2013
Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype
Ngo D, Bae H, Steinberg MH, Sebastiani P, Solovieff N, Baldwin CT, Melista E, Safaya S, Farrer LA, Al-Suliman AM, Albuali WH, Al Bagshi M, Naserullah Z, Akinsheye I, Gallagher P, Luo HY, Chui DH, Farrell JJ, Al-Ali AK, Alsultan A. Fetal hemoglobin in sickle cell anemia: Genetic studies of the Arab-Indian haplotype. Blood Cells Molecules And Diseases 2013, 51: 22-26. PMID: 23465615, PMCID: PMC3647015, DOI: 10.1016/j.bcmd.2012.12.005.Peer-Reviewed Original ResearchAdolescentAdultAllelesAnemia, Sickle CellArabsBeta-GlobinsCarrier ProteinsChildChild, PreschoolFetal HemoglobinGenes, mybGTP-Binding ProteinsHaplotypesHemoglobin, SickleHomeodomain ProteinsHSP70 Heat-Shock ProteinsHumansKruppel-Like Transcription FactorsLocus Control RegionMiddle AgedMutationNuclear ProteinsPeptide Elongation FactorsPolymorphism, GeneticPromoter Regions, GeneticRepressor ProteinsSequence Analysis, DNATranscription FactorsYoung Adult
2011
Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred
Houston BL, Zelinski T, Israels SJ, Coghlan G, Chodirker BN, Gallagher PG, Houston DS, Zarychanski R. Refinement of the hereditary xerocytosis locus on chromosome 16q in a large Canadian kindred. Blood Cells Molecules And Diseases 2011, 47: 226-231. PMID: 21944700, DOI: 10.1016/j.bcmd.2011.08.001.Peer-Reviewed Original ResearchConceptsNormal hemoglobin levelsLarge CanadianProgressive iron loadingRed cell hemolysisCausative genetic mutationsHemoglobin levelsIndirect hyperbilirubinemiaAffected family membersClinical hallmarkHereditary xerocytosisMorphologic evaluationHemolytic processChromosome 16qTarget cellsOsmotic fragilityPhenotypic findingsGenetic mutationsDisease phenotypeCell hemolysisIron loadingFamily membersMode of inheritanceHemolysisHeterogeneous conditionCholelithiasis
2000
A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis
Gallagher P, Ferreira J, Costa F, Saad S, Forget B. A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. British Journal Of Haematology 2000, 111: 1190-1193. DOI: 10.1111/j.1365-2141.2000.02441.x.Peer-Reviewed Original ResearchA recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis.
Gallagher P, Ferreira J, Costa F, Saad S, Forget B. A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis. British Journal Of Haematology 2000, 111: 1190-3. PMID: 11167760, DOI: 10.1046/j.1365-2141.2000.02441.x.Peer-Reviewed Original Research
1997
Genetic basis of the polymorphisms of the αI domain of spectrin
Gallagher P, Romana M, Wong C, Forget B. Genetic basis of the polymorphisms of the αI domain of spectrin. American Journal Of Hematology 1997, 56: 107-111. PMID: 9326352, DOI: 10.1002/(sici)1096-8652(199710)56:2<107::aid-ajh6>3.0.co;2-2.Peer-Reviewed Original ResearchConceptsGenetic basisHereditary elliptocytosisHereditary pyropoikilocytosisDistinct haplotypesGenetic analysisProtein phenotypeAlpha-spectrinChromosomal backgroundΑI domainSpectrinPolymorphismMutationsHaplotypesPhenotypeElliptocytosisPyropoikilocytosisPCRAssaysFamilyGene polymorphismsDomainIdentification
1996
Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis.
Gallagher PG, Kotula L, Wang Y, Marchesi SL, Curtis PJ, Speicher DW, Forget BG. Molecular basis and haplotyping of the alphaII domain polymorphisms of spectrin: application to the study of hereditary elliptocytosis and pyropoikilocytosis. American Journal Of Human Genetics 1996, 59: 351-9. PMID: 8755921, PMCID: PMC1914747.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnemia, Hemolytic, CongenitalAsianAsian PeopleBase SequenceBiological EvolutionBlack PeopleElliptocytosis, HereditaryErythrocytes, AbnormalHaplotypesHumansModels, GeneticMolecular Sequence DataMutagenesis, InsertionalPolymorphism, GeneticPrevalenceRepetitive Sequences, Nucleic AcidSpectrinUnited StatesWhite PeopleConceptsAlpha-spectrin geneAmino acid sequenceAcid sequenceHereditary elliptocytosisAlpha-spectrin chainHereditary pyropoikilocytosisPrincipal structural proteinErythrocyte membrane skeletonSingle nucleotide substitutionEvolutionary originLimited tryptic digestionMembrane skeletonMolecular basisGenomic DNANucleotide substitutionsStructural proteinsAlpha-spectrinDifferent haplotypesFounder effectGenesLinkage disequilibriumOnly haplotypeSpectrin proteinsCommon haplotypeTryptic digestion