R S Smith

Summary

Affiliation: The Jackson Laboratory
Country: USA

Publications

  1. pmc Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma
    Michael G Anderson
    The Jackson Laboratory, Bar Harbor, ME, USA
    BMC Biol 4:20. 2006
  2. pmc The mouse anterior chamber angle and trabecular meshwork develop without cell death
    R S Smith
    The Howard Hughes Medical Institute
    BMC Dev Biol 1:3. 2001
  3. ncbi request reprint Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract
    R S Smith
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genomics 63:314-20. 2000
  4. pmc The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization
    R S Smith
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Proc Natl Acad Sci U S A 97:2191-5. 2000
  5. ncbi request reprint A goniolens for clinical monitoring of the mouse iridocorneal angle and optic nerve
    Richard S Smith
    The Howard Hughes Medical Institute and The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Mol Vis 8:26-31. 2002
  6. pmc Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice
    M G Anderson
    The Howard Hughes Medical Institute, Bar Harbor, Maine, USA
    BMC Genet 2:1. 2001
  7. ncbi request reprint Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice
    B Chang
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Nat Genet 21:405-9. 1999
  8. pmc Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure
    B Chang
    The Howard Hughes Medical Institute, USA
    BMC Genet 2:18. 2001
  9. ncbi request reprint Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens
    N L Hawes
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Invest Ophthalmol Vis Sci 41:3149-57. 2000
  10. ncbi request reprint Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
    R S Smith
    The Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 9:1021-32. 2000

