Citations for
Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families.
Van Cauwenbergh C, Coppieters F, Roels D, De Jaegere S, Flipts H, De Zaeytijd J, Walraedt S, Claes C, Fransen E, Van Camp G, Depasse F, Casteels I, de Ravel T, Leroy BP, De Baere E.
PLoS One 12(1):e0170038. doi: 10.1371/journal.pone.0170038. 2017
The K153Del PRPH2 mutation differentially impacts photoreceptor structure and function.
Chakraborty D, Conley SM, Zulliger R, Naash MI.
Hum Mol Genet 25(16):3500-3514. doi: 10.1093/hmg/ddw193. 2016
Evaluation of the association of single nucleotide polymorphisms in the PRPH2 gene with adult-onset foveomacular vitelliform dystrophy.
Grunin M, Tiosano L, Jaouni T, Averbukh E, Sharon D, Chowers I.
Ophthalmic Genet 37(3):285-9. doi: 10.3109/13816810.2015.1059456. 2016
Role of RDS and Rhodopsin in Cngb1-Related Retinal Degeneration.
Chakraborty D, Conley SM, Pittler SJ, Naash MI.
Invest Ophthalmol Vis Sci 57(3):787-97. doi: 10.1167/iovs.15-18516. 2016
RDS Functional Domains and Dysfunction in Disease.
Stuck MW, Conley SM, Naash MI.
Adv Exp Med Biol 854:217-22. doi: 10.1007/978-3-319-17121-0_29. Review. 2016
Retinal Degeneration Slow (RDS) Glycosylation Plays a Role in Cone Function and in the Regulation of RDSĚROM-1 Protein Complex Formation.
Stuck MW, Conley SM, Naash MI.
J Biol Chem 290(46):27901-13. doi: 10.1074/jbc.M115.683698. 2015
Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors.
Becirovic E, Nguyen ON, Paparizos C, Butz ES, Stern-Schneider G, Wolfrum U, Hauck SM, Ueffing M, Wahl-Schott C, Michalakis S, Biel M.
Hum Mol Genet 23(22):5989-97. doi: 10.1093/hmg/ddu323. 2014
Insights into the mechanisms of macular degeneration associated with the R172W mutation in RDS.
Conley SM, Stuck MW, Burnett JL, Chakraborty D, Azadi S, Fliesler SJ, Naash MI.
Hum Mol Genet 23(12):3102-14. doi: 10.1093/hmg/ddu014. 2014
Structural characterization of the second intra-discal loop of the photoreceptor tetraspanin RDS.
Chakraborty D, Rodgers KK, Conley SM, Naash MI.
FEBS J 280(1):127-38. doi: 10.1111/febs.12055. 2013
10LCA18, PRPH2
Combination of retinitis pigmentosa and hearing loss caused by a novel mutation in PRPH2 and a known mutation in GJB2: importance for differential diagnosis of Usher syndrome.
Fakin A, Zupan A, Glavač D, Hawlina M.
Vision Res 75:71-6. doi: 10.1016/j.visres.2012.07.011. 2012
11LCA18, PRPH2
Molecular diagnosis of putative Stargardt Disease probands by exome sequencing.
Strom SP, Gao YQ, Martinez A, Ortube C, Chen Z, Nelson SF, Nusinowitz S, Farber DB, Gorin MB.
BMC Med Genet 13:67. 2012
Unilateral vitelliform maculopathy: a comprehensive phenotype study with molecular screening of BEST1 and PRPH2.
Subash M, Rotsos T, Wright GA, Devery S, Holder GE, Robson AG, Pal B, Tufail A, Webster AR, Moore AT, Michaelides M.
Br J Ophthalmol 96(5):719-22. doi: 10.1136/bjophthalmol-2011-300964. 2012
Cone structure in retinal degeneration associated with mutations in the peripherin/RDS gene.
Duncan JL, Talcott KE, Ratnam K, Sundquist SM, Lucero AS, Day S, Zhang Y, Roorda A.
Invest Ophthalmol Vis Sci 52(3):1557-66. doi: 10.1167/iovs.10-6549. 2011
ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.
Poloschek CM, Bach M, LagrŔze WA, Glaus E, Lemke JR, Berger W, Neidhardt J.
Invest Ophthalmol Vis Sci. 51(8):4253-65. 2010
A novel peripherin/RDS mutation resulting in a retinal dystrophy with phenotypic variation
Kalyanasundaram TS, Black GC, O'Sullivan J, Bishop PN.
EYE 23(1):237-9 2009
The tetraspanin protein peripherin-2 forms a complex with melanoregulin, a putative membrane fusion regulator.
