P G Gallagher

Summary

Affiliation: Yale University
Country: USA

Publications

  1. ncbi request reprint Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    J Biol Chem 272:19220-8. 1997
  2. ncbi request reprint Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    Blood Cells Mol Dis 22:254-8. 1996
  3. ncbi request reprint An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8021, USA
    J Biol Chem 273:1339-48. 1998
  4. pmc Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    J Clin Invest 99:267-77. 1997
  5. ncbi request reprint Genomic organization and chromosomal localization of the murine 2 P domain potassium channel gene Kcnk8: conservation of gene structure in 2 P domain potassium channels
    D Bockenhauer
    Department of Pediatrics, and the Children s Clinical Research Center, Yale University School of Medicine, CT, New Haven 06520 8021, USA
    Gene 261:365-72. 2000
  6. pmc Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06437
    J Clin Invest 95:1174-82. 1995
  7. ncbi request reprint An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216)
    W T Tse
    Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510 8056
    Blood 78:517-23. 1991
  8. ncbi request reprint Spectrin oligomerization is cooperatively coupled to membrane assembly: a linkage targeted by many hereditary hemolytic anemias?
    M Giorgi
    Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Exp Mol Pathol 70:215-30. 2001
  9. pmc A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis
    P B Jenkins
    Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    J Clin Invest 97:373-80. 1996
  10. ncbi request reprint Structure, organization, and expression of the human band 7.2b gene, a candidate gene for hereditary hydrocytosis
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8021, USA
    J Biol Chem 270:26358-63. 1995

