2015
Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis
Glogowska E, Lezon-Geyda K, Maksimova Y, Schulz VP, Gallagher PG. Mutations in the Gardos channel (KCNN4) are associated with hereditary xerocytosis. Blood 2015, 126: 1281-1284. PMID: 26198474, PMCID: PMC4566808, DOI: 10.1182/blood-2015-07-657957.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAmino Acid SubstitutionAnemia, Hemolytic, CongenitalBase SequenceDNA Mutational AnalysisExomeFemaleGenes, DominantGenetic Association StudiesHeterozygoteHumansHydrops FetalisIntermediate-Conductance Calcium-Activated Potassium ChannelsIon ChannelsMaleMolecular Sequence DataMutation, MissensePedigreeSequence Homology, Amino AcidConceptsErythrocyte volume homeostasisAutosomal dominant hemolytic anemiaPotassium channel proteinHereditary xerocytosisHeterozygous mutationsChannel proteinsWhole-exome sequencingKCNN4 geneSame residuesSegregation analysisDisease phenotypeMutationsCellular dehydrationChannel mutationsGardos channelHX patientsDifferent mutationsCritical rolePiezo1XerocytosisWater lossVolume homeostasisChannel inactivationRecent studiesDeoxy conditions
2012
Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis
Zarychanski R, Schulz VP, Houston BL, Maksimova Y, Houston DS, Smith B, Rinehart J, Gallagher PG. Mutations in the mechanotransduction protein PIEZO1 are associated with hereditary xerocytosis. Blood 2012, 120: 1908-1915. PMID: 22529292, PMCID: PMC3448561, DOI: 10.1182/blood-2012-04-422253.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnemia, Hemolytic, CongenitalBase SequenceDNA Mutational AnalysisErythroid CellsExomeFamily HealthFemaleGene ExpressionGenetic Predisposition to DiseaseGenotypeHumansHydrops FetalisIon ChannelsMaleMass SpectrometryMechanotransduction, CellularMolecular Sequence DataMutationPedigreeProteomicsReverse Transcriptase Polymerase Chain ReactionConceptsPiezo proteinsErythrocyte volume homeostasisAutosomal dominant hemolytic anemiaHereditary xerocytosisPiezo familyMammalian cellsTransduction channelsCell mRNADiscovery proteomicsPIEZO1 mutationsGenetic diseasesSegregation analysisDisease phenotypeMutationsLinkage studiesHuman erythrocyte membranesProteinExome sequencingNumber analysisNovel mutationsPiezo1DNA levelsXerocytosisFirst reportVolume homeostasis