2002
Polycystin-2 is an intracellular calcium release channel
Koulen P, Cai Y, Geng L, Maeda Y, Nishimura S, Witzgall R, Ehrlich BE, Somlo S. Polycystin-2 is an intracellular calcium release channel. Nature Cell Biology 2002, 4: 191-197. PMID: 11854751, DOI: 10.1038/ncb754.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCalcium ChannelsCalcium SignalingEndoplasmic ReticulumHumansIn Vitro TechniquesKidneyLLC-PK1 CellsMembrane PotentialsMembrane ProteinsMiceMice, Inbred C57BLMutationMutation, MissensePolycystic Kidney, Autosomal DominantRecombinant ProteinsSequence DeletionSignal TransductionSwineTRPP Cation ChannelsConceptsAutosomal dominant polycystic kidney diseaseIntracellular calcium release channelsPolycystic kidney diseaseCalcium release channelKidney diseaseTransient receptor potential channelsIntracellular calcium releaseDominant polycystic kidney diseaseRelease channelCalcium release signalsPolycystin-2 functionsType 2 autosomal dominant polycystic kidney diseaseCalcium releasePolycystin-2Single-channel studiesEpithelial cellsPotential channelsDiseaseMissense mutationsRelease signalsCarboxy-terminal truncationDisease-causing missense mutations
2000
Cardiac defects and renal failure in mice with targeted mutations in Pkd2
Wu G, Markowitz G, Li L, D'Agati V, Factor S, Geng L, Tibara S, Tuchman J, Cai Y, Hoon Park J, van Adelsberg J, Hou H, Kucherlapati R, Edelmann W, Somlo S. Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nature Genetics 2000, 24: 75-78. PMID: 10615132, DOI: 10.1038/71724.Peer-Reviewed Original ResearchConceptsPolycystin-2True null mutationEmbryonic day 13.5Liver cyst formationSomatic rearrangementsNull mutationNull allelesProtein productsUnstable alleleTargeted mutationsPKD2Cardiac septationCyst formationRenal failureDay 13.5MutationsADPKD phenotypeKidney cystsAllelesLong-term survivalFirst indicationDeleterious effectsCalcium channelsMouse modelClinical manifestations
1999
Polycystin-2 expression is developmentally regulated
Markowitz G, Cai Y, Li L, Wu G, Ward L, Somlo S, D’Agati V. Polycystin-2 expression is developmentally regulated. American Journal Of Physiology 1999, 277: f17-f25. PMID: 10409293, DOI: 10.1152/ajprenal.1999.277.1.f17.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCalcium ChannelsEmbryo, MammalianKidneyMembrane ProteinsMiceTRPP Cation ChannelsConceptsPKD2 expressionMultiple mesenchymal tissuesLow-level stainingPostnatal day 14Low-intensity stainingRed blood cell precursorsPolycystin-2 expressionMultiple endocrine organsBlood cell precursorsAdrenal cortexEndocrine organDistal tubulesSmooth muscleProximal tubulesDay 14Day E12.5Adult patternBasolateral stainingCell precursorsMesenchymal tissueAdult kidneyOrgan-specific functionsEmbryonic dayStrong expressionStaining
1998
Identification ofPKD2L,a HumanPKD2-Related Gene: Tissue-Specific Expression and Mapping to Chromosome 10q25
Wu G, Hayashi T, Park J, Dixit M, Reynolds D, Li L, Maeda Y, Cai Y, Coca-Prados M, Somlo S. Identification ofPKD2L,a HumanPKD2-Related Gene: Tissue-Specific Expression and Mapping to Chromosome 10q25. Genomics 1998, 54: 564-568. PMID: 9878261, DOI: 10.1006/geno.1998.5618.Peer-Reviewed Original ResearchAmino Acid SequenceBlotting, NorthernCalcium ChannelsChromosomes, Human, Pair 10Cloning, MolecularExpressed Sequence TagsGene Expression RegulationGenetic MarkersHumansLiverLiver DiseasesMembrane GlycoproteinsMembrane ProteinsMolecular Sequence DataOrgan SpecificityPhosphoproteinsPolycystic Kidney, Autosomal DominantPolymorphism, GeneticReceptors, Cell SurfaceRetinaSequence Homology, Amino AcidTissue DistributionTRPP Cation Channels
1996
PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein
Mochizuki T, Wu G, Hayashi T, Xenophontos S, Veldhuisen B, Saris J, Reynolds D, Cai Y, Gabow P, Pierides A, Kimberling W, Breuning M, Deltas C, Peters D, Somlo S. PKD2, a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein. Science 1996, 272: 1339-1342. PMID: 8650545, DOI: 10.1126/science.272.5266.1339.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceCaenorhabditis elegansCalcium ChannelsChromosome MappingChromosomes, Human, Pair 4Cloning, MolecularConsensus SequenceCrystallography, X-RayFemaleGlycosylationHumansMaleMembrane ProteinsMolecular Sequence DataMutationPedigreePhenotypePolycystic Kidney, Autosomal DominantPolymorphism, Single-Stranded ConformationalProteinsSodium ChannelsTRPP Cation ChannelsConceptsCaenorhabditis elegans homologIntegral membrane proteinsAmino acid similarityPKD2 gene productCalcium-binding domainPKD2 proteinTransmembrane spansPolycystic kidney diseasePositional cloningPotential calcium-binding domainsSecond geneMembrane proteinsGene productsAcid sequenceIntracellular aminoNonsense mutationGenesAutosomal dominant polycystic kidney diseasePKD1Dominant polycystic kidney diseasePKD2 familiesProteinVoltage-activated calcium channelsHomologCalcium channels