1 - 25 of 38 results for author:"Daiger S.P." in Literature citations
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| Polymorphic variation of RPGRIP1L and IQCB1 as modifiers of X-linked retinitis pigmentosa caused by mutations in RPGR. Fahim A.T., Bowne S.J., Sullivan L.S., Webb K.D., Williams J.T., Wheaton D.K., Birch D.G., Daiger S.P. Adv. Exp. Med. Biol. 723:313-320(2012) · Mapped (4) |
| Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7. Wen Y., Locke K.G., Klein M., Bowne S.J., Sullivan L.S., Ray J.W., Daiger S.P., Birch D.G., Hughbanks-Wheaton D.K. Arch. Ophthalmol. 129:1475-1482(2011) · UniProtKB (1) · Mapped (8) |
| Allelic heterogeneity and genetic modifier loci contribute to clinical variation in males with X-linked retinitis pigmentosa due to RPGR mutations. Fahim A.T., Bowne S.J., Sullivan L.S., Webb K.D., Williams J.T., Wheaton D.K., Birch D.G., Daiger S.P. PLoS ONE 6:e23021-e23021(2011) · Mapped (4) |
| A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement. Bowne S.J., Humphries M.M., Sullivan L.S., Kenna P.F., Tam L.C., Kiang A.S., Campbell M., Weinstock G.M., Koboldt D.C., Ding L. et al. Eur. J. Hum. Genet. 19:1074-1081(2011) · UniProtKB (1) · Mapped (2) |
| PITPNM3 is an uncommon cause of cone and cone-rod dystrophies. Kohn L., Kohl S., Bowne S.J., Sullivan L.S., Kellner U., Daiger S.P., Sandgren O., Golovleva I. Ophthalmic Genet. 31:139-140(2010) · Mapped (4) |
| A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. Riazuddin S.A., Iqbal M., Wang Y., Masuda T., Chen Y., Bowne S., Sullivan L.S., Waseem N.H., Bhattacharya S., Daiger S.P. et al. Am. J. Hum. Genet. 86:805-812(2010) · UniProtKB (2) · Mapped (3) |
| Autosomal-dominant retinitis pigmentosa caused by a mutation in SNRNP200, a gene required for unwinding of U4/U6 snRNAs. Zhao C., Bellur D.L., Lu S., Zhao F., Grassi M.A., Bowne S.J., Sullivan L.S., Daiger S.P., Chen L.J., Pang C.P. et al. Am. J. Hum. Genet. 85:617-627(2009) · UniProtKB (1) · Mapped (10) |
| Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. Yamashita T., Liu J., Gao J., LeNoue S., Wang C., Kaminoh J., Bowne S.J., Sullivan L.S., Daiger S.P., Zhang K. et al. J. Neurosci. 29:9748-9760(2009) · UniProtKB (2) · Mapped (7) |
| Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Friedman J.S., Ray J.W., Waseem N., Johnson K., Brooks M.J., Hugosson T., Breuer D., Branham K.E., Krauth D.S., Bowne S.J. et al. Am. J. Hum. Genet. 84:792-800(2009) · UniProtKB (1) · Mapped (8) |
| IMP dehydrogenase type 1 associates with polyribosomes translating rhodopsin mRNA. Mortimer S.E., Xu D., McGrew D., Hamaguchi N., Lim H.C., Bowne S.J., Daiger S.P., Hedstrom L. J. Biol. Chem. 283:36354-36360(2008) · Mapped (10) |
| Mutations in the TOPORS gene cause 1% of autosomal dominant retinitis pigmentosa. Bowne S.J., Sullivan L.S., Gire A.I., Birch D.G., Hughbanks-Wheaton D., Heckenlively J.R., Daiger S.P. Mol. Vis. 14:922-927(2008) · Mapped (1) |
| Retinal isoforms of inosine 5'-monophosphate dehydrogenase type 1 are poor nucleic acid binding proteins. Xu D., Cobb G., Spellicy C.J., Bowne S.J., Daiger S.P., Hedstrom L. Arch. Biochem. Biophys. 472:100-104(2008) · Mapped (9) |
| Mutations in known genes account for 58% of autosomal dominant retinitis pigmentosa (adRP). Daiger S.P., Sullivan L.S., Gire A.I., Birch D.G., Heckenlively J.R., Bowne S.J. Adv. Exp. Med. Biol. 613:203-209(2008) · Mapped (4) |
