Results 111 to 120 of about 5,408 (199)

Clinical, Genotypic, and Imaging Characterization of the Spectrum of ABCA4 Retinopathies

Ophthalmology Retina
To investigate the clinical and genotypic differences in the spectrum of ABCA4-associated retinopathies (ABCA4Rs).Observational, cross sectional case series.Sixty-six patients (132 eyes) carrying biallelic ABCA4 variants.Patients underwent visual acuity measurement and multimodal imaging.
Francesco Romano, Francesca Lamanna, Camiel J.F. Boon, Alessandro Siligato, Gagan Kalra, Aniruddha Agarwal, Chiara Medori, Matteo Bertelli, Marco Pellegrini, Alessandro Invernizzi, Giovanni Staurenghi, Anna Paola Salvetti   +11 more
openaire   +4 more sources

A Proximity Complementation Assay to Identify Small Molecules That Enhance the Traffic of ABCA4 Misfolding Variants [PDF]

ABCA4-related retinopathy is the most common inherited Mendelian eye disorder worldwide, caused by biallelic variants in the ATP-binding cassette transporter ABCA4.
Guarascio, Rosellina, Molday, Robert S, Cheetham, Michael E, Piccolo, Davide, Zarouchlioti, Christina, Bellingham, James, Ziaka, Kalliopi   +6 more
core   +2 more sources

ABCA4 structure-function relationships : role in Stargardt disease and related retinal degenerative diseases

, 2009
ABCA4, also known as ABCR or the rim protein, is a member of the family of ATP binding cassette (ABC) proteins expressed in rod and cone photoreceptors.
Zhong, Ming
core   +1 more source

Novel and Recurrent Copy Number Variants in ABCA4-Associated Retinopathy

ABCA4 is the most frequently mutated gene leading to inherited retinal disease (IRD) with over 2200 pathogenic variants reported to date. Of these, ~1% are copy number variants (CNVs) involving the deletion or duplication of genomic regions, typically ...
Corradi, Zelia, Karali, Marianthi, Karali, M., Corradi, Z., Cremers, Frans P. M., Marianthi Karali, Kocabaş, I. S., Ipek Selen Kocabaş, Rebekkah J. Hitti-Malin, Isabelle Meunier, Banfi, Sandro, Hitti-Malin, R. J., Frans P. M. Cremers, Cremers, F. P. M., Meunier, Isabelle, Zelia Corradi, Banfi, S., Claire-Marie Dhaenens, Meunier, I., Olivier Grunewald, Hitti-Malin, Rebekkah J., Grunewald, O., Grunewald, Olivier, Kocabaş, Ipek Selen, Dhaenens, Claire-Marie, Sandro Banfi   +25 more
core   +1 more source

Quantitative Autofluorescence andABCA4Disease

Investigative Opthalmology & Visual Science, 2016
Rando, Allikmets, Tobias, Duncker, Winston, Lee, Stephen H, Tsang   +3 more
openaire   +2 more sources

An analysis of allelic variation in the ABCA4 gene.

Investigative ophthalmology & visual science, 2001
To assess the allelic variation of the ATP-binding transporter protein (ABCA4).A combination of single-strand conformation polymorphism (SSCP) and automated DNA sequencing was used to systematically screen this gene for sequence variations in 374 unrelated probands with a clinical diagnosis of Stargardt disease, 182 patients with age-related macular ...
Webster, Andrew R., Heon, Elise, Lotery, Andrew J., Vandenburgh, Kimberlie, Casavant, Thomas L., Oh, Kean T., Beck, Gretel, Fishman, Gerald A., Lam, Byron L., Levin, Alex, Heckenlively, John R., Jacobson, Samuel G., Weleber, Richard G., Sheffield, Val C., Stone, Edwin M.   +14 more
openaire   +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

Functional characterization and transcriptional regulation of genetic variants in the ABCA4 promoter

, 2018
ATP-binding cassette, subfamily A, member 4 (ABCA4) 수송체는 망막의 광수용체에 위치하고 있으며, 이 수송체의 기질은 retinylidene-phosphatidylethanolamine이다. ABCA4 수송체는 retinylidene-phosphatidylethanolamine-PE를 판막에서 세포질 내로 수송함으로써 판막 안쪽에서의 축적을 방지한다.
김보민
core  

DGAT1-associated lipid-retinoid dysregulation correlates with metabolic impairment in the RPE of Stargardt disease. [PDF]

iScience
Dave A, Ng ESY, Jiang Z, Hu J, Tatang J, Paniagua A, Doeve J, Parikh S, Williams KJ, Stiles L, Radu RA.   +10 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