A H Milam

Summary

Affiliation: University of Pennsylvania
Country: USA

Publications

  1. pmc The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration
    Ann H Milam
    Scheie Eye Institute and F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 99:473-8. 2002
  2. ncbi Localization of tubby-like protein 1 in developing and adult human retinas
    A H Milam
    Scheie Eye Institute, University of Pennsylvania, Philadelphia 19104, USA
    Invest Ophthalmol Vis Sci 41:2352-6. 2000
  3. ncbi Concentric retinitis pigmentosa: clinicopathologic correlations
    A H Milam
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Exp Eye Res 73:493-508. 2001
  4. ncbi Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa
    S K John
    Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 6:204-15. 2000
  5. ncbi Proapoptotic bcl-2 family members, Bax and Bak, are essential for developmental photoreceptor apoptosis
    Paul Hahn
    F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 44:3598-605. 2003
  6. ncbi Molecular cloning and localization of rhodopsin kinase in the mammalian pineal
    X Zhao
    Department of Ophthalmology, University of Washington, Seattle 98195 6485, USA
    Vis Neurosci 14:225-32. 1997
  7. ncbi Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors
    P K Swain
    Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan 48105, USA
    J Biol Chem 276:36824-30. 2001
  8. ncbi Cellular retinaldehyde-binding protein is expressed by oligodendrocytes in optic nerve and brain
    J C Saari
    Department of Ophthalmology, School of Medicine, University of Washington, Seattle 98195 6485, USA
    Glia 21:259-68. 1997
  9. ncbi Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease
    T Bensaoula
    Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Ophthalmology 107:1746-53. 2000
  10. ncbi Localization of pigment epithelium derived factor (PEDF) in developing and adult human ocular tissues
    P C Karakousis
    F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 7:154-63. 2001

