2014
Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus
Bogardus H, Schulz VP, Maksimova Y, Miller BA, Li P, Forget BG, Gallagher PG. Severe nondominant hereditary spherocytosis due to uniparental isodisomy at the SPTA1 locus. Haematologica 2014, 99: e168-e170. PMID: 24895341, PMCID: PMC4562552, DOI: 10.3324/haematol.2014.110312.Peer-Reviewed Original Research
2001
Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression*
Gallagher P, Sabatino D, Basseres D, Nilson D, Wong C, Cline A, Garrett L, Bodine D. Erythrocyte Ankyrin Promoter Mutations Associated with Recessive Hereditary Spherocytosis Cause Significant Abnormalities in Ankyrin Expression*. Journal Of Biological Chemistry 2001, 276: 41683-41689. PMID: 11527968, DOI: 10.1074/jbc.m105844200.Peer-Reviewed Original Research
2000
A Minimal Ankyrin Promoter Linked to a Human γ-Globin Gene Demonstrates Erythroid Specific Copy Number Dependent Expression with Minimal Position or Enhancer Dependence in Transgenic Mice*
Sabatino D, Wong C, Cline A, Pyle L, Garrett L, Gallagher P, Bodine D. A Minimal Ankyrin Promoter Linked to a Human γ-Globin Gene Demonstrates Erythroid Specific Copy Number Dependent Expression with Minimal Position or Enhancer Dependence in Transgenic Mice*. Journal Of Biological Chemistry 2000, 275: 28549-28554. PMID: 10878017, DOI: 10.1074/jbc.m004043200.Peer-Reviewed Original ResearchConceptsAnkyrin promoterPosition-independent expressionErythroid cellsGlobin genesGlobin mRNAHuman γ-globin genesMouse alpha-globin mRNABeta-globin locus control regionAdult erythroid cellsANK-1 geneΓ-globin geneCopy number-dependent expressionLocus control regionErythroid-specific expressionAlpha-globin mRNAFetal erythroid cellsNumber-dependent expressionGlobin mRNA expressionErythrocyte membrane skeletonTransgene copy numberHS2 enhancerTransgenic linesGlobin transgenesControl regionTransgenic mice