2018
GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome
Hermle T, Schneider R, Schapiro D, Braun DA, van der Ven AT, Warejko JK, Daga A, Widmeier E, Nakayama M, Jobst-Schwan T, Majmundar AJ, Ashraf S, Rao J, Finn LS, Tasic V, Hernandez JD, Bagga A, Jalalah SM, El Desoky S, Kari JA, Laricchia KM, Lek M, Rehm HL, MacArthur DG, Mane S, Lifton RP, Shril S, Hildebrandt F. GAPVD1 and ANKFY1 Mutations Implicate RAB5 Regulation in Nephrotic Syndrome. Journal Of The American Society Of Nephrology 2018, 29: 2123-2138. PMID: 29959197, PMCID: PMC6065084, DOI: 10.1681/asn.2017121312.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell MovementCells, CulturedCohort StudiesDisease ProgressionDrosophila melanogasterExome SequencingFemaleGene Expression RegulationGenetic Predisposition to DiseaseHumansMaleMass ScreeningMembrane ProteinsMutation, MissenseNephrotic SyndromePedigreePhosphate-Binding ProteinsPodocytesRab5 GTP-Binding ProteinsReal-Time Polymerase Chain ReactionRenal Insufficiency, ChronicRNA, Small InterferingConceptsSteroid-resistant nephrotic syndromeNovel monogenic causesCoimmunoprecipitation assaysHomozygous missense mutationPatient-derived mutationsMissense mutationsMonogenic causesHEK293T cellsActive Rab5GAPVD1Nephrotic syndromePodocyte migration rateEctopic expressionCases of SRNSPartial colocalizationSpecific pathogenetic pathwaysWhole-exome sequencingEarly-onset NSHuman NFunctional significancePodocyte migrationProteinMutationsPhysical interactionRab5
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
2002
Microarray results: how accurate are they?
Kothapalli R, Yoder S, Mane S, Loughran T. Microarray results: how accurate are they? BMC Bioinformatics 2002, 3: 22. PMID: 12194703, PMCID: PMC126254, DOI: 10.1186/1471-2105-3-22.Peer-Reviewed Original ResearchAllelesCells, CulturedComputational BiologyDNA, ComplementaryGene Expression ProfilingGene Expression Regulation, EnzymologicGene Expression Regulation, NeoplasticGenes, NeoplasmGranzymesHumansLeukemia, LymphoidLeukocytes, MononuclearOligonucleotide Array Sequence AnalysisReproducibility of ResultsRNA, MessengerRNA, NeoplasmSensitivity and SpecificitySerine Endopeptidases