Sara J Bowne

Summary

Affiliation: Baylor College of Medicine
Country: USA

Publications

  1. ncbi Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
    Sara J Bowne
    The University of Texas Health Science Center, Human Genetics Center, School of Public Health, Houston, TX 77030, USA
    Mol Vis 14:922-7. 2008
  2. ncbi Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis
    Sara J Bowne
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA
    Invest Ophthalmol Vis Sci 47:34-42. 2006
  3. ncbi Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP)
    Stephen P Daiger
    Human Genetics Center, School of Public Health, and Dept. of Ophthalmology, The Univ. of Texas, Houston, TX, USA
    Adv Exp Med Biol 613:203-9. 2008
  4. ncbi Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa
    Lori S Sullivan
    Human Genetics Center, The University of Texas Health Science Center at Houston, TX 77030, USA
    Invest Ophthalmol Vis Sci 47:4579-88. 2006
  5. ncbi Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families
    Lori S Sullivan
    Human Genetics Center, School of Public Health, Department of Ophthalmology and Visual Science, The University of Texas Health Science Center, Houston 77030, USA
    Invest Ophthalmol Vis Sci 47:3052-64. 2006
  6. ncbi Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations
    Abigail T Fahim
    School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, United States of America
    PLoS ONE 6:e23021. 2011
  7. ncbi Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP
    Stephen P Daiger
    Human Genetics Center, Dept. of Ophthalmology, The Univ. of Texas, Houston, TX, USA
    Adv Exp Med Biol 533:1-11. 2003
  8. ncbi Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?
    Sara J Bowne
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center Houston, TX 77030, USA
    Invest Ophthalmol Vis Sci 47:3754-65. 2006
  9. ncbi A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
    Sara J Bowne
    Human Genetics Center, The University of Texas Health Science Center, Houston, TX, USA
    Eur J Hum Genet 19:1074-81. 2011
  10. ncbi The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa
    Anisa I Gire
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, 77030, USA
    Mol Vis 13:1970-5. 2007

Detail Information

Publications22

  1. ncbi Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa
    Sara J Bowne
    The University of Texas Health Science Center, Human Genetics Center, School of Public Health, Houston, TX 77030, USA
    Mol Vis 14:922-7. 2008
    ....
  2. ncbi Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosis
    Sara J Bowne
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA
    Invest Ophthalmol Vis Sci 47:34-42. 2006
    ....
  3. ncbi Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP)
    Stephen P Daiger
    Human Genetics Center, School of Public Health, and Dept. of Ophthalmology, The Univ. of Texas, Houston, TX, USA
    Adv Exp Med Biol 613:203-9. 2008
  4. ncbi Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa
    Lori S Sullivan
    Human Genetics Center, The University of Texas Health Science Center at Houston, TX 77030, USA
    Invest Ophthalmol Vis Sci 47:4579-88. 2006
    ..To determine whether genomic rearrangements in the PRPF31 (RP11) gene are a frequent cause of autosomal dominant retinitis pigmentosa (adRP) in a cohort of patients with adRP...
  5. ncbi Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 families
    Lori S Sullivan
    Human Genetics Center, School of Public Health, Department of Ophthalmology and Visual Science, The University of Texas Health Science Center, Houston 77030, USA
    Invest Ophthalmol Vis Sci 47:3052-64. 2006
    ..To survey families with clinical evidence of autosomal dominant retinitis pigmentosa (adRP) for mutations in genes known to cause adRP...
  6. ncbi Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations
    Abigail T Fahim
    School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, United States of America
    PLoS ONE 6:e23021. 2011
    ..In addition, common variants in 2 proteins known to interact with RPGR are associated with severe disease in this cohort...
  7. ncbi Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RP
    Stephen P Daiger
    Human Genetics Center, Dept. of Ophthalmology, The Univ. of Texas, Houston, TX, USA
    Adv Exp Med Biol 533:1-11. 2003
  8. ncbi Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration?
    Sara J Bowne
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center Houston, TX 77030, USA
    Invest Ophthalmol Vis Sci 47:3754-65. 2006
    ..Despite its conservation and ubiquity, the clinical consequences of missense mutations in IMPDH1 are limited to the retina, and the disease mechanism is currently unknown...
  9. ncbi A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement
    Sara J Bowne
    Human Genetics Center, The University of Texas Health Science Center, Houston, TX, USA
    Eur J Hum Genet 19:1074-81. 2011
    ..Gene therapy for LCA patients with RPE65 mutations has shown great promise, raising the possibility of related therapies for dominant-acting mutations in this gene...
  10. ncbi The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa
    Anisa I Gire
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, 77030, USA
    Mol Vis 13:1970-5. 2007
    ..The purpose of this study was to determine the prevalence of the recently described Gly56Arg mutation in a well characterized cohort of families with autosomal dominant retinitis pigmentosa (adRP)...
  11. ncbi Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
    Sara J Bowne
    Human Genetics Center, School of Public Health, The University of Texas HSC, Houston, TX 77030, USA
    Hum Mol Genet 11:559-68. 2002
    ..Several classes of drugs are known to affect IMPDH isoenzymes, including nucleotide and NAD analogs, suggesting that small-molecule therapy may be available, one day, for RP10 patients...
  12. ncbi Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian species
    Catherine J Spellicy
    Human Genetics Center, School of Public Health, University of Texas Health Science Center, Houston, TX 77030, USA
    Mol Vis 13:1866-72. 2007
    ..Mutations in IMPDH1 cause the RP10 form of autosomal dominant retinitis pigmentosa, and are a rare cause of Leber congenital amaurosis...
  13. ncbi Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene
    Sara J Bowne
    Human Genetics Center, University of Texas Health Science Center at Houston, TX 77225, USA
    Mol Vis 9:129-37. 2003
    ..Since mutations in the RP1 gene cause autosomal dominant retinitis pigmentosa, it is possible that mutations in RP1's most sequence similar relative, RP1L1, may also be a cause of inherited retinal degeneration...
  14. ncbi Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa
    Catherine J Spellicy
    The University of Texas Health Science Center Houston, Houston, TX 77030, USA
    Adv Exp Med Biol 664:541-8. 2010
    ..We believe that through clarifying the mechanism of disease in RP10 we will be equipped to consider treatment options for this disease...
  15. ncbi Genetic factors modifying clinical expression of autosomal dominant RP
    Stephen P Daiger
    Human Genetics Ctr and Dept. of Ophthalmology, Univ. of Texas, Houston, TX, USA
    Adv Exp Med Biol 572:3-8. 2006
  16. ncbi Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencing
    Sara J Bowne
    Human Genetics Center, The University of Texas Health Science Center, Houston, Texas 77030, USA
    Invest Ophthalmol Vis Sci 52:494-503. 2011
    ..RP has multiple patterns of inheritance, with mutations in many genes for each inheritance pattern and numerous, distinct, disease-causing mutations at each locus; further, many RP genes have not been identified yet...
  17. ncbi Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosa
    Stephen P Daiger
    Department of Ophthalmology and Visual Science, University of Texas Health Science Center, Houston, TX, USA
    Adv Exp Med Biol 664:325-31. 2010
    ..After validation studies, the first DNA's tested will be from 89 unrelated adRP families in which the prevalent RP genes have been excluded. This approach should identify new RP genes and will substantially reduce the cost per patient...
  18. ncbi Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25
    Lori S Sullivan
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX 77030, USA
    Curr Eye Res 27:223-6. 2003
    ..Previous studies in our laboratory have suggested that the COL17A1 gene may be the cause of Thiel-Behnke Corneal Dystrophy (CDB2) on Chromosome 10q23-q25...
  19. ncbi Perspective on genes and mutations causing retinitis pigmentosa
    Stephen P Daiger
    Department of Ophthalmology and Visual Science, School of Medicine, The University of Texas Health Science Center, Houston, TX 77030, USA
    Arch Ophthalmol 125:151-8. 2007
    ....
  20. ncbi Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins
    Dong Xu
    Department of Biochemistry, Brandeis University, 415 South Street, MS 009, Waltham, MA 02454, USA
    Arch Biochem Biophys 472:100-4. 2008
    ..This observation indicates that the C-terminal extension unique to the retinal isoforms blocks the nucleic acid binding site of IMPDH1, and thus uniquely regulates protein function within photoreceptors...
  21. ncbi Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene
    Petra Kozma
    Retina Foundation of the Southwest, Dallas, Texas 75231, USA
    Am J Ophthalmol 140:858-867. 2005
    ..To evaluate the clinical features associated with the RP10 form of autosomal-dominant retinitis pigmentosa in 11 affected members of various ages from one family with a defined IMPDH1 mutation (Asp226Asn)...
  22. ncbi On the role of IMPDH1 in retinal degeneration
    Avril Kennan
    The Ocular Genetics Unit, Department of Genetics, Trinity College, Dublin 2, Ireland
    Adv Exp Med Biol 533:13-8. 2003