PhenomeGene — Human Disease Gene Website SeriesDGKE

Publications

Lemaire M et al. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome.Nat Genet. 2013;45(5):531-536. PMID: 23542698.

Ozaltin F et al. DGKE variants cause a glomerular microangiopathy that mimics membranoproliferative GN. J Am Soc Nephrol. 2013;24(3):377-384. PMID: 23274426.

Mele C et al. Characterization of a New DGKE Intronic Mutation in Genetically Unsolved Cases of Familial Atypical Hemolytic Uremic Syndrome. Clin J Am Soc Nephrol. 2015;10:1011-1019. PMID: 25854283.

Azukaitis K et al. The Phenotypic Spectrum of Nephropathies Associated with Mutations in Diacylglycerol Kinase e.J Am Soc Nephrol. 2017;28:3066-3075. PMID: 28526779.

Khandelwal P et al. Clinical features and outcomes of patients with diacylglycerol kinase epsilon nephropathy: a nationwide experience. Pediatr Nephrol. 2023. PMID: 36988693.

Brocklebank V et al. Long-term outcomes and response to treatment in diacylglycerol kinase epsilon nephropathy.Kidney Int. 2020. PMID: 32386968.

de Holanda MI et al. Diacylglycerol kinase epsilon nephropathy: late diagnosis and therapeutic implications. Clin Kidney J. 2019. PMID: 31583090.