2013
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. Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome. Nature Genetics 2013, 45: 531-536. PMID: 23542698, PMCID: PMC3719402, DOI: 10.1038/ng.2590.Peer-Reviewed Original ResearchMeSH KeywordsAcute Kidney InjuryAtypical Hemolytic Uremic SyndromeChildChild, PreschoolDiacylglycerol KinaseExomeFemaleGenes, RecessiveHemolytic-Uremic SyndromeHumansImmunoenzyme TechniquesInfantMaleMolecular Sequence DataMutationRenal Insufficiency, ChronicThrombocytopeniaThrombotic Microangiopathies
2009
Placental Insufficiency Associated with Loss of Cited1 Causes Renal Medullary Dysplasia
Sparrow DB, Boyle SC, Sams RS, Mazuruk B, Zhang L, Moeckel GW, Dunwoodie SL, de Caestecker MP. Placental Insufficiency Associated with Loss of Cited1 Causes Renal Medullary Dysplasia. Journal Of The American Society Of Nephrology 2009, 20: 777-786. PMID: 19297558, PMCID: PMC2663829, DOI: 10.1681/asn.2008050547.Peer-Reviewed Original ResearchConceptsRenal medullary dysplasiaPlacental insufficiencyTissue oxygenationLower urinary tract obstructionUrinary tract obstructionCITED1 expressionIntrauterine growth retardationTract obstructionRenal functionMedullary growthRenal dysplasiaDysplasiaGrowth retardationRenal medullaMutant miceDecreased numberInsufficiencyEarly nephrogenesisNumber of studiesMiceGenetic lossOxygenationUreteric budCircumstantial evidenceInfants