Boesze-Battaglia K, Song H, Sokolov M, Lillo C, Pankoski-Walker L, Gretzula C, Gallagher B, Rachel RA, Jenkins NA, Copeland NG, Morris F, Jacob J, Yeagle P, Williams DS, Damek-Poprawa M.
Biochemistry 46(5):1256-72. 2007
Surfactant composition and function in patients with ABCA3 mutations.
Garmany TH, Moxley MA, White FV, Dean M, Hull WM, Whitsett JA, Nogee LM, Hamvas A.
Pediatr Res 59(6):801-5. Epub 2006 Apr 26. 2006
Functional and trafficking defects in ATP binding cassette A3 mutants associated with respiratory distress syndrome.
Cheong N, Madesh M, Gonzales LW, Zhao M, Yu K, Ballard PL, Shuman H.
J Biol Chem 281(14):9791-800. Epub 2006 Jan 16. 2006
Characterization of peripherin/rds and rom-1 transport in rod photoreceptors of transgenic and knockout animals.
Lee ES, Burnside B, Flannery JG.
Invest Ophthalmol Vis Sci. 47(5):2150-60. 2006
Cone-rod dystrophy, intrafamilial variability, and incomplete penetrance associated with the R172W mutation in the peripherin/RDS gene.
Michaelides M, Holder GE, Bradshaw K, Hunt DM, Moore AT.
Ophthalmology 112(9):1592-8. 2005
ABCA3 gene mutations in newborns with fatal surfactant deficiency.
Shulenin S, Nogee LM, Annilo T, Wert SE, Whitsett JA, Dean M.
N Engl J Med 350(13):1296-303. 2004
Human ABCA3, a product of a responsible gene for abca3 for fatal surfactant deficiency in newborns, exhibits unique ATP hydrolysis activity and generates intracellular multilamellar vesicles.
Nagata K, Yamamoto A, Ban N, Tanaka AR, Matsuo M, Kioka N, Inagaki N, Ueda K.
Biochem Biophys Res Commun 324(1):262-8. 2004
Autosomal dominant central areolar choroidal dystrophy and a novel Arg195Leu mutation in the peripherin/RDS gene.
Yanagihashi S, Nakazawa M, Kurotaki J, Sato M, Miyagawa Y, Ohguro H.
Arch Ophthalmol 121(10):1458-61. No abstract available. 2003
A peculiar autosomal dominant macular dystrophy caused by an asparagine deletion at codon 169 in the peripherin/RDS gene.
van Lith-Verhoeven JJ, van den Helm B, Deutman AF, Bergen AA, Cremers FP, Hoyng CB, de Jong PT.
Arch Ophthalmol 121(10):1452-7. 2003
Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds-peripherin gene.
McNally N, Kenna PF, Rancourt D, Ahmed T, Stitt A, Colledge WH, Lloyd DG, Palfi A, O'Neill B, Humphries MM, Humphries P, Farrar GJ.
Hum Mol Genet. 11(9):1005-16. 2002
Molecular genetics of age-related macular degeneration.
Stone EM, Sheffield VC, Hageman GS.
Hum Mol Genet 10(20):2285-92. 2001
The cGMP-gated channel and related glutamic acid-rich proteins interact with peripherin-2 at the rim region of rod photoreceptor disc membranes.
Poetsch A, Molday LL, Molday RS.
J Biol Chem 276(51):48009-16. Epub 2001 Oct 18. 2001
Molecular characterization of peripherin-2 and rom-1 mutants responsible for digenic retinitis pigmentosa.
Loewen CJ, Moritz OL, Molday RS.
J Biol Chem. 276(25):22388-96. 2001
Gene replacement therapy in the retinal degeneration slow (rds) mouse: the effect on retinal degeneration following partial transduction of the retina.
Sarra GM, Stephens C, de Alwis M, Bainbridge JW, Smith AJ, Thrasher AJ, Ali RR.
Hum. Molec. Genet. 10(21):2353-61. 2001
Rom-1 is required for rod photoreceptor viability and the regulation of disk morphogenesis.
Clarke G, Goldberg AF, Vidgen D, Collins L, Ploder L, Schwarz L, Molday LL, Rossant J, Szel A, Molday RS, Birch DG, McInnes RR.
Nat Genet 25(1):67-73. 2000
Disulfide-mediated oligomerization of Peripherin/Rds and Rom-1 in photoreceptor disk membranes. Implications for photoreceptor outer segment morphogenesis and degeneration.
Loewen CJ, Molday RS.
J Biol Chem 275(8):5370-8. 2000
Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration.
Kramer F, White K, Pauleikhoff D, Gehrig A, Passmore L, Rivera A, Rudolph G, Kellner U, Andrassi M, Lorenz B, Rohrschneider K, Blankenagel A, Jurklies B, Schilling H, Schutt F, Holz FG, Weber BH.
