2018
Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome
Braun DA, Warejko JK, Ashraf S, Tan W, Daga A, Schneider R, Hermle T, Jobst-Schwan T, Widmeier E, Majmundar AJ, Nakayama M, Schapiro D, Rao J, Schmidt JM, Hoogstraten CA, Hugo H, Bakkaloglu SA, Kari JA, Desoky S, Daouk G, Mane S, Lifton RP, Shril S, Hildebrandt F. Genetic variants in the LAMA5 gene in pediatric nephrotic syndrome. Nephrology Dialysis Transplantation 2018, 34: 485-493. PMID: 29534211, PMCID: PMC6399483, DOI: 10.1093/ndt/gfy028.Peer-Reviewed Original ResearchConceptsSteroid-resistant NSNephrotic syndromeDevelopment of NSMonogenic causesChronic kidney diseaseChildhood-onset casesPediatric nephrotic syndromeWhole-exome sequencingGenetic variantsGlomerular basement membranePediatric NSSRNS genesImmunosuppressive therapyPediatric patientsClinical outcomesKidney diseaseMouse modelFamilial occurrenceUnknown significanceEarly onsetHomozygous variantExome sequencingDiseaseNS phenotypeDisease management
2013
De novo mutations in histone-modifying genes in congenital heart disease
Zaidi S, Choi M, Wakimoto H, Ma L, Jiang J, Overton JD, Romano-Adesman A, Bjornson RD, Breitbart RE, Brown KK, Carriero NJ, Cheung YH, Deanfield J, DePalma S, Fakhro KA, Glessner J, Hakonarson H, Italia MJ, Kaltman JR, Kaski J, Kim R, Kline JK, Lee T, Leipzig J, Lopez A, Mane SM, Mitchell LE, Newburger JW, Parfenov M, Pe’er I, Porter G, Roberts AE, Sachidanandam R, Sanders SJ, Seiden HS, State MW, Subramanian S, Tikhonova IR, Wang W, Warburton D, White PS, Williams IA, Zhao H, Seidman JG, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Seidman CE, Lifton RP. De novo mutations in histone-modifying genes in congenital heart disease. Nature 2013, 498: 220-223. PMID: 23665959, PMCID: PMC3706629, DOI: 10.1038/nature12141.Peer-Reviewed Original ResearchRecessive 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