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Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.

Heymann JB, Vijayasarathy C, Huang RK, Dearborn AD, Sieving PA, Steven AC.

J Cell Biol. 2019 Jan 10. pii: jcb.201806148. doi: 10.1083/jcb.201806148. [Epub ahead of print]


Neuroethics for the National Institutes of Health BRAIN Initiative.

Bianchi DW, Cooper JA, Gordon JA, Heemskerk J, Hodes R, Koob GF, Koroshetz WJ, Shurtleff D, Sieving PA, Volkow ND, Churchill JD, Ramos KM.

J Neurosci. 2018 Dec 12;38(50):10583-10585. doi: 10.1523/JNEUROSCI.2091-18.2018. No abstract available.


Translational Retinal Research and Therapies.

Hardcastle AJ, Sieving PA, Sahel JA, Jacobson SG, Cideciyan AV, Flannery JG, Beltran WA, Aguirre GD.

Transl Vis Sci Technol. 2018 Sep 13;7(5):8. doi: 10.1167/tvst.7.5.8. eCollection 2018 Sep.


Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.

Cukras C, Wiley HE, Jeffrey BG, Sen HN, Turriff A, Zeng Y, Vijayasarathy C, Marangoni D, Ziccardi L, Kjellstrom S, Park TK, Hiriyanna S, Wright JF, Colosi P, Wu Z, Bush RA, Wei LL, Sieving PA.

Mol Ther. 2018 Sep 5;26(9):2282-2294. doi: 10.1016/j.ymthe.2018.05.025. Epub 2018 Jul 7.


Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.

Li L, Jiao X, D'Atri I, Ono F, Nelson R, Chan CC, Nakaya N, Ma Z, Ma Y, Cai X, Zhang L, Lin S, Hameed A, Chioza BA, Hardy H, Arno G, Hull S, Khan MI, Fasham J, Harlalka GV, Michaelides M, Moore AT, Coban Akdemir ZH, Jhangiani S, Lupski JR, Cremers FPM, Qamar R, Salman A, Chilton J, Self J, Ayyagari R, Kabir F, Naeem MA, Ali M, Akram J, Sieving PA, Riazuddin S, Baple EL, Riazuddin SA, Crosby AH, Hejtmancik JF.

PLoS Genet. 2018 Aug 29;14(8):e1007504. doi: 10.1371/journal.pgen.1007504. eCollection 2018 Aug.


Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis.

Cukras CA, Huryn LA, Jeffrey BG, Turriff A, Sieving PA.

Invest Ophthalmol Vis Sci. 2018 Jun 1;59(7):2841-2847. doi: 10.1167/iovs.17-23297.


IFT88 mutations identified in individuals with non-syndromic recessive retinal degeneration result in abnormal ciliogenesis.

Chekuri A, Guru AA, Biswas P, Branham K, Borooah S, Soto-Hermida A, Hicks M, Khan NW, Matsui H, Alapati A, Raghavendra PB, Roosing S, Sarangapani S, Mathavan S, Telenti A, Heckenlively JR, Riazuddin SA, Frazer KA, Sieving PA, Ayyagari R.

Hum Genet. 2018 Jul;137(6-7):447-458. doi: 10.1007/s00439-018-1897-9. Epub 2018 Jul 5.


Investigation of the effect of dietary docosahexaenoic acid (DHA) supplementation on macular function in subjects with autosomal recessive Stargardt macular dystrophy.

MacDonald IM, Sieving PA.

Ophthalmic Genet. 2018 Aug;39(4):477-486. doi: 10.1080/13816810.2018.1484931. Epub 2018 Jun 18.


Identification of Novel Deletions as the Underlying Cause of Retinal Degeneration in Two Pedigrees.

Branham K, Guru AA, Kozak I, Biswas P, Othman M, Kishaba K, Mansoor H, Riazuddin S, Heckenlively JR, Riazuddin SA, Hejtmancik JF, Sieving PA, Ayyagari R.

Adv Exp Med Biol. 2018;1074:229-236. doi: 10.1007/978-3-319-75402-4_28.


Optical Coherence Tomography Minimum Intensity as an Objective Measure for the Detection of Hydroxychloroquine Toxicity.

Allahdina AM, Stetson PF, Vitale S, Wong WT, Chew EY, Ferris FL III, Sieving PA, Cukras C.

Invest Ophthalmol Vis Sci. 2018 Apr 1;59(5):1953-1963. doi: 10.1167/iovs.17-22668.


Tissue engineering: NIH competition to create 'eye in a dish'.

Sieving PA.

Nature. 2017 Jun 14;546(7658):352. doi: 10.1038/546352b. No abstract available.


Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani Families.

