PubMed

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

Audo I, Kohl S, Leroy BP, Munier FL, Guillonneau X, Mohand-Saïd S, Bujakowska K, Nandrot EF, Lorenz B, Preising M, Kellner U, Renner AB, Bernd A, Antonio A, Moskova-Doumanova V, Lancelot ME, Poloschek CM, Drumare I, Defoort-Dhellemmes S, Wissinger B, Léveillard T, Hamel CP, Schorderet DF, De Baere E, Berger W, Jacobson SG, Zrenner E, Sahel JA, Bhattacharya SS, Zeitz C.

Am J Hum Genet. 2009 Nov;85(5):720-9. Epub 2009 Nov 5.PMID: 19896113 [PubMed - in process]Related articles

Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II.

Yan D, Ouyang X, Patterson DM, Du LL, Jacobson SG, Liu XZ.

J Hum Genet. 2009 Oct 30. [Epub ahead of print]PMID: 19881469 [PubMed - as supplied by publisher]Related articles

Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa.

Davidson AE, Millar ID, Urquhart JE, Burgess-Mullan R, Shweikh Y, Parry N, O'Sullivan J, Maher GJ, McKibbin M, Downes SM, Lotery AJ, Jacobson SG, Brown PD, Black GC, Manson FD.

Am J Hum Genet. 2009 Nov;85(5):581-92. Epub 2009 Oct 22.PMID: 19853238 [PubMed - in process]Related articles

Subconjunctivally implantable hydrogels with degradable and thermoresponsive properties for sustained release of insulin to the retina.

Misra GP, Singh RS, Aleman TS, Jacobson SG, Gardner TW, Lowe TL.

Biomaterials. 2009 Nov;30(33):6541-7. Epub 2009 Aug 25.PMID: 19709741 [PubMed - in process]Related articles

Vision 1 year after gene therapy for Leber's congenital amaurosis.

Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EA, Conlon TJ, Sumaroka A, Roman AJ, Byrne BJ, Jacobson SG.

N Engl J Med. 2009 Aug 13;361(7):725-7. No abstract available. PMID: 19675341 [PubMed - indexed for MEDLINE]Related articles

Human RPE65 gene therapy for Leber congenital amaurosis: persistence of early visual improvements and safety at 1 year.

Cideciyan AV, Hauswirth WW, Aleman TS, Kaushal S, Schwartz SB, Boye SL, Windsor EA, Conlon TJ, Sumaroka A, Pang JJ, Roman AJ, Byrne BJ, Jacobson SG.

Hum Gene Ther. 2009 Sep;20(9):999-1004.PMID: 19583479 [PubMed - in process]Related articles

CERKL Mutations Cause an Autosomal Recessive Cone-Rod Dystrophy With Inner Retinopathy.

Aleman T, Soumittra N, Cideciyan AV, Sumaroka A, Ramprasad V, Herrera W, Windsor EA, Schwartz SB, Russell RC, Roman AJ, Inglehearn CF, Kumaramanickavel G, Stone EM, Fishman GA, Jacobson SG.

Invest Ophthalmol Vis Sci. 2009 Jul 2. [Epub ahead of print]PMID: 19578027 [PubMed - as supplied by publisher]Related articles

Leber congenital amaurosis caused by Lebercilin (LCA5) mutation: retained photoreceptors adjacent to retinal disorganization.

Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Swider M, Herrera W, Stone EM.

Mol Vis. 2009 Jun 2;15:1098-106.PMID: 19503738 [PubMed - indexed for MEDLINE]Related articlesFree article

Predicting the pathogenicity of RPE65 mutations.

Philp AR, Jin M, Li S, Schindler EI, Iannaccone A, Lam BL, Weleber RG, Fishman GA, Jacobson SG, Mullins RF, Travis GH, Stone EM.

Hum Mutat. 2009 Aug;30(8):1183-8.PMID: 19431183 [PubMed - indexed for MEDLINE]Related articles

A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.

Khanna H, Davis EE, Murga-Zamalloa CA, Estrada-Cuzcano A, Lopez I, den Hollander AI, Zonneveld MN, Othman MI, Waseem N, Chakarova CF, Maubaret C, Diaz-Font A, Macdonald I, Muzny DM, Wheeler DA, Morgan M, Lewis LR, Logan CV, Tan PL, Beer MA, Inglehearn CF, Lewis RA, Jacobson SG, Bergmann C, Beales PL, Attié-Bitach T, Johnson CA, Otto EA, Bhattacharya SS, Hildebrandt F, Gibbs RA, Koenekoop RK, Swaroop A, Katsanis N.

