Stephanie A Hagstrom

Summary

Affiliation: Cleveland Clinic Foundation
Country: USA

Publications

  1. ncbi SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies
    Stephanie A Hagstrom
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Am J Med Genet A 138:95-8. 2005
  2. ncbi Proteomic and genomic biomarkers for age-related macular degeneration
    Jiayin Gu
    Cole Eye Institute, Cleveland, OH, USA
    Adv Exp Med Biol 664:411-7. 2010
  3. ncbi Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration
    Gayle J T Pauer
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Am J Ophthalmol 149:513-22. 2010
  4. ncbi Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration
    Gwen M Sturgill
    Louis Stokes Cleveland Department of Veterans Affairs Medical Center, Cleveland, Ohio, USA
    Ophthalmic Genet 31:129-34. 2010
  5. ncbi Early synaptic defects in tulp1-/- mice
    Gregory H Grossman
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Invest Ophthalmol Vis Sci 50:3074-83. 2009
  6. ncbi Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers
    Jiayin Gu
    Cole Eye Institute, Lerner Research Inst, Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH 44195, USA
    Mol Cell Proteomics 8:1338-49. 2009
  7. ncbi Interaction between the photoreceptor-specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1
    Quansheng Xi
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Invest Ophthalmol Vis Sci 48:2837-44. 2007
  8. ncbi Tubby-like protein 1 (Tulp1) is required for normal photoreceptor synaptic development
    Gregory H Grossman
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Adv Exp Med Biol 664:89-96. 2010
  9. ncbi Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis
    Quansheng Xi
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    Exp Eye Res 83:569-73. 2006
  10. ncbi Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma
    Nikolas J S London
    Case Western Reserve University School of Medicine, Cleveland, OH, USA
    Mol Vis 15:162-7. 2009

Research Grants

  1. The Role of TULP1 in Photoreceptor Cells
    Stephanie Hagstrom; Fiscal Year: 2007
  2. The Role of TULP1 in Photoreceptor Cells
    Stephanie Hagstrom; Fiscal Year: 2009

Collaborators

  • Elias I Traboulsi
  • Hilel Lewis
  • Kang Zhang
  • Bennie H Jeng
  • Steven E Wilson
  • Ronald R Krueger
  • Gayle J T Pauer
  • Neal S Peachey
  • Gwen M Sturgill
  • Gregory H Grossman
  • Umadevi Narendra
  • Quansheng Xi
  • Jiayin Gu
  • Elisa Bala
  • Stacia S Yaniglos
  • John W Crabb
  • Ellen Simpson
  • Joe G Hollyfield
  • James Bena
  • Scott D Smith
  • Xiuzhen Yue
  • Xiaorong Gu
  • Robert G Salomon
  • Sue Crowe
  • Gregory S Kosmorsky
  • Peter K Kaiser
  • Andrew P Schachat
  • Jonathan E Sears
  • Roger H S Langston
  • Nikolas J S London
  • Rao F Watson
  • Kathryn Bollinger
  • Arun Singh
  • Patricia Kessler
  • Mindy Toabe
  • Edward J Rockwood
  • Froncie A Gutman
  • Bela Anand-Apte
  • Nadia Waheed
  • Sonya Bamba
  • Ann Laurenzi
  • Tiffany Ruez
  • Bryan Williams
  • Patrice Nerone
  • William E Sax
  • David Barnhart
  • Gayle J Pauer
  • Richard E Gans
  • William J Dupps
  • Rishi Singh
  • Sherry L Ball
  • Mary Rayborn

