2010
A new Nav1.7 sodium channel mutation I234T in a child with severe pain
Ahn H, Dib‐Hajj S, Cox JJ, Tyrrell L, Elmslie FV, Clarke AA, Drenth JP, Woods CG, Waxman SG. A new Nav1.7 sodium channel mutation I234T in a child with severe pain. European Journal Of Pain 2010, 14: 944-950. PMID: 20385509, DOI: 10.1016/j.ejpain.2010.03.007.Peer-Reviewed Original ResearchConceptsSevere painSevere pain symptomsYear old patientAvoidance of triggersWhole-cell voltage-clamp analysisPain episodesPain symptomsOlder patientsDrug treatmentVoltage-clamp analysisPainRamp depolarizationIEM patientsPatient's genomic DNAMild warmthPatientsSodium channelsFunction mutationsT mutationLimited reliefMonthsActivation shiftActivationRednessMutations
2006
Mutations in the sodium channel Nav1.7 underlie inherited erythromelalgia
Dib-Hajj S, Rush A, Cummins T, Waxman S. Mutations in the sodium channel Nav1.7 underlie inherited erythromelalgia. Drug Discovery Today Disease Mechanisms 2006, 3: 343-350. DOI: 10.1016/j.ddmec.2006.09.005.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsSympathetic ganglion neuronsDorsal root gangliaHigh-frequency firingSingle action potentialSodium channel Nav1.7Mild thermal stimuliSevere painDRG neuronsPainful conditionsGanglion neuronsRoot gangliaChannel Nav1.7Action potentialsModel diseaseThermal stimuliErythromelalgiaNeuronsMutant channelsFunctional studiesIEMPainGangliaNav1.7MutationsDisease
1995
Studies of Point Mutants Define Three Essential Paired Nucleotides in the Domain 5 Substructure of a Group II Intron
Boulanger S, Belcher S, Schmidt U, Dib-Hajj S, Schmidt T, Perlman P. Studies of Point Mutants Define Three Essential Paired Nucleotides in the Domain 5 Substructure of a Group II Intron. Molecular And Cellular Biology 1995, 15: 4479-4488. PMID: 7623838, PMCID: PMC230687, DOI: 10.1128/mcb.15.8.4479.Peer-Reviewed Original ResearchConceptsGroup II intronsU6 small nuclear RNADominant nuclear suppressorBase pairsSaccharomyces cerevisiae mitochondriaPoint mutationsSecond-site suppressorsSmall nuclear RNAYeast U2Nuclear suppressorCoxI geneCerevisiae mitochondriaRespiratory growthVivo splicingBiolistic transformationNuclear RNAHelix 1C base pairsSplicingIntronsDomain 5MutantsMutationsNucleotidesSuppressor