Li L, Chen Y, Jiao X, Jin C, Jiang D, Tanwar M, Ma Z, Huang L, Ma X, Sun W, Chen J, Ma Y, M'hamdi O, Govindarajan G, Cabrera PE, Li J, Gupta N, Naeem MA, Khan SN, Riazuddin S, Akram J, Ayyagari R, Sieving PA, Riazuddin SA, Hejtmancik JF.

Invest Ophthalmol Vis Sci. 2017 Apr 1;58(4):2218-2238. doi: 10.1167/iovs.17-21424. Erratum in: Invest Ophthalmol Vis Sci. 2017 May 1;58(5):2636.


Establishing the involvement of the novel gene AGBL5 in retinitis pigmentosa by whole genome sequencing.

Branham K, Matsui H, Biswas P, Guru AA, Hicks M, Suk JJ, Li H, Jakubosky D, Long T, Telenti A, Nariai N, Heckenlively JR, Frazer KA, Sieving PA, Ayyagari R.

Physiol Genomics. 2016 Dec 1;48(12):922-927. doi: 10.1152/physiolgenomics.00101.2016. Epub 2016 Oct 7.


Ocular and systemic safety of a recombinant AAV8 vector for X-linked retinoschisis gene therapy: GLP studies in rabbits and Rs1-KO mice.

Marangoni D, Bush RA, Zeng Y, Wei LL, Ziccardi L, Vijayasarathy C, Bartoe JT, Palyada K, Santos M, Hiriyanna S, Wu Z, Colosi P, Sieving PA.

Mol Ther Methods Clin Dev. 2016 Mar 16;5:16011. doi: 10.1038/mtm.2016.11. eCollection 2016.


Retinal Structure and Gene Therapy Outcome in Retinoschisin-Deficient Mice Assessed by Spectral-Domain Optical Coherence Tomography.

Zeng Y, Petralia RS, Vijayasarathy C, Wu Z, Hiriyanna S, Song H, Wang YX, Sieving PA, Bush RA.

Invest Ophthalmol Vis Sci. 2016 Jul 1;57(9):OCT277-87. doi: 10.1167/iovs.15-18920.



Cukras C, Flamendorf J, Wong WT, Ayyagari R, Cunningham D, Sieving PA.

Retina. 2016 Dec;36(12):2348-2356.


NADPH Oxidase Contributes to Photoreceptor Degeneration in Constitutively Active RAC1 Mice.

Song H, Vijayasarathy C, Zeng Y, Marangoni D, Bush RA, Wu Z, Sieving PA.

Invest Ophthalmol Vis Sci. 2016 May 1;57(6):2864-75. doi: 10.1167/iovs.15-18974.


Paired octamer rings of retinoschisin suggest a junctional model for cell-cell adhesion in the retina.

Tolun G, Vijayasarathy C, Huang R, Zeng Y, Li Y, Steven AC, Sieving PA, Heymann JB.

Proc Natl Acad Sci U S A. 2016 May 10;113(19):5287-92. doi: 10.1073/pnas.1519048113. Epub 2016 Apr 25.


Preclinical Dose-Escalation Study of Intravitreal AAV-RS1 Gene Therapy in a Mouse Model of X-linked Retinoschisis: Dose-Dependent Expression and Improved Retinal Structure and Function.

Bush RA, Zeng Y, Colosi P, Kjellstrom S, Hiriyanna S, Vijayasarathy C, Santos M, Li J, Wu Z, Sieving PA.

Hum Gene Ther. 2016 May;27(5):376-89. doi: 10.1089/hum.2015.142.


Basic science: Bedrock of progress.

Collins FS, Anderson JM, Austin CP, Battey JF, Birnbaum LS, Briggs JP, Clayton JA, Cuthbert B, Eisinger RW, Fauci AS, Gallin JI, Gibbons GH, Glass RI, Gottesman MM, Gray PA, Green ED, Greider FB, Hodes R, Hudson KL, Humphreys B, Katz SI, Koob GF, Koroshetz WJ, Lauer MS, Lorsch JR, Lowy DR, McGowan JJ, Murray DM, Nakamura R, Norris A, Perez-Stable EJ, Pettigrew RI, Riley WT, Rodgers GP, Sieving PA, Somerman MJ, Spong CY, Tabak LA, Volkow ND, Wilder EL.

Science. 2016 Mar 25;351(6280):1405. doi: 10.1126/science.351.6280.1405-a. No abstract available.


Intravitreal Ciliary Neurotrophic Factor Transiently Improves Cone-Mediated Function in a CNGB3-/- Mouse Model of Achromatopsia.

Marangoni D, Vijayasarathy C, Bush RA, Wei LL, Wen R, Sieving PA.

Invest Ophthalmol Vis Sci. 2015 Oct;56(11):6810-22. doi: 10.1167/iovs.15-16866.