Nat Genet. 2009 Jun;41(6):739-45. Epub 2009 May 10.PMID: 19430481 [PubMed - in process]Related articles

Loss of the metalloprotease ADAM9 leads to cone-rod dystrophy in humans and retinal degeneration in mice.

Parry DA, Toomes C, Bida L, Danciger M, Towns KV, McKibbin M, Jacobson SG, Logan CV, Ali M, Bond J, Chance R, Swendeman S, Daniele LL, Springell K, Adams M, Johnson CA, Booth AP, Jafri H, Rashid Y, Banin E, Strom TM, Farber DB, Sharon D, Blobel CP, Pugh EN Jr, Pierce EA, Inglehearn CF.

Am J Hum Genet. 2009 May;84(5):683-91. Epub 2009 Apr 30.PMID: 19409519 [PubMed - indexed for MEDLINE]Related articlesFree article

Loss of cone photoreceptors caused by chromophore depletion is partially prevented by the artificial chromophore pro-drug, 9-cis-retinyl acetate.

Maeda T, Cideciyan AV, Maeda A, Golczak M, Aleman TS, Jacobson SG, Palczewski K.

Hum Mol Genet. 2009 Jun 15;18(12):2277-87. Epub 2009 Apr 1.PMID: 19339306 [PubMed - indexed for MEDLINE]Related articles

Retinal pigment epithelium defects in humans and mice with mutations in MYO7A: imaging melanosome-specific autofluorescence.

Gibbs D, Cideciyan AV, Jacobson SG, Williams DS.

Invest Ophthalmol Vis Sci. 2009 Sep;50(9):4386-93. Epub 2009 Mar 25.PMID: 19324852 [PubMed - indexed for MEDLINE]Related articles

Harmonin in the murine retina and the retinal phenotypes of Ush1c-mutant mice and human USH1C.

Williams DS, Aleman TS, Lillo C, Lopes VS, Hughes LC, Stone EM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2009 Aug;50(8):3881-9. Epub 2009 Mar 25.PMID: 19324851 [PubMed - indexed for MEDLINE]Related articles

Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations.

Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.

Invest Ophthalmol Vis Sci. 2009 May;50(5):2368-75. Epub 2008 Dec 30.PMID: 19117922 [PubMed - indexed for MEDLINE]Related articlesFree article

Disease boundaries in the retina of patients with Usher syndrome caused by MYO7A gene mutations.

Jacobson SG, Aleman TS, Sumaroka A, Cideciyan AV, Roman AJ, Windsor EA, Schwartz SB, Rehm HL, Kimberling WJ.

Invest Ophthalmol Vis Sci. 2009 Apr;50(4):1886-94. Epub 2008 Dec 13.PMID: 19074810 [PubMed - indexed for MEDLINE]Related articles

ABCA4 disease progression and a proposed strategy for gene therapy.

Cideciyan AV, Swider M, Aleman TS, Tsybovsky Y, Schwartz SB, Windsor EA, Roman AJ, Sumaroka A, Steinberg JD, Jacobson SG, Stone EM, Palczewski K.

Hum Mol Genet. 2009 Mar 1;18(5):931-41. Epub 2008 Dec 12.PMID: 19074458 [PubMed - indexed for MEDLINE]Related articles

Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics.

Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang JJ, Sumaroka A, Windsor EA, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW.

Proc Natl Acad Sci U S A. 2008 Sep 30;105(39):15112-7. Epub 2008 Sep 22.PMID: 18809924 [PubMed - indexed for MEDLINE]Related articlesFree article

Treatment of leber congenital amaurosis due to RPE65 mutations by ocular subretinal injection of adeno-associated virus gene vector: short-term results of a phase I trial.

Hauswirth WW, Aleman TS, Kaushal S, Cideciyan AV, Schwartz SB, Wang L, Conlon TJ, Boye SL, Flotte TR, Byrne BJ, Jacobson SG.

Hum Gene Ther. 2008 Oct;19(10):979-90.PMID: 18774912 [PubMed - indexed for MEDLINE]Related articles

Genetic heterogeneity in autosomal dominant retinitis pigmentosa with low-frequency damped electroretinographic wavelets.

