Stephanie A Hagstrom

Summary

Affiliation: Cleveland Clinic Foundation
Country: USA

Publications

  1. pmc Pharmacogenetics for genes associated with age-related macular degeneration in the Comparison of AMD Treatments Trials (CATT)
    Stephanie A Hagstrom
    Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Ophthalmology 120:593-9. 2013
  2. ncbi request reprint 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
  3. doi request reprint 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
  4. pmc 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
  5. doi request reprint 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
  6. pmc 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
  7. doi request reprint Identification of three ABCA4 sequence variations exclusive to African American patients in a cohort of patients with Stargardt disease
    Virginia Miraldi Utz
    Cole Eye Institute, Cleveland, Ohio
    Am J Ophthalmol 156:1220-1227.e2. 2013
  8. pmc 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
  9. ncbi request reprint Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease
    Virginia Miraldi Utz
    Abrahamson Eye Institute, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Br J Ophthalmol 98:513-8. 2014
  10. ncbi request reprint Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion
    Virginia M Utz
    Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA, and
    Ophthalmic Genet 34:183-8. 2013

Research Grants

  1. The Role of TULP1 in Photoreceptor Cells
    Stephanie Hagstrom; Fiscal Year: 2006
  2. The Role of TULP1 in Photoreceptor Cells
    Stephanie Hagstrom; Fiscal Year: 2007
  3. The Role of TULP1 in Photoreceptor Cells
    Stephanie Hagstrom; Fiscal Year: 2009

Collaborators

Detail Information

Publications22

  1. pmc Pharmacogenetics for genes associated with age-related macular degeneration in the Comparison of AMD Treatments Trials (CATT)
    Stephanie A Hagstrom
    Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, USA
    Ophthalmology 120:593-9. 2013
    ....
  2. ncbi request reprint 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
    ....
  3. doi request reprint 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...
  4. pmc 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...
  5. doi request reprint 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...
  6. pmc 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...
  7. doi request reprint Identification of three ABCA4 sequence variations exclusive to African American patients in a cohort of patients with Stargardt disease
    Virginia Miraldi Utz
    Cole Eye Institute, Cleveland, Ohio
    Am J Ophthalmol 156:1220-1227.e2. 2013
    ..To describe the clinical and molecular findings in ten unrelated African American patients with Stargardt disease...
  8. pmc 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..
  9. ncbi request reprint Predictors of visual acuity and genotype-phenotype correlates in a cohort of patients with Stargardt disease
    Virginia Miraldi Utz
    Abrahamson Eye Institute, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio, USA
    Br J Ophthalmol 98:513-8. 2014
    ..To assess the genotypic diversity in patients with Stargardt disease and to characterise epidemiological and genotypic predictors of phenotype...
  10. ncbi request reprint Autosomal dominant retinitis pigmentosa secondary to pre-mRNA splicing-factor gene PRPF31 (RP11): review of disease mechanism and report of a family with a novel 3-base pair insertion
    Virginia M Utz
    Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA, and
    Ophthalmic Genet 34:183-8. 2013
    ..The molecular and clinical features of a family with a novel 3-base insertion, c.914_915insTGT (p.Val305_Asp306insVal) in exon 9 of PRPF31 are described to illustrate the salient clinical features of mutations in this gene...
  11. pmc 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...
  12. pmc Protein partners of dynamin-1 in the retina
    Gregory H Grossman
    Department of Ophthalmic Research, Cleveland Clinic Cole Eye Institute, Cleveland, Ohio
    Vis Neurosci 30:129-39. 2013
    ..This finding is confirmed by western blot analysis. Results further implicate dynamin-1 in vesicular protein transport processes relevant to synaptic and post-Golgi pathways and indicate a possible role in photoreceptor stability...
  13. pmc 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...
  14. doi request reprint 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...
  15. pmc 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...
  16. pmc A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration
    Theru A Sivakumaran
    Department of Epidemiology and Biostatistics, Case Western Reserve University, Cleveland, Ohio, United States of America
    PLoS ONE 6:e25598. 2011
    ..We conclude that causal variation in this region potentially encompasses both regulatory effects at single markers and copy number...
  17. pmc 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...
  18. ncbi request reprint Interaction of tubby-like protein-1 (Tulp1) and microtubule-associated protein (MAP) 1A and MAP1B in the mouse retina
    Gregory H Grossman
    Department of Ophthalmic Research, Cole Eye Institute, Cleveland Clinic, Cleveland, OH, USA
    Adv Exp Med Biol 801:511-8. 2014
    ..This may be the cause for disorganized OSs in tulp1-/- mice, and indicate that their transport to the OS is Tulp1-dependent. ..
  19. pmc Retinal deimination and PAD2 levels in retinas from donors with age-related macular degeneration (AMD)
    Vera L Bonilha
    Department of Ophthalmology, The Cole Eye Institute i31, Cleveland Clinic Lerner College of Medicine, 9500 Euclid Avenue, Cleveland, OH 44195, USA
    Exp Eye Res 111:71-8. 2013
    ..Our observations show increased levels of protein deimination but not PAD2 in AMD retinas and RPE, suggesting a reduced rate of turnover of deiminated proteins in these AMD retinas...
  20. pmc 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...
  21. pmc 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)...
  22. ncbi request reprint 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: 2006
    ..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: 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. ..
  3. 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. ..