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Items: 1 to 20 of 142


The Y227N mutation affects bestrophin-1 protein stability and impairs sperm function in a mouse model of Best vitelliform macular dystrophy.

Milenkovic A, Schmied D, Tanimoto N, Seeliger MW, Sparrow JR, Weber BHF.

Biol Open. 2019 Jul 2;8(7). pii: bio041335. doi: 10.1242/bio.041335.


Spectrum of Disease Severity and Phenotype in Choroideremia Carriers.

Jauregui R, Park KS, Tanaka AJ, Cho A, Paavo M, Zernant J, Francis JH, Allikmets R, Sparrow JR, Tsang SH.

Am J Ophthalmol. 2019 Jun 7. pii: S0002-9394(19)30269-7. doi: 10.1016/j.ajo.2019.06.002. [Epub ahead of print]


Multimodal Imaging in Best Vitelliform Macular Dystrophy.

Lima de Carvalho JR Jr, Paavo M, Chen L, Chiang J, Tsang SH, Sparrow JR.

Invest Ophthalmol Vis Sci. 2019 May 1;60(6):2012-2022. doi: 10.1167/iovs.19-26571.


Multi-platform imaging in ABCA4-Associated Disease.

Chen L, Lee W, de Carvalho JRL Jr, Chang S, Tsang SH, Allikmets R, Sparrow JR.

Sci Rep. 2019 Apr 23;9(1):6436. doi: 10.1038/s41598-019-42772-z.


Generation of two iPS cell lines (FRIMOi003-A and FRIMOi004-A) derived from Stargardt patients carrying ABCA4 compound heterozygous mutations.

Riera M, Patel A, Burés-Jelstrup A, Corcostegui B, Chang S, Pomares E, Corneo B, Sparrow JR.

Stem Cell Res. 2019 Apr;36:101389. doi: 10.1016/j.scr.2019.101389. Epub 2019 Feb 13.


Hyperautofluorescent Dots are Characteristic in Ceramide Kinase Like-associated Retinal Degeneration.

Sengillo JD, Cho GY, Paavo M, Lee W, White E, Jauregui R, Sparrow JR, Allikmets R, Tsang SH.

Sci Rep. 2019 Jan 29;9(1):876. doi: 10.1038/s41598-018-37578-4.


Generation of an induced pluripotent stem cell line (FRIMOi002-A) from a retinitis pigmentosa patient carrying compound heterozygous mutations in USH2A gene.

Riera M, Patel A, Corcostegui B, Chang S, Corneo B, Sparrow JR, Pomares E.

Stem Cell Res. 2019 Mar;35:101386. doi: 10.1016/j.scr.2019.101386. Epub 2019 Jan 17.


Establishment and characterization of an iPSC line (FRIMOi001-A) derived from a retinitis pigmentosa patient carrying PDE6A mutations.

Riera M, Patel A, Corcostegui B, Chang S, Sparrow JR, Pomares E, Corneo B.

Stem Cell Res. 2019 Mar;35:101385. doi: 10.1016/j.scr.2019.101385. Epub 2019 Jan 17.


Bisretinoids mediate light sensitivity resulting in photoreceptor cell degeneration in mice lacking the receptor tyrosine kinase Mer.

Zhao J, Ueda K, Riera M, Kim HJ, Sparrow JR.

J Biol Chem. 2018 Dec 14;293(50):19400-19410. doi: 10.1074/jbc.RA118.005949. Epub 2018 Oct 23.


Microtubule-Associated Protein 1 Light Chain 3B, (LC3B) Is Necessary to Maintain Lipid-Mediated Homeostasis in the Retinal Pigment Epithelium.

Dhingra A, Bell BA, Peachey NS, Daniele LL, Reyes-Reveles J, Sharp RC, Jun B, Bazan NG, Sparrow JR, Kim HJ, Philp NJ, Boesze-Battaglia K.

Front Cell Neurosci. 2018 Oct 8;12:351. doi: 10.3389/fncel.2018.00351. eCollection 2018.


Light Come Shining: Fundus Autofluorescence.

Sparrow JR.

J Pediatr Ophthalmol Strabismus. 2018 Sep 20;55(5):285-286. doi: 10.3928/01913913-20180709-01. Review. No abstract available.


Quantitative Comparison of Near-infrared Versus Short-wave Autofluorescence Imaging in Monitoring Progression of Retinitis Pigmentosa.

Jauregui R, Park KS, Duong JK, Sparrow JR, Tsang SH.

Am J Ophthalmol. 2018 Oct;194:120-125. doi: 10.1016/j.ajo.2018.07.012. Epub 2018 Jul 24.


Novel bisretinoids of human retina are lyso alkyl ether glycerophosphoethanolamine-bearing A2PE species.

Kim HJ, Sparrow JR.

J Lipid Res. 2018 Sep;59(9):1620-1629. doi: 10.1194/jlr.M084459. Epub 2018 Jul 9.


Compromised phagosome maturation underlies RPE pathology in cell culture and whole animal models of Smith-Lemli-Opitz Syndrome.

Ramachandra Rao S, Pfeffer BA, Más Gómez N, Skelton LA, Keiko U, Sparrow JR, Rowsam AM, Mitchell CH, Fliesler SJ.

Autophagy. 2018;14(10):1796-1817. doi: 10.1080/15548627.2018.1490851. Epub 2018 Jul 31.


Re: Cuenca et al.: Cellular characterization of OCT and outer retinal bands using specific immunohistochemistry markers and clinical implications (Ophthalmology. 2018;125;407-422).

Curcio CA, Sparrow JR, Bonilha VL, Pollreisz A, Lujan BJ.

Ophthalmology. 2018 Jul;125(7):e47-e48. doi: 10.1016/j.ophtha.2018.02.031. No abstract available.


Mutations in GPR143/OA1 and ABCA4 Inform Interpretations of Short-Wavelength and Near-Infrared Fundus Autofluorescence.

Paavo M, Zhao J, Kim HJ, Lee W, Zernant J, Cai C, Allikmets R, Tsang SH, Sparrow JR.

Invest Ophthalmol Vis Sci. 2018 May 1;59(6):2459-2469. doi: 10.1167/iovs.18-24213.


Bisretinoid Photodegradation Is Likely Not a Good Thing.

Ueda K, Kim HJ, Zhao J, Sparrow JR.

Adv Exp Med Biol. 2018;1074:395-401. doi: 10.1007/978-3-319-75402-4_49. Review.


Photoreceptor cells as a source of fundus autofluorescence in recessive Stargardt disease.

Paavo M, Lee W, Allikmets R, Tsang S, Sparrow JR.

J Neurosci Res. 2019 Jan;97(1):98-106. doi: 10.1002/jnr.24252. Epub 2018 Apr 27.


Iron promotes oxidative cell death caused by bisretinoids of retina.

Ueda K, Kim HJ, Zhao J, Song Y, Dunaief JL, Sparrow JR.

Proc Natl Acad Sci U S A. 2018 May 8;115(19):4963-4968. doi: 10.1073/pnas.1722601115. Epub 2018 Apr 23.


A Distinct Phenotype of Eyes Shut Homolog (EYS)-Retinitis Pigmentosa Is Associated With Variants Near the C-Terminus.

Sengillo JD, Lee W, Nagasaki T, Schuerch K, Yannuzzi LA, Freund KB, Sparrow JR, Allikmets R, Tsang SH.

Am J Ophthalmol. 2018 Jun;190:99-112. doi: 10.1016/j.ajo.2018.03.008. Epub 2018 Mar 14.


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