2022
Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis
Cornière N, Thomson RB, Thauvin S, Villoutreix BO, Karp S, Dynia DW, Burlein S, Brinkmann L, Badreddine A, Dechaume A, Derhourhi M, Durand E, Vaillant E, Froguel P, Chambrey R, Aronson PS, Bonnefond A, Eladari D. Dominant negative mutation in oxalate transporter SLC26A6 associated with enteric hyperoxaluria and nephrolithiasis. Journal Of Medical Genetics 2022, 59: 1035-1043. PMID: 35115415, PMCID: PMC9346097, DOI: 10.1136/jmedgenet-2021-108256.Peer-Reviewed Original ResearchConceptsRare heterozygous missense mutationsWild-type proteinStrong dominant-negative effectDominant negative effectDominant negative mutationMembrane surface expressionOxalate transporter SLC26A6Calcium oxalate nephrolithiasisCotransfection studiesOxalate transporterSilico analysisNegative mutationTransport activityMissense mutationsHeterozygous missense mutationEnteric hyperoxaluriaComplex multifactorial diseaseMutationsOxalate nephrolithiasisHuman populationSurface expressionCell culturesUrinary oxalate excretionMajor risk factorGenetic factors
1997
Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice
Cox G, Lutz C, Yang C, Biemesderfer D, Bronson R, Fu A, Aronson P, Noebels J, Frankel W. Sodium/Hydrogen Exchanger Gene Defect in Slow-Wave Epilepsy Mutant Mice. Cell 1997, 91: 139-148. PMID: 9335342, DOI: 10.1016/s0092-8674(01)80016-7.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAtaxiaBrain ChemistryCell LineCerebellumCerebral CortexChromosome MappingCrosses, GeneticElectroencephalographyEpilepsyFibroblastsGenes, RecessiveIon TransportMiceMice, Inbred C57BLMice, Neurologic MutantsOrgan SpecificityPhenotypePoint MutationRNASodiumSodium-Hydrogen ExchangersConceptsSodium/hydrogen exchangerSpontaneous mouse mutantDisease-causing mutationsPlasma membraneChromosome 4Null allelesMouse mutantsCell survivalHydrogen exchangerNHE genesMutantsGene defectsMutant miceNHE1Growth factorTonic-clonic seizuresSelective neuronal deathNeuronal deathDelicate balanceNeurological syndromeEpilepsy phenotypeGenesNew toolCell volumeMutations