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Journal Abstract Search

334 related items for PubMed ID: 25854283

  • 1. Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome.
    Mele C, Lemaire M, Iatropoulos P, Piras R, Bresin E, Bettoni S, Bick D, Helbling D, Veith R, Valoti E, Donadelli R, Murer L, Neunhäuserer M, Breno M, Frémeaux-Bacchi V, Lifton R, Remuzzi G, Noris M.
    Clin J Am Soc Nephrol; 2015 Jun 05; 10(6):1011-9. PubMed ID: 25854283
    [Abstract] [Full Text] [Related]

  • 2. Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome.
    Gholizad-Kolveiri S, Hooman N, Alizadeh R, Hoseini R, Otukesh H, Talebi S, Akouchekian M.
    BMC Med Genet; 2020 Aug 24; 21(1):169. PubMed ID: 32838746
    [Abstract] [Full Text] [Related]

  • 3. A patient with a homozygous diacylglycerol kinase epsilon (DGKE) gene mutation with atypical haemolytic uraemic syndrome and low C3 responded well to eculizumab: a case report.
    Alabdulqader M, Alfakeeh K.
    BMC Nephrol; 2021 Apr 20; 22(1):140. PubMed ID: 33879077
    [Abstract] [Full Text] [Related]

  • 4. A novel compound heterozygous mutation in DGKE in a Chinese patient causes atypical hemolytic uremic syndrome.
    Li J, Song Y, Zhang Y, Li H, Tian M, Li D, Zhang S, Cao G, Liu C.
    Hematology; 2020 Dec 20; 25(1):101-107. PubMed ID: 32091318
    [Abstract] [Full Text] [Related]

  • 5.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Noris M, Bresin E, Mele C, Remuzzi G.
    ; 1993 Dec 20. PubMed ID: 20301541
    [Abstract] [Full Text] [Related]

  • 6. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.
    Lemaire M, Frémeaux-Bacchi V, Schaefer F, Choi M, Tang WH, Le Quintrec M, Fakhouri F, Taque S, Nobili F, Martinez F, Ji W, Overton JD, Mane SM, Nürnberg G, Altmüller J, Thiele H, Morin D, Deschenes G, Baudouin V, Llanas B, Collard L, Majid MA, Simkova E, Nürnberg P, Rioux-Leclerc N, Moeckel GW, Gubler MC, Hwa J, Loirat C, Lifton RP.
    Nat Genet; 2013 May 20; 45(5):531-6. PubMed ID: 23542698
    [Abstract] [Full Text] [Related]

  • 7. Podocyte dysfunction in atypical haemolytic uraemic syndrome.
    Noris M, Mele C, Remuzzi G.
    Nat Rev Nephrol; 2015 Apr 20; 11(4):245-52. PubMed ID: 25599621
    [Abstract] [Full Text] [Related]

  • 8. Genetics: Hidden intronic mutations in DGKE are causative of aHUS.
    Edwards JK.
    Nat Rev Nephrol; 2015 Jun 20; 11(6):316. PubMed ID: 25917558
    [No Abstract] [Full Text] [Related]

  • 9. Genetics of atypical hemolytic uremic syndrome (aHUS).
    Rodríguez de Córdoba S, Hidalgo MS, Pinto S, Tortajada A.
    Semin Thromb Hemost; 2014 Jun 20; 40(4):422-30. PubMed ID: 24799305
    [Abstract] [Full Text] [Related]

  • 10. Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy.
    Brocklebank V, Kumar G, Howie AJ, Chandar J, Milford DV, Craze J, Evans J, Finlay E, Freundlich M, Gale DP, Inward C, Mraz M, Jones C, Wong W, Marks SD, Connolly J, Corner BM, Smith-Jackson K, Walsh PR, Marchbank KJ, Harris CL, Wilson V, Wong EKS, Malina M, Johnson S, Sheerin NS, Kavanagh D.
    Kidney Int; 2020 Jun 20; 97(6):1260-1274. PubMed ID: 32386968
    [Abstract] [Full Text] [Related]

