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    ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1 [ Homo sapiens (human) ]

    Gene ID: 5167, updated on 12-Sep-2024

    GeneRIFs: Gene References Into Functions

    GeneRIFPubMed TitleDate
    Tumor Exosomal ENPP1 Hydrolyzes cGAMP to Inhibit cGAS-STING Signaling.

    Tumor Exosomal ENPP1 Hydrolyzes cGAMP to Inhibit cGAS-STING Signaling.
    An Y, Zhu J, Xie Q, Feng J, Gong Y, Fan Q, Cao J, Huang Z, Shi W, Lin Q, Wu L, Yang C, Ji T., Free PMC Article

    08/23/2024
    Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.

    Quantitative correlation of ENPP1 pathogenic variants with disease phenotype.
    Ansh AJ, Stabach PR, Ciccone C, Cao W, De La Cruz EM, Sabbagh Y, Carpenter TO, Ferreira CR, Braddock DT.,

    07/18/2024
    TET3 boosts hepatocyte autophagy and impairs non-alcoholic fatty liver disease by increasing ENPP1 promoter hypomethylation.

    TET3 boosts hepatocyte autophagy and impairs non-alcoholic fatty liver disease by increasing ENPP1 promoter hypomethylation.
    Sun F, Yang Y, Jia L, Dong QQ, Hu W, Tao H, Lu C, Yang JJ.

    05/1/2024
    ENPP1 inhibits the transcription activity of the hepatitis B virus pregenomic promoter by upregulating the acetylation of LMNB1.

    ENPP1 inhibits the transcription activity of the hepatitis B virus pregenomic promoter by upregulating the acetylation of LMNB1.
    Ma X, Li Y, Zhu H, Lu K, Huang Y, Li X, Han S, Ding H, Sun S.

    02/29/2024
    Targeting ENPP1 for cancer immunotherapy: Killing two birds with one stone.

    Targeting ENPP1 for cancer immunotherapy: Killing two birds with one stone.
    Huang R, Ning Q, Zhao J, Zhao X, Zeng L, Yi Y, Tang S.

    02/1/2024
    Role of ENPP1 Gene Variants in the Susceptibility to Diabetic Nephropathy in Patients with type 2 Diabetes Mellitus.

    Role of ENPP1 Gene Variants in the Susceptibility to Diabetic Nephropathy in Patients with type 2 Diabetes Mellitus.
    Faraji N, Abbaspour S, Ajamian F, Keshavarz P.

    01/31/2024
    ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.

    ENPP1 in Blood and Bone: Skeletal and Soft Tissue Diseases Induced by ENPP1 Deficiency.
    Ferreira CR, Carpenter TO, Braddock DT., Free PMC Article

    01/30/2024
    ENPP1 is an innate immune checkpoint of the anticancer cGAMP-STING pathway in breast cancer.

    ENPP1 is an innate immune checkpoint of the anticancer cGAMP-STING pathway in breast cancer.
    Wang S, Böhnert V, Joseph AJ, Sudaryo V, Skariah G, Swinderman JT, Yu FB, Subramanyam V, Wolf DM, Lyu X, Gilbert LA, Van't Veer LJ, Goodarzi H, Li L., Free PMC Article

    01/3/2024
    Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults.

    Effects of food, fasting, and exercise on plasma pyrophosphate levels and ENPP1 activity in healthy adults.
    Khursigara G, Huertas P, Wenkert D, O'Brien K, Sabbagh Y.

    04/26/2023
    ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.

    ENPP1 deficiency: A clinical update on the relevance of individual variants using a locus-specific patient database.
    Mercurio SA, Chunn LM, Khursigara G, Nester C, Wray K, Botschen U, Kiel MJ, Rutsch F, Ferreira CR.

    12/24/2022
    Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.

    Mutation update: Variants of the ENPP1 gene in pathologic calcification, hypophosphatemic rickets, and cutaneous hypopigmentation with punctate keratoderma.
    Ralph D, Levine MA, Richard G, Morrow MM, Flynn EK, Uitto J, Li Q., Free PMC Article

    08/13/2022
    ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.

    ENPP1 variants in patients with GACI and PXE expand the clinical and genetic heterogeneity of heritable disorders of ectopic calcification.
    Ralph D, Nitschke Y, Levine MA, Caffet M, Wurst T, Saeidian AH, Youssefian L, Vahidnezhad H, Terry SF, Rutsch F, Uitto J, Li Q., Free PMC Article

    06/11/2022
    ENPP1's regulation of extracellular cGAMP is a ubiquitous mechanism of attenuating STING signaling.

    ENPP1's regulation of extracellular cGAMP is a ubiquitous mechanism of attenuating STING signaling.
    Carozza JA, Cordova AF, Brown JA, AlSaif Y, Böhnert V, Cao X, Mardjuki RE, Skariah G, Fernandez D, Li L., Free PMC Article

    05/28/2022
    Tumor ENPP1 (CD203a)/Haptoglobin Axis Exploits Myeloid-Derived Suppressor Cells to Promote Post-Radiotherapy Local Recurrence in Breast Cancer.

