2004
Deficiency of polycystin‐2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells
Aguiari G, Banzi M, Gessi S, Cai Y, Zeggio E, Manzati E, Piva R, Lambertini E, Ferrari L, Peters DJ, Lanza F, Harris PC, Borea PA, Somlo S, del Senno L. Deficiency of polycystin‐2 reduces Ca2+ channel activity and cell proliferation in ADPKD lymphoblastoid cells. The FASEB Journal 2004, 18: 884-886. PMID: 15001556, DOI: 10.1096/fj.03-0687fje.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SubstitutionB-LymphocytesCalciumCalcium SignalingCell DivisionCell Line, TransformedCodon, NonsenseEndoplasmic ReticulumGentamicinsHumansIon TransportKidneyMembrane ProteinsMutation, MissenseOrgan SpecificityPlatelet Activating FactorPoint MutationPolycystic Kidney, Autosomal DominantProteinsRNA, MessengerSuppression, GeneticTRPP Cation ChannelsConceptsPlatelet-activating factorAutosomal dominant polycystic kidney disease patientsPolycystic kidney disease patientsKidney disease patientsCell proliferationPolycystin-2B lymphoblastoid cellsDisease patientsADPKD patientsB-LCLIntracellular Ca2PKD2 mutationsPC2 levelsKidney epitheliumPatientsChannel activityLymphoblastoid cellsAminoglycoside antibioticsKidney cellsImportant regulatorHEK293 cellsPKD2 geneFunction activityCa2PKD genes
2003
Polycystin-1 Distribution Is Modulated by Polycystin-2 Expression in Mammalian Cells*
Grimm DH, Cai Y, Chauvet V, Rajendran V, Zeltner R, Geng L, Avner ED, Sweeney W, Somlo S, Caplan MJ. Polycystin-1 Distribution Is Modulated by Polycystin-2 Expression in Mammalian Cells*. Journal Of Biological Chemistry 2003, 278: 36786-36793. PMID: 12840011, DOI: 10.1074/jbc.m306536200.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBlotting, WesternCell LineCell MembraneCells, CulturedCOS CellsDNA, ComplementaryEndoplasmic ReticulumGene Expression RegulationMembrane ProteinsMiceMice, TransgenicMicroscopy, FluorescenceModels, BiologicalMutationPrecipitin TestsProtein BindingProtein BiosynthesisProteinsRecombinant Fusion ProteinsRNA, MessengerTransfectionTRPP Cation ChannelsConceptsPolycystin-1Polycystin-2Mammalian cellsLevel of expressionPolycystin-2 expressionEndoplasmic reticulumCell surfaceCOS-7 cellsNull cell lineRelative expression levelsSubcellular localizationFusion proteinGradient of expressionExpression levelsProteinCell linesPolycystinsAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseDivergent patternsExpressionPolycystic kidney diseaseReticulumCellsLocalization
1998
Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease
Wu G, D'Agati V, Cai Y, Markowitz G, Park J, Reynolds D, Maeda Y, Le T, Hou H, Kucherlapati R, Edelmann W, Somlo S. Somatic Inactivation of Pkd2 Results in Polycystic Kidney Disease. Cell 1998, 93: 177-188. PMID: 9568711, DOI: 10.1016/s0092-8674(00)81570-6.Peer-Reviewed Original ResearchConceptsCellular recessive mechanismIntragenic homologous recombinationExon 1True null alleleMutant exon 1Somatic inactivationPkd2 resultsRenal cyst formationPKD2 proteinPolycystic kidney diseaseHomologous recombinationNull allelesHuman phenotypesPKD2 expressionUnstable alleleSomatic lossPKD2Autosomal dominant polycystic kidney diseaseDominant polycystic kidney diseaseMutationsGermline mutationsRecessive mechanismAllelesInactivationCyst formation
1997
Molecular Cloning, cDNA Sequence Analysis, and Chromosomal Localization of MousePkd2
Wu G, Mochizuki T, Le T, Cai Y, Hayashi T, Reynolds D, Somlo S. Molecular Cloning, cDNA Sequence Analysis, and Chromosomal Localization of MousePkd2. Genomics 1997, 45: 220-223. PMID: 9339380, DOI: 10.1006/geno.1997.4920.Peer-Reviewed Original ResearchConceptsCDNA sequenceIntegral membrane proteinsMembrane-spanning domainsCDNA sequence analysisAmino acid levelsGenomic localizationPKD2 mRNAChromosomal localizationMembrane proteinsMolecular cloningMouse mutationMurine homologueExpression analysisCandidate genesChromosome 5Sequence analysisMouse tissuesKidney phenotypePKD2CloningPolycystic kidney phenotypeGenesAutosomal dominant polycystic kidney diseaseDominant polycystic kidney diseasePolycystic kidney disease