A Shiels

Summary

Affiliation: Washington University School of Medicine
Country: USA

Publications

  1. pmc Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract
    Thomas M Bennett
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 19:835-44. 2013
  2. pmc A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q
    Thomas M Bennett
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA
    Mol Vis 17:2255-62. 2011
  3. ncbi request reprint X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 13:2233-41. 2007
  4. ncbi request reprint Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, Campus Box 8096, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Invest Ophthalmol Vis Sci 48:500-8. 2007
  5. pmc CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 81:596-606. 2007
  6. pmc The EPHA2 gene is associated with cataracts linked to chromosome 1p
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 14:2042-55. 2008
  7. pmc Cat-Map: putting cataract on the map
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 16:2007-15. 2010
  8. ncbi request reprint Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice
    A Shiels
    Departments of Ophthalmology and Visual Sciences, Genetics, Cell Biology Washington University School of Medicine, St Louis, Missouri 63110, USA
    Physiol Genomics 7:179-86. 2001
  9. ncbi request reprint Disruption of lens fiber cell architecture in mice expressing a chimeric AQP0-LTR protein
    A Shiels
    Department of Ophthalmology, Washington University School of Medicine, St Louis 63110, Missouri, USA
    FASEB J 14:2207-12. 2000
  10. ncbi request reprint A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q
    Thomas M Bennett
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 10:376-82. 2004

Research Grants

  1. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2004
  2. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2005
  3. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2006
  4. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2005
  5. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2007
  6. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2008
  7. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2009
  8. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2010
  9. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2003
  10. Lens major intrinsic proteins in hereditary cataract
    Alan Shiels; Fiscal Year: 2003

