Stephen Daiger

Summary

Affiliation: Texas Medical Center
Country: USA

Publications

  1. pmc 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
  2. pmc Genes and mutations causing retinitis pigmentosa
    S P Daiger
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA
    Clin Genet 84:132-41. 2013
  3. 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
  4. pmc Genetics. Was the Human Genome Project worth the effort?
    Stephen P Daiger
    Human Genetics Center, University of Texas Health Sciences Center, Houston, TX 77030, USA
    Science 308:362-4. 2005
  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 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
  7. 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
  8. 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
  9. 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
  10. 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

Collaborators

Detail Information

Publications29

  1. pmc 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...
  2. pmc Genes and mutations causing retinitis pigmentosa
    S P Daiger
    Human Genetics Center, School of Public Health, The University of Texas Health Science Center, Houston, TX 77030, USA
    Clin Genet 84:132-41. 2013
    ..In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease. ..
  3. 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
    ....
  4. pmc Genetics. Was the Human Genome Project worth the effort?
    Stephen P Daiger
    Human Genetics Center, University of Texas Health Sciences Center, Houston, TX 77030, USA
    Science 308:362-4. 2005
  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 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
  7. 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
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. 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
    ....
  13. 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)...
  14. 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...
  15. pmc 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 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
    ....
  17. 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...
  18. 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...
  19. 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...
  20. pmc Identifying retinal disease genes: how far have we come, how far do we have to go?
    Stephen P Daiger
    Human Genetics Center, School of Public Health, Department of Ophthalmology and Visual Science, The University of Texas Health Science Center, Houston, TX 77030, USA
    Novartis Found Symp 255:17-27; discussion 27-36, 177-8. 2004
    ....
  21. 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...
  22. 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
    ....
  23. doi request reprint Evidence for a novel x-linked modifier locus for leber hereditary optic neuropathy
    Suma P Shankar
    Department of Ophthalmology and Visual Sciences, University of Iowa, Iowa City, Iowa, USA
    Ophthalmic Genet 29:17-24. 2008
    ..00 (P = 0.005) and a maximum two-point non-parametric linkage score of 10.12, (P = 0.003) for marker DXS984 (Xq27.1). These results suggest genetic heterogeneity for X-linked modifiers of LHON...
  24. pmc 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...
  25. 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)...
  26. 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...
  27. pmc 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
  28. pmc Defining the human macula transcriptome and candidate retinal disease genes using EyeSAGE
    Catherine Bowes Rickman
    Department of Ophthalmology, Duke University Medical Center, Durham, NC 27710, USA
    Invest Ophthalmol Vis Sci 47:2305-16. 2006
    ....
  29. 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...

Research Grants18

  1. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 2009
    ..As new genes are identified, or as new approaches to testing become available, this panel is screened to replicate findings, determine prevalences, and evaluate new concepts. ..
  2. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 2009
    ..As new genes are identified, or as new approaches to testing become available, this panel is screened to replicate findings, determine prevalences, and evaluate new concepts. ..
  3. Identifying the RP10 gene causing retinitis pigmentosa
    Stephen Daiger; Fiscal Year: 2004
    ..abstract_text> ..
  4. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 2004
    ..A fuller understanding of the causes of dominant retinopathies will foster development of prevention and treatment. ..
  5. Identifying the RP10 gene causing retinitis pigmentosa
    Stephen Daiger; Fiscal Year: 2003
    ..abstract_text> ..
  6. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 2003
    ..A fuller understanding of the causes of dominant retinopathies will foster development of prevention and treatment. ..
  7. Identifying the RP10 gene causing retinitis pigmentosa
    Stephen Daiger; Fiscal Year: 2002
    ..abstract_text> ..
  8. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 2002
    ..A fuller understanding of the causes of dominant retinopathies will foster development of prevention and treatment. ..
  9. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 2000
    ..A more complete understanding of the molecular causes of RP may foster the development of novel therapies for this disease. ..
  10. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 1991
    ..Linked markers for ADRP and Usher's syndrome will be of value in early diagnosis, in detection of genetic heterogeneity and eventually, in isolation and characterization of the mutant genes...
  11. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 1990
    ..Linked markers for ADRP and Usher's syndrome will be of value in early diagnosis, in detection of genetic heterogeneity and eventually, in isolation and characterization of the mutant genes...
  12. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen Daiger; Fiscal Year: 1999
    ..A more complete understanding of the molecular causes of RP may foster the development of novel therapies for this disease. ..
  13. DNA LINKAGE STUDIES OF DEGENERATIVE RETINAL DISEASES
    Stephen P Daiger; Fiscal Year: 2010
    ..As new genes are identified, or as new approaches to testing become available, this panel is screened to replicate findings, determine prevalences, and evaluate new concepts. ..