Collaborators

Detail Information

Publications37

  1. pmc The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration
    Ann H Milam
    Scheie Eye Institute and F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 99:473-8. 2002
    ..Degeneration of the NR2E3 retina may result from defective development, known S cone fragility, or abnormal maintenance of mature photoreceptors...
  2. ncbi Localization of tubby-like protein 1 in developing and adult human retinas
    A H Milam
    Scheie Eye Institute, University of Pennsylvania, Philadelphia 19104, USA
    Invest Ophthalmol Vis Sci 41:2352-6. 2000
    ..To localize tubby-like protein 1 (TULP1) in developing and adult human retinas...
  3. ncbi Concentric retinitis pigmentosa: clinicopathologic correlations
    A H Milam
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Exp Eye Res 73:493-508. 2001
    ..Peripheral to central gradients of unknown retinal molecule(s) may be defective or modify photoreceptor degeneration in concentric retinitis pigmentosa...
  4. ncbi Loss of cone molecular markers in rhodopsin-mutant human retinas with retinitis pigmentosa
    S K John
    Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 6:204-15. 2000
    ..To examine the effect of rhodopsin mutations on cone photoreceptors in human retinas with retinitis pigmentosa (RP)...
  5. ncbi Proapoptotic bcl-2 family members, Bax and Bak, are essential for developmental photoreceptor apoptosis
    Paul Hahn
    F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Philadelphia, Pennsylvania, USA
    Invest Ophthalmol Vis Sci 44:3598-605. 2003
    ..The purpose of this study was to characterize the roles in retinal development of the proapoptotic Bcl-2 family members Bax and Bak...
  6. ncbi Molecular cloning and localization of rhodopsin kinase in the mammalian pineal
    X Zhao
    Department of Ophthalmology, University of Washington, Seattle 98195 6485, USA
    Vis Neurosci 14:225-32. 1997
    ..These findings correlate with an earlier report that neonatal rats show extraretinal light sensitivity, and suggest that a functional photoreceptive system may be present in the adult mammalian pineal...
  7. ncbi Multiple phosphorylated isoforms of NRL are expressed in rod photoreceptors
    P K Swain
    Department of Ophthalmology, University of Michigan, Ann Arbor, Michigan 48105, USA
    J Biol Chem 276:36824-30. 2001
    ..We propose that NRL regulates rod photoreceptor-specific gene expression and is involved in rod differentiation...
  8. ncbi Cellular retinaldehyde-binding protein is expressed by oligodendrocytes in optic nerve and brain
    J C Saari
    Department of Ophthalmology, School of Medicine, University of Washington, Seattle 98195 6485, USA
    Glia 21:259-68. 1997
    ..No endogenous retinoids were associated with CRALBP isolated from dark-dissected adult bovine brain. The results suggest that CRALBP has functions in addition to retinoid metabolism and visual pigment regeneration...
  9. ncbi Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease
    T Bensaoula
    Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Ophthalmology 107:1746-53. 2000
    ..To describe the pathophysiologic features of retinal degeneration in Batten disease (juvenile neuronal ceroid lipofuscinosis [JNCL]) caused by mutations in the CLN3 gene...
  10. ncbi Localization of pigment epithelium derived factor (PEDF) in developing and adult human ocular tissues
    P C Karakousis
    F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Mol Vis 7:154-63. 2001
    ..To localize pigment epithelium-derived factor (PEDF) in developing and adult human ocular tissues...
  11. ncbi Evaluation of retinal photoreceptors and pigment epithelium in a female carrier of choroideremia
    N Syed
    Scheie Eye Institute, University of Pennsylvania, 51 North 39th Street, Philadelphia, PA 19104, USA
    Ophthalmology 108:711-20. 2001
    ..To clarify the pathogenesis of choroideremia...
  12. ncbi Clinicopathologic effects of mutant GUCY2D in Leber congenital amaurosis
    Ann H Milam
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania School of Medicine, 51 North 39th Street, Philadelphia, PA 19104, USA
    Ophthalmology 110:549-58. 2003
    ..To study the retinal degeneration in an 11 -year-old patient with Leber congenital amaurosis (LCA) caused by mutation in GUCY2D...
  13. ncbi Abnormal cone synapses in human cone-rod dystrophy
    K Gregory Evans
    Department of Ophthalmology, University of Washington, Seattle, USA
    Ophthalmology 105:2306-12. 1998
    ..To our knowledge, comparable synapse changes have not been noted in either rods or cones in other forms of retinal dystrophy, including retinitis pigmentosa, suggesting that different cytopathologic mechanisms may be involved...
  14. pmc Disease sequence from mutant rhodopsin allele to rod and cone photoreceptor degeneration in man
    A V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 95:7103-8. 1998
    ..Class A mutant alleles behave as if cytotoxic; class B mutants can be relatively innocuous and epigenetic factors may play a major role in the retinal degeneration...
  15. ncbi Histopathology of the human retina in retinitis pigmentosa
    A H Milam
    Department of Ophthalmology, University of Washington, Seattle 98195 6485, USA
    Prog Retin Eye Res 17:175-205. 1998
    ....
  16. ncbi Histopathologic study of X-linked cone-rod dystrophy (CORDX1) caused by a mutation in the RPGR exon ORF15
    F Yesim K Demirci
    Department of Ophthalmology, UPMC Eye Center, School of Medicine, University of Pittsburgh, Pittsburgh, PA 15213, USA
    Am J Ophthalmol 139:386-8. 2005
    ..To evaluate the donor retina of a patient with X-linked cone-rod dystrophy caused by an RPGR exon ORF15 mutation...
  17. pmc Localization of guanylate cyclase-activating protein 2 in mammalian retinas
    A Otto-Bruc
    Department of Ophthalmology, School of Medicine, University of Washington, Seattle, WA 98195, USA
    Proc Natl Acad Sci U S A 94:4727-32. 1997
    ..These results suggest that although GCAP1 is involved in the Ca2+-sensitive regulation of GC in rod and cone outer segments, GCAP2 may have non-phototransduction functions in photoreceptors and inner retinal neurons...
  18. ncbi Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
    Samuel G Jacobson
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 12:1073-8. 2003
    ..The results suggest that the CRB1 disease pathway disturbs the development of normal human retinal organization by interrupting naturally occurring apoptosis...
  19. pmc ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina
    Artur V Cideciyan
    Scheie Eye Institute, Department of Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 46:4739-46. 2005