  • 11. Phenotypic expansion of DGKE-associated diseases.
    Westland R, Bodria M, Carrea A, Lata S, Scolari F, Fremeaux-Bacchi V, D'Agati VD, Lifton RP, Gharavi AG, Ghiggeri GM, Sanna-Cherchi S.
    J Am Soc Nephrol; 2014 Jul 20; 25(7):1408-14. PubMed ID: 24511134
    [Abstract] [Full Text] [Related]

  • 12. A Novel Homozygous In-Frame Deletion in Complement Factor 3 Underlies Early-Onset Autosomal Recessive Atypical Hemolytic Uremic Syndrome - Case Report.
    Pollack S, Eisenstein I, Mory A, Paperna T, Ofir A, Baris-Feldman H, Weiss K, Veszeli N, Csuka D, Shemer R, Glaser F, Prohászka Z, Magen D.
    Front Immunol; 2021 Jul 20; 12():608604. PubMed ID: 34248927
    [Abstract] [Full Text] [Related]

  • 13. Complement mutations in diacylglycerol kinase-ε-associated atypical hemolytic uremic syndrome.
    Sánchez Chinchilla D, Pinto S, Hoppe B, Adragna M, Lopez L, Justa Roldan ML, Peña A, Lopez Trascasa M, Sánchez-Corral P, Rodríguez de Córdoba S.
    Clin J Am Soc Nephrol; 2014 Sep 05; 9(9):1611-9. PubMed ID: 25135762
    [Abstract] [Full Text] [Related]

  • 14. Atypical hemolytic uremic syndrome due to DGKE mutation and response to eculizumab: lessons for the clinical nephrologist.
    Husain D, Barron B, Barron AG, Sandokji I, Marsenic O, Warejko JK.
    J Nephrol; 2021 Aug 05; 34(4):1331-1335. PubMed ID: 33751496
    [No Abstract] [Full Text] [Related]

  • 15. Genotypic analysis of a large cohort of patients with suspected atypical hemolytic uremic syndrome.
    Connaughton DM, Bhai P, Isenring P, Mahdi M, Sadikovic B, Schenkel LC.
    J Mol Med (Berl); 2023 Aug 05; 101(8):1029-1040. PubMed ID: 37466676
    [Abstract] [Full Text] [Related]

  • 16. Various phenotypes of disease associated with mutated DGKE gene.
    Bezdíčka M, Pavlíček P, Bláhová K, Háček J, Zieg J.
    Eur J Med Genet; 2020 Aug 05; 63(8):103953. PubMed ID: 32413569
    [Abstract] [Full Text] [Related]

  • 17. Pediatric Atypical Hemolytic Uremic Syndrome Advances.
    Raina R, Vijayvargiya N, Khooblall A, Melachuri M, Deshpande S, Sharma D, Mathur K, Arora M, Sethi SK, Sandhu S.
    Cells; 2021 Dec 18; 10(12):. PubMed ID: 34944087
    [Abstract] [Full Text] [Related]

  • 18. Atypical haemolytic uraemic syndrome in a Japanese patient with DGKE genetic mutations.
    Miyata T, Uchida Y, Ohta T, Urayama K, Yoshida Y, Fujimura Y.
    Thromb Haemost; 2015 Oct 18; 114(4):862-3. PubMed ID: 26018111
    [No Abstract] [Full Text] [Related]

  • 19. Whole-exome sequencing detects mutations in pediatric patients with atypical hemolytic uremic syndrome in Taiwan.
    Tseng MH, Tsai JD, Tsai IJ, Huang SM, Huang JL, Fan WL, Lee HJ, Wu TW, Lin SH.
    Clin Chim Acta; 2019 Jul 18; 494():143-150. PubMed ID: 30905589
    [Abstract] [Full Text] [Related]

  • 20. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase ε.
    Azukaitis K, Simkova E, Majid MA, Galiano M, Benz K, Amann K, Bockmeyer C, Gajjar R, Meyers KE, Cheong HI, Lange-Sperandio B, Jungraithmayr T, Frémeaux-Bacchi V, Bergmann C, Bereczki C, Miklaszewska M, Csuka D, Prohászka Z, Killen P, Gipson P, Sampson MG, Lemaire M, Schaefer F.
    J Am Soc Nephrol; 2017 Oct 18; 28(10):3066-3075. PubMed ID: 28526779
    [Abstract] [Full Text] [Related]

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