2011
A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation
Fedeles SV, Tian X, Gallagher AR, Mitobe M, Nishio S, Lee SH, Cai Y, Geng L, Crews CM, Somlo S. A genetic interaction network of five genes for human polycystic kidney and liver diseases defines polycystin-1 as the central determinant of cyst formation. Nature Genetics 2011, 43: 639-647. PMID: 21685914, PMCID: PMC3547075, DOI: 10.1038/ng.860.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsApoptosisBlotting, WesternCell ProliferationCystsFemaleGlucosidasesImmunoenzyme TechniquesImmunoprecipitationIntracellular Signaling Peptides and ProteinsLiver DiseasesMaleMiceMice, Inbred C57BLMice, TransgenicMutationPolycystic Kidney DiseasesReceptors, Cell SurfaceTRPP Cation Channels
2002
Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development
Chauvet V, Qian F, Boute N, Cai Y, Phakdeekitacharoen B, Onuchic LF, Attié-Bitach T, Guicharnaud L, Devuyst O, Germino GG, Gubler MC. Expression of PKD1 and PKD2 Transcripts and Proteins in Human Embryo and during Normal Kidney Development. American Journal Of Pathology 2002, 160: 973-983. PMID: 11891195, PMCID: PMC1867156, DOI: 10.1016/s0002-9440(10)64919-x.Peer-Reviewed Original ResearchConceptsPolycystin-1Kidney developmentPolycystin-2Expression patternsPKD1 expressionHuman genetic disordersLarge transmembrane proteinCell-matrix interactionsNormal kidney developmentMutations of PKD1Expression of PKD1Northern blot analysisGenes decreasesTransmembrane proteinHuman embryogenesisEndodermal derivativesSpatiotemporal expressionUreteric budPKD1 transcriptPKD2Transmembrane glycoproteinTranscriptsPKD1Nephron developmentProtein
1999
The rat Pkd2 protein assumes distinct subcellular distributions in different organs
Obermüller N, Gallagher A, Cai Y, Gassler N, Gretz N, Somlo S, Witzgall R. The rat Pkd2 protein assumes distinct subcellular distributions in different organs. American Journal Of Physiology 1999, 277: f914-f925. PMID: 10600939, DOI: 10.1152/ajprenal.1999.277.6.f914.Peer-Reviewed Original ResearchConceptsPKD2 proteinDifferent cellular compartmentsDistinct subcellular distributionCellular compartmentsBasolateral distributionExpression patternsCytoplasmic locationSubcellular distributionPKD2 geneWidespread expressionCellular distributionAdrenal glandProteinSmooth muscle cellsSalivary glandsMuscle cellsPKD2Autosomal dominant polycystic kidney diseasePolycystic kidney diseaseDifferent organsRenal distal tubulesMutationsIndividual organsDifferent rat organsPKD2 mutationsMutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells
Aguiari G, Manzati E, Penolazzi L, Micheletti F, Augello G, De Vitali E, Cappelli G, Cai Y, Reynolds D, Somlo S, Piva R, del Senno L. Mutations in autosomal dominant polycystic kidney disease 2 gene: Reduced expression of PKD2 protein in lymphoblastoid cells. American Journal Of Kidney Diseases 1999, 33: 880-885. PMID: 10213643, DOI: 10.1016/s0272-6386(99)70420-8.Peer-Reviewed Original ResearchConceptsPolycystic kidney disease 2 (PKD2) geneMembrane-spanning domainsIntegral membrane proteinsLymphoblastoid cellsFirst extracellular loopAutosomal dominant polycystic kidney diseasePKD2 proteinMembrane proteinsRestriction enzyme analysisCommon genetic diseaseLymphoblastoid cell linesProtein productsMutant allelesExtracellular loopWestern blot analysisPKD2 genePolymerase chain reactionGenetic diseasesNormal proteinAmino acidsMessenger RNA levelsNonsense mutationFrameshift mutationGenesProtein
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