Margaret M DeAngelis

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration
    Margaret M DeAngelis
    Ocular Molecular Genetics Institute, Harvard Medical School, Boston, MA 02114, USA
    Arch Ophthalmol 122:575-80. 2004
  2. ncbi Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
    Carlo Rivolta
    Ocular Molecular Genetics Institute, Harvard Medical School and Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Hum Mol Genet 11:1219-27. 2002
  3. ncbi Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration
    Margaret M DeAngelis
    Department of Ophthalmology, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, USA
    Arch Ophthalmol 125:49-54. 2007
  4. pmc Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration
    Ivana K Kim
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Mol Vis 14:1487-95. 2008
  5. ncbi Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration
    Margaret M DeAngelis
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Ophthalmology 115:1209-1215.e7. 2008
  6. pmc Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration
    Michael T Andreoli
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Am J Ophthalmol 148:869-74. 2009
  7. pmc Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics
    Michael Feehan
    Ocular Molecular Genetics Institute and the Retina Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    BMC Med Genet 12:83. 2011
  8. pmc Prospective study of common variants in the retinoic acid receptor-related orphan receptor α gene and risk of neovascular age-related macular degeneration
    Debra A Schaumberg
    Division of Preventive Medicine, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02215, USA
    Arch Ophthalmol 128:1462-71. 2010
  9. pmc Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration
    Margaux A Morrison
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear, Boston, MA, USA
    Hum Genomics 5:538-68. 2011
  10. pmc The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration
    Hong Zhang
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
    BMC Med Genet 9:51. 2008