Collaborators

Detail Information

Publications34

  1. ncbi request reprint Structure and organization of the human ankyrin-1 gene. Basis for complexity of pre-mRNA processing
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    J Biol Chem 272:19220-8. 1997
    ..Utilization of alternative polyadenylation signals was found to be the basis for the previously described, stage-specific 9.0- and 7.2-kilobase pair transcripts of the ANK-1 gene...
  2. ncbi request reprint Hematologically important mutations: spectrin variants in hereditary elliptocytosis and hereditary pyropoikilocytosis
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    Blood Cells Mol Dis 22:254-8. 1996
  3. ncbi request reprint An alternate promoter directs expression of a truncated, muscle-specific isoform of the human ankyrin 1 gene
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8021, USA
    J Biol Chem 273:1339-48. 1998
    ..A polyclonal antibody raised to human ankyrin 1 muscle-specific sequences reacted with peptides of 28 and 30 kDa on immunoblots of human skeletal muscle...
  4. pmc Mutation of a highly conserved residue of betaI spectrin associated with fatal and near-fatal neonatal hemolytic anemia
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    J Clin Invest 99:267-77. 1997
    ..This mutation must also be expressed in the betaIsigma2 spectrin found in muscle, yet pathologic and immunohistochemical examination of skeletal muscle from the deceased sibling was unremarkable...
  5. ncbi request reprint Genomic organization and chromosomal localization of the murine 2 P domain potassium channel gene Kcnk8: conservation of gene structure in 2 P domain potassium channels
    D Bockenhauer
    Department of Pediatrics, and the Children s Clinical Research Center, Yale University School of Medicine, CT, New Haven 06520 8021, USA
    Gene 261:365-72. 2000
    ....
  6. pmc Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte beta-spectrin gene
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06437
    J Clin Invest 95:1174-82. 1995
    ..This is the first description of a molecular defect of the erythrocyte membrane associated with hydrops fetalis...
  7. ncbi request reprint An insertional frameshift mutation of the beta-spectrin gene associated with elliptocytosis in spectrin nice (beta 220/216)
    W T Tse
    Department of Human Genetics, Yale University School of Medicine, New Haven, CT 06510 8056
    Blood 78:517-23. 1991
    ..A model is proposed to describe the interaction between the alpha- and beta-spectrin chains and to explain the effects of the mutation found in spectrin Nice on the trypsin digestion pattern of its associated alpha chain...
  8. ncbi request reprint Spectrin oligomerization is cooperatively coupled to membrane assembly: a linkage targeted by many hereditary hemolytic anemias?
    M Giorgi
    Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06510, USA
    Exp Mol Pathol 70:215-30. 2001
    ..Collectively, these results demonstrate a molecular mechanism whereby a membrane receptor can directly promote cytoskeletal assembly...
  9. pmc A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis
    P B Jenkins
    Department of Internal Medicine, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    J Clin Invest 97:373-80. 1996
    ..These results have important implications for the role of band 3 defects in the membrane pathobiology of HS as well as for the techniques used in detection of HS mutations...
  10. ncbi request reprint Structure, organization, and expression of the human band 7.2b gene, a candidate gene for hereditary hydrocytosis
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8021, USA
    J Biol Chem 270:26358-63. 1995
    ..It directed high level expression of a reporter gene in both erythroid and nonerythroid cells. An imperfect simple sequence repeat polymorphism was identified in the 5'-flanking DNA, and an assay was developed for its analysis by PCR...
  11. ncbi request reprint Erythrocyte ankyrin promoter mutations associated with recessive hereditary spherocytosis cause significant abnormalities in ankyrin expression
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520, USA
    J Biol Chem 276:41683-9. 2001
    ..These data are the first demonstration of functional defects caused by HS-related, ankyrin gene promoter mutations...
  12. ncbi request reprint Heterogeneity of the molecular basis of hereditary pyropoikilocytosis and hereditary elliptocytosis associated with increased levels of the spectrin alpha I/74-kilodalton tryptic peptide
    P B Floyd
    Department of Internal Medicine, Yale University School of Medicine, New Haven, CT 06510
    Blood 78:1364-72. 1991
    ....
  13. ncbi request reprint A human beta-spectrin gene promoter directs high level expression in erythroid but not muscle or neural cells
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06520 8021, USA
    J Biol Chem 274:6062-73. 1999
    ..Only weak expression of the reporter gene was detected in muscle and brain tissue, suggesting that additional regulatory elements are required for high level expression of the beta-spectrin gene in these tissues...
  14. ncbi request reprint The human ankyrin-1 gene is selectively transcribed in erythroid cell lines despite the presence of a housekeeping-like promoter
    P G Gallagher
    Departments of Pediatrics, Internal Medicine and Genetics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    Blood 96:1136-43. 2000
    ..The ankyrin gene erythroid promoter was transactivated in heterologous cells by forced expression of GATA-1 and to a lesser degree BKLF...
  15. ncbi request reprint Stomatocytosis is absent in "stomatin"-deficient murine red blood cells
    Y Zhu
    Department of Pediatrics, University of California San Francisco, San Francisco, CA, USA
    Blood 93:2404-10. 1999
    ..2b deficiency plays no direct role in the etiology of this disorder and casts doubt on the previously proposed role of this protein as a mediator of cation transport in RBC...
  16. ncbi request reprint Proton block and voltage gating are potassium-dependent in the cardiac leak channel Kcnk3
    C M Lopes
    Section of Developmental Biology and Biophysics, Departments of Pediatrics and Cellular and Molecular Physiology, Boyer Center for Molecular Medicine, Yale University School of Medicine, New Haven, Connecticut 06536, USA
    J Biol Chem 275:16969-78. 2000
