Results 91 to 100 of about 2,525,884 (192)

Biallelic WDR19 Variants: Systematic Analysis of Genotype–Phenotype Correlations

Human Mutation, Volume 2026, Issue 1, 2026.
Ciliopathies represent a diverse group of inherited disorders resulting from dysfunctional cilia. A rare subset is associated with biallelic variants in WDR19, with fewer than 100 affected individuals reported worldwide. This study is aimed at reviewing the clinical and molecular spectrum of WDR19‐associated ciliopathies, with a particular focus on ...
Zoe Webster, Lisa Woods, Robert Dalziel, Kylie Drake, Guillem de Valles-Ibáñez, Gemma Poke, Miklos Sahin -Toth   +6 more
wiley   +1 more source

Structure-function analysis of ABCA4 membrane transporter: development of a soluble model system

Biswas, SubhasisBiswas-Fiss, EstherThe fourth member of ABCA subfamily transporter protein, ABCA4, is highly expressed and localized in the rod and cone outer segment discs of photoreceptor cells.
Alturkestani, Albtool
core   +1 more source

Generation of two induced pluripotent stem cell lines (LVPEIi007-B, LVPEIi008-B) from patients harboring homozygous mutation in ABCA4 (c.6088C>T) using non-integrative Sendai virus-based approach

Stem Cell Research
Mutations in ABCA4 gene leads to the most common form of an inherited retinal disease namely, the Stargardt disease, type 1. Here, we report the generation of two different patient-specific induced pluripotent stem cell lines (LVPEIi007-B and LVPEIi008-B)
Divya Pidishetty, Savitri Maddileti, Sudipta Mahato, Trupti Agrawal, Vinay Kumar Pulimamidi, Milind Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan   +8 more
doaj   +1 more source

Classification of Inherited Retinal Diseases Using Artificial Intelligence Models for Fundus Autofluorescence and Ultrawide Retinal Images

Journal of Ophthalmology, Volume 2026, Issue 1, 2026.
Background/Objectives Inherited retinal diseases (IRDs) are a leading cause of blindness in working‐age adults. Although artificial intelligence (AI) shows potential for disease classification, progress is limited by small datasets, reliance on labelled data and limited integration of multiple imaging modalities. RETFound, a foundation model pretrained
Han Trinh, Muhammad Ibrahim, Jason Charng, Zahra Tajbakhsh, Fred K. Chen, Ajmal Mian, Khyber Alam, Wataru Matsumiya   +7 more
wiley   +1 more source

Detailed Analysis of Allelic Variation in theABCA4Gene in Age-Related Maculopathy

Investigative Opthalmology & Visual Science, 2003
Age-related maculopathy (ARM) is one of the most common causes of blindness in older adults worldwide. Sequence variants in a gene coding for a retina-specific ATP-binding cassette (ABCA4) transporter protein, which is responsible for a phenotypically similar Mendelian form of retinal disease, were proposed to increase the risk of ARM.
Silke, Schmidt, Eric A, Postel, Anita, Agarwal, I Coy, Allen, Shaune N, Walters, Monica A, De la Paz, William K, Scott, Jonathan L, Haines, Margaret A, Pericak-Vance, John R, Gilbert   +9 more
openaire   +2 more sources

Spectrum of theABCA4Gene Mutations Implicated in Severe Retinopathies in Spanish Patients

Investigative Opthalmology & Visual Science, 2007
The purpose of this study is to describe the spectrum of mutations in the ABCA4 gene found in Spanish patients affected with several retinal dystrophies.Sixty Spanish families with different retinal dystrophies were studied. Samples were analyzed for variants in all 50 exons of the ABCA4 gene by screening with the ABCR400 microarray, and results were ...
Valverde D, Riveiro-Alvarez R, Aguirre-Lamban J, Baiget M, Carballo M, Antiñolo G, Millán JM, Garcia Sandoval B, Ayuso C   +8 more
openaire   +3 more sources

Stargardt Disease Due to an Intronic Mutation in the ABCA4: A Case Report

International Medical Case Reports Journal, 2022
Ambar Lugo-Merly,1 Leonardo J Molina Thurin,2 Natalio J Izquierdo-Encarnacion,3 Stella M Casillas-Murphy,4 Armando Oliver-Cruz5 1School of Medicine, Medical Sciences Campus, University of Puerto Rico, San Juan, Puerto Rico; 2San Juan Bautista School of ...
Lugo-Merly A, Molina Thurin LJ, Izquierdo-Encarnacion NJ, Casillas-Murphy SM, Oliver-Cruz A   +4 more
doaj  

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

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

Diagnostics (Basel), 2023
Chou HD, Hwang YS, Chen KJ, Wu WC, Liu L, Ou ST, Liao W, Wang CC, Lin T, Lai CC.   +9 more
europepmc   +1 more source

Prediction of Causative Genes in Inherited Retinal Disorders from Spectral-Domain Optical Coherence Tomography Utilizing Deep Learning Techniques

Journal of Ophthalmology, 2019
Purpose. To illustrate a data-driven deep learning approach to predicting the gene responsible for the inherited retinal disorder (IRD) in macular dystrophy caused by ABCA4 and RP1L1 gene aberration in comparison with retinitis pigmentosa caused by EYS ...
Yu Fujinami-Yokokawa, Nikolas Pontikos, Lizhu Yang, Kazushige Tsunoda, Kazutoshi Yoshitake, Takeshi Iwata, Hiroaki Miyata, Kaoru Fujinami, on behalf of Japan Eye Genetics Consortium   +8 more
doaj   +1 more source