2018
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
2007
CTGF, intestinal stellate cells and carcinoid fibrogenesis.
Kidd M, Modlin I, Shapiro M, Camp R, Mane S, Usinger W, Murren J. CTGF, intestinal stellate cells and carcinoid fibrogenesis. World Journal Of Gastroenterology 2007, 13: 5208-16. PMID: 17876891, PMCID: PMC4171302, DOI: 10.3748/wjg.v13.i39.5208.Peer-Reviewed Original ResearchMeSH KeywordsAdultAgedCarcinoid TumorCase-Control StudiesCells, CulturedConnective Tissue Growth FactorExtracellular MatrixFemaleFibrosisGastrointestinal NeoplasmsHumansImmediate-Early ProteinsIntercellular Signaling Peptides and ProteinsIntestine, SmallMaleMiddle AgedRNA, MessengerTissue Array AnalysisTransforming Growth Factor beta1ConceptsCarcinoid tumor patientsStellate cellsCarcinoid tumorsTumor patientsTissue microarrayGI carcinoid tumorsDevelopment of agentsGI carcinoidsPlasma CTGFSerum CTGFSystemic complicationsFibrotic mediatorsGastric carcinoidsHistological fibrosisPeritoneal fibrosisNormal mucosaTumor fibrosisFibrotic responseFibrosisFibrotic tissueRT-PCR analysisCTGFTGFbeta1Q-RT-PCR analysisSandwich ELISA
1990
Quantitation of the ras gene product in leukemic blast cells using enzymatic staining.
Gutheil J, Mane S, Bass K, Lee E, Needleman S. Quantitation of the ras gene product in leukemic blast cells using enzymatic staining. BioTechniques 1990, 9: 212-7. PMID: 2205250.Peer-Reviewed Original ResearchConceptsRas gene productGene productsRas speciesRas protein levelsProtein of interestGene product levelsQuantitation of proteinsSpecific ras mutationsUse of electrophoresisProtein levelsRas mutationsProteinP21 expressionHuman malignanciesSpeciesCellsLeukemic cellsMutationsEnzymatic stainingHigh specificityRadioactive reagentsExpressionElectrophoresisAssaysVivo