Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment
Ashraf S, Kudo H, Rao J, Kikuchi A, Widmeier E, Lawson JA, Tan W, Hermle T, Warejko JK, Shril S, Airik M, Jobst-Schwan T, Lovric S, Braun DA, Gee HY, Schapiro D, Majmundar AJ, Sadowski CE, Pabst WL, Daga A, van der Ven AT, Schmidt JM, Low BC, Gupta AB, Tripathi BK, Wong J, Campbell K, Metcalfe K, Schanze D, Niihori T, Kaito H, Nozu K, Tsukaguchi H, Tanaka R, Hamahira K, Kobayashi Y, Takizawa T, Funayama R, Nakayama K, Aoki Y, Kumagai N, Iijima K, Fehrenbach H, Kari JA, El Desoky S, Jalalah S, Bogdanovic R, Stajić N, Zappel H, Rakhmetova A, Wassmer SR, Jungraithmayr T, Strehlau J, Kumar AS, Bagga A, Soliman NA, Mane SM, Kaufman L, Lowy DR, Jairajpuri MA, Lifton RP, Pei Y, Zenker M, Kure S, Hildebrandt F. Mutations in six nephrosis genes delineate a pathogenic pathway amenable to treatment. Nature Communications 2018, 9: 1960. PMID: 29773874, PMCID: PMC5958119, DOI: 10.1038/s41467-018-04193-w.Peer-Reviewed Original ResearchMeSH KeywordsAdultAnimalsChildChild, PreschoolDisease Models, AnimalDNA Mutational AnalysisDrug ResistanceExome SequencingFemaleGene Knockdown TechniquesGlucocorticoidsHEK293 CellsHigh-Throughput Nucleotide SequencingHumansInfantMaleMiceMice, Inbred C57BLMice, KnockoutMiddle AgedMutationNephrotic SyndromePedigreePodocytesProtein Interaction MapsrhoA GTP-Binding ProteinRNA, Small InterferingTreatment OutcomeConceptsKnockdown of DLC1Small GTPase activityExchange factorNephrotic syndromeRhoA regulationGTPase activityDifferent genesDLC1GenesNS phenotypePotential therapeutic targetChronic kidney diseaseMutationsCultured podocytesKnockdownTherapeutic targetMigration rateSteroid treatmentKidney diseaseKnockout micePathogenic pathwaysFrequent causeITSN1Cdc42ITSN2
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