Results 101 to 110 of about 971 (147)

Mechanisms and Functions of Chromophore Regeneration in the Classical Visual Cycle: Implications for Retinal Disease Pathogenesis and Therapy. [PDF]

Biomolecules
Yu X, Fan H, Zhang H, Li X.
europepmc   +1 more source

The Liver-Eye Axis of Dietary Vitamin A Homeostasis: A Review of Mechanisms, Receptors, and Visual Outcomes. [PDF]

Nutrients
Gao S, Leung M, Radhakrishnan R, Lobo GP.   +3 more
europepmc   +1 more source

Contribution of genetic test results to patient management in ophthalmology: results from a Turkish Stargardt disease cohort. [PDF]

Turk J Med Sci
Yaylacioğlu Tuncay F, Özdek Ş, Acar B, Kayhan G, Yüksel M, Özdemir HB, Gürelik G, Ergün MA.   +7 more
europepmc   +1 more source

Dissecting Missing Heritability in Rare Inherited Macular Dystrophies. [PDF]

Genes (Basel)
Harford D, Conway M, Moran B, Zhu J, Turner J, Dockery A, O'Byrne JJ, Flitcroft DI, Burke T, Stephenson KAJ, Farrar GJ, Keegan DJ.   +11 more
europepmc   +1 more source

Progression of Atrophy as a Function of ABCA4 Variants and Age of Onset in Stargardt Disease. [PDF]

Invest Ophthalmol Vis Sci
Pas JAAH, Li CHZ, Van den Broeck F, Dhooge PPA, De Zaeytijd J, Collin RWJ, Leroy BP, Hoyng CB.   +7 more
europepmc   +1 more source

Genotypic and Phenotypic Insights on 11 Novel Variants in the <i>ABCA4</i> Gene. [PDF]

Genes (Basel)
Al-Khuzaei S, Yu J, Broadgate S, Shanks M, Clouston P, MacLaren RE, Charbel Issa P, Halford S, De Silva SR, Downes SM.   +9 more
europepmc   +1 more source

The socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study. [PDF]

PLoS One
Vandersmissen I, Geers J, Denee T, Oinasmaa S, Hoeben D, Zhang X, Aydin B, Cheung S, Billiet L, Joniau I, Daly A, Simoens S, Leroy BP.   +12 more
europepmc   +1 more source

Using RNA-targeting CRISPR-Cas13 and engineered U1 systems to target <i>ABCA4</i> splice variants in Stargardt disease. [PDF]

Mol Ther Nucleic Acids
Liou RH, Urrutia-Cabrera D, Liu CF, Wu S, Westin IM, Golovleva I, Liu GS, Kumar S, McLenachan S, Chen FK, Hsu FT, Huang CL, Edwards T, Martin KR, Cheng AW, Wong RCB.   +15 more
europepmc   +1 more source

Loss of ABCA4 from photoreceptor discs is associated with glial transcriptomic changes in retinal organoids. [PDF]

Stem Cells
Valenzano R, McDonald A, Gallego C, Andriessen CA, Moustakas I, Mulder AA, Mikkers HMM, Koning RI, Mei H, Wijnholds J.   +9 more
europepmc   +1 more source

iPSC-derived retinal pigment epithelium: an in vitro platform to reproduce key cellular phenotypes and pathophysiology of retinal degenerative diseases. [PDF]

Stem Cells Transl Med
Li H, Sharma R, Bharti K.
europepmc   +1 more source