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
2014
Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation
Romberg N, Al Moussawi K, Nelson-Williams C, Stiegler AL, Loring E, Choi M, Overton J, Meffre E, Khokha MK, Huttner AJ, West B, Podoltsev NA, Boggon TJ, Kazmierczak BI, Lifton RP. Mutation of NLRC4 causes a syndrome of enterocolitis and autoinflammation. Nature Genetics 2014, 46: 1135-1139. PMID: 25217960, PMCID: PMC4177367, DOI: 10.1038/ng.3066.Peer-Reviewed Original Research