1993
Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis
Cummins T, Zhou J, Sigworth F, Ukomadu C, Stephan M, Ptáčk L, Agnew W. Functional consequences of a Na+ channel mutation causing hyperkalemic periodic paralysis. Neuron 1993, 10: 667-678. PMID: 8386527, DOI: 10.1016/0896-6273(93)90168-q.Peer-Reviewed Original ResearchConceptsHyperkalemic periodic paralysisFifth transmembrane segmentHuman embryonic kidney 293 cellsSingle base pair substitutionsEmbryonic kidney 293 cellsKidney 293 cellsBase pair substitutionsTransmembrane segmentsHuman mutationsChannel cDNARat channelHuman skeletal muscleFunctional consequencesPair substitutionsSecond domainCorresponding regionChannel mutationsGenetic defectsMutationsSkeletal musclePeriodic paralysisPatch-clamp recordingsCDNARat musclePedigree
1987
Genetic Reconstitution of Functional Acetylcholine Receptor Channels in Mouse Fibroblasts
Claudio T, Green W, Hartman D, Hayden D, Paulson H, Sigworth F, Sine S, Swedlund A. Genetic Reconstitution of Functional Acetylcholine Receptor Channels in Mouse Fibroblasts. Science 1987, 238: 1688-1694. PMID: 3686008, DOI: 10.1126/science.3686008.Peer-Reviewed Original ResearchConceptsExpression systemDNA-mediated gene transfer techniquesMouse fibroblast cellsDNA-mediated gene transferLigand-gated ion channelsCell surface AChRsNew expression systemFibroblast cellsTorpedo AChRClonal cell linesGene transfer techniquesForeign genesGene productsGenetic reconstitutionRecombinant DNACellular componentsTorpedo acetylcholine receptorComplementary DNASurface AChRsAcetylcholine receptor channelsFunctional consequencesGene transferIon channelsHomogenous cellsMouse fibroblasts