Collaborators

Detail Information

Publications24

  1. pmc Noncoding variation of the gene for ferritin light chain in hereditary and age-related cataract
    Thomas M Bennett
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 19:835-44. 2013
    ....
  2. pmc A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q
    Thomas M Bennett
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA
    Mol Vis 17:2255-62. 2011
    ..To map and identify the genetic defect underlying autosomal dominant cataract segregating in a 5-generation Caucasian American family...
  3. ncbi request reprint X-linked idiopathic infantile nystagmus associated with a missense mutation in FRMD7
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 13:2233-41. 2007
    ..Here we map and identify the genetic mutation underlying X-linked idiopathic infantile nystagmus (XL-IIN) segregating in two Caucasian-American families...
  4. ncbi request reprint Refractive defects and cataracts in mice lacking lens intrinsic membrane protein-2
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, Campus Box 8096, 660 South Euclid Avenue, St Louis, MO 63110, USA
    Invest Ophthalmol Vis Sci 48:500-8. 2007
    ..To characterize the optical properties of lenses from mice deficient in the gene for lens intrinsic membrane protein-2 (Lim2), which encodes the second most abundant integral protein (Lim2) of lens fiber cell plasma membranes...
  5. pmc CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 81:596-606. 2007
    ....
  6. pmc The EPHA2 gene is associated with cataracts linked to chromosome 1p
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 14:2042-55. 2008
    ....
  7. pmc Cat-Map: putting cataract on the map
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 16:2007-15. 2010
    ....
  8. ncbi request reprint Optical dysfunction of the crystalline lens in aquaporin-0-deficient mice
    A Shiels
    Departments of Ophthalmology and Visual Sciences, Genetics, Cell Biology Washington University School of Medicine, St Louis, Missouri 63110, USA
    Physiol Genomics 7:179-86. 2001
    ..These findings show that heterozygous loss of AQP0 is sufficient to trigger cataractogenesis in mice and suggest that this MIP is required for optimal focusing of the crystalline lens...
  9. ncbi request reprint Disruption of lens fiber cell architecture in mice expressing a chimeric AQP0-LTR protein
    A Shiels
    Department of Ophthalmology, Washington University School of Medicine, St Louis 63110, Missouri, USA
    FASEB J 14:2207-12. 2000
    ....
  10. ncbi request reprint A novel missense mutation in the gene for gap-junction protein alpha3 (GJA3) associated with autosomal dominant "nuclear punctate" cataracts linked to chromosome 13q
    Thomas M Bennett
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 10:376-82. 2004
    ..The purpose of this study was to map and identify the mutation underlying autosomal dominant nuclear punctate cataracts segregating in a six generation Caucasian pedigree...
  11. ncbi request reprint Cell death triggered by a novel mutation in the alphaA-crystallin gene underlies autosomal dominant cataract linked to chromosome 21q
    Donna S Mackay
    Department of Ophthalmology, Washington University School of Medicine, St Louis, MO 63110, USA
    Eur J Hum Genet 11:784-93. 2003
    ..This study has identified the first dominant cataract mutation in CRYAA located outside the phylogenetically conserved 'alpha-crystallin core domain' of the sHSP family...
  12. doi request reprint Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to photodynamic therapy
    M A Brantley
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Eye (Lond) 23:626-31. 2009
    ..To determine whether there is an association between complement factor H (CFH) or LOC387715 genotypes and response to treatment with photodynamic therapy (PDT) for exudative age-related macular degeneration (AMD)...
  13. ncbi request reprint A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant "coral-like" cataract linked to chromosome 2q
    Donna S Mackay
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Mol Vis 10:155-62. 2004
    ..The purpose of this study was to map and identify the mutation underlying an autosomal dominant form of coral-shaped cataract segregating in a three generation Caucasian pedigree...
  14. pmc A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
    A Shiels
    Department of Molecular Genetics, Institute of Ophthalmology, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 62:526-32. 1998
    ..These studies provide the first direct evidence that GJA8 plays a vital role in the maintenance of human lens transparency and identify the genetic defect believed to underlie the first inherited disease to be linked to a human autosome...
  15. pmc The stratified syncytium of the vertebrate lens
    Yanrong Shi
    Department of Ophthalmology, Washington University School of Medicine, 660 S Euclid Ave, St Louis, MO 63110, USA
    J Cell Sci 122:1607-15. 2009
    ..The observation that lens tissue constitutes a stratified syncytium has implications for the transparency, refractive function and pathophysiology of the tissue...
  16. ncbi request reprint Association of complement factor H and LOC387715 genotypes with response of exudative age-related macular degeneration to intravitreal bevacizumab
    Milam A Brantley
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Ophthalmology 114:2168-73. 2007
    ..To investigate whether there is an association between complement factor H (CFH) or LOC387715 genotypes with response to treatment with intravitreal bevacizumab for exudative age-related macular degeneration (AMD)...
  17. pmc Clinical phenotypes associated with the complement factor H Y402H variant in age-related macular degeneration
    Milam A Brantley
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, Missouri 63110, USA
    Am J Ophthalmol 144:404-408. 2007
    ..To determine whether the complement factor H (CFH) Y402H variant is associated with specific age-related macular degeneration (AMD) clinical phenotypes...
  18. pmc Genetics of human cataract
    A Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA
    Clin Genet 84:120-7. 2013
    ..The set of genes currently known to be associated with cataract is far from complete, especially for age-related cataract, and there is much additional information to be discovered through further genetic studies. ..
  19. pmc A nonsense mutation in CRYBB1 associated with autosomal dominant cataract linked to human chromosome 22q
    Donna S Mackay
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Am J Hum Genet 71:1216-21. 2002
    ..This study has identified the first CRYBB1 mutation associated with autosomal dominant cataract in humans...
  20. pmc Pharmacogenetics of complement factor H (Y402H) and treatment of exudative age-related macular degeneration with ranibizumab
    A Y Lee
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO 63110, USA
    Br J Ophthalmol 93:610-3. 2009
    ..To determine whether complement factor H (CFH) genotypes have a pharmacogenetic effect on the treatment of exudative age-related macular degeneration (AMD) with ranibizumab...
  21. ncbi request reprint Genetic origins of cataract
    Alan Shiels
    Department of Ophthalmology and Visual Sciences, Washington University School of Medicine, St Louis, MO, USA
    Arch Ophthalmol 125:165-73. 2007
  22. ncbi request reprint Regulation of aquaporin water permeability in the lens
    Kulandaiappan Varadaraj
    Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, New York, USA
    Invest Ophthalmol Vis Sci 46:1393-402. 2005
    ..To examine Ca(2+)- and pH-mediated regulation of water permeability of endogenously expressed aquaporin (AQP)0 in lens fiber cells and AQP1 in lens epithelial cells...
  23. ncbi request reprint Galactokinase gene mutations and age-related cataract. Lack of association in an Italian population
    Giovanni Maraini
    Ophthalmology, University of Parma, Parma, Italy
    Mol Vis 9:397-400. 2003
    ..To investigate possible associations between sequence changes in the galactokinase gene (GALK1) and age-related cataract in a European population...
  24. ncbi request reprint Lens structure in MIP-deficient mice
    Kristin J Al-Ghoul
    Department of Anatomy and Cell Biology, Rush Presbyterian St Luke s Medical Center, Chicago, Illinois 60612, USA
    Anat Rec A Discov Mol Cell Evol Biol 273:714-30. 2003
    ..The results of this study suggest that MIP has essential roles in the establishment and maintenance of uniform fiber structure, and the organization of fibers, and as such is essential for lens function...

