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    CSMD1 CUB and Sushi multiple domains 1 [ Homo sapiens (human) ]

    Gene ID: 64478, updated on 24-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

    Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.
    Werren EA, Peirent ER, Jantti H, Guxholli A, Srivastava KR, Orenstein N, Narayanan V, Wiszniewski W, Dawidziuk M, Gawlinski P, Umair M, Khan A, Khan SN, Geneviève D, Lehalle D, van Gassen KLI, Giltay JC, Oegema R, van Jaarsveld RH, Rafiullah R, Rappold GA, Rabin R, Pappas JG, Wheeler MM, Bamshad MJ, Tsan YC, Johnson MB, Keegan CE, Srivastava A, Bielas SL., Free PMC Article

    09/20/2024
    CSMD1 rs10503253 increases schizophrenia risk in a Tunisian population-group.

    CSMD1 rs10503253 increases schizophrenia risk in a Tunisian population-group.
    Mihoub O, Ben Chaaben A, Boukouaci W, Lajnef M, Ayari F, El Kefi H, Ben Ammar H, Abazza H, El Hechmi Z, Guemira F, Leboyer M, Tamouza R, Kharrat M.

    08/14/2024
    CSMD1 regulates brain complement activity and circuit development.

    CSMD1 regulates brain complement activity and circuit development.
    Baum ML, Wilton DK, Fox RG, Carey A, Hsu YH, Hu R, Jäntti HJ, Fahey JB, Muthukumar AK, Salla N, Crotty W, Scott-Hewitt N, Bien E, Sabatini DA, Lanser TB, Frouin A, Gergits F, Håvik B, Gialeli C, Nacu E, Lage K, Blom AM, Eggan K, McCarroll SA, Johnson MB, Stevens B.

    06/18/2024
    Tumor suppressor role of the complement inhibitor CSMD1 and its role in TNF-induced neuroinflammation in gliomas.

    Tumor suppressor role of the complement inhibitor CSMD1 and its role in TNF-induced neuroinflammation in gliomas.
    Tuysuz EC, Mourati E, Rosberg R, Moskal A, Gialeli C, Johansson E, Governa V, Belting M, Pietras A, Blom AM., Free PMC Article

    04/5/2024
    The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases.

    The Diverse Role of CUB and Sushi Multiple Domains 1 (CSMD1) in Human Diseases.
    Ermis Akyuz E, Bell SM., Free PMC Article

    01/11/2023
    CSMD1 suppresses cancer progression by inhibiting proliferation, epithelial-mesenchymal transition, chemotherapy-resistance and inducing immunosuppression in esophageal squamous cell carcinoma.

    CSMD1 suppresses cancer progression by inhibiting proliferation, epithelial-mesenchymal transition, chemotherapy-resistance and inducing immunosuppression in esophageal squamous cell carcinoma.
    Wang X, Chen X, Liu Y, Huang S, Ding J, Wang B, Dong P, Sun Z, Chen L.

    06/25/2022
    New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.

    New Insight into the human genetic diversity in North African populations by genotyping of SNPs in DRD3, CSMD1 and NRG1 genes.
    Mestiri S, Boussetta S, Pakstis AJ, El Kamel S, Ben Ammar El Gaaied A, Kidd KK, Cherni L., Free PMC Article

    05/7/2022
    CSMD1 Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer.

    CSMD1 Mutations Are Associated with Increased Mutational Burden, Favorable Prognosis, and Anti-Tumor Immunity in Gastric Cancer.
    Huang T, Liang Y, Zhang H, Chen X, Wei H, Sun W, Wang Y., Free PMC Article

    02/19/2022
    Complement inhibitor CSMD1 modulates epidermal growth factor receptor oncogenic signaling and sensitizes breast cancer cells to chemotherapy.

    Complement inhibitor CSMD1 modulates epidermal growth factor receptor oncogenic signaling and sensitizes breast cancer cells to chemotherapy.
    Gialeli C, Tuysuz EC, Staaf J, Guleed S, Paciorek V, Mörgelin M, Papadakos KS, Blom AM., Free PMC Article

    01/15/2022
    Inhibition of CUB and sushi multiple domains 1 (CSMD1) expression by miRNA-190a-3p enhances hypertrophic scar-derived fibroblast migration in vitro.

    Inhibition of CUB and sushi multiple domains 1 (CSMD1) expression by miRNA-190a-3p enhances hypertrophic scar-derived fibroblast migration in vitro.
    Gu S, Huang X, Xu X, Liu Y, Khoong Y, Zhang Z, Li H, Gao Y, Zan T., Free PMC Article

    09/18/2021
    Combined identification of ARID1A, CSMD1, and SENP3 as effective prognostic biomarkers for hepatocellular carcinoma.

    Combined identification of ARID1A, CSMD1, and SENP3 as effective prognostic biomarkers for hepatocellular carcinoma.
    Zhao Y, Yang B, Chen D, Zhou X, Wang M, Jiang J, Wei L, Chen Z., Free PMC Article

    07/24/2021
    Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action.

    Pharmacogenomics of aromatase inhibitors in postmenopausal breast cancer and additional mechanisms of anastrozole action.
    Cairns J, Ingle JN, Dudenkov TM, Kalari KR, Carlson EE, Na J, Buzdar AU, Robson ME, Ellis MJ, Goss PE, Shepherd LE, Goodnature B, Goetz MP, Weinshilboum RM, Li H, Bari MG, Wang L., Free PMC Article

    06/12/2021
    A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder.

