Results 61 to 70 of about 5,408 (199)

Clinical manifestations of dual‐gene variants in retinitis pigmentosa

Acta Ophthalmologica, EarlyView.
Abstract Purpose Retinitis pigmentosa (RP) is an inherited retinal disease (IRD), whereby each affected individual typically harbours pathogenic variants in a single causative gene, yet the disorder exhibits marked genetic heterogeneity, with more than 100 genes reported to underlie RP.
Lasse Wolfram, Jan‐Philipp Bodenbender, David A. Merle, Milda Reith, Anton Sonntag, Krunoslav Stingl, Tobias B. Haack, Theresia Zuleger, Bernd Wissinger, Laura Kühlewein, Katarina Stingl, Susanne Kohl   +11 more
wiley   +1 more source

Biochemical analysis of ABCA4 mutations responsible for Stargardt disease

, 2021
ABCA4 is an ABC transporter encoded by the ABCA4 gene. This transporter is predominantly expressed in the disc membranes of photoreceptor cells in the retina where it plays a crucial role.
Garces, Fabian
core   +1 more source

Increased cone sensitivity to ABCA4 deficiency provides insight into macular vision loss in Stargardt's dystrophy [PDF]

, 2012
Autosomal recessive Stargardt macular dystrophy is caused by mutations in the photoreceptor disc rim protein ABCA4/ABCR. Key clinical features of Stargardt disease include relatively mild rod defects such as delayed dark adaptation, coupled with severe ...
Sparrow, Janet R., Muna I. Naash, Naash, Muna I., Conley, Shannon M., Xue Cai, Cai, Xue, Shannon M. Conley, Wu, Yalin, Janet R. Sparrow, Makkia, Rasha, Rasha Makkia, Yalin Wu   +11 more
core   +1 more source

Retinal dystrophies simulating geographic atrophy: A diagnostic challenge

Acta Ophthalmologica, EarlyView.
Abstract Geographic atrophy (GA) is the chronic loss of retinal pigment epithelium, photoreceptors and choriocapillaris, marking the dry late stage of age‐related macular degeneration (AMD). GA prevalence is expected to rise in the upcoming decades. Advanced GA leads to central scotomas, reducing visual acuity and quality of life, potentially resulting
Johanna M. Colijn, Frank G. Holz, Jeroen Pas, Carel Hoyng   +3 more
wiley   +1 more source

Structural and biochemical basis for retinol‐binding protein 4 antagonism by tinlarebant

British Journal of Pharmacology, EarlyView.
Background and Purpose Retinol‐binding protein 4 (RBP4) is a member of the lipocalin superfamily that is connected to disease states such as insulin resistance, fatty liver disease and ocular disorders including Stargardt disease. Several retinoid and non‐retinoid antagonists of this protein have been developed for potential clinical use, but none have
Marco Bassetto, Philip D. Kiser
wiley   +1 more source

Analysis of Retinol Binding Protein 4 and ABCA4 Gene Variation in Non-Neovascular Age-Related Macular Degeneration

Diagnostics, 2023
Age-related macular degeneration (AMD) may be associated with ABCA4 variants and is characterized by the accumulation of visual cycle-byproduct lipofuscin.
Hung-Da Chou, Yih-Shiou Hwang, Kuan-Jen Chen, Wei-Chi Wu, Laura Liu, Shyh-Tyan Ou, Webber Liao, Cheng-Chi Wang, Tom Lin, Chi-Chun Lai   +9 more
doaj   +1 more source

Topological organization of ABCA4 and conservation analysis.

, 2014
(A) Protein alignment showed conservation of residues ABCA4 Y808X and G607R across nine species. These two mutations occured at an evolutionarily conserved amino acid.
Xianjun Zhu (144118), He Lin (217878), Lulin Huang (256539), Youping Li (111211), Liya Wang (161745), Xiong Zhu (535481), Hui Chen (28597), Fang Hao (535483), Siyu Tao (535480), Zhenglin Yang (24489), Zhili Wang (535482), Yu Zhou (89766)   +11 more
core   +1 more source

Protein misfolding and the pathogenesis of ABCA4-associated retinal degenerations [PDF]

, 2015
Mutations in the ABCA4 gene are a common cause of autosomal recessive retinal degeneration. All mouse models to date are based on knockouts of Abca4, even though the disease is often caused by missense mutations such as the complex allele L541P;A1038V ...
Kolesnikov, Alexander V., Rozanowska, Malgorzata, Jacobson, Samuel, Cideciyan, Artur V., Palczewski, Krzysztof, Stone, Edwin M., Tsybovsky, Yaroslav, Jacobson, Samuel G., Kefalov, Vladimar J., Palczewska, Grazyna, Cideciyan, Artur, Maeda, Akiko, Kefalov, Vladimir, Swider, Malgorzata, Schwartz, Sharon, Schwartz, Sharon B., Stone, Edwin, Kolesnikov, Alexander, Zhang, Ning   +18 more
core   +1 more source

Phasor‐Based Spatio‐Spectral Segmentation for Hyperspectral Fluorescence Microscopy

Journal of Biophotonics, Volume 19, Issue 9, September 2026.
Spatially‐corrected density peak clustering (SC‐DPC) enables high‐accuracy segmentation of hyperspectral fluorescence microscopy data in the presence of significant spectral and spatial overlap between fluorophores. Validated on retinal imaging, SC‐DPC effectively separates overlapping fluorophore spectra in photon‐starved conditions, offering superior
Maciej Barna, Grazyna Palczewska, Grzegorz Soboń, Krzysztof Palczewski, Jakub Bogusławski   +4 more
wiley   +1 more source

Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease

Cells, 2022
Stargardt disease is an inherited retinal disease caused by biallelic mutations in the ABCA4 gene, many of which affect ABCA4 splicing. In this study, nine antisense oligonucleotides (AONs) were designed to correct pseudoexon (PE) inclusion caused by a ...
Tomasz Z. Tomkiewicz, Sara E. Nieuwenhuis, Frans P. M. Cremers, Alejandro Garanto, Rob W. J. Collin   +4 more
doaj   +1 more source