Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
Journal of Translational Medicine, 2023 Background ABCA4, the gene implicated in Stargardt disease (STGD1), contains 50 exons, of which 17 contain multiples of three nucleotides. The impact of in-frame exon skipping is yet to be determined.
Melita Kaltak +8 more
doaj +2 more sources
Role of the ABCA4 Gene Expression in the Clearance of Toxic Vitamin A Derivatives in Human Hair Follicle Stem Cells and Keratinocytes. [PDF]
Int J Mol Sci, 2023 The ABCA4 gene encodes an ATP-binding cassette transporter that is expressed specifically in the disc of photoreceptor outer segments. Mutations in the ABCA4 gene are the main cause of retinal degenerations known as “ABCA4-retinopathies.&rdquo ...
Ścieżyńska A +8 more
europepmc +2 more sources
Diagnostic Challenges in ABCA4-Associated Retinal Degeneration: One Gene, Many Phenotypes
Diagnostics, 2023 (1) Purpose: ABCA4-associated retinal degeneration (ABCA4-RD) is a phenotypically diverse disease that often evades diagnosis, even by experienced retinal specialists.
Beau J. Fenner +4 more
core +4 more sources
Bilateral choroidal neovascularization associated with bilateral ABCA4 gene mutation
European Journal of Ophthalmology, 2011 Purpose To describe a case of ABCA4 gene mutation (G1961E) associated with bilateral choroidal neovascularization (CNV) treated with intravitreal ranibizumab injections.
Karl A. Knutsson +3 more
core +3 more sources
Presentation of Complex Homozygous Allele in ABCA4 Gene in a Patient with Retinitis Pigmentosa [PDF]
Case Reports in Ophthalmological Medicine, 2015 Retinitis pigmentosa is a degenerative retinal disease characterized by progressive photoreceptor damage, which causes loss of peripheral and night vision and the development of tunnel vision and may result in loss of central vision. This study describes
Māreta Audere +3 more
doaj +3 more sources
Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles. [PDF]
Int J Mol Sci, 2020 ABCA4 gene mutations are the cause of a spectrum of ABCA4 retinopathies, and the most common juvenile macular degeneration is called Stargardt disease. ABCA4 has previously been observed almost exclusively in the retina.
Ścieżyńska A +11 more
europepmc +2 more sources
Genotypic Analysis of ABCA4 Coding Sequence in Thai Patients with Stargardt Disease [PDF]
Siriraj Medical JournalObjective: To study the mutational spectrum of the ABCA4 gene in Thai patients with Stargardt disease. Materials and Methods: DNA sequencing of all 50 exons of the ABCA4 gene was performed in nine Thai patients with clinically diagnosed Stargardt ...
Chinnavuth Vatanashevanopakorn +8 more
doaj +1 more source
Association of ABCA4 Gene Polymorphisms with Cleft Lip with or without Cleft Palate in the Polish Population. [PDF]
Int J Environ Res Public Health, 2021 Background: Non-syndromic cleft lip with/without cleft palate (NSCL/P) is a common congenital condition with a complex aetiology reflecting multiple genetic and environmental factors. Single nucleotide polymorphisms (SNPs) in ABCA4 have been associated with NSCL/P in several studies, although there are some inconsistent results.
Zawiślak A +9 more
europepmc +6 more sources
Nederlands tijdschrift voor geneeskunde, 2002 Contains fulltext : 120714.pdf (Publisher’s version ) (Open Access)Autosomal recessive Stargardt disease is caused by mutations in the ABCA4 gene.
Maugeri, A. +4 more
core +4 more sources
Clinical and Genetic Spectrum of Stargardt Disease in Argentinean Patients
Frontiers in Genetics, 2021 PurposeTo describe the clinical and molecular spectrum of Stargardt disease (STGD) in a cohort of Argentinean patients.MethodsThis retrospective study included 132 subjects comprising 95 probands clinically diagnosed with STGD and relatives from 16 of ...
Marcela D. Mena +8 more
doaj +1 more source