    A joint study of whole exome sequencing and structural MRI analysis in major depressive disorder.
    Zhang Y, Li M, Wang Q, Hsu JS, Deng W, Ma X, Ni P, Zhao L, Tian Y, Sham PC, Li T.

    01/2/2021
    Mutations within CSMD1 are associated with infertility.

    Rare mutations in the complement regulatory gene CSMD1 are associated with male and female infertility.
    Lee AS, Rusch J, Lima AC, Usmani A, Huang N, Lepamets M, Vigh-Conrad KA, Worthington RE, Mägi R, Wu X, Aston KI, Atkinson JP, Carrell DT, Hess RA, O'Bryan MK, Conrad DF., Free PMC Article

    02/8/2020
    The expression levels of CSMD1, in the peripheral blood of Han Chinese, are correlated with the development and treatment of schizophrenia.

    Altered expression of the CSMD1 gene in the peripheral blood of schizophrenia patients.
    Liu Y, Fu X, Tang Z, Li C, Xu Y, Zhang F, Zhou D, Zhu C., Free PMC Article

    01/25/2020
    CSMD1-related gene signatures are associated with the prognosis of HNSCC patients.

    Clinical Significance of CUB and Sushi Multiple Domains 1 Inactivation in Head and Neck Squamous Cell Carcinoma.
    Jung AR, Eun YG, Lee YC, Noh JK, Kwon KH., Free PMC Article

    03/30/2019
    We show that the gene body of an autosomal gene, CSMD1, is differentially methylated in a sex- and placental-specific manner, displaying sex-specific differences in placental transcript abundance

    Genome-wide oxidative bisulfite sequencing identifies sex-specific methylation differences in the human placenta.
    Gong S, Johnson MD, Dopierala J, Gaccioli F, Sovio U, Constância M, Smith GC, Charnock-Jones DS., Free PMC Article

    02/16/2019
    we studied n=3437 individuals and found evidence that a variant in CSMD1 is associated with cognitive function.

    A genetic association study of CSMD1 and CSMD2 with cognitive function.
    Athanasiu L, Giddaluru S, Fernandes C, Christoforou A, Reinvang I, Lundervold AJ, Nilsson LG, Kauppi K, Adolfsson R, Eriksson E, Sundet K, Djurovic S, Espeseth T, Nyberg L, Steen VM, Andreassen OA, Le Hellard S.

    08/11/2018
    Low expression of CSMD1 is associated with enhanced proliferation, migration and invasion.

    Loss of CSMD1 expression disrupts mammary duct formation while enhancing proliferation, migration and invasion.
    Kamal M, Holliday DL, Morrison EE, Speirs V, Toomes C, Bell SM.

    05/19/2018
    Study provide experimental evidence for the role of CSMD1 as a tumor suppressor in vitro and in vivo in the progression of breast cancer. Results revealed that expression of CSMD1 significantly reduced cell motility and migration, adhesion and invasion, as well as the tumorigenic and signaling potential of human breast cancer cells.

    Complement inhibitor CSMD1 acts as tumor suppressor in human breast cancer.
    Escudero-Esparza A, Bartoschek M, Gialeli C, Okroj M, Owen S, Jirström K, Orimo A, Jiang WG, Pietras K, Blom AM., Free PMC Article

    02/17/2018
    rs10503253 is likely a common schizophrenia risk variant in multiple ethnic groups

    Replicated association between the European GWAS locus rs10503253 at CSMD1 and schizophrenia in Asian population.
    Liu W, Liu F, Xu X, Bai Y.

    10/7/2017
    Data show that micrRNA miR-10b is overexpressed in hepatocellular carcinoma (HCC) tissues and miR-10b mimics promoted HCC cell viability and invasion via targeting CUB and Sushi multiple domains 1 (CSMD1) expression.

    miR-10b exerts oncogenic activity in human hepatocellular carcinoma cells by targeting expression of CUB and sushi multiple domains 1 (CSMD1).
    Zhu Q, Gong L, Wang J, Tu Q, Yao L, Zhang JR, Han XJ, Zhu SJ, Wang SM, Li YH, Zhang W., Free PMC Article

    09/23/2017
    findings do not support an association between CSMD1 rs10503253 and Schizophrenia in a Han Chinese population.

    No association between the rs10503253 polymorphism in the CSMD1 gene and schizophrenia in a Han Chinese population.
    Liu Y, Cheng Z, Wang J, Jin C, Yuan J, Wang G, Zhang F, Zhao X., Free PMC Article

    08/5/2017
    CSMD1 gene is a target for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.

    Common fragile sites (CFS) and extremely large CFS genes are targets for human papillomavirus integrations and chromosome rearrangements in oropharyngeal squamous cell carcinoma.
    Gao G, Johnson SH, Vasmatzis G, Pauley CE, Tombers NM, Kasperbauer JL, Smith DI.

    07/22/2017
    Allele-wise association analysis detected three SNPs, including rs2623659 in the CUB and Sushi multiple domains-1 (CSMD1) gene, associated with severity of illness at end point. The severity of illness at end point was associated with treatment response, but not with the severity of illness at baseline. Three SNPs, including rs2294424 in the C6orf105 gene, were associated with social outcomes.

    Individual risk alleles of susceptibility to schizophrenia are associated with poor clinical and social outcomes.
    Sakamoto S, Takaki M, Okahisa Y, Mizuki Y, Inagaki M, Ujike H, Mitsuhashi T, Takao S, Ikeda M, Uchitomi Y, Iwata N, Yamada N.

    04/1/2017
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