Detail Information

Publications52

  1. pmc Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma
    Michael G Anderson
    The Jackson Laboratory, Bar Harbor, ME, USA
    BMC Biol 4:20. 2006
    ..We initiated a study of congenic strains to further define the genetic requirements and disease mechanisms of the D2 glaucoma...
  2. pmc The mouse anterior chamber angle and trabecular meshwork develop without cell death
    R S Smith
    The Howard Hughes Medical Institute
    BMC Dev Biol 1:3. 2001
    ..Few studies have assessed the normal structure and development of the mouse angle. We used light and electron microscopy and a cell death assay to define the sequence of events underlying formation of the angle structures in mice...
  3. ncbi request reprint Lop12, a mutation in mouse Crygd causing lens opacity similar to human Coppock cataract
    R S Smith
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genomics 63:314-20. 2000
    ..It is predicted that the defective gene product alters protein folding of the gamma-crystallin(s) and results in lens opacity...
  4. pmc The bst locus on mouse chromosome 16 is associated with age-related subretinal neovascularization
    R S Smith
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Proc Natl Acad Sci U S A 97:2191-5. 2000
    ..This represents a spontaneous, genetically determined model of SRN. Bst/+ mice offer the possibility of exploring the molecular mechanisms of SRN without the need for exogenous agents...
  5. ncbi request reprint A goniolens for clinical monitoring of the mouse iridocorneal angle and optic nerve
    Richard S Smith
    The Howard Hughes Medical Institute and The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Mol Vis 8:26-31. 2002
    ..Due to the increasing importance of mouse models and mouse genetics in ophthalmic research, we have developed a goniolens for mice...
  6. pmc Genetic modification of glaucoma associated phenotypes between AKXD-28/Ty and DBA/2J mice
    M G Anderson
    The Howard Hughes Medical Institute, Bar Harbor, Maine, USA
    BMC Genet 2:1. 2001
    ..The purpose of this study was to determine if the effects of the DBA/2J derived isa and ipd loci are modified in strain AKXD-28/Ty...
  7. ncbi request reprint Interacting loci cause severe iris atrophy and glaucoma in DBA/2J mice
    B Chang
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Nat Genet 21:405-9. 1999
    ..Progeny homozygous for the D2 alleles of both ipd and isa develop an earlier onset and more severe disease involving pigment dispersion and iris stromal atrophy...
  8. pmc Haploinsufficient Bmp4 ocular phenotypes include anterior segment dysgenesis with elevated intraocular pressure
    B Chang
    The Howard Hughes Medical Institute, USA
    BMC Genet 2:18. 2001
    ..Bone morphogenetic proteins (BMPs) participate in various developmental processes. We tested the importance of Bmp4 gene dosage for ocular development and developmental glaucoma...
  9. ncbi request reprint Retinal degeneration 6 (rd6): a new mouse model for human retinitis punctata albescens
    N L Hawes
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Invest Ophthalmol Vis Sci 41:3149-57. 2000
    ..To characterize the genetics and phenotype of a new mouse mutant with retinal degeneration, rd6, that is associated with extensive, scattered, small white retinal dots seen ophthalmoscopically...
  10. ncbi request reprint Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ocular development
    R S Smith
    The Howard Hughes Medical Institute, The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 9:1021-32. 2000
    ....
  11. ncbi request reprint Lens epithelial proliferation cataract in segmental trisomy involving mouse Chromosomes 4 and 17
    R S Smith
    The Jackson Laboratory, Box 261, 600 Main St, Bar Harbor, Maine 04609, USA
    Mamm Genome 10:102-6. 1999
    ..The morphological changes observed in the lens resemble those seen in some human congenital cataract syndromes...
  12. pmc Intraocular pressure in genetically distinct mice: an update and strain survey
    O V Savinova
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    BMC Genet 2:12. 2001
    ....
  13. ncbi request reprint Identification of a missense mutation in the alphaA-crystallin gene of the lop18 mouse
    B Chang
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Mol Vis 5:21. 1999
    ..Here we report the identification of a missense mutation in the alphaA-crystallin gene of lop18/lop18 mutant mice...
  14. ncbi request reprint Chromosomal localization of a new mouse lens opacity gene (lop18)
    B Chang
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Genomics 36:171-3. 1996
    ..It is a likely candidate mutation for the alpha-crystallin (Crya1) gene...
  15. ncbi request reprint Severe ocular abnormalities in C57BL/6 but not in 129/Sv p53-deficient mice
    S Ikeda
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Invest Ophthalmol Vis Sci 40:1874-8. 1999
    ..To demonstrate the importance of genetic background interaction on the development of ocular phenotypes in p53-deficient mice...
  16. pmc Alms1-disrupted mice recapitulate human Alström syndrome
    G B Collin
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 14:2323-33. 2005
    ..These findings suggest that ALMS1 has a role in intracellular trafficking...
  17. ncbi request reprint Mouse fundus photography and angiography: a catalogue of normal and mutant phenotypes
    N L Hawes
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Mol Vis 5:22. 1999
    ..The purpose of this work was to develop procedures for mouse fundus photography and angiography and to use these techniques to examine several new mouse strains with ocular abnormalities...
  18. ncbi request reprint Mouse genetics: a tool to help unlock the mechanisms of glaucoma
    S W John
    Howard Hughes Medical Institute and The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    J Glaucoma 8:400-12. 1999
    ..This article summarizes the recent use of mice and the future potential of applying approaches of mouse genetics to intraocular pressure and glaucoma research...
