2001
Flanking regulatory sequences of the locus encoding the murine GDNF receptor, c‐ret, directs lac Z (β‐galactosidase) expression in developing somatosensory system
Sukumaran M, Waxman S, Wood J, Pachnis V. Flanking regulatory sequences of the locus encoding the murine GDNF receptor, c‐ret, directs lac Z (β‐galactosidase) expression in developing somatosensory system. Developmental Dynamics 2001, 222: 389-402. PMID: 11747074, DOI: 10.1002/dvdy.1192.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAnimals, NewbornBase SequenceChromosome MappingCloning, MolecularConsensus SequenceDrosophila ProteinsEmbryo, MammalianGanglia, SensoryGene ExpressionGene Expression Regulation, DevelopmentalGenes, RegulatorGlial Cell Line-Derived Neurotrophic Factor ReceptorsLac OperonLectinsMiceMice, TransgenicNeurons, AfferentNociceptorsPromoter Regions, GeneticProtein Structure, TertiaryProto-Oncogene ProteinsProto-Oncogene Proteins c-retReceptor Protein-Tyrosine KinasesSpinal CordTranscription Initiation SiteConceptsRegulatory domainLac Z expressionZ expressionCell type-specific expressionDistal regulatory domainEndogenous gene expressionCis-regulatory domainsTranscription initiation siteEntire structural geneSpecific regulatory domainsLac Z reporter geneStructural geneMouse genomeLateral mesodermRegulatory sequencesCpG islandsDNA sequencesPrimitive streakReporter geneFlanking sequencesCosmid contigGene expressionSpecific expressionTransgenic mouse lineInitiation site
2000
A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation
Bendahhou S, Cummins T, Hahn A, Langlois S, Waxman S, Ptácek L. A double mutation in families with periodic paralysis defines new aspects of sodium channel slow inactivation. Journal Of Clinical Investigation 2000, 106: 431-438. PMID: 10930446, PMCID: PMC314328, DOI: 10.1172/jci9654.Peer-Reviewed Original ResearchConceptsChannel slow inactivationPeriodic paralysisSlow inactivationSodium channel slow inactivationMalignant hyperthermia susceptibilitySkeletal muscle disordersHuman skeletal muscleParalytic attacksMuscle disordersHyperkalemic periodic paralysisSkeletal muscleParalysisDisease-causing mutationsNovel mutationsHyperKPPChannel defectsMolecular determinantsAlpha subunitMutant channelsMutationsDouble mutationInactivationPatientsTransmembrane segments S5
1999
Coding Sequence, Genomic Organization, and Conserved Chromosomal Localization of the Mouse Gene Scn11a Encoding the Sodium Channel NaN
Dib-Hajj S, Tyrrell L, Escayg A, Wood P, Meisler M, Waxman S. Coding Sequence, Genomic Organization, and Conserved Chromosomal Localization of the Mouse Gene Scn11a Encoding the Sodium Channel NaN. Genomics 1999, 59: 309-318. PMID: 10444332, DOI: 10.1006/geno.1999.5890.Peer-Reviewed Original ResearchConceptsSodium channel geneChannel genesConserved linkage groupMouse chromosome 9Sodium channel alphaAlternative exon 5Amino acid levelsGenomic organizationChromosomal localizationLinkage groupsHuman genesHuman SCN5ACoding sequenceCommon lineageChannel alphaChromosome 9TTX-R sodium channelsGenesSmall-diameter sensory neuronsTransduction of painDorsal root gangliaHigh-threshold nociceptorsExon 5SCN11A geneSodium channels
1995
An orphan nuclear receptor, mROR α, and its spatial expression in adult mouse brain
Matsui T, Sashihara S, Oh Y, Waxman S. An orphan nuclear receptor, mROR α, and its spatial expression in adult mouse brain. Brain Research 1995, 33: 217-226. PMID: 8750880, DOI: 10.1016/0169-328x(95)00126-d.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBinding SitesBlotting, NorthernBrainCell DifferentiationCell LineGene ExpressionHumansIn Situ HybridizationMiceMolecular Sequence DataNeuronsNuclear Receptor Subfamily 1, Group F, Member 1Olfactory BulbOrgan SpecificityReceptors, Cytoplasmic and NuclearReceptors, Retinoic AcidSequence Homology, Amino AcidThalamusTrans-ActivatorsTransfectionTumor Cells, CulturedConceptsResponsive elementActivation of transcriptionThyroid hormone responsive elementRetinoic acid responsive elementNeural cell lineagesAcid-responsive elementLaminin B1 geneOrphan nuclear receptorHormone-responsive elementsRAR beta geneSitu hybridization analysisRetinoic acid receptor-related orphan receptorTranscription factorsAdult mouse brainCotransfection experimentsP19 cellsCell lineagesReceptor-related orphan receptorNorthern hybridizationAcid receptor-related orphan receptorHybridization analysisSpatial expressionOrphan receptorBeta geneNuclear receptors