Research Topics
Genomes and Genes | Lori S SullivanSummaryAffiliation: Baylor College of Medicine Country: USA Publications
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Publications
A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophyLori 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...- Identification of disease-causing mutations in autosomal dominant retinitis pigmentosa (adRP) using next-generation DNA sequencingSara 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... - Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosaLori 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... - Prevalence of disease-causing mutations in families with autosomal dominant retinitis pigmentosa: a screen of known genes in 200 familiesLori 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... - 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 - Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and leber congenital amaurosisSara 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.... - Identification of the RP1 and RP10 (IMPDH1) genes causing autosomal dominant RPStephen P Daiger
Human Genetics Center, Dept. of Ophthalmology, The Univ. of Texas, Houston, TX, USA
Adv Exp Med Biol 533:1-11. 2003 - Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosaSara 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.... 
The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosaAnisa 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)...- 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... - A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvementSara 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... - Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) geneSara 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... - Investigating the mechanism of disease in the RP10 form of retinitis pigmentosaCatherine 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... - Characterization of retinal inosine monophosphate dehydrogenase 1 in several mammalian speciesCatherine 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... - Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosaSara 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... - Targeted high-throughput DNA sequencing for gene discovery in retinitis pigmentosaStephen 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... - Exclusion of the human collagen type XVII (COL17A1) gene as the cause of Thiel-Behnke corneal dystrophy (CDB2) on chromosome 10q23-q25Lori 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... - Genetic factors modifying clinical expression of autosomal dominant RPStephen P Daiger
Human Genetics Ctr and Dept. of Ophthalmology, Univ. of Texas, Houston, TX, USA
Adv Exp Med Biol 572:3-8. 2006 - Perspective on genes and mutations causing retinitis pigmentosaStephen 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.... - Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 genePetra 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)... - Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS geneShahrokh C Khani
Department of Ophthalmology, State University of New York at Buffalo, Buffalo, New York, USA
Invest Ophthalmol Vis Sci 44:3570-7. 2003.... - Identification and subcellular localization of the RP1 protein in human and mouse photoreceptorsQin 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... - Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) geneJiangang 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...