Convergence of Human Genetics and Animal Studies: Gene Therapy for X-Linked Retinoschisis.

Bush RA, Wei LL, Sieving PA.

Cold Spring Harb Perspect Med. 2015 Jun 22;5(8):a017368. doi: 10.1101/cshperspect.a017368. Review.


Synaptic pathology and therapeutic repair in adult retinoschisis mouse by AAV-RS1 transfer.

Ou J, Vijayasarathy C, Ziccardi L, Chen S, Zeng Y, Marangoni D, Pope JG, Bush RA, Wu Z, Li W, Sieving PA.

J Clin Invest. 2015 Jul 1;125(7):2891-903. doi: 10.1172/JCI81380. Epub 2015 Jun 22.


A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degeneration.

Wu Z, Hiriyanna S, Qian H, Mookherjee S, Campos MM, Gao C, Fariss R, Sieving PA, Li T, Colosi P, Swaroop A.

Hum Mol Genet. 2015 Jul 15;24(14):3956-70. doi: 10.1093/hmg/ddv134. Epub 2015 Apr 15.


Biology and therapy of inherited retinal degenerative disease: insights from mouse models.

Veleri S, Lazar CH, Chang B, Sieving PA, Banin E, Swaroop A.

Dis Model Mech. 2015 Feb;8(2):109-29. doi: 10.1242/dmm.017913. Review.


Subjective and objective screening tests for hydroxychloroquine toxicity.

Cukras C, Huynh N, Vitale S, Wong WT, Ferris FL 3rd, Sieving PA.

Ophthalmology. 2015 Feb;122(2):356-66. doi: 10.1016/j.ophtha.2014.07.056. Epub 2014 Oct 14.


Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

Zein WM, Falsini B, Tsilou ET, Turriff AE, Schultz JM, Friedman TB, Brewer CC, Zalewski CK, King KA, Muskett JA, Rehman AU, Morell RJ, Griffith AJ, Sieving PA.

Invest Ophthalmol Vis Sci. 2014 Nov 25;56(1):107-14. doi: 10.1167/iovs.14-15355.


Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis.

Jeffrey BG, Cukras CA, Vitale S, Turriff A, Bowles K, Sieving PA.

Transl Vis Sci Technol. 2014 Oct 3;3(5):5. eCollection 2014 Sep.


Preclinical safety evaluation of a recombinant AAV8 vector for X-linked retinoschisis after intravitreal administration in rabbits.

Marangoni D, Wu Z, Wiley HE, Zeiss CJ, Vijayasarathy C, Zeng Y, Hiriyanna S, Bush RA, Wei LL, Colosi P, Sieving PA.

Hum Gene Ther Clin Dev. 2014 Dec;25(4):202-11. doi: 10.1089/humc.2014.067.


CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.

Zein WM, Jeffrey BG, Wiley HE, Turriff AE, Tumminia SJ, Tao W, Bush RA, Marangoni D, Wen R, Wei LL, Sieving PA.

Invest Ophthalmol Vis Sci. 2014 Sep 9;55(10):6301-8. doi: 10.1167/iovs.14-14860.


X-Linked Juvenile Retinoschisis.

Sieving PA, MacDonald IM, Chan S.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2003 Oct 24 [updated 2014 Aug 28].


Photoreceptor pathology in the X-linked retinoschisis (XLRS) mouse results in delayed rod maturation and impaired light driven transducin translocation.

Ziccardi L, Vijayasarathy C, Bush RA, Sieving PA.

Adv Exp Med Biol. 2014;801:559-66. doi: 10.1007/978-1-4614-3209-8_71.


Transgenic expression of constitutively active RAC1 disrupts mouse rod morphogenesis.

Song H, Bush RA, Vijayasarathy C, Fariss RN, Kjellstrom S, Sieving PA.

Invest Ophthalmol Vis Sci. 2014 Apr 25;55(4):2659-68. doi: 10.1167/iovs.13-13649.


AIPL1 implicated in the pathogenesis of two cases of autosomal recessive retinal degeneration.

Li D, Jin C, Jiao X, Li L, Bushra T, Naeem MA, Butt NH, Husnain T, Sieving PA, Riazuddin S, Riazuddin SA, Hejtmancik JF.

Mol Vis. 2014 Jan 6;20:1-14. eCollection 2014.


Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.

Huynh N, Jeffrey BG, Turriff A, Sieving PA, Cukras CA.

Ophthalmic Genet. 2014 Mar;35(1):51-6. doi: 10.3109/13816810.2013.865762. Epub 2014 Jan 7.


Mutations in the small nuclear riboprotein 200 kDa gene (SNRNP200) cause 1.6% of autosomal dominant retinitis pigmentosa.