  19. ncbi request reprint Mouse models for the Wolf-Hirschhorn deletion syndrome
    D Naf
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 10:91-8. 2001
    ..This collection of nested chromosomal deletions will be useful for mapping and identifying loci responsible for the various subphenotypes of WHS, and provides a paradigm for the dissection of other deletion syndromes using the mouse...
  20. ncbi request reprint Corn1: a mouse model for corneal surface disease and neovascularization
    R S Smith
    Jackson Laboratory, Bar Harbor, Maine 04609 1500, USA
    Invest Ophthalmol Vis Sci 37:397-404. 1996
    ..To describe a new mouse model of corneal surface disease and neovascularization...
  21. ncbi request reprint Mouse mutations as models for studying cataracts
    R S Smith
    Jackson Laboratory, Bar Harbor, Me 04660, USA
    Pathobiology 65:146-54. 1997
    ..These mutations are of potential value in deciphering the molecular mechanisms involved in cataract formation. This report reviews the currently published cataract mutations in mice...
  22. ncbi request reprint Retinal degeneration but not obesity is observed in null mutants of the tubby-like protein 1 gene
    S Ikeda
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Hum Mol Genet 9:155-63. 2000
    ..However, TUB and TULP1 show a distinctly different staining pattern in the nucleus of these neurons, perhaps explaining the difference in body weight between the Tulp1 (-/-)and tubby mutant mice...
  23. doi request reprint Approaches to Investigating Complex Genetic Traits in a Large-Scale Inbred Mouse Aging Study
    J P Sundberg
    The Jackson Laboratory, Bar Harbor, ME, USA
    Vet Pathol 53:456-67. 2016
    ..Many of the age-related mouse diseases are similar, if not identical, to human diseases; therefore, the genetic discoveries have direct translational benefit. ..
  24. pmc Analysis of ocular hypopigmentation in Rab38cht/cht mice
    Brian P Brooks
    National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Invest Ophthalmol Vis Sci 48:3905-13. 2007
    ..To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome...
  25. ncbi request reprint Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases
    Yongsuk Lee
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Mol Cell Neurosci 30:160-72. 2005
    ..Finally, hypoglycosylation of alpha-dystroglycan previously implicated in muscle and brain defects is also observed in the retina and may contribute to the ocular abnormalities...
  26. ncbi request reprint Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration
    Richard T Libby
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Vis Neurosci 22:637-48. 2005
    ..This information should help with the design of experiments, and we present the data in a manner that will be useful for future studies of retinal ganglion cell degeneration and optic neuropathy...
  27. ncbi request reprint Deficiency of SHP-1 protein-tyrosine phosphatase in "viable motheaten" mice results in retinal degeneration
    Bonnie L Lyons
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Invest Ophthalmol Vis Sci 47:1201-9. 2006
    ..These mice exhibit immune dysfunction, hyperproliferation of myeloid cells, and regenerative anemia. This study focused on the role of SHP-1 in retinal homeostasis...
  28. pmc Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma
    Gareth R Howell
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    J Cell Biol 179:1523-37. 2007
    ..These experiments provide strong evidence for a local insult to axons in the optic nerve...
  29. pmc Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma
    Douglas B Gould
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Mol Cell Biol 26:8427-36. 2006
    ..These data suggest that production, apparent misfolding, and nonsecretion of mutant MYOC are not, by themselves, sufficient to cause glaucoma in vivo...
  30. ncbi request reprint The transcription factor Nr2e3 functions in retinal progenitors to suppress cone cell generation
    Neena B Haider
    Department of Genetics, University of Nebraska Medical Center, Omaha, Nebraska 68198, USA
    Vis Neurosci 23:917-29. 2006
    ..NR2E3 is thus one of the few genes known to influence the competency of retinal progenitors while simultaneously directing the rod and cone differentiation...
  31. ncbi request reprint Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis
    Douglas B Gould
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Hum Mol Genet 16:798-807. 2007
    ..In a different genetic context, both the ASD and optic nerve hypoplasia are rescued, and we have identified a single dominant locus that confers the phenotypic modification...
  32. pmc Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1
    Gareth R Howell
    The Jackson Laboratory, Bar Harbor, Maine, USA
    BMC Genet 8:45. 2007
    ..We have shown previously that mutations in two genes, Gpnmb and Tyrp1, initiate the iris disease. However, mechanisms involved in the subsequent IOP elevation and optic nerve degeneration remain unclear...
  33. pmc Inducible nitric oxide synthase, Nos2, does not mediate optic neuropathy and retinopathy in the DBA/2J glaucoma model
    Richard T Libby
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    BMC Neurosci 8:108. 2007
    ..To test the importance of NOS2 for an inherited glaucoma, in this study we both genetically and pharmacologically decreased NOS2 activity in the DBA/2J mouse glaucoma model...
  34. pmc Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent
    Kelly A Young
    Department of Biochemistry and Molecular Biology, Johns Hopkins School of Public Health, Baltimore, MD 21205, USA
    Behav Brain Res 132:145-58. 2002
    ..In addition, the background-dependent differences revealed will enable the identification of important genetic modifiers...
  35. ncbi request reprint Modification of ocular defects in mouse developmental glaucoma models by tyrosinase
    Richard T Libby
    Jackson Laboratory, Bar Harbor, ME 04609, USA
    Science 299:1578-81. 2003