    ..To study the parapapillary retinal region in patients with ABCA4-associated retinal degenerations...
  20. ncbi The role of apoptosis in age-related macular degeneration
    Joshua L Dunaief
    305 Stellar Chance Labs, University of Pennsylvania, Philadelphia, PA 19104, USA
    Arch Ophthalmol 120:1435-42. 2002
    ..To investigate apoptosis in human age-related macular degeneration (AMD)...
  21. ncbi Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3
    Artur V Cideciyan
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 44:1268-74. 2003
    ..To determine the relationship between cone deactivation kinetics in patients with the enhanced S cone syndrome (ESCS) caused by mutations in NR2E3 and the immunoreactivity to G-protein-coupled receptor kinase 1 (GRK1) and GRK7...
  22. pmc Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success
    Samuel G Jacobson
    Department of Ophthalmology, University of Pennsylvania, Philadelphia, PA 19104, USA
    Proc Natl Acad Sci U S A 102:6177-82. 2005
    ....
  23. pmc Identification and subcellular localization of the RP1 protein in human and mouse photoreceptors
    Qin Liu
    F M Kirby Center for Molecular Ophthalmology, University of Pennsylvania, Philadelphia, Pennsylvania 19104, USA
    Invest Ophthalmol Vis Sci 43:22-32. 2002
    ..So far, little is known about the RP1 protein or how mutations in RP1 lead to photoreceptor cell death. The goal of this study was to identify the RP1 protein and investigate its location in photoreceptor cells...
  24. ncbi Activated microglia in human retinitis pigmentosa, late-onset retinal degeneration, and age-related macular degeneration
    Nisha Gupta
    Scheie Eye Institute, 51 North 39th Street, Philadelphia, PA 19104, USA
    Exp Eye Res 76:463-71. 2003
    ..Activated microglia may be a missing link in understanding why initial rod cell death in the human diseases RP, L-ORD, and AMD leads to death of the cones that are critical for high acuity daytime vision...
  25. pmc Nicotinic acetylcholine receptor subunits in rhesus monkey retina
    Ji Liu
    Department of Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, Pennsylvania 19104 6075, USA
    Invest Ophthalmol Vis Sci 50:1408-15. 2009
    ..The purpose of this study was to detect and establish the cellular localizations of nicotinic acetylcholine receptor (nAChR) subunits in Rhesus monkey retina...
  26. ncbi Amyloid-beta is found in drusen from some age-related macular degeneration retinas, but not in drusen from normal retinas
    Tzvete Dentchev
    F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, Philadelphia, PA, USA
    Mol Vis 9:184-90. 2003
    ..The goal of this study was to characterize the distribution and frequency of Abeta deposits in drusen from AMD and normal post mortem human retinas to gain additional insight about the potential role of Abeta in AMD patho genesis...
  27. ncbi Characterization and localization of an aldehyde dehydrogenase to amacrine cells of bovine retina
    J C Saari
    Department of Ophthalmology, University of Washington, Seattle 98195, USA
    Vis Neurosci 12:263-72. 1995
    ..The results provide further evidence for metabolism and function of retinoids within cells of the inner retina and define a novel class of retinal amacrine cells...
  28. ncbi Rod photoreceptor neurite sprouting in retinitis pigmentosa
    Z Y Li
    Department of Ophthalmology, University of Washington, Seattle 98195, USA
    J Neurosci 15:5429-38. 1995
    ..The contributions of the rhodopsin-positive rod neurites and abnormal cone axons to the functional abnormalities observed in RP are unknown...
  29. ncbi Maculas affected by age-related macular degeneration contain increased chelatable iron in the retinal pigment epithelium and Bruch's membrane
    Paul Hahn
    F M Kirby Center for Molecular Ophthalmology, Scheie Eye Institute, University of Pennsylvania, Philadelphia, PA 19104, USA
    Arch Ophthalmol 121:1099-105. 2003
    ..To investigate whether iron is involved in the pathogenesis of age-related macular degeneration (AMD)...
  30. ncbi Retinal remodeling triggered by photoreceptor degenerations
    Bryan W Jones
    John A Moran Eye Center, University of Utah School of Medicine, Salt Lake City, Utah 84132
    J Comp Neurol 464:1-16. 2003
    ..Although remodeling may constrain therapeutic intervals for molecular, cellular, or bionic rescue, it suggests that the neural retina may be more plastic than previously believed...
  31. ncbi Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2
    Bo Chang
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Invest Ophthalmol Vis Sci 47:5017-21. 2006
    ..To report a novel mouse model of achromatopsia with a cpfl3 mutation found in the ALS/LtJ strain...
  32. ncbi Cone damage in patients receiving high-dose irofulven treatment
    Michael S Lee
    Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, Ohio 44124, USA
    Arch Ophthalmol 123:29-34. 2005
    ..To describe the clinical, perimetric, and electroretinographic (ERG) results of 4 patients with cone dysfunction following irofulven treatment including the histopathologic and immunocytochemical features of one patient's retinas...
  33. ncbi Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration
    Caroline Hayward
    MRC Human Genetics Unit, Western General Hospital, Edinburgh, UK
    Hum Mol Genet 12:2657-67. 2003
    ..These results indicate a novel disease mechanism involving abnormal adhesion between RPE and Bruch's membrane...
  34. ncbi Retinal histopathology of an XLRP carrier with a mutation in the RPGR exon ORF15
    Gustavo D Aguirre
    James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA
    Exp Eye Res 75:431-43. 2002
    ....
  35. ncbi Electroretinographic and clinicopathologic correlations of retinal dysfunction in infantile neuronal ceroid lipofuscinosis (infantile Batten disease)
    Richard G Weleber
    Casey Eye Institute and Department of Ophthalmology, Oregon Health and Science University, Portland, OR, USA
    Mol Genet Metab 83:128-37. 2004
    ..The ERG findings support the existence early in the disease of a relative pre- or post-synaptic block of effective neurotransmission from photoreceptor inner segments to the second order bipolar neurons...
  36. ncbi Nature of the cone ON-pathway dysfunction in melanoma-associated retinopathy
    Kenneth R Alexander
    Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois 60612, USA
    Invest Ophthalmol Vis Sci 43:1189-97. 2002
    ..To establish the basis for an ON-pathway abnormality of the cone system in melanoma-associated retinopathy (MAR) through analysis of the electroretinogram (ERG) and visual evoked potential (VEP)...
  37. ncbi Phosphotyrosine - a novel marker for H1 horizontal cells in normal human retinas
    Nisha Gupta
    Exp Eye Res 75:233-5. 2002