Results 151 to 160 of about 2,525,884 (192)

Precise CRISPR/Cas9 and Cas12 Correction Using Lipoplexes in Retinal Models Derived from Patients with Inherited Retinal Dystrophies. [PDF]

Cells
Siles L, Ruiz-Nogales S, Méndez-Vendrell P, Pomares E.   +3 more
europepmc   +1 more source

An Atypical Neurosensory-Predominant Presentation Associated with a Homozygous <i>NDUFS3</i> Variant: A Diagnostic Challenge Involving Retinal and Hearing Phenotypes. [PDF]

Mol Syndromol
Basan H, Kurt EE, Kasapkara ÇS.
europepmc   +1 more source

Disease and Participant-Related Correlates of Genetic Testing Completion for Hereditary Eye Disorders in a Cohort of over 1400 Patients. [PDF]

Ophthalmol Sci
Wang DT, Antonio-Aguirre B, Ruggeri ML, Smith CH, Guthrie KS, Applegate CD, Pan A, Mehta SP, Dreger KA, Ahmed I, Doyle JJ, Singh MS.   +11 more
europepmc   +1 more source

Dysregulated DNA Methylation in <i>Abca4^-/-</i> Retinal Pigment Epithelium: Insights into Early Stage of Stargardt Disease. [PDF]

Int J Mol Sci
Dave A, Tosevska A, Morselli M, Tom E, Pellegrini M, Skowronska-Krawczyk D, Radu RA.   +6 more
europepmc   +1 more source

Genotype-Phenotype Correlations in ABCA4-Associated Retinopathy: Insights From a Spanish Cohort of 245 Patients. [PDF]

Invest Ophthalmol Vis Sci
Cobos E, Català-Mora J, Aguilera C, Biarnés M, Distefano L, Antolín-Maté M, Casaroli-Marano RP, Alforja S, Barberán-Martínez P, Millán JM, García-García G, Santamaría JF, Yubero D, Irigoyen C, Caminal JM, Arias L, Corradi Z, Cremers FPM, Sau C, Jordan-Cumplido S, Esteve-Garcia A.   +20 more
europepmc   +1 more source

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

Lens Opacity in ABCA4-Associated Stargardt Disease Patients in the ProgStar Study. [PDF]

Invest Ophthalmol Vis Sci
Ibukun F, Chan BXJ, Khan J, Wang Y, Ervin AM, Kühlewein L, Strauss RW, Aychoua N, Birch D, Cideciyan A, Singh M, Traboulsi E, Bernstein P, Michaelides M, Kong X.   +14 more
europepmc   +1 more source

ABCA4 Gene Mutations in Japanese Patients with Stargardt Disease and Retinitis Pigmentosa

ABCA4 Gene Mutations in Japanese Patients with Stargardt Disease and Retinitis Pigmentosa
openaire   +1 more source

Non-viral Gene Therapy for Stargardt Disease with ECO/pRHO-ABCA4 Self-Assembled Nanoparticles [PDF]

Molecular Therapy, 2020
Stargardt disease (STGD) is an autosomal recessive retinal disorder caused by a monogenic ABCA4 mutation. Currently, there is no effective therapy to cure Stargardt disease.
Rebecca Schur, Zheng-Rong Lu, Avery Sears   +2 more
exaly   +2 more sources

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Gene Therapy for Stargardt Disease Associated with ABCA4 Gene

Advances in Experimental Medicine and Biology, 2014
Mutations in the photoreceptor-specific flippase ABCA4 lead to accumulation of the toxic bisretinoid A2E, resulting in atrophy of the retinal pigment epithelium (RPE) and death of the photoreceptor cells. Many blinding diseases are associated with these mutations including Stargardt's disease (STGD1), cone-rod dystrophy, retinitis pigmentosa (RP), and ...
Zongchao Han, Muna I Naash, Shannon M. Conley   +2 more
exaly   +3 more sources