    Tumor ENPP1 (CD203a)/Haptoglobin Axis Exploits Myeloid-Derived Suppressor Cells to Promote Post-Radiotherapy Local Recurrence in Breast Cancer.
    Ruiz-Fernández de Córdoba B, Moreno H, Valencia K, Perurena N, Ruedas P, Walle T, Pezonaga-Torres A, Hinojosa J, Guruceaga E, Pineda-Lucena A, Abengózar-Muela M, Cochonneau D, Zandueta C, Martínez-Canarias S, Teijeira Á, Ajona D, Ortiz-Espinosa S, Morales X, Ortiz de Solórzano C, Santisteban M, Ramos-García LI, Guembe L, Strnad V, Heymann D, Hervás-Stubbs S, Pío R, Rodríguez-Ruiz ME, de Andrea CE, Vicent S, Melero I, Lecanda F, Martínez-Monge R., Free PMC Article

    05/14/2022
    Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.

    Ectopic Calcification and Hypophosphatemic Rickets: Natural History of ENPP1 and ABCC6 Deficiencies.
    Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F., Free PMC Article

    01/1/2022
    Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1.

    Activation of nuclear factor-kappa B by TNF promotes nucleus pulposus mineralization through inhibition of ANKH and ENPP1.
    Krzyzanowska AK, Frawley RJ, Damle S, Chen T, Otero M, Cunningham ME., Free PMC Article

    11/27/2021
    Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.

    Autosomal recessive hypophosphatemic rickets type 2 (ARHR2) due to ENPP1-deficiency.
    Höppner J, Kornak U, Sinningen K, Rutsch F, Oheim R, Grasemann C.

    10/30/2021
    Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.

    Response of the ENPP1-Deficient Skeletal Phenotype to Oral Phosphate Supplementation and/or Enzyme Replacement Therapy: Comparative Studies in Humans and Mice.
    Ferreira CR, Kavanagh D, Oheim R, Zimmerman K, Stürznickel J, Li X, Stabach P, Rettig RL, Calderone L, MacKichan C, Wang A, Hutchinson HA, Nelson T, Tommasini SM, von Kroge S, Fiedler IA, Lester ER, Moeckel GW, Busse B, Schinke T, Carpenter TO, Levine MA, Horowitz MC, Braddock DT., Free PMC Article

    09/18/2021
    Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.

    Human Heterozygous ENPP1 Deficiency Is Associated With Early Onset Osteoporosis, a Phenotype Recapitulated in a Mouse Model of Enpp1 Deficiency.
    Oheim R, Zimmerman K, Maulding ND, Stürznickel J, von Kroge S, Kavanagh D, Stabach PR, Kornak U, Tommasini SM, Horowitz MC, Amling M, Thompson D, Schinke T, Busse B, Carpenter TO, Braddock DT., Free PMC Article

    09/18/2021
    High expression of ENPP1 in high-grade serous ovarian carcinoma predicts poor prognosis and as a molecular therapy target.

    High expression of ENPP1 in high-grade serous ovarian carcinoma predicts poor prognosis and as a molecular therapy target.
    Wang H, Ye F, Zhou C, Cheng Q, Chen H., Free PMC Article

    07/31/2021
    Crystal structures of human ENPP1 in apo and bound forms.

    Crystal structures of human ENPP1 in apo and bound forms.
    Dennis ML, Newman J, Dolezal O, Hattarki M, Surjadi RN, Nuttall SD, Pham T, Nebl T, Camerino M, Khoo PS, Monahan BJ, Peat TS., Free PMC Article

    07/10/2021
    A Polymorphism in the Gene Encoding the Insulin Receptor Binding Protein ENPP-1 Is Associated with Decreased Glomerular Filtration Rate in an Under-Investigated Indigenous African Population.

    A Polymorphism in the Gene Encoding the Insulin Receptor Binding Protein ENPP-1 Is Associated with Decreased Glomerular Filtration Rate in an Under-Investigated Indigenous African Population.
    Cave EM, Prigge KL, Crowther NJ, George JA, Padoa CJ.

    06/5/2021
    Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients.

    Single locus and haplotype association of ENPP1 gene variants with the development of retinopathy among type 2 diabetic patients.
    Gohari-Lasaki S, Sharafshah A, Abbaspour S, Keshavarz P.

    01/30/2021
    MC4R and ENPP1 gene polymorphisms and their implication in maternal and neonatal risk for obesity.

    MC4R and ENPP1 gene polymorphisms and their implication in maternal and neonatal risk for obesity.
    Mărginean C, Mărginean CO, Iancu M, Meliț LE, Tripon F, Bănescu C., Free PMC Article

    11/21/2020
    Condyle modeling stability, craniofacial asymmetry and ACTN3 genotypes: Contribution to TMD prevalence in a cohort of dentofacial deformities.

    Condyle modeling stability, craniofacial asymmetry and ACTN3 genotypes: Contribution to TMD prevalence in a cohort of dentofacial deformities.
    Nicot R, Chung K, Vieira AR, Raoul G, Ferri J, Sciote JJ., Free PMC Article

    09/26/2020
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