    ..These experiments raise the possibility that a tyrosinase/l-dopa pathway modifies human PCG, which could open new therapeutic avenues...
  36. ncbi request reprint Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice
    Michael G Anderson
    The Howard Hughes Medical Institute, Bar Harbor, Maine 04609, USA
    Nat Genet 30:81-5. 2002
    ..The fact that hypopigmentation profoundly alleviates the D2 disease indicates that therapeutic strategies designed to decrease pigment production may be beneficial in human pigmentary glaucoma...
  37. pmc By altering ocular immune privilege, bone marrow-derived cells pathogenically contribute to DBA/2J pigmentary glaucoma
    Jun Song Mo
    The Howard Hughes Medical Institute, The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    J Exp Med 197:1335-44. 2003
    ..These results suggest previously unsuspected roles for bone marrow-derived cells and ocular immune privilege in the pathogenesis of PG...
  38. ncbi request reprint CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
    Adrienne K Mehalow
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Hum Mol Genet 12:2179-89. 2003
    ..The Crb1rd8 mouse model will facilitate the analysis of Crb1 function in the neural retina and the identification of interacting factors as candidate retinal disease genes...
  39. pmc Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma
    Douglas B Gould
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Mol Cell Biol 24:9019-25. 2004
    ..This work does not support a causative role for increased MYOC levels or the MYOC gene in steroid-induced glaucoma...
  40. ncbi request reprint Intraocular pressure in zebrafish: comparison of inbred strains and identification of a reduced melanin mutant with raised IOP
    Brian A Link
    Department of Cell Biology, Neurobiology, and Anatomy, Medical College of Wisconsin, Milwaukee, WI 53226, USA
    Invest Ophthalmol Vis Sci 45:4415-22. 2004
    ..Because albino mammals have increased IOP and are prone to anterior segment anomalies, the study was focused on a reduced melanin zebrafish mutant, brass...
  41. ncbi request reprint Anterior segment development relevant to glaucoma
    Douglas B Gould
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Int J Dev Biol 48:1015-29. 2004
    ....
  42. pmc High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma
    Michael G Anderson
    The Jackson Laboratory, Bar Harbor, ME 04609, USA
    Proc Natl Acad Sci U S A 102:4566-71. 2005
    ..Because of the robust protective effect, this treatment offers another tool for studying mechanisms of neuroprotection...
  43. pmc Defects in actin dynamics lead to an autoinflammatory condition through the upregulation of CXCL5
    Angela M Verdoni
    Department of Medical Genetics, University of Wisconsin Madison, Madison, Wisconsin, United States of America
    PLoS ONE 3:e2701. 2008
    ..In this study, we sought to characterize this inflammatory condition and explore the physiological mechanism through which a loss of Dstn function leads to inflammation...
  44. ncbi request reprint Intraocular teratoma in a mouse
    Richard S Smith
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Comp Med 52:68-72. 2002
    ..Many normal intraocular structures were absent. To our knowledge, this represents the first reported intraocular teratoma in a mouse...
  45. pmc Cataracts in transgenic mice caused by a human papillomavirus type 18 E7 oncogene driven by KRT1-14
    Shinje Ghim
    John Graham Brown Cancer Center, University of Louisville, Louisville, KY, USA
    Exp Mol Pathol 85:77-82. 2008
    ..These cells were hyperplastic not neoplastic. Other HPV transgenic stocks develop cataracts suggesting this virus may have a broad cellular tropism...
  46. pmc Spontaneous corneal hem- and lymphangiogenesis in mice with destrin-mutation depend on VEGFR3 signaling
    Claus Cursiefen
    Department of Ophthalmology, Friedrich Alexander University Erlangen Nurnberg, Schwabachanlage 6, 91054 Erlangen, Germany
    Am J Pathol 166:1367-77. 2005
    ....
  47. ncbi request reprint Comment on 'characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract' by J.C. Graw et al., Experimental Eye Research, Vol. 73 (2001) pp 867-876
    Richard S Smith
    Exp Eye Res 75:237; author reply 239. 2002
  48. ncbi request reprint Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor)
    Sakae Ikeda
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Hum Mol Genet 12:1029-37. 2003
    ..Our results suggest an in vivo connection between remodeling of the actin cytoskeleton and the control of cell proliferation, and a new pathway through which an aberrant actin cytoskeleton can cause epithelial hyperproliferation...
  49. ncbi request reprint A closer look: secondary glaucoma more likely
    Kelli Boyd
    Lab Anim (NY) 36:13-4; discussion 14. 2007
  50. ncbi request reprint Identification of polymorphisms in the human glucocorticoid receptor gene (NR3C1) in a multi-racial asthma case and control screening panel
    Gregory A Hawkins
    Wake Forest University School of Medicine, Medical Center Blvd, Winston Salem, NC 27157, USA
    DNA Seq 15:167-73. 2004
    ..This data shows the variability of NR3C1 polymorphism frequencies between racial groups and confirms that NR3C1 non-synonymous coding polymorphisms are generally rare in mild/moderate asthmatics and unaffected controls...
  51. ncbi request reprint Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly
    Douglas B Gould
    Howard Hughes Medical Institute, Bar Harbor, ME 04609, USA
    Science 308:1167-71. 2005
    ..We also show that COL4A1 mutations segregate with porencephaly in human families. Because not all mutant mice develop porencephaly, we propose that Col4a1 mutations conspire with environmental trauma in causing the disease...
  52. ncbi request reprint A mouse TRAPP-related protein is involved in pigmentation
    Babette Gwynn
    The Jackson Laboratory, 600 Main Street, Bar Harbor, ME 04609, USA
    Genomics 88:196-203. 2006
    ..The data implicate mammalian TRAPPC6A in vesicle trafficking during melanosome biogenesis...