1996
A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.
Jenkins PB, Abou-Alfa GK, Dhermy D, Bursaux E, Féo C, Scarpa AL, Lux SE, Garbarz M, Forget BG, Gallagher PG. A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. Journal Of Clinical Investigation 1996, 97: 373-380. PMID: 8567957, PMCID: PMC507027, DOI: 10.1172/jci118425.Peer-Reviewed Original ResearchConceptsBand 3 geneCytoplasmic domainNonsense mutationGenomic DNABand 3 cytoplasmic domainErythrocyte band 3 geneErythrocyte membrane mechanical stabilityEntire transmembrane domainBand 3Membrane mechanical stabilityBand 3 proteinTransmembrane domainNucleotide sequenceRT-PCRFamily membersStudy of erythrocytesMRNA accumulationSequence analysisAnion transport studiesBand 3 defectsTypical hereditary spherocytosisHS mutationsReticulocyte RNAUnaffected family membersRNA
1995
Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene.
Gallagher PG, Weed SA, Tse WT, Benoit L, Morrow JS, Marchesi SL, Mohandas N, Forget BG. Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene. Journal Of Clinical Investigation 1995, 95: 1174-1182. PMID: 7883966, PMCID: PMC441455, DOI: 10.1172/jci117766.Peer-Reviewed Original ResearchConceptsBeta-spectrin geneErythrocyte membrane mechanical stabilityPrincipal structural proteinMembrane mechanical stabilitySpectrin functionBeta spectrinErythrocyte membranesNucleotide substitutionsStudy of erythrocytesStructural proteinsAlpha-spectrinGenetic studiesMolecular defectsPoint mutationsSpectrinHydrops fetalisRecombinant peptideMutationsGenesSevere Coomb's negative hemolytic anemiaThird-trimester fetal loss