Aleman TS, Lam BL, Cideciyan AV, Sumaroka A, Windsor EA, Roman AJ, Schwartz SB, Stone EM, Jacobson SG.

Eye (Lond). 2009 Jan;23(1):230-3. Epub 2008 Aug 15.PMID: 18704120 [PubMed - indexed for MEDLINE]Related articles

Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM.

Invest Ophthalmol Vis Sci. 2008 Oct;49(10):4573-7. Epub 2008 Jun 6.PMID: 18539930 [PubMed - indexed for MEDLINE]Related articlesFree article

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Roman AJ, Gardner LM, Prosser HM, Mishra M, Bech-Hansen NT, Herrera W, Schwartz SB, Liu XZ, Kimberling WJ, Steel KP, Williams DS.

Hum Mol Genet. 2008 Aug 1;17(15):2405-15. Epub 2008 May 7.PMID: 18463160 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinal laminar architecture in human retinitis pigmentosa caused by Rhodopsin gene mutations.

Aleman TS, Cideciyan AV, Sumaroka A, Windsor EA, Herrera W, White DA, Kaushal S, Naidu A, Roman AJ, Schwartz SB, Stone EM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Apr;49(4):1580-90.PMID: 18385078 [PubMed - indexed for MEDLINE]Related articlesFree article

ABCA4 gene analysis in patients with autosomal recessive cone and cone rod dystrophies.

Kitiratschky VB, Grau T, Bernd A, Zrenner E, Jägle H, Renner AB, Kellner U, Rudolph G, Jacobson SG, Cideciyan AV, Schaich S, Kohl S, Wissinger B.

Eur J Hum Genet. 2008 Jul;16(7):812-9. Epub 2008 Feb 20.PMID: 18285826 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinal disease in Usher syndrome III caused by mutations in the clarin-1 gene.

Herrera W, Aleman TS, Cideciyan AV, Roman AJ, Banin E, Ben-Yosef T, Gardner LM, Sumaroka A, Windsor EA, Schwartz SB, Stone EM, Liu XZ, Kimberling WJ, Jacobson SG.

Invest Ophthalmol Vis Sci. 2008 Jun;49(6):2651-60. Epub 2008 Feb 15.PMID: 18281613 [PubMed - indexed for MEDLINE]Related articlesFree article

Electroretinographic analyses of Rpe65-mutant rd12 mice: developing an in vivo bioassay for human gene therapy trials of Leber congenital amaurosis.

Roman AJ, Boye SL, Aleman TS, Pang JJ, McDowell JH, Boye SE, Cideciyan AV, Jacobson SG, Hauswirth WW.

Mol Vis. 2007 Sep 18;13:1701-10.PMID: 17960108 [PubMed - indexed for MEDLINE]Related articlesFree article

Inner retinal abnormalities in X-linked retinitis pigmentosa with RPGR mutations.

Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Steinberg JD, Branham K, Othman M, Swaroop A, Jacobson SG.

Invest Ophthalmol Vis Sci. 2007 Oct;48(10):4759-65.PMID: 17898302 [PubMed - indexed for MEDLINE]Related articlesFree article

Human cone photoreceptor dependence on RPE65 isomerase.

Jacobson SG, Aleman TS, Cideciyan AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Wilson JM, Aguirre GD, Stone EM, Palczewski K.

Proc Natl Acad Sci U S A. 2007 Sep 18;104(38):15123-8. Epub 2007 Sep 11.PMID: 17848510 [PubMed - indexed for MEDLINE]Related articlesFree article

Full-field stimulus testing (FST) to quantify visual perception in severely blind candidates for treatment trials.

Roman AJ, Cideciyan AV, Aleman TS, Jacobson SG.

Physiol Meas. 2007 Aug;28(8):N51-6. Epub 2007 Jul 6.PMID: 17664667 [PubMed - indexed for MEDLINE]Related articles

Canine and human visual cortex intact and responsive despite early retinal blindness from RPE65 mutation.

Aguirre GK, Komáromy AM, Cideciyan AV, Brainard DH, Aleman TS, Roman AJ, Avants BB, Gee JC, Korczykowski M, Hauswirth WW, Acland GM, Aguirre GD, Jacobson SG.

PLoS Med. 2007 Jun;4(6):e230.PMID: 17594175 [PubMed - indexed for MEDLINE]Related articlesFree article

Centrosomal-ciliary gene CEP290/NPHP6 mutations result in blindness with unexpected sparing of photoreceptors and visual brain: implications for therapy of Leber congenital amaurosis.

