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
2013
Disorders of red cell volume regulation
Gallagher PG. Disorders of red cell volume regulation. Current Opinion In Hematology 2013, 20: 201-207. PMID: 23519154, DOI: 10.1097/moh.0b013e32835f6870.Peer-Reviewed Original ResearchConceptsVolume regulationCassette family memberErythrocyte volume homeostasisErythrocyte hydrationCell volume regulationMechanosensory proteinsGenetic basisSolute homeostasisMechanotransduction pathwaysGlucose transporterNew therapeutic targetsErythrocyte volume regulationNovel mechanismCellular waterCellular dehydrationRecent insightsCellular volumeHomeostasisRegulationAnion transportersTherapeutic targetTransportersPathwayVolume homeostasisRecent studies
2010
Determinants of erythrocyte hydration
Rinehart J, Gulcicek EE, Joiner CH, Lifton RP, Gallagher PG. Determinants of erythrocyte hydration. Current Opinion In Hematology 2010, 17: 191-197. PMID: 20182354, PMCID: PMC4155397, DOI: 10.1097/moh.0b013e32833800d0.Peer-Reviewed Original ResearchConceptsSickle cell diseaseErythrocyte hydrationCell diseaseNew therapeutic targetsGardos channel activationClinical complicationsPrimary disorderSecondary disordersTherapeutic targetErythrocyte dehydrationDisease preventionRelated disordersSolute homeostasisBiologic studiesDisordersChannel activationKCl cotransportDiseaseErythrocyte waterHomeostasisErythrocytesAnion transportersPremature destructionRecent studiesComplications