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
MKL1 and MKL2 play redundant and crucial roles in megakaryocyte maturation and platelet formation
Smith EC, Thon JN, Devine MT, Lin S, Schulz VP, Guo Y, Massaro SA, Halene S, Gallagher P, Italiano JE, Krause DS. MKL1 and MKL2 play redundant and crucial roles in megakaryocyte maturation and platelet formation. Blood 2012, 120: 2317-2329. PMID: 22806889, PMCID: PMC3447785, DOI: 10.1182/blood-2012-04-420828.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine DiphosphateAnimalsBleeding TimeBlood PlateletsBone Marrow CellsCells, CulturedCrosses, GeneticCytoplasmCytoskeletonGene Expression ProfilingHematopoiesisMegakaryocytesMiceMice, Inbred C57BLMice, KnockoutOligonucleotide Array Sequence AnalysisPlatelet ActivationThrombocytopeniaTrans-ActivatorsTranscription FactorsConceptsMegakaryocyte maturationPlatelet formationSerum response factorSerum response factor expressionMembrane organizationGene expressionMKL1MKL2Response factorDKO miceKO backgroundMegakaryocyte compartmentMegakaryocytesCritical roleMegakaryocyte ploidyExpressionMaturationKnockout miceFactor expressionCrucial roleHomologuesGenesMiceProlonged bleeding timeRole