    ..Single Kcnk3 channels open across the physiological voltage range; hence they are "leak" conductances; however, they open only briefly and rarely even after exposure to agents that activate other potassium channels...
  17. ncbi request reprint Dynamic molecular modeling of pathogenic mutations in the spectrin self-association domain
    Z Zhang
    Department of Pathology, Yale University, New Haven, CT, USA
    Blood 98:1645-53. 2001
    ..It provides a powerful heuristic model for understanding how point mutations disrupt cytoskeletal function in a variety of hemolytic disorders...
  18. ncbi request reprint A defect in alpha-spectrin mRNA accumulation in hereditary pyropoikilocytosis
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510
    Trans Assoc Am Physicians 104:32-9. 1991
  19. ncbi request reprint A splice site mutation of the beta-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated beta-spectrin chain
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510
    J Biol Chem 266:15154-9. 1991
    ..A new in-frame stop codon is encountered following a single residue of this novel sequence...
  20. ncbi request reprint A recurrent frameshift mutation of the ankyrin gene associated with severe hereditary spherocytosis
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    Br J Haematol 111:1190-3. 2000
    ..This frameshift mutation associated with severe HS, Ankyrin Florianópolis, is the first description of a recurrent mutation in the ankyrin gene...
  21. ncbi request reprint Genomic organization and 5'-flanking DNA sequence of the murine stomatin gene (Epb72)
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut, 06520 8064, USA
    Genomics 34:410-2. 1996
    ..Inspection of the 5'-flanking DNA sequences reveals features of a TATA-less housekeeping gene promoter and consensus sequences for a number of potential DNA-binding proteins...
  22. ncbi request reprint Spectrin genes in health and disease
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510
    Semin Hematol 30:4-20. 1993
  23. pmc A common type of the spectrin alpha I 46-50a-kD peptide abnormality in hereditary elliptocytosis and pyropoikilocytosis is associated with a mutation distant from the proteolytic cleavage site. Evidence for the functional importance of the triple helical
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, Connecticut 06510
    J Clin Invest 89:892-8. 1992
    ..Disruption of this proposed alpha-helical structure by helix-breaking proline substitutions may result in a functionally defective spectrin chain...
  24. ncbi request reprint Localization of the human alpha-fodrin gene (SPTAN1) to 9q33-->q34 by fluorescence in situ hybridization
    M Upender
    Department of Genetics, Yale University School of Medicine, New Haven, CT 06510
    Cytogenet Cell Genet 66:39-41. 1994
    ....
  25. ncbi request reprint cDNA structure, tissue-specific expression, and chromosomal localization of the murine band 7.2b gene
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06510, USA
    Blood 86:359-65. 1995
    ..Database searching showed no significant homology of other known proteins to murine or human band 7.2b...
  26. pmc Alport syndrome, mental retardation, midface hypoplasia, and elliptocytosis: a new X linked contiguous gene deletion syndrome?
    J J Jonsson
    Department of Genetics, Yale University School of Medicine, New Haven, Connecticut 06520 8005, USA
    J Med Genet 35:273-8. 1998
    ....
  27. ncbi request reprint Cystic hygroma in the fetus and newborn
    P G Gallagher
    Department of Pediatrics, Yale University School of Medicine, New Haven, CT 06520 8064, USA
    Semin Perinatol 23:341-56. 1999
    ..Management strategies are reviewed, including newer nonsurgical therapies for the neonate with a cystic hygroma...
  28. ncbi request reprint Assignment of the 2P domain, acid-sensitive potassium channel OAT1 gene KCNK3 to human chromosome bands 2p24.1-->p23.3 and murine 5B by in situ hybridization
    N A Manjunath
    Department of Genetics, Yale University School of Medicine, New Haven, CT, USA
    Cytogenet Cell Genet 86:242-3. 1999
  29. ncbi request reprint Development of a stable retrovirus vector capable of long-term expression of gamma-globin mRNA in mouse erythrocytes
    D E Sabatino
    Hematopoiesis Section, Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Building 49, Room 3A14 MSC 4442, Bethesda, Maryland 20892-4442, USA
    Ann N Y Acad Sci 938:246-61. 2001
    ..We conclude that this novel retrovirus vector may be valuable for treating a variety of hemoglobinopathies by gene therapy if the level of expression can be further increased...
  30. pmc Spectrin Rouen (beta 220-218), a novel shortened beta-chain variant in a kindred with hereditary elliptocytosis. Characterization of the molecular defect as exon skipping due to a splice site mutation
    M Garbarz
    Institut National de la Santé et de la Recherche Médicale U160, Hopital Beaujon, Clichy, France
    J Clin Invest 88:76-81. 1991
    ....
  31. ncbi request reprint Spectrin St Claude, a splicing mutation of the human alpha-spectrin gene associated with severe poikilocytic anemia
    C M Fournier
    INSERM U409, Faculte de Medecine Xavier Bichat, Paris, France
    Blood 89:4584-90. 1997
    ..His heterozygous parents are clinically and biochemically normal. This allele was identified in 3% of asymptomatic individuals from Benin, Africa...
  32. ncbi request reprint Gene transfer to ankyrin-deficient bone marrow corrects spherocytosis in vitro
    G J Dooner
    Cancer Center and Gene Therapy Link Laboratory, University of Massachusetts Medical School, Worcester, USA
    Exp Hematol 28:765-74. 2000
    ....
  33. ncbi request reprint Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis
    S W Eber
    Division of Hematology Oncology, Children s Hospital, Boston, Massachusetts 02115, USA
    Nat Genet 13:214-8. 1996
    ....
  34. ncbi request reprint A minimal ankyrin promoter linked to a human gamma-globin gene demonstrates erythroid specific copy number dependent expression with minimal position or enhancer dependence in transgenic mice
    D E Sabatino
    Hematopoiesis Section, Genetics and Molecular Biology Branch, NHGRI, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 275:28549-54. 2000
    ..These data indicate that the minimal ankyrin promoter contains all sequences necessary and sufficient for erythroid-specific, copy number-dependent, position-independent expression of the human (A)gamma-globin gene...