Eur J Hum Genet 8(4):286-92. 2000
Restoration of photoreceptor ultrastructure and function in retinal degeneration slow mice by gene therapy
Ali, R. R.; Sarra, G.-M.; Stephens, C.; de Alwis, M.; Bainbridge, J. W. B.; Munro, P. M.; Fauser, S.; Reichell, M. B.; Kinnon, C.; Hunt, D. M.; Bhattacharya, S. S.; Thrasher, A. J.
Nature Genet. 25: 306-310 2000
Analysis of the rds/peripherin.rom1 complex in transgenic photoreceptors that express a chimeric protein.
Kedzierski W, Weng J, Travis GH.
J Biol Chem 274(41):29181-7. 1999
Fine mapping of the autosomal recessive polycystic kidney disease locus (PKHD1) and the genes MUT, RDS, CSNK2 beta, and GSTA1 at 6p21.1-p12.
Mucher G, Becker J, Knapp M, Buttner R, Moser M, Rudnik-Schoneborn S, Somlo S, Germino G, Onuchic L, Avner E, Guay-Woodford L, Zerres K.
Genomics 48(1):40-5. 1998
A Swedish family with a mutation in the peripherin/RDS gene (Arg-172-Trp) associated with a progressive retinal degeneration.
Ekstrom U, Andreasson S, Ponjavic V, Abrahamson M, Sandgren O, Nilsson-Ehle P, Ehinger B.
Ophthalmic Genet 19(3):149-56. 1998
37PRPH2, RP7
Identification of a polymorphic missense (G338D) and silent (106V and 121L) mutations within the coding region of the peripherin/RDS gene in a patient with retinitis punctata albescens.
Shastry BS, et al.
Biochem Biophys Res Commun 231 : 103-105. 1997
RDS/peripherin gene mutations are frequent causes of central retinal dystrophies.
Kohl S, Christ-Adler M, Apfelstedt-Sylla E, Kellner U, Eckstein A, Zrenner E, Wissinger B.
J Med Genet 34(8):620-6. 1997
39PRPH2, ROM1, RP7
Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa.
Dryja TP, Hahn LB, Kajiwara K, Berson EL.
Invest Ophthalmol Vis Sci 38(10):1972-82. 1997
Adult vitelliform macular dystrophy is frequently associated with mutations in the peripherin/RDS gene.
Felbor U, Schilling H, Weber BH.
Hum Mutat 10(4):301-9. 1997
A complex allele (1064delTC and IVS2+22ins7) in the peripherin/RDS gene in retinitis pigmentosa with macular dystrophy.
Bareil C, Hamel C, Arnaud B, Demaille J, Claustres M.
Ophthalmic Genet 18(3):129-38. 1997
Deletion in the peripherin/RDS gene in two unrelated Sardinian families with autosomal dominant butterfly-shaped macular dystrophy.
Fossarello M, Bertini C, Galantuomo MS, Cao A, Serra A, Pirastu M.
Arch Ophthalmol 114 : 448-456. 1996
43PRPH2, RP7
Mutations and polymorphisms in the human peripherin-RDS gene and their involvement in inherited retinal degeneration.
Keen TJ, et al.
Hum Mutat 8 : 297-303. 1996
44PRPH2, RP7
Novel rhodopsin mutation (M216R) in a Danish family with autosomal dominant retinitis pigmentosa.
Haim M, et al.
Ophthalmic Genet 17 : 193-197. 1996
Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.
Piguet B, et al.
Ophthalmic Genet 17 : 175-186. 1996
46PRPH2, RP7
Photoreceptor function in heterozygotes with insertion or deletion mutations in the RDS gene.
Jacobson SG, et al.
Invest Ophthalmol Vis Sci 37 : 1662-1674. 1996
47RP7, PRPH2
Retinitis pigmentosa associated with a dominant mutation in codon 46 of the peripherin/RDS gene (arginine-46-stop).
Lam BL, et al.
Am J Ophthalmol 119 : 65-71. 1995
A peripherin/retinal degeneration slow mutation (Pro-210-Arg) associated with macular and peripheral retinal degeneration.
Gorin MB, Jackson KE, Ferrell RE, Sheffield VC, Jacobson SG, Gass JD, Mitchell E, Stone EM.
Ophthalmology 102 : 246-255. 1995
49RP7, PRPH2
Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.
Kim RY, et al.
Arch Ophthalmol 113 : 451-455. 1995
Retinal pattern dystrophy associated with a 4 bp insertion at codon 140 in the RDS-peripherin gene.
Keen TJ, Inglehearn CF, Kim R, Bird AC, Bhattacharya S.
