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
2008
Ankyrin‐linked hereditary spherocytosis in an African–American kindred
Sangerman J, Maksimova Y, Edelman EJ, Morrow JS, Forget BG, Gallagher PG. Ankyrin‐linked hereditary spherocytosis in an African–American kindred. American Journal Of Hematology 2008, 83: 789-794. PMID: 18704959, PMCID: PMC11304496, DOI: 10.1002/ajh.21254.Peer-Reviewed Original ResearchConceptsInitiator methionineNull allelesErythrocyte membrane protein genesMembrane protein geneRabbit reticulocyte lysateTissue-specific promotersErythrocyte membrane skeletonExon 1 sequencesIsoform diversityAlternative splicingTranslation initiationProtein geneAnkyrin geneMembrane skeletonAlternate polyadenylationPlasma membraneReticulocyte lysateMethionine mutationCOOH terminusErythroid cellsDownstream codonsGenomic DNANumerous isoformsAnkyrinGenes
2005
A novel splicing mutation of the α-spectrin gene in the original hereditary pyropoikilocytosis kindred
Costa DB, Lozovatsky L, Gallagher PG, Forget BG. A novel splicing mutation of the α-spectrin gene in the original hereditary pyropoikilocytosis kindred. Blood 2005, 106: 4367-4369. PMID: 16150946, PMCID: PMC1895230, DOI: 10.1182/blood-2005-05-1813.Peer-Reviewed Original ResearchConceptsFrame premature termination codonsRed blood cell membrane skeletonCell membrane skeletonΑ-spectrin geneHereditary pyropoikilocytosisPremature termination codonConsensus splice sitesTissue culture cellsNovel splicing mutationMembrane skeletonIntronic fragmentTermination codonGene transcriptsAlpha-spectrinAbnormal splicingSplice siteStructural variantsGene transferMolecular defectsSplicing mutationCulture cellsAllelesExon 22TranscriptsMutations
1999
Exclusion of the stomatin, α‐adducin and β‐adducin loci in a large kindred with dehydrated hereditary stomatocytosis
Innes D, Sinard J, Gilligan D, Snyder L, Gallagher P, Morrow J. Exclusion of the stomatin, α‐adducin and β‐adducin loci in a large kindred with dehydrated hereditary stomatocytosis. American Journal Of Hematology 1999, 60: 72-74. PMID: 9883810, DOI: 10.1002/(sici)1096-8652(199901)60:1<72::aid-ajh13>3.0.co;2-8.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 polymorphismsDomainIdentificationSpectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia
Fournier C, Nicolas G, Gallagher P, Dhermy D, Grandchamp B, Lecomte M. Spectrin St Claude, a Splicing Mutation of the Human α-Spectrin Gene Associated With Severe Poikilocytic Anemia. Blood 1997, 89: 4584-4590. PMID: 9192783, DOI: 10.1182/blood.v89.12.4584.Peer-Reviewed Original ResearchConceptsAlpha-spectrin chainAcceptor splice siteSplice siteSplicing mutationAlpha-spectrin geneΑ-spectrin geneExon 20New acceptor splice siteMolecular basisTermination codonNovel mRNAInsertion upstreamTract mutationsTryptic digestionMutationsG mutationGenesMRNAHeterozygous parentsErythrocyte membranesMembraneFrame skippingCodonSitesVariantsAmino‐acid substitution in α‐spectrin commonly coinherited with nondominant hereditary spherocytosis
Tse W, Gallagher P, Jenkins P, Wang Y, Benoit L, Speicher D, Winkelmann J, Agre P, Forget B, Marchesi S. Amino‐acid substitution in α‐spectrin commonly coinherited with nondominant hereditary spherocytosis. American Journal Of Hematology 1997, 54: 233-241. PMID: 9067503, DOI: 10.1002/(sici)1096-8652(199703)54:3<233::aid-ajh10>3.0.co;2-e.Peer-Reviewed Original ResearchConceptsHereditary spherocytosisAlpha-spectrin geneNumber of patientsSevere hemolytic anemiaAmino acid substitutionsHemolytic anemiaPatientsPatterns of transmissionDifferent kindredsPolymorphic variantsAffected individualsErythrocyte spectrinGene defectsGenomic DNA analysisTrue homozygotesDisordersSpherocytosisSpectrin chainsGenomic DNAAlpha-spectrinKindredsLinkage disequilibriumΑ-spectrinAmino acidsDomain peptide
1994
Location and PCR‐based detection of three polymorphisms of the human erythrocyte β‐spectrin gene (SPTB)
Gallagher P, Lecomte M, Galand C, Wang Y, Tse W, Forget B. Location and PCR‐based detection of three polymorphisms of the human erythrocyte β‐spectrin gene (SPTB). British Journal Of Haematology 1994, 88: 413-414. PMID: 7803294, DOI: 10.1111/j.1365-2141.1994.tb05043.x.Peer-Reviewed Original ResearchSpectrin St Louis and the αLELV Allele
Gallagher P, Forget B. Spectrin St Louis and the αLELV Allele. Blood 1994, 84: 1686-1687. PMID: 8068958, DOI: 10.1182/blood.v84.5.1686.1686.Peer-Reviewed Original Research
1993
Poikilocytic Hereditary Elliptocytosis Associated With Spectrin Alexandria: An al/50b Kd Variant That Is Caused by a Single Amino Acid Deletion
Gallagher P, Roberts W, Benoit L, Speicher D, Marchesi S, Forget B. Poikilocytic Hereditary Elliptocytosis Associated With Spectrin Alexandria: An al/50b Kd Variant That Is Caused by a Single Amino Acid Deletion. Blood 1993, 82: 2210-2215. PMID: 8400271, DOI: 10.1182/blood.v82.7.2210.2210.Peer-Reviewed Original ResearchConceptsRed blood cellsHereditary elliptocytosisPolymerase chain reactionHeterogeneous disorderBlood cellsSingle amino acid deletionImpaired abilityDifferent severityChain reactionKD variantAffected individualsAlpha iAbnormal peptideAmino acid deletionSpectrin dimer self-associationProteolytic cleavage sitesResidues 470KD peptidePosition 470Limited tryptic digestionAcid deletionProteolytic cleavageErythrocyte membranesAmino acid sequence analysisIndividuals