Research Grants23

  1. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2004
    ..Better evaluation of environmental risk factors for cataract, thereby enabling genetically susceptible individuals to choose a lifestyle that delays or even prevents cataract onset. ..
  2. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2005
    ..Better evaluation of environmental risk factors for cataract, thereby enabling genetically susceptible individuals to choose a lifestyle that delays or even prevents cataract onset. ..
  3. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2006
    ..Better evaluation of environmental risk factors for cataract, thereby enabling genetically susceptible individuals to choose a lifestyle that delays or even prevents cataract onset. ..
  4. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2005
    ..Better evaluation of environmental risk factors for cataract, thereby enabling genetically susceptible individuals to choose a lifestyle that delays or even prevents cataract onset. ..
  5. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2007
    ..This research aims to identify and characterize genetic factors that cause cataract to run in families and develop new ways to diagnose, treat and even prevent cataract. ..
  6. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2008
    ..This research aims to identify and characterize genetic factors that cause cataract to run in families and develop new ways to diagnose, treat and even prevent cataract. ..
  7. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2009
    ..This research aims to identify and characterize genetic factors that cause cataract to run in families and develop new ways to diagnose, treat and even prevent cataract. ..
  8. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2010
    ..This research aims to identify and characterize genetic factors that cause cataract to run in families and develop new ways to diagnose, treat and even prevent cataract. ..
  9. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2003
    ..Better evaluation of environmental risk factors for cataract, thereby enabling genetically susceptible individuals to choose a lifestyle that delays or even prevents cataract onset. ..
  10. Lens major intrinsic proteins in hereditary cataract
    Alan Shiels; Fiscal Year: 2003
    ..abstract_text> ..
  11. HUMAN LENS CONNEXIN GENES IN HEREDITARY CATARACT
    Alan Shiels; Fiscal Year: 1999
    ..Ultimately, such data will contribute to the design of new preventative and therapeutic strategies for the clinical management of cataract. ..
  12. LENS MAJOR INTRINSIC PROTEIN IN HEREDITARY CATERACT
    Alan Shiels; Fiscal Year: 1999
    ..Ultimately, these studies will provide new insights regarding the role of MIP in lens development and provide a relevant model system for MIP-related cataract in humans. ..
  13. HUMAN LENS CONNEXIN GENES IN HEREDITARY CATARACT
    Alan Shiels; Fiscal Year: 2000
    ..Ultimately, such data will contribute to the design of new preventative and therapeutic strategies for the clinical management of cataract. ..
  14. LENS MAJOR INTRINSIC PROTEIN IN HEREDITARY CATERACT
    Alan Shiels; Fiscal Year: 2000
    ..Ultimately, these studies will provide new insights regarding the role of MIP in lens development and provide a relevant model system for MIP-related cataract in humans. ..
  15. LENS MAJOR INTRINSIC PROTEIN IN HEREDITARY CATARACT
    Alan Shiels; Fiscal Year: 2001
    ..Ultimately, these studies will provide new insights regarding the role of MIP in lens development and provide a relevant model system for MIP-related cataract in humans. ..
  16. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2002
    ..Better evaluation of environmental risk factors for cataract, thereby enabling genetically susceptible individuals to choose a lifestyle that delays or even prevents cataract onset. ..
  17. Genetic determinants of cataract
    Alan Shiels; Fiscal Year: 2009
    ..This research aims to identify and characterize genetic factors that cause cataract to run in families and develop new ways to diagnose, treat and even prevent cataract. ..