Detail Information

Publications14

  1. ncbi SOX2 mutation causes anophthalmia, hearing loss, and brain anomalies
    Stephanie A Hagstrom
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Am J Med Genet A 138:95-8. 2005
    ....
  2. ncbi Proteomic and genomic biomarkers for age-related macular degeneration
    Jiayin Gu
    Cole Eye Institute, Cleveland, OH, USA
    Adv Exp Med Biol 664:411-7. 2010
    ..CEP plasma biomarkers, particularly in combination with genomic markers, offer a potential early warning system for predicting susceptibility to this blinding disease...
  3. ncbi Protective effect of paraoxonase 1 gene variant Gln192Arg in age-related macular degeneration
    Gayle J T Pauer
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio 44195, USA
    Am J Ophthalmol 149:513-22. 2010
    ..Paraoxonase 1 (PON1) protects against oxidative damage and has been evaluated for its involvement in aging diseases including AMD. This study investigated whether PON1 gene polymorphisms associate with AMD...
  4. ncbi Mutation screen of beta-crystallin genes in 274 patients with age-related macular degeneration
    Gwen M Sturgill
    Louis Stokes Cleveland Department of Veterans Affairs Medical Center, Cleveland, Ohio, USA
    Ophthalmic Genet 31:129-34. 2010
    ..We therefore investigated CRYBB1 and CRYBB2 as candidate genes for AMD in 274 unrelated patients...
  5. ncbi Early synaptic defects in tulp1-/- mice
    Gregory H Grossman
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Invest Ophthalmol Vis Sci 50:3074-83. 2009
    ..To investigate the role of Tulp1 in the photoreceptor synapse, the authors examined the presynaptic and postsynaptic architecture and retinal function in tulp1(-/-) mice..
  6. ncbi Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers
    Jiayin Gu
    Cole Eye Institute, Lerner Research Inst, Cleveland Clinic Foundation, 9500 Euclid Ave, Cleveland, OH 44195, USA
    Mol Cell Proteomics 8:1338-49. 2009
    ..We conclude that CEP plasma biomarkers, particularly in combination with genomic markers, offer a potential early warning system for assessing susceptibility to this blinding, multifactorial disease...
  7. ncbi Interaction between the photoreceptor-specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1
    Quansheng Xi
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44195, USA
    Invest Ophthalmol Vis Sci 48:2837-44. 2007
    ..To investigate the function of TULP1 in maintaining the health of photoreceptors, the authors sought the identification of interacting proteins...
  8. ncbi Tubby-like protein 1 (Tulp1) is required for normal photoreceptor synaptic development
    Gregory H Grossman
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH 44195, USA
    Adv Exp Med Biol 664:89-96. 2010
    ..Our new evidence indicates that Tulp1 is not only critical for photoreceptor function and survival, but is essential for the proper development of the photoreceptor synapse...
  9. ncbi Mutation screen of the TUB gene in patients with retinitis pigmentosa and Leber congenital amaurosis
    Quansheng Xi
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    Exp Eye Res 83:569-73. 2006
    ..Although variant alleles of the TUB gene were found, none could be definitively associated with a specific retinal disease...
  10. ncbi Sequence alterations in RX in patients with microphthalmia, anophthalmia, and coloboma
    Nikolas J S London
    Case Western Reserve University School of Medicine, Cleveland, OH, USA
    Mol Vis 15:162-7. 2009
    ..We screened a group of 24 patients with microphthalmia, coloboma, and/or anophthalmia for RX mutations...
  11. ncbi Mutation screen of the cone-specific gene, CLUL1, in 376 patients with age-related macular degeneration
    Gwen M Sturgill
    Louis Stokes Cleveland Department of Veterans Affairs Medical Center, Cleveland, OH, USA
    Ophthalmic Genet 27:151-5. 2006
    ..Variant alleles of the CLUL1 gene were found; however, none are considered pathogenic. None of the variants identified are predicted to create or destroy splice donor or acceptor sites based on splice-site prediction software...
  12. ncbi Immunocytochemical evidence of Tulp1-dependent outer segment protein transport pathways in photoreceptor cells
    Gregory H Grossman
    Department of Ophthalmic Research, i31, Cole Eye Institute, Cleveland Clinic, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    Exp Eye Res 93:658-68. 2011
    ..However, without Tulp1, two rhodopsin transport machinery proteins exhibit abnormal distribution, Rab8 and Rab11, suggesting a role for Tulp1 in vesicular docking and fusion at the plasma membrane near the connecting cilium...
  13. ncbi Genetic analysis of complement factor H related 5, CFHR5, in patients with age-related macular degeneration
    Umadevi Narendra
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Mol Vis 15:731-6. 2009
    ..To investigate the complement factor H related 5 (CFHR5) gene, encoding a member of the complement factor H family, for the presence of genetic polymorphisms or mutations associated with age-related macular degeneration (AMD)...
  14. ncbi Mutation screen of the membrane-type frizzled-related protein (MFRP) gene in patients with inherited retinal degenerations
    Gayle J T Pauer
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH 44195, USA
    Ophthalmic Genet 26:157-61. 2005
    ..We identified five polymorphisms in the 5' untranslated region, four missense changes, six isocoding variants and four intronic changes. None of the sequence variants were interpreted as pathogenic...

Research Grants4

  1. The Role of TULP1 in Photoreceptor Cells
    Stephanie Hagstrom; Fiscal Year: 2007
    ..It is possible that this work could form the foundation for future studies aimed at evaluating therapeutic modalities that might slow, stop, or reverse the course of retinal degeneration. ..
  2. The Role of TULP1 in Photoreceptor Cells
    Stephanie Hagstrom; Fiscal Year: 2009
    ..It is possible that this work could form the foundation for future studies aimed at evaluating therapeutic modalities that might slow, stop, or reverse the course of retinal degeneration. ..