Cideciyan AV, Aleman TS, Jacobson SG, Khanna H, Sumaroka A, Aguirre GK, Schwartz SB, Windsor EA, He S, Chang B, Stone EM, Swaroop A.

Hum Mutat. 2007 Nov;28(11):1074-83.PMID: 17554762 [PubMed - indexed for MEDLINE]Related articles

Evidence for retinal remodelling in retinitis pigmentosa caused by PDE6B mutation.

Jacobson SG, Sumaroka A, Aleman TS, Cideciyan AV, Danciger M, Farber DB.

Br J Ophthalmol. 2007 May;91(5):699-701. No abstract available. PMID: 17446517 [PubMed - indexed for MEDLINE]Related articles

Reduced-illuminance autofluorescence imaging in ABCA4-associated retinal degenerations.

Cideciyan AV, Swider M, Aleman TS, Roman MI, Sumaroka A, Schwartz SB, Stone EM, Jacobson SG.

J Opt Soc Am A Opt Image Sci Vis. 2007 May;24(5):1457-67.PMID: 17429493 [PubMed - indexed for MEDLINE]Related articlesFree article

Macular pigment and lutein supplementation in ABCA4-associated retinal degenerations.

Aleman TS, Cideciyan AV, Windsor EA, Schwartz SB, Swider M, Chico JD, Sumaroka A, Pantelyat AY, Duncan KG, Gardner LM, Emmons JM, Steinberg JD, Stone EM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2007 Mar;48(3):1319-29.PMID: 17325179 [PubMed - indexed for MEDLINE]Related articlesFree article

Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potential.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Roman AJ, Stone EM.

Ophthalmology. 2007 May;114(5):895-8. Epub 2007 Feb 16.PMID: 17306875 [PubMed - indexed for MEDLINE]Related articles

Biochemical characterisation of the C1QTNF5 gene associated with late-onset retinal degeneration. A genetic model of age-related macular degeneration.

Shu X, Tulloch B, Lennon A, Hayward C, O'Connell M, Cideciyan AV, Jacobson SG, Wright AF.

Adv Exp Med Biol. 2006;572:41-8. No abstract available. PMID: 17249553 [PubMed - indexed for MEDLINE]Related articles

RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression.

Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EA, Roman AJ, Heon E, Stone EM, Thompson DA.

Invest Ophthalmol Vis Sci. 2007 Jan;48(1):332-8.PMID: 17197551 [PubMed - indexed for MEDLINE]Related articlesFree article

Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration.

Friedman JS, Chang B, Kannabiran C, Chakarova C, Singh HP, Jalali S, Hawes NL, Branham K, Othman M, Filippova E, Thompson DA, Webster AR, Andréasson S, Jacobson SG, Bhattacharya SS, Heckenlively JR, Swaroop A.

Am J Hum Genet. 2006 Dec;79(6):1059-70. Epub 2006 Oct 23. Erratum in: Am J Hum Genet. 2007 Feb;80(2):388. PMID: 17186464 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinal disease expression in Bardet-Biedl syndrome-1 (BBS1) is a spectrum from maculopathy to retina-wide degeneration.

Azari AA, Aleman TS, Cideciyan AV, Schwartz SB, Windsor EA, Sumaroka A, Cheung AY, Steinberg JD, Roman AJ, Stone EM, Sheffield VC, Jacobson SG.

Invest Ophthalmol Vis Sci. 2006 Nov;47(11):5004-10.PMID: 17065520 [PubMed - indexed for MEDLINE]Related articlesFree article

Safety in nonhuman primates of ocular AAV2-RPE65, a candidate treatment for blindness in Leber congenital amaurosis.

Jacobson SG, Boye SL, Aleman TS, Conlon TJ, Zeiss CJ, Roman AJ, Cideciyan AV, Schwartz SB, Komaromy AM, Doobrajh M, Cheung AY, Sumaroka A, Pearce-Kelling SE, Aguirre GD, Kaushal S, Maguire AM, Flotte TR, Hauswirth WW.

Hum Gene Ther. 2006 Aug;17(8):845-58.PMID: 16942444 [PubMed - indexed for MEDLINE]Related articles

Remodeling of the human retina in choroideremia: rab escort protein 1 (REP-1) mutations.

Jacobson SG, Cideciyan AV, Sumaroka A, Aleman TS, Schwartz SB, Windsor EA, Roman AJ, Stone EM, MacDonald IM.

