Results 21 to 30 of about 5,408 (199)

Representation of women among individuals with mild variants in ABCA4-associated retinopathy: A meta-analysis [PDF]

Importance Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.Objective To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who ...
Simcoe, M., Sharon, D., Dhaenens, C., IntHout, J., Lin, S., Runhart, E., Corradi, Z., Webster, A., Hitti-Malin, R., Mahroo, O., Arno, G., Khan, M., Farrar, G., Cornelis, S., Grunewald, O., Whelan, L., van den Born, L., Cremers, F., Michaelides, M., Roosing, S.   +19 more
core   +6 more sources

ABCA4 mutations and discordant ABCA4 alleles in patients and siblings with bull's-eye maculopathy [PDF]

British Journal of Ophthalmology, 2007
To determine the frequency and nature of mutations in the gene ABCA4 in a cohort of patients with bull's-eye maculopathy (BEM).A panel of 49 subjects (comprising 40 probands/families, 7 sibling pairs and a set of three sibs) with BEM, not attributable to toxic causes, was ascertained.
M, Michaelides, L L, Chen, M A, Brantley, J L, Andorf, E M, Isaak, S A, Jenkins, G E, Holder, A C, Bird, E M, Stone, A R, Webster   +9 more
openaire   +2 more sources

The lipid translocase, ABCA4: seeing is believing [PDF]

The FEBS Journal, 2011
Mutations to members of the A subfamily of ATP binding cassette (ABC) proteins are responsible for a number of diseases; typically they are associated with aberrant cellular lipid transport processes. Mutations to the ABCA4 protein are linked to a number of visual disorders including Stargardt’s disease and retinitis pigmentosa.
Pollock, Naomi L., Callaghan, Richard
openaire   +3 more sources

Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease

Nature Communications, 2021
ABCA4 is an ATP-binding cassette (ABC) transporter that flips N-retinylidenephosphatidylethanolamine (N-Ret-PE) to the cytoplasmic leaflet of photoreceptor membranes. ABCA4 mutations are associated with loss of vision.
Jessica Fernandes Scortecci, Laurie L. Molday, Susan B. Curtis, Fabian A. Garces, Pankaj Panwar, Filip Van Petegem, Robert S. Molday   +6 more
doaj   +1 more source

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C

Molecular Therapy: Nucleic Acids, 2023
Stargardt disease type 1 (STGD1) is the most common hereditary form of maculopathy and remains untreatable. STGD1 is caused by biallelic variants in the ABCA4 gene, which encodes the ATP-binding cassette (type 4) protein (ABCA4) that clears toxic ...
Melita Kaltak, Petra de Bruijn, Davide Piccolo, Sang-Eun Lee, Kalyan Dulla, Thomas Hoogenboezem, Wouter Beumer, Andrew R. Webster, Rob W.J. Collin, Michael E. Cheetham, Gerard Platenburg, Jim Swildens   +11 more
doaj   +1 more source

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

Genes (Basel)
Objectives: The aim of this study was to report novel ABCA4 variants detected in a cohort of 259 patients with ABCA4 retinopathy with the intention of improving the diagnostic accuracy for ABCA4 retinopathy and expanding its genetic spectrum. Methods: We
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   +2 more sources

Induced pluripotent stem cell line BIOi003-A from a patient with ABCA4-associated retinal dystrophy carrying compound heterozygous c.(1222C>T;2919-884G>T) variants in ABCA4

Stem Cell Research, 2022
ABCA4-associated retinal dystrophy is the most frequent inherited retinal dystrophy caused by biallelic variants in ABCA4 gene. We induced a new pluripotent stem cell line (BIOi003-A) from peripheral blood mononuclear cells (PBMCs) of a 14-year-old ...
Lu Tian, Xiao-hui Zhang, Ke Xu, Yang Li
doaj   +1 more source

Quantitative Fundus Autofluorescence Distinguishes ABCA4-Associated and Non–ABCA4-Associated Bull's-Eye Maculopathy [PDF]

Ophthalmology, 2015
Quantitative fundus autofluorescence (qAF) and spectral-domain optical coherence tomography (SD OCT) were performed in patients with bull's-eye maculopathy (BEM) to identify phenotypic markers that can aid in the differentiation of ABCA4-associated and non-ABCA4-associated disease.Prospective cross-sectional study at an academic referral center.Thirty ...
Tobias, Duncker, Stephen H, Tsang, Winston, Lee, Jana, Zernant, Rando, Allikmets, François C, Delori, Janet R, Sparrow   +6 more
openaire   +2 more sources

Childhood cone–rod dystrophy with macular cyst formation in ABCA4 mutation identified by serial spectral-domain optical coherence tomography

Taiwan Journal of Ophthalmology, 2021
Cone–rod dystrophy (CORD) is a type of progressive hereditary retinal dystrophies that causes cone predominant photoreceptor degeneration characterized by wide genotypic and phenotypic heterogeneity.
Kai Ching Peter Leung, Tak Chuen Simon Ko   +1 more
doaj   +1 more source

Case series: The value of fundus autofluorescence in inherited macular disease. [PDF]

Optom Vis Sci
ABSTRACT Purpose To evaluate the diagnostic utility of fundus autofluorescence (FAF) imaging in identifying and characterizing phenotypically classified inherited macular dystrophies. In this way, we aim to provide methods by which eye care practitioners can link FAF imaging and other clinical results or imaging modalities to aid their clinical ...
Guro M, Wang H, Phu J, Patel NB, Sapoznik KA, Shah H, Kalloniatis M.   +6 more
europepmc   +2 more sources