2002
WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis
Guo JK, Menke AL, Gubler MC, Clarke AR, Harrison D, Hammes A, Hastie ND, Schedl A. WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. Human Molecular Genetics 2002, 11: 651-659. PMID: 11912180, DOI: 10.1093/hmg/11.6.651.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsDown-RegulationGlomerular MesangiumGlomerulonephritisGlomerulosclerosis, Focal SegmentalHumansKidney DiseasesKidney GlomerulusMembrane ProteinsMiceMice, KnockoutProteinsSclerosisSialoglycoproteinsWT1 ProteinsConceptsTumor 1 geneExpression levelsWilms' tumor 1 geneMesangial sclerosisYeast artificial chromosome transgenic mouse modelWT1 resultsDistinct renal diseasesGenetic evidenceDenys-Drash patientsGene dosageCrescentic glomerulonephritisKey regulatorMolecular explanationDominant mutationsEnd-stage renal failureCell typesPodocyte functionGenes NPHS1WAGR syndromeLevel of WT1Transgenic mouse modelWT1GenesGlomerular basement membraneRenal failure
2001
Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation
Hammes A, Guo J, Lutsch G, Leheste J, Landrock D, Ziegler U, Gubler M, Schedl A. Two Splice Variants of the Wilms' Tumor 1 Gene Have Distinct Functions during Sex Determination and Nephron Formation. Cell 2001, 106: 319-329. PMID: 11509181, DOI: 10.1016/s0092-8674(01)00453-6.Peer-Reviewed Original ResearchMeSH KeywordsActive Transport, Cell NucleusAlternative SplicingAnimalsAnimals, NewbornApoptosisBase SequenceCell SurvivalDAX-1 Orphan Nuclear ReceptorDisorders of Sex DevelopmentDNA-Binding ProteinsExonsFemaleGenes, Wilms TumorGlomerulosclerosis, Focal SegmentalGonadsMaleMiceMutagenesisNephronsNuclear ProteinsProtein IsoformsReceptors, Retinoic AcidRepressor ProteinsRNA Splice SitesRNA, MessengerSex Determination ProcessesSex-Determining Region Y ProteinSyndromeTranscription FactorsWT1 ProteinsConceptsTumor 1 geneDistinct functionsKTS isoformsSex determination pathwaySplice variantsDistinct molecular functionsZinc finger 3XY sex reversalWilms' tumor 1 geneMolecular functionsWT1 resultsAlternative splicingSex determinationSex reversalFinger 3Nephron formationHomozygous mutantsSpecific isoformsImportant regulatorExpression levelsIsoformsKidney defectsFrasier syndromeHeterozygous miceMouse strains