Bowne SJ, Sullivan LS, Avery CE, Sasser EM, Roorda A, Duncan JL, Wheaton DH, Birch DG, Branham KE, Heckenlively JR, Sieving PA, Daiger SP.

Mol Vis. 2013 Nov 24;19:2407-17. eCollection 2013.


Characterization of novel RS1 exonic deletions in juvenile X-linked retinoschisis.

D'Souza L, Cukras C, Antolik C, Craig C, Lee JY, He H, Li S, Smaoui N, Hejtmancik JF, Sieving PA, Wang X.

Mol Vis. 2013 Nov 7;19:2209-16. eCollection 2013.


Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy.

Kabir F, Naz S, Riazuddin SA, Naeem MA, Khan SN, Husnain T, Akram J, Sieving PA, Hejtmancik JF, Riazuddin S.

Mol Vis. 2013 Jul 19;19:1554-64. Print 2013.


Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Sergeev YV, Vitale S, Sieving PA, Vincent A, Robson AG, Moore AT, Webster AR, Holder GE.

Hum Mol Genet. 2013 Dec 1;22(23):4756-67. doi: 10.1093/hmg/ddt329. Epub 2013 Jul 11.


The golden era of ocular disease gene discovery: race to the finish.

Swaroop A, Sieving PA.

Clin Genet. 2013 Aug;84(2):99-101. doi: 10.1111/cge.12204. Review.


Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

Zahid S, Khan N, Branham K, Othman M, Karoukis AJ, Sharma N, Moncrief A, Mahmood MN, Sieving PA, Swaroop A, Heckenlively JR, Jayasundera T.

JAMA Ophthalmol. 2013 Aug;131(8):1016-25. doi: 10.1001/jamaophthalmol.2013.120.


Exome analysis identified a novel mutation in the RBP4 gene in a consanguineous pedigree with retinal dystrophy and developmental abnormalities.

Cukras C, Gaasterland T, Lee P, Gudiseva HV, Chavali VR, Pullakhandam R, Maranhao B, Edsall L, Soares S, Reddy GB, Sieving PA, Ayyagari R.

PLoS One. 2012;7(11):e50205. doi: 10.1371/journal.pone.0050205. Epub 2012 Nov 26.


Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease.

Branham K, Othman M, Brumm M, Karoukis AJ, Atmaca-Sonmez P, Yashar BM, Schwartz SB, Stover NB, Trzupek K, Wheaton D, Jennings B, Ciccarelli ML, Jayasundera KT, Lewis RA, Birch D, Bennett J, Sieving PA, Andreasson S, Duncan JL, Fishman GA, Iannaccone A, Weleber RG, Jacobson SG, Heckenlively JR, Swaroop A.

Invest Ophthalmol Vis Sci. 2012 Dec 13;53(13):8232-7. doi: 10.1167/iovs.12-11025.


NEI audacious goals initiative to catalyze innovation.

Sieving PA.

Invest Ophthalmol Vis Sci. 2012 Oct 9;53(11):7149-50. doi: 10.1167/iovs.12-11069. Print 2012 Oct. No abstract available.


GNAT1 associated with autosomal recessive congenital stationary night blindness.

Naeem MA, Chavali VR, Ali S, Iqbal M, Riazuddin S, Khan SN, Husnain T, Sieving PA, Ayyagari R, Riazuddin S, Hejtmancik JF, Riazuddin SA.

Invest Ophthalmol Vis Sci. 2012 Mar 13;53(3):1353-61. doi: 10.1167/iovs.11-8026. Print 2012 Mar.


Biology of retinoschisin.

Vijayasarathy C, Ziccardi L, Sieving PA.

Adv Exp Med Biol. 2012;723:513-8. doi: 10.1007/978-1-4614-0631-0_64. Review. No abstract available.


CNTF and retina.

Wen R, Tao W, Li Y, Sieving PA.

Prog Retin Eye Res. 2012 Mar;31(2):136-51. doi: 10.1016/j.preteyeres.2011.11.005. Epub 2011 Dec 10. Review.


X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.

Bowles K, Cukras C, Turriff A, Sergeev Y, Vitale S, Bush RA, Sieving PA.

Invest Ophthalmol Vis Sci. 2011 Nov 29;52(12):9250-6. doi: 10.1167/iovs.11-8115.


Association of pathogenic mutations in TULP1 with retinitis pigmentosa in consanguineous Pakistani families.

Iqbal M, Naeem MA, Riazuddin SA, Ali S, Farooq T, Qazi ZA, Khan SN, Husnain T, Riazuddin S, Sieving PA, Hejtmancik JF, Riazuddin S.

Arch Ophthalmol. 2011 Oct;129(10):1351-7. doi: 10.1001/archophthalmol.2011.267.

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