2005
Molecular mechanisms in the inherited red cell membrane disorders
Liem R, Gallagher P. Molecular mechanisms in the inherited red cell membrane disorders. Drug Discovery Today Disease Mechanisms 2005, 2: 539-545. DOI: 10.1016/j.ddmec.2005.11.004.Peer-Reviewed Original ResearchRed cell membrane disordersSingle molecular defectEpigenetic controlMRNA processingProtein functionGene expressionMolecular mechanismsMolecular defectsErythrocyte membrane structureRed cell membrane abnormalitiesMembrane structureMolecular medicineMutationsMembrane disordersDiverse groupCurrent knowledgeGenesRegion mutationsMolecular heterogeneityPromoter mutationsCell membrane abnormalitiesErythrocyte membranesInherited disorderMembrane abnormalitiesProtein
2004
Update on the clinical spectrum and genetics of red blood cell membrane disorders.
Gallagher PG. Update on the clinical spectrum and genetics of red blood cell membrane disorders. Current Hematology Reports 2004, 3: 85-91. PMID: 14965483.Peer-Reviewed Original ResearchConceptsStructure/function relationshipsSignificant genetic heterogeneityPrecise genetic defectGenetic lociMolecular biologyRed blood cell membrane disordersSplicing mutationGene deletionNonsense mutationCell membraneFunction relationshipsGenetic heterogeneityGenetic defectsHereditary elliptocytosisMembrane disordersRed blood cell membraneBlood cell membranesHereditary pyropoikilocytosisMutationsBetter understandingErythrocyte membranesMembraneLociGeneticsBiology