| The Gly56Arg mutation in NR2E3 accounts for 1-2% of autosomal dominant retinitis pigmentosa. Gire A.I., Sullivan L.S., Bowne S.J., Birch D.G., Hughbanks-Wheaton D., Heckenlively J.R., Daiger S.P. Mol. Vis. 13:1970-1975(2007) · Mapped (5) |
| A novel mutation of the Keratin 12 gene responsible for a severe phenotype of Meesmann's corneal dystrophy. Sullivan L.S., Baylin E.B., Font R., Daiger S.P., Pepose J.S., Clinch T.E., Nakamura H., Zhao X.C., Yee R.W. Mol. Vis. 13:975-980(2007) · Mapped (1) |
| Genomic rearrangements of the PRPF31 gene account for 2.5% of autosomal dominant retinitis pigmentosa. Sullivan L.S., Bowne S.J., Seaman C.R., Blanton S.H., Lewis R.A., Heckenlively J.R., Birch D.G., Hughbanks-Wheaton D., Daiger S.P. Invest. Ophthalmol. Vis. Sci. 47:4579-4588(2006) · Mapped (5) |
| Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? Bowne S.J., Liu Q., Sullivan L.S., Zhu J., Spellicy C.J., Rickman C.B., Pierce E.A., Daiger S.P. Invest. Ophthalmol. Vis. Sci. 47:3754-3765(2006) · Mapped (15) |
| Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis. Bowne S.J., Sullivan L.S., Mortimer S.E., Hedstrom L., Zhu J., Spellicy C.J., Gire A.I., Hughbanks-Wheaton D., Birch D.G., Lewis R.A. et al. Invest. Ophthalmol. Vis. Sci. 47:34-42(2006) · UniProtKB (1) · Mapped (8) |
| Phenotypic characterization of a large family with RP10 autosomal-dominant retinitis pigmentosa: an Asp226Asn mutation in the IMPDH1 gene. Kozma P., Hughbanks-Wheaton D.K., Locke K.G., Fish G.E., Gire A.I., Spellicy C.J., Sullivan L.S., Bowne S.J., Daiger S.P., Birch D.G. Am. J. Ophthalmol. 140:858-867(2005) · Mapped (9) |
| Functional studies of AIPL1: potential role of AIPL1 in cell cycle exit and/or differentiation of photoreceptors. Akey D.T., Zhu X., Dyer M., Li A., Sorensen A., Fukada-Kamitani T., Daiger S.P., Craft C., Kamitani T., Sohocki M.M. Adv. Exp. Med. Biol. 533:287-295(2003) · Mapped (11) |
| Late-onset autosomal dominant macular dystrophy with choroidal neovascularization and nonexudative maculopathy associated with mutation in the RDS gene. Khani S.C., Karoukis A.J., Young J.E., Ambasudhan R., Burch T., Stockton R., Lewis R.A., Sullivan L.S., Daiger S.P., Reichel E. et al. Invest. Ophthalmol. Vis. Sci. 44:3570-3577(2003) · Mapped (2) |
| Characterization of RP1L1, a highly polymorphic paralog of the retinitis pigmentosa 1 (RP1) gene. Bowne S.J., Daiger S.P., Malone K.A., Heckenlively J.R., Kennan A., Humphries P., Hughbanks-Wheaton D., Birch D.G., Liu Q., Pierce E.A. et al. |
| The inherited blindness associated protein AIPL1 interacts with the cell cycle regulator protein NUB1. Akey D.T., Zhu X., Dyer M., Li A., Sorensen A., Blackshaw S., Fukuda-Kamitani T., Daiger S.P., Craft C.M., Kamitani T. et al. Hum. Mol. Genet. 11:2723-2733(2002) · UniProtKB (4) · Mapped (21) |
| Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. Gao J., Cheon K., Nusinowitz S., Liu Q., Bei D., Atkins K., Azimi A., Daiger S.P., Farber D.B., Heckenlively J.R. et al. Proc. Natl. Acad. Sci. U.S.A. 99:5698-5703(2002) · UniProtKB (1) · Mapped (5) |
| Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa. Bowne S.J., Sullivan L.S., Blanton S.H., Cepko C.L., Blackshaw S., Birch D.G., Hughbanks-Wheaton D., Heckenlively J.R., Daiger S.P. Hum. Mol. Genet. 11:559-568(2002) · UniProtKB (1) · Mapped (15) |