial growth factor-C in vivo.
    Bos FL, Caunt M, Peterson-Maduro J, Planas-Paz L, Kowalski J, Karpanen T, van Impel A, Tong R, Ernst JA, Korving J, van Es JH, Lammert E, Duckers HJ, Schulte-Merker S.

    10/22/2011
    Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)

    Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
    Rose JE, Behm FM, Drgon T, Johnson C, Uhl GR., Free PMC Article

    06/30/2010
    Loss of CCBE1 expression may promote ovarian carcinogenesis by enhancing migration & cell survival. CCBE1 is a new candidate tumour suppressor in ovarian cancer.

    Collagen and calcium-binding EGF domains 1 is frequently inactivated in ovarian cancer by aberrant promoter hypermethylation and modulates cell migration and survival.
    Barton CA, Gloss BS, Qu W, Statham AL, Hacker NF, Sutherland RL, Clark SJ, O'Brien PM., Free PMC Article

    02/15/2010
    Homozygous cysteine to serine change and SNPS in CCBE1 were identified patients.

    Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia.
    Connell F, Kalidas K, Ostergaard P, Brice G, Homfray T, Roberts L, Bunyan DJ, Mitton S, Mansour S, Mortimer P, Jeffery S, Lymphoedema Consortium.

    02/15/2010
    Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans

    Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans.
    Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC.

    01/21/2010
    Clinical trial and genome-wide association study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)

    Molecular genetics of successful smoking cessation: convergent genome-wide association study results.
    Uhl GR, Liu QR, Drgon T, Johnson C, Walther D, Rose JE, David SP, Niaura R, Lerman C., Free PMC Article

    12/2/2009
    Observational study of gene-disease association. (HuGE Navigator)

    Multilocus analysis of GAW15 NARAC chromosome 18 case-control data.
    Browning SR, Thomas J., Free PMC Article

    05/21/2008
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