Invest Ophthalmol Vis Sci. 2006 Sep;47(9):4113-20.PMID: 16936131 [PubMed - indexed for MEDLINE]Related articlesFree article

In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development.

Cheng H, Aleman TS, Cideciyan AV, Khanna R, Jacobson SG, Swaroop A.

Hum Mol Genet. 2006 Sep 1;15(17):2588-602. Epub 2006 Jul 25.PMID: 16868010 [PubMed - indexed for MEDLINE]Related articlesFree article

Lentiviral expression of retinal guanylate cyclase-1 (RetGC1) restores vision in an avian model of childhood blindness.

Williams ML, Coleman JE, Haire SE, Aleman TS, Cideciyan AV, Sokal I, Palczewski K, Jacobson SG, Semple-Rowland SL.

PLoS Med. 2006 Jun;3(6):e201. Epub 2006 May 23.PMID: 16700630 [PubMed - indexed for MEDLINE]Related articlesFree article

Safety of recombinant adeno-associated virus type 2-RPE65 vector delivered by ocular subretinal injection.

Jacobson SG, Acland GM, Aguirre GD, Aleman TS, Schwartz SB, Cideciyan AV, Zeiss CJ, Komaromy AM, Kaushal S, Roman AJ, Windsor EA, Sumaroka A, Pearce-Kelling SE, Conlon TJ, Chiodo VA, Boye SL, Flotte TR, Maguire AM, Bennett J, Hauswirth WW.

Mol Ther. 2006 Jun;13(6):1074-84. Epub 2006 Apr 27.PMID: 16644289 [PubMed - indexed for MEDLINE]Related articles

ABCA4-associated retinal degenerations spare structure and function of the human parapapillary retina.

Cideciyan AV, Swider M, Aleman TS, Sumaroka A, Schwartz SB, Roman MI, Milam AH, Bennett J, Stone EM, Jacobson SG.

Invest Ophthalmol Vis Sci. 2005 Dec;46(12):4739-46.PMID: 16303974 [PubMed - indexed for MEDLINE]Related articlesFree article

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Thompson DA, Janecke AR, Lange J, Feathers KL, Hübner CA, McHenry CL, Stockton DW, Rammesmayer G, Lupski JR, Antinolo G, Ayuso C, Baiget M, Gouras P, Heckenlively JR, den Hollander A, Jacobson SG, Lewis RA, Sieving PA, Wissinger B, Yzer S, Zrenner E, Utermann G, Gal A.

Hum Mol Genet. 2005 Dec 15;14(24):3865-75. Epub 2005 Nov 3. Erratum in: Hum Mol Genet. 2006 May 1;15(9):1559. PMID: 16269441 [PubMed - indexed for MEDLINE]Related articlesFree article

Long-term restoration of rod and cone vision by single dose rAAV-mediated gene transfer to the retina in a canine model of childhood blindness.

Acland GM, Aguirre GD, Bennett J, Aleman TS, Cideciyan AV, Bennicelli J, Dejneka NS, Pearce-Kelling SE, Maguire AM, Palczewski K, Hauswirth WW, Jacobson SG.

Mol Ther. 2005 Dec;12(6):1072-82. Epub 2005 Oct 14.PMID: 16226919 [PubMed - indexed for MEDLINE]Related articles

Outcome measures and their application in clinical trials for retinal degenerative diseases: outline, review, and perspective.

Fishman GA, Jacobson SG, Alexander KR, Cideciyan AV, Birch DG, Weleber RG, Hood DC.

Retina. 2005 Sep;25(6):772-7. Review. No abstract available. PMID: 16141867 [PubMed - indexed for MEDLINE]Related articles

Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success.

Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J.

Proc Natl Acad Sci U S A. 2005 Apr 26;102(17):6177-82. Epub 2005 Apr 18.PMID: 15837919 [PubMed - indexed for MEDLINE]Related articlesFree article

Nonhuman primate models for diabetic ocular neovascularization using AAV2-mediated overexpression of vascular endothelial growth factor.

Lebherz C, Maguire AM, Auricchio A, Tang W, Aleman TS, Wei Z, Grant R, Cideciyan AV, Jacobson SG, Wilson JM, Bennett J.

Diabetes. 2005 Apr;54(4):1141-9.PMID: 15793254 [PubMed - indexed for MEDLINE]Related articlesFree article