Collaborators

Detail Information

Publications21

  1. ncbi Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration
    Margaret M DeAngelis
    Ocular Molecular Genetics Institute, Harvard Medical School, Boston, MA 02114, USA
    Arch Ophthalmol 122:575-80. 2004
    ..To search for factors that contribute to the development of neovascular age-related macular degeneration (AMD)...
  2. ncbi Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
    Carlo Rivolta
    Ocular Molecular Genetics Institute, Harvard Medical School and Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    Hum Mol Genet 11:1219-27. 2002
    ..Special consideration is given to unusual inheritance patterns. The aggregate carrier frequency for recessive RP alleles may be as high as 10%...
  3. ncbi Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration
    Margaret M DeAngelis
    Department of Ophthalmology, Harvard Medical School, and Massachusetts Eye and Ear Infirmary, Boston, USA
    Arch Ophthalmol 125:49-54. 2007
    ....
  4. pmc Comprehensive analysis of CRP, CFH Y402H and environmental risk factors on risk of neovascular age-related macular degeneration
    Ivana K Kim
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA
    Mol Vis 14:1487-95. 2008
    ..Additionally we examined the degree to which CRP common variation was in linkage disequilibrium (LD) within our cohort...
  5. ncbi Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration
    Margaret M DeAngelis
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Ophthalmology 115:1209-1215.e7. 2008
    ....
  6. pmc Comprehensive analysis of complement factor H and LOC387715/ARMS2/HTRA1 variants with respect to phenotype in advanced age-related macular degeneration
    Michael T Andreoli
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Am J Ophthalmol 148:869-74. 2009
    ..To examine the interaction of genotypic variation of 16 single-nucleotide polymorphisms (SNP) in the complement factor H (CFH) and LOC387715/ARMS2/HTRA1 loci with clinical characteristics of age-related macular degeneration (AMD)...
  7. pmc Identifying subtypes of patients with neovascular age-related macular degeneration by genotypic and cardiovascular risk characteristics
    Michael Feehan
    Ocular Molecular Genetics Institute and the Retina Service, Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA 02114, USA
    BMC Med Genet 12:83. 2011
    ..In the present study, we identify patient subtypes or clusters which could represent several different targets for treatment development, based on genetic pathways in AMD and cardiovascular pathology...
  8. pmc Prospective study of common variants in the retinoic acid receptor-related orphan receptor α gene and risk of neovascular age-related macular degeneration
    Debra A Schaumberg
    Division of Preventive Medicine, Department of Medicine, Brigham and Women s Hospital, Boston, MA 02215, USA
    Arch Ophthalmol 128:1462-71. 2010
    ..We aimed to determine if common variants in RORA predict future risk of neovascular AMD...
  9. pmc Systems biology-based analysis implicates a novel role for vitamin D metabolism in the pathogenesis of age-related macular degeneration
    Margaux A Morrison
    Ocular Molecular Genetics Institute, Harvard Medical School, Massachusetts Eye and Ear, Boston, MA, USA
    Hum Genomics 5:538-68. 2011
    ..These data not only extend previous biological studies in the AMD field, but further emphasise common antecedents between several disorders with an inflammatory/immunogenic component such as cardiovascular disease, cancer and AMD...
  10. pmc The NEI/NCBI dbGAP database: genotypes and haplotypes that may specifically predispose to risk of neovascular age-related macular degeneration
    Hong Zhang
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
    BMC Med Genet 9:51. 2008
    ..Conditional logistic regression was used to determine significant gene-gene interactions. LRT was used to determine the best fit for each genotypic model tested (additive, dominant or recessive)...
  11. ncbi Genetics of age-related macular degeneration: current concepts, future directions
    Margaret M DeAngelis
    Ocular Molecular Genetics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA 02114, USA
    Semin Ophthalmol 26:77-93. 2011
    ..Moreover, these studies provide the foundation for further investigation into the pathophysiology of AMD by utilizing a systems-biology-based approach to elucidate underlying mechanistic pathways...
  12. pmc Convergence of linkage, gene expression and association data demonstrates the influence of the RAR-related orphan receptor alpha (RORA) gene on neovascular AMD: a systems biology based approach
    Alexandra C Silveira
    Ocular Molecular Genetics Institute and Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
    Vision Res 50:698-715. 2010
    ..Moreover, we found a significant interaction between RORA and the ARMS2/HTRA1 locus suggesting a novel pathway underlying AMD pathophysiology...
  13. ncbi Prospective study of common variants in CX3CR1 and risk of macular degeneration: pooled analysis from 5 long-term studies
    Debra A Schaumberg
    Division of Preventive Medicine, Department of Medicine, Brigham and Women s Hospital, Harvard Medical School, Boston, Massachusetts2The Schepens Eye Research Institute, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts3Department
    JAMA Ophthalmol 132:84-95. 2014
    ....
  14. pmc Age-related macular degeneration-associated silent polymorphisms in HtrA1 impair its ability to antagonize insulin-like growth factor 1
    Sarah Melissa P Jacobo
    Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Boston, MA, USA
    Mol Cell Biol 33:1976-90. 2013
    ..These observations highlight the relevance of synonymous codon usage to protein function and implicate homeostatic protein quality control mechanisms that may go awry in NvAMD...
  15. pmc DNA sequence variants in the LOXL1 gene are associated with pseudoexfoliation glaucoma in a U.S. clinic-based population with broad ethnic diversity
    Bao Jian Fan
    Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, USA
    BMC Med Genet 9:5. 2008
    ....
  16. pmc High throughput mass spectrometry-based mutation profiling of primary uveal melanoma
    Anthony B Daniels
    Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts 02114 3096, USA
    Invest Ophthalmol Vis Sci 53:6991-6. 2012
    ..We assessed for mutations in a large number of oncogenes and tumor suppressor genes in primary uveal melanomas using a high-throughput profiling system...
  17. pmc Increased choroidal neovascularization following laser induction in mice lacking lysyl oxidase-like 1
    Hyeong Gon Yu
    Angiogenesis Laboratory and Laser Laboratory, Retina Research Institute, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Invest Ophthalmol Vis Sci 49:2599-605. 2008
    ..This study investigated the influence of defective elastic fiber maintenance in the development of laser-induced CNV...
  18. doi Unilateral sporadic retinal dysplasia: results of histopathologic, immunohistochemical, chromosomal, genetic, and VEGF-A analyses
    Frederick A Jakobiec
    David G Cogan Laboratory of Ophthalmic Pathology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts 02114, USA Email
    J AAPOS 15:579-86. 2011
    ..To describe new findings in a case of unilateral retinal dysplasia...
  19. ncbi Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa
    Margaret M DeAngelis
    Massachusetts Eye and Ear Infirmary, 243 Charles St, Boston, MA 02114, USA
    Arch Ophthalmol 120:369-75. 2002
    ....
  20. doi A search for age-related macular degeneration risk variants in Alzheimer disease genes and pathways
    Mark W Logue
    Department of Medicine Biomedical Genetics, Boston University School of Medicine, Boston, MA, USA Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA
    Neurobiol Aging 35:1510.e7-18. 2014
    ..34, OR = 0.89, p = 1.17 × 10(-5)), which is a member of the atherosclerosis signaling and the LXR/RXR activation pathways. Our results suggest that AMD and AD share genetic mechanisms...
  21. doi Modifier genes as therapeutics: the nuclear hormone receptor Rev Erb alpha (Nr1d1) rescues Nr2e3 associated retinal disease
    NELLY M CRUZ
    Schepens Eye Research Institute, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States of America Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States of America
    PLoS ONE 9:e87942. 2014
    ..Together, these findings reveal the potency of nuclear receptors as modulators of disease and specifically of NR1D1 as a novel therapeutic for retinal degenerations. ..