Results 81 to 90 of about 5,408 (199)
Ciliary Defects in Inherited Retinal Diseases
Advanced Genetics, Volume 7, Issue 1, March 2026.The photoreceptor cilium is a specialized sensory organelle essential for vision. This review systematically summarizes the structural and functional defects of the cilium that lead to inherited retinal diseases (IRDs). It highlights key pathogenic genes, elucidates molecular mechanisms of degeneration, and evaluates emerging therapeutic strategies ...
Guizhi Guo, Lin Li, Jun Zhou, Jie Ran
wiley +1 more source
The ABCA4 Gene in Autosomal Recessive Cone-Rod Dystrophies [PDF]
The American Journal of Human Genetics, 2002 To the Editor: Recently, Maugeri et al. (2000) reported on the screening of the ABCA4 gene in 5 patients with autosomal recessive cone-rod dystrophies (CRD) and 15 patients with sporadic CRD originating from Germany and the Netherlands. The identification of mutations in 13/20 patients (65%) led the authors to speculate that “Mutations in the ABCA4 (
Ducroq, Dominique +10 more
openaire +2 more sources
Organoids for Metabolic Disease Modeling
Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita +2 more
wiley +1 more source
FASEB BioAdvancesMutations in the ABCA4 gene in Stargardt disease (STGD1) cause enhanced accumulation of cytotoxic lipofuscin, manifesting in RPE atrophy and photoreceptor dysfunction.
Rakesh Radhakrishnan +5 more
doaj +1 more source
Posttranslational Modifications of the Photoreceptor-Specific ABC Transporter ABCA4
, 2016 ABCA4 is a photoreceptor-specific ATP-binding cassette transporter implicated in the clearance of all-trans-retinal produced in the retina during light perception.
Benlian Wang (296432) +4 more
core +1 more source
Double hyperautofluorescent ring on fundus autofluorescence in ABCA4 [PDF]
Ophthalmic Genetics, 2017 We report an unusual phenotype in a child with a clinical diagnosis of recessive Stargardt disease (STGD1) and two pathogenic variants in the ABCA4 gene. Typically, the diagnosis of early-onset STGD1 is challenging because children may present with a variety of fundus changes and a variable rate of progression.
Maria Fernanda, Abalem +7 more
openaire +2 more sources
Mutationsanalyse in ABCA4-assoziierten Netzhautdystrophien mittels der Didesoxymethode nach Sanger [PDF]
, 2015 Im Rