R T Swank

Summary

Affiliation: University at Buffalo
Country: USA

Publications

  1. ncbi request reprint Cocoa: a new mouse model for platelet storage pool deficiency
    E K Novak
    Roswell Park Memorial Institute, Department of Molecular and Cellular Biology, Buffalo, New York 14263
    Br J Haematol 69:371-8. 1988
  2. ncbi request reprint Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome
    R T Swank
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Pigment Cell Res 13:59-67. 2000
  3. ncbi request reprint Mouse models of Hermansky Pudlak syndrome: a review
    R T Swank
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Pigment Cell Res 11:60-80. 1998
  4. ncbi request reprint Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse
    L Zhen
    Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Buffalo, NY, USA
    Blood 94:146-55. 1999
  5. ncbi request reprint Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome
    M P McGarry
    Department of Laboratoy Animal Resource, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Proc Soc Exp Biol Med 220:162-8. 1999
  6. ncbi request reprint Inherited abnormalities in platelet organelles and platelet formation and associated altered expression of low molecular weight guanosine triphosphate-binding proteins in the mouse pigment mutant gunmetal
    R T Swank
    Dept of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263
    Blood 81:2626-35. 1993
  7. ncbi request reprint Analyses of proteins involved in vesicular trafficking in platelets of mouse models of Hermansky Pudlak syndrome
    B Richards-Smith
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Mol Genet Metab 68:14-23. 1999
  8. ncbi request reprint The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
    L Feng
    Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo NY 14263, USA
    Hum Mol Genet 8:323-30. 1999
  9. ncbi request reprint Genomic structure of the mouse Ap3b1 gene in normal and pearl mice
    L Feng
    Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, New York 14263, USA
    Genomics 69:370-9. 2000
  10. ncbi request reprint Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time
    M E Rusiniak
    Molecular and Cellular Biology Department, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Mamm Genome 7:98-102. 1996

Collaborators

Detail Information

Publications46

  1. ncbi request reprint Cocoa: a new mouse model for platelet storage pool deficiency
    E K Novak
    Roswell Park Memorial Institute, Department of Molecular and Cellular Biology, Buffalo, New York 14263
    Br J Haematol 69:371-8. 1988
    ..Cocoa may be a model for cases of human Hermansky-Pudlak syndrome in which functions of melanosomes and platelet dense granules, but not lysosomes, are involved...
  2. ncbi request reprint Abnormal vesicular trafficking in mouse models of Hermansky-Pudlak syndrome
    R T Swank
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Pigment Cell Res 13:59-67. 2000
    ..Recent physiological studies have shown that mouse HPS mutants, like their human HPS counterparts, have variably reduced lifespans and may have lung abnormalities...
  3. ncbi request reprint Mouse models of Hermansky Pudlak syndrome: a review
    R T Swank
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Pigment Cell Res 11:60-80. 1998
    ....
  4. ncbi request reprint Abnormal expression and subcellular distribution of subunit proteins of the AP-3 adaptor complex lead to platelet storage pool deficiency in the pearl mouse
    L Zhen
    Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Buffalo, NY, USA
    Blood 94:146-55. 1999
    ..These and related experiments strongly suggest that the AP-3 complex regulates the biogenesis/function of organelles of platelets and other cells and that abrogation of expression of the AP-3 complex leads to platelet SPD...
  5. ncbi request reprint Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome
    M P McGarry
    Department of Laboratoy Animal Resource, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Proc Soc Exp Biol Med 220:162-8. 1999
    ....
  6. ncbi request reprint Inherited abnormalities in platelet organelles and platelet formation and associated altered expression of low molecular weight guanosine triphosphate-binding proteins in the mouse pigment mutant gunmetal
    R T Swank
    Dept of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263
    Blood 81:2626-35. 1993
    ..The data indicate that platelet formation and platelet organelle biogenesis are under common genetic control and that abnormal regulation of GTP-binding proteins may affect one or both processes...
  7. ncbi request reprint Analyses of proteins involved in vesicular trafficking in platelets of mouse models of Hermansky Pudlak syndrome
    B Richards-Smith
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Mol Genet Metab 68:14-23. 1999
    ..The Snap23 gene was mapped to mouse chromosome 5, demonstrating it cannot encode the gm gene, which maps to chromosome 14. It is likely therefore that the gm gene functions upstream of SNAP-23 in vesicular trafficking...
  8. ncbi request reprint The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky-Pudlak syndrome and night blindness
    L Feng
    Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo NY 14263, USA
    Hum Mol Genet 8:323-30. 1999
    ..These experiments also suggest mutations in AP-3 subunits as a basis for unique forms of human Hermansky-Pudlak syndrome and congenital night blindness, for which the pearl mouse is an appropriate animal model...
  9. ncbi request reprint Genomic structure of the mouse Ap3b1 gene in normal and pearl mice
    L Feng
    Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, New York 14263, USA
    Genomics 69:370-9. 2000
    ..At the cDNA level, three pearl mutations (pearl, pearl-8J, and pearl-9J) are caused by deletions or duplications of a complete exon(s)...
  10. ncbi request reprint Molecular markers near the mouse brachymorphic (bm) gene, which affects connective tissues and bleeding time
    M E Rusiniak
    Molecular and Cellular Biology Department, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Mamm Genome 7:98-102. 1996
    ..Identification of these genes may reveal novel relationships between osteogenesis and hemostasis...
  11. ncbi request reprint 5'-UTR structural organization, transcript expression, and mutational analysis of the human Rab geranylgeranyl transferase alpha-subunit (RABGGTA) gene
    W Li
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Streets, Buffalo, New York 14263, USA
    Mol Genet Metab 71:599-608. 2000
    ..Knowledge of the 5'-UTR structure of RABGGTA and its common polymorphisms will be useful for mutation screening or linkage analysis in patients with albinism, thrombocytopenia, or platelet SPD...
  12. ncbi request reprint Inherited prolonged bleeding time and platelet storage pool deficiency in the subtle gray (sut) mouse
    R T Swank
    Molecular and Cellular Biology Department, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Lab Anim Sci 46:56-60. 1996
    ..They indicate, together with related experiments, that bleeding times are highly sensitive to concentrations of platelet dense granule components such as serotonin...
  13. ncbi request reprint Molecular markers near two mouse chromosome 13 genes, muted and pearl, which cause platelet storage pool deficiency (SPD)
    E P O'Brien
    Molecular and Cellular Biology Department, Roswell Park Cancer Institute, Buffalo, New York 14263
    Mamm Genome 6:19-24. 1995
    ..These markers should aid the eventual molecular identification of these specific SPD genes...
  14. ncbi request reprint Increased incidence and analysis of emperipolesis in megakaryocytes of the mouse mutant gunmetal
    M P McGarry
    Department of Laboratory Animal Resources, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    Exp Mol Pathol 66:191-200. 1999
    ..A significant practical finding of these studies was the demonstration that increased emperipolesis results in a significant "right shift" in megakaryocyte ploidy determined by flow cytometry...
  15. ncbi request reprint Sandy: a new mouse model for platelet storage pool deficiency
    R T Swank
    Roswell Park Cancer Institute, Molecular and Cellular Biology Department, Buffalo, NY 14263
    Genet Res 58:51-62. 1991
    ..It represents the tenth example of a mouse mutant with simultaneous defects in melanosomes, lysosomes and/or platelet dense granules...
  16. ncbi request reprint Effects of mixed chimeric bone marrow repopulation on platelet storage pool-associated bleeding defects in mouse mutants
    M P McGarry
    Department of Molecular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263
    Exp Hematol 18:1174-9. 1990
    ..Also, in future gene therapy of this disease, it is like that a functional gene will have to be present in greater than 50% of stem cells for therapy to be effective...
  17. ncbi request reprint Inherited thrombocytopenia caused by reduced platelet production in mice with the gunmetal pigment gene mutation
    E K Novak
    Molecular and Cellular Biology Department, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Blood 85:1781-9. 1995
    ..Collectively, the results indicate that the gunmetal gene acts intrinsically in megakaryocytes and that an abnormality in this gene causes significant qualitative and quantitative effects on platelet production...
  18. ncbi request reprint High-resolution genetic mapping of the gunmetal gene which regulates platelet production
    E P O'Brien
    Roswell Park Cancer Institute, Molecular and Cellular Biology Department, Buffalo, New York 14263, USA
    Mamm Genome 7:206-8. 1996
  19. ncbi request reprint Molecular map of chromosome 19 including three genes affecting bleeding time: ep, ru, and bm
    E P O'Brien
    Molecular and Cellular Biology Department, Roswell Park Cancer Institute, Buffalo, New York 14263
    Mamm Genome 5:356-60. 1994
    ..Several markers were found to be closely linked to the three genes and should be useful as entry points in their eventual molecular identification...
  20. ncbi request reprint The beta-glucuronidase propeptide contains a serpin-related octamer necessary for complex formation with egasyn esterase and for retention within the endoplasmic reticulum
    L Zhen
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, New York 14263, USA
    J Biol Chem 270:11912-20. 1995
    ..These and related results demonstrate that complex formation with esterases/proteinases within the ER is important in the subcellular targeting and/or processing of certain proteins...
  21. ncbi request reprint Biosynthesis of renin in mouse kidney tumor As4.1 cells
    C A Jones
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    Eur J Biochem 243:181-90. 1997
    ..These cells have enabled characterization of glycosylated mouse renin-1 and may prove a valuable tool for studying intracellular trafficing of renin and associated processing enzymes...
  22. ncbi request reprint cDNA sequence and mapping of the mouse Copb gene encoding the beta subunit of the COPI coatomer complex
    W Li
    Department of Molecular and Cellular Biology, Roswell Park Cancer Institute, Elm and Carlton Sts, Buffalo, New York 14263, USA
    Somat Cell Mol Genet 25:177-83. 1999
    ..The Copb gene was mapped to mouse Chr 7 at a position of 53.3 cM by radiation hybrid mapping. Our RH mapping data, sequencing of RT-PCR products, and Western blotting exclude the Copb gene as a candidate for ru2...
  23. ncbi request reprint Platelet storage pool deficiency associated with inherited abnormalities of the inner ear in the mouse pigment mutants muted and mocha
    R T Swank
    Department of Molecular and Cell Biology, Roswell Park Cancer Institute, Buffalo, NY 14263
    Blood 78:2036-44. 1991
    ....
  24. ncbi request reprint The propeptide of beta-glucuronidase. Further evidence of its involvement in compartmentalization of beta-glucuronidase and sequence similarity with portions of the reactive site region of the serpin superfamily
    H Li
    Roswell Park Cancer Institute, Molecular and Cellular Biology Department, Buffalo, New York 14263
    J Biol Chem 265:14732-5. 1990
    ....
  25. ncbi request reprint Analysis of atherosclerosis susceptibility in mice with genetic defects in platelet function
    B Paigen
    Children s Hospital, Oakland Research Institute, Children s Hospital Medical Center, California
    Arteriosclerosis 10:648-52. 1990
    ..The identity of that component remains an interesting question whose answer may provide further insight into the atherosclerotic disease process...
  26. ncbi request reprint Correction of symptoms of platelet storage pool deficiency in animal models for Chediak-Higashi syndrome and Hermansky-Pudlak syndrome
    E K Novak
    Blood 66:1196-201. 1985
    ..Also, the studies suggest that in severe cases, platelet SPD may be successfully treated by bone marrow transplantation...
  27. pmc Rab geranylgeranyl transferase alpha mutation in the gunmetal mouse reduces Rab prenylation and platelet synthesis
    J C Detter
    Departments of Medicine, Molecular Genetics and Microbiology, Pathology and Laboratory Medicine, and Pediatrics, and Center for Mammalian Genetics, University of Florida, 1600 SW Archer Road, Gainesville, FL 32610, USA
    Proc Natl Acad Sci U S A 97:4144-9. 2000
    ..These findings indicate that geranylgeranylation of Rab GTPases is critical for hemostasis. Rab GGTase inhibition may represent a new treatment for thrombocytosis and clotting disorders...
  28. pmc A mutation in Rab27a causes the vesicle transport defects observed in ashen mice
    S M Wilson
    Mouse Cancer Genetics Program, National Cancer Institute Frederick Cancer Research and Development Center, Frederick, MD 21702, USA
    Proc Natl Acad Sci U S A 97:7933-8. 2000
    ..Collectively, our studies identify Rab27a as a critical gene for organelle-specific protein trafficking in melanocytes and platelets and suggest that Rab27a functions in both MyoVa dependent and independent pathways...
  29. ncbi request reprint Progenitor cell defect correctable by bone marrow transplantation in five independent mouse models of platelet storage pool deficiency
    M P McGarry
    Exp Hematol 14:261-5. 1986
    ..These findings suggest that in severe cases human SPD may be amenable to treatment by bone marrow transplantation...
  30. ncbi request reprint Platelet storage pool deficiency in mouse pigment mutations associated with seven distinct genetic loci
    E K Novak
    Blood 63:536-44. 1984
    ..Also, the results emphasize the genetic, morphological, and functional interrelatedness of three organelles: melanosomes, lysosomes, and platelet dense granules...
  31. pmc Lysosomal dysfunctions associated with mutations at mouse pigment genes
    E K Novak
    Genetics 92:189-204. 1979
    ..The mechanism of action of these genes is amenable to further analysis since they have been incorporated into congenic inbred strains of mice...
  32. pmc The mouse pale ear (ep) mutation is the homologue of human Hermansky-Pudlak syndrome
    J M Gardner
    The Institute for Cancer Research, Fox Chase Cancer Center, Philadelphia, PA 19111, USA
    Proc Natl Acad Sci U S A 94:9238-43. 1997
    ..These results establish an animal model of HPS and will facilitate biochemical and molecular analyses of the functions of this protein in the membranes of specialized intracellular organelles...
  33. pmc Turnover of kidney beta-glucuronidase in normal and Chédiak-Higashi (beige) mice
    R T Swank
    Am J Pathol 92:755-72. 1978
    ..The altered secretion of lysosomal enzymes from specific kidney cells of beige mice may serve as a model system for study of defective fusion of lysosomes with phagocytosed bacteria in cells of Chédiak-Higashi patients...
  34. ncbi request reprint Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico
    Y Anikster
    Section on Human Biochemical Genetics, Heritable Disorders Branch, National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nat Genet 28:376-80. 2001
    ..We also present an allele-specific assay for diagnosing individuals heterozygous or homozygous for this mutation...
  35. pmc Lysosomal elastase and cathepsin G in beige mice. Neutrophils of beige (Chediak-Higashi) mice selectively lack lysosomal elastase and cathepsin G
    K Takeuchi
    J Exp Med 163:665-77. 1986
    ..The lowered proteinase activity may contribute to the high susceptibility of beige mice and Chediak-Higashi patients to infection...
  36. ncbi request reprint The mouse pale ear pigment mutant as a possible animal model for human platelet storage pool deficiency
    E K Novak
    Blood 57:38-43. 1981
    ..Studies on this mutant and other pigment mutants have established that one gene can regulate at least three subcellular organelles, including the melanosome, the lysosome, and the platelet dense granule...
  37. ncbi request reprint Altered secretion of kidney lysosomal enzymes in the mouse pigment mutants ruby-eye, ruby-eye-2-J, and maroon
    E K Novak
    Biochem Genet 18:549-61. 1980
    ..Eight mouse pigment mutants are not known which affect both melanosome and lysosome function. They should serve as useful models for the study of the biogenesis, structure, and processing of these and other subcellular organelles...
  38. ncbi request reprint Kidney and retinal defects (Krd), a transgene-induced mutation with a deletion of mouse chromosome 19 that includes the Pax2 locus
    S A Keller
    Department of Human Genetics, University of Michigan, Ann Arbor 48109 0618
    Genomics 23:309-20. 1994
    ..This deletion, Del(19)TgN8052Mm, will be useful for genetic and functional studies of this region of mouse Chromosome 19...
  39. ncbi request reprint Genetic control of glucuronidase induction in mice
    R T Swank
    J Mol Biol 81:225-43. 1973
  40. ncbi request reprint The gene encoding the thrombin receptor (Cf2r) maps to mouse chromosome 13
    C Poirier
    Unite de Genetique des Mammiferes, Institut Pasteur, 25 rue du Docteur Roux, 75724 Paris Cedex 15, France
    Mamm Genome 7:322. 1996
  41. pmc Effects of ammonia on processing and secretion of precursor and mature lysosomal enzyme from macrophages of normal and pale ear mice: evidence for two distinct pathways
    J A Brown
    J Cell Biol 100:1894-904. 1985
    ..These results suggest that ammonia-treated macrophages contain two distinct intracellular pathways for secretion of lysosomal enzymes and that a specific block in the release of lysosomal contents occurs in the pale ear mutant...
  42. ncbi request reprint An integrated genetic map of the pearl locus of mouse chromosome 13
    A B Seymour
    Department of Human Genetics, University of Pittsburgh, Pennsylvania 15213, USA
    Genome Res 6:538-44. 1996
    ....
  43. ncbi request reprint von Willebrand disease in the RIIIS/J mouse is caused by a defect outside of the von Willebrand factor gene
    W C Nichols
    Howard Hughes Medical Institute, Ann Arbor, MI
    Blood 83:3225-31. 1994
    ..These observations may provide new insights into the molecular basis and variable expressivity of human vWD...
  44. ncbi request reprint von Willebrand disease in the RIIIS/J mouse is caused by a defect outside of the von Willebrand factor gene
    W C Nichols
    Blood 86:2461. 1995
  45. pmc Defective lysosomal enzyme secretion in kidneys of Chediak-Higashi (beige) mice
    E J Brandt
    J Cell Biol 67:774-88. 1975
    ..A similar defect could account for characteristics of the Chediak-Higashi syndrome...
  46. ncbi request reprint The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene
    T Suzuki
    Human Medical Genetics Program, University of Colorado Health Sciences Center, 4200 East Ninth Avenue, B161, Denver, Colorado 80262, USA
    Genomics 78:30-7. 2001
    ..Analysis of coa-mutant mice and cultured coa-mutant mouse melanocytes indicates that the normal coa gene product is involved in early stages of melanosome biogenesis and maturation...