2018
Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations
Lezon-Geyda K, Rose M, McNaull M, Knoll C, Yaish H, Pastore Y, Fermi E, Glader B, Bianchi P, Grace R, Gallagher P. Pklr Intron Splicing-Associated Mutations and Alternate Diagnoses Are Common in Pyruvate Kinase Deficient Patients with Single or No Pklr Coding Mutations. Blood 2018, 132: 3607. DOI: 10.1182/blood-2018-99-117805.Peer-Reviewed Original ResearchWhole-genome sequencingPyruvate kinase-deficient patientsSplice siteDonor splice sitePyruvate kinasePK-deficient patientsGenome sequencingPKLR geneSequence analysisWhole-exome sequencingIntron mutationsDominant negative phenotypeExon 7Exon 10Detailed sequence analysisPyruvate kinase geneDisease-associated variantsRare genetic variantsNormal mRNA processingSplice acceptor siteRegion mutationsIntron retentionErythroid promoterGenome databasePremature chain termination
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