Hum Mol Genet 3 : 367-368. 1994
A novel mutation (Asn244Lys) in the peripherin/RDS gene causing autosomal dominant retinitis pigmentosa associated with bull's-eye maculopathy detected by nonradioisotopic SSCP.
Kikawa E, Nakazawa M, Chida Y, Shiono T, Tamai M.
Genomics 20 : 137-139. 1994
52RP7, PRPH2
Mutations in the human peripherin/RDS gene associated with autosomal dominant retinitis pigmentosa.
Grčning G, et al.
Hum Mutat 3 : 321-323. 1994
Macular dystrophy associated with mutations at codon 172 in the human retinal degeneration slow gene.
Wroblewski JJ, Wells JA 3rd, Eckstein A, Fitzke F, Jubb C, Keen TJ, Inglehearn C, Bhattacharya S, Arden GB, Jay M, et al.
Ophthalmology 101 : 12-22. 1994
54ROM1, PRPH2, RP7
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci.
Kajiwara K, et al.
Science 264 : 1604-1608. 1994
Asn244His mutation of the peripherin/RDS gene causing autosomal dominant cone-rod degeneration.
Nakazawa M, Kikawa E, Chida Y, Tamai M.
Hum Mol Genet 3 : 1195-1196. 1994
56RP7, PRPH2
A novel Cys-214-Ser mutation in the peripherin/RDS gene in a Japanese family with autosomal dominant retinitis pigmentosa.
Saga M, et al.
Hum Genet 92 : 519-521. 1993
57RP7, PRPH2
Heterozygous 'null allele' mutation in the human peripherin/RDS gene.
Meins M, et al.
Hum Mol Genet 2 : 2181-2182. 1993
A null mutation in the human peripherin/RDS gene in a family with autosomal dominant retinitis punctata albescens.
Kajiwara K, et al.
Nat Genet 3 : 208-212. 1993
Mutations in the human retinal degeneration slow (RDS) gene can cause either retinitis pigmentosa or macular dystrophy.
Wells J, et al.
Nat Genet 3 : 213-217. 1993
60RP14, PRPH2, MDBS1
Butterfly-shaped pigment dystrophy of the fovea caused by a point mutation in codon 167 of the RDS gene.
Nichols BE, et al.
Nat Genet 3 : 202-207. 1993
A 2 base pair deletion in the RDS gene associated with butterfly-shapedpigment dystrophy of the fovea.
Nichols BE, Drack AV, Vandenburgh K, Kimura AE, Sheffield VC, Stone EM.
Hum Mol Genet 2 : 601-603. 1993
62RP7, PRPH2
Mutations in peripherin/RDS in patients with retinitis pigmentosa : a 12 base-pair deletion in exon 2.
Gannon AM, et al.
Am J Hum Genet 53 : 1160. 1993
63PRPH2, RP7
Autosomal dominant retinitis pigmentosa (adRP;RP6): cosegregation of RP6 and peripherin-RDS locus in a late-onset family of Irish origin.
Jordan SA, et al.
Am J Hum Genet 50 : 634-639. 1992
64RP7, PRPH2
Screening for mutations in the peripherin gene of patients with autosomal dominant retinitis pigmentosa.
Grčning G, et al.
Am J Hum Genet 51 : A96. 1992
65RP7, PRPH2
Autosomal dominant retinitis pigmentosa : a novel mutation at the peripherin/RDS locus in the original 6p-linked pedigree.
Farrar GJ, et al.
Genomics 14 : 805-807. 1992
The human retinal degeneration slow (RDS) gene: chromosome assignment and structure of the mRNA.
Travis GH, et al.
Genomics 10 : 733-739. 1991
Photoreceptor peripherin is the normal product of the gene responsible for retinal degeneration in the rds mouse.
Connell G, et al.
Proc Natl Acad Sci U S A 88 : 723-726. 1991
Three polymorphisms detected by a retinal degeneration slow (rds) probe.
Kojis TL, et al.
Nucleic Acids Res 19 : 5446. 1991
Poly (T/A) polymorphism at the human retinal degeneration slow (RDS) locus.
Kumar-Singh R, et al.
Nucleic Acids Res 19 : 5800. 1991
A sequence polymorphism in the human peripherin/RDS gene.
Farrar GJ, et al.
Nucleic Acids Res 19 : 6982. 1991
The retinal degeneration slow (rds) gene product is a photoreceptor disc membrane-associated glycoprotein
Travis, G. H.; Sutcliffe, J. G.; Bok, D.
Neuron 6: 61-70 1991
Absence of receptor outer segments in the retina of rds mutant mice.
Sanyal S, Jansen HG.
Neurosci Lett. 21(1):23-6. 1981