Lori S Sullivan

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. pmc A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy
    Lori S Sullivan
    School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA
    Mol Vis 13:975-80. 2007
  2. pmc 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
  3. pmc 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
  4. pmc 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
  5. pmc 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
  6. pmc 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
  7. pmc 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. pmc Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa
    Jennifer D Churchill
    Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA
    Invest Ophthalmol Vis Sci 54:1411-6. 2013
  9. pmc 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
  10. ncbi request reprint 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

Collaborators

Detail Information

Publications26

  1. pmc A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy
    Lori S Sullivan
    School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas 77030, USA
    Mol Vis 13:975-80. 2007
    ..To determine if a mutation within the coding region of the keratin 12 gene (KRT12) is responsible for a severe form of Meesmann's corneal dystrophy...
  2. pmc 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...
  3. pmc 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...
  4. pmc 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...
  5. pmc 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
  6. pmc 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
    ....
  7. pmc 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. pmc Mutations in the X-linked retinitis pigmentosa genes RPGR and RP2 found in 8.5% of families with a provisional diagnosis of autosomal dominant retinitis pigmentosa
    Jennifer D Churchill
    Human Genetics Center, University of Texas Health Science Center at Houston, Houston, Texas 77030, USA
    Invest Ophthalmol Vis Sci 54:1411-6. 2013
    ....
  9. pmc 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...
  10. ncbi request reprint 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. pmc 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
    ....
  12. pmc 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...
  13. pmc 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 request reprint 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...
  15. ncbi request reprint 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...
  16. pmc 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...
  17. ncbi request reprint Application of next-generation sequencing to identify genes and mutations causing autosomal dominant retinitis pigmentosa (adRP)
    Stephen P Daiger
    Human Genetics Center, School of Public Health, Univ of Texas HSC, 1200 Herman Pressler Dr, 77030, Houston, TX, USA
    Adv Exp Med Biol 801:123-9. 2014
    ..We detected mutations in 11 of these families (31 %) bringing the total detected in the adRP cohort to 70 %. Several large families have also been tested for linkage using Afymetrix single nucleotide polymorphism (SNP) arrays. ..
  18. pmc 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...
  19. pmc Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa
    Sara J Bowne
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center Houston, TX
    Mol Vis 19:2407-17. 2013
    ..The purpose of this project was to determine the spectrum and frequency of mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) that cause autosomal dominant retinitis pigmentosa (adRP)...
  20. ncbi request reprint 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...
  21. pmc 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
  22. pmc 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
    ....
  23. pmc 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)...
  24. pmc Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene
    Shahrokh C Khani
    Department of Ophthalmology, State University of New York at Buffalo, Buffalo, New York, USA
    Invest Ophthalmol Vis Sci 44:3570-7. 2003
    ....
  25. 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...
  26. pmc Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene
    Jiangang Gao
    Department of Developmental Neurobiology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Proc Natl Acad Sci U S A 99:5698-703. 2002
    ..The phenotype of Rp1 mutant mice resembles the human RP1 disease. Thus, these mice provide a useful model for studies of RP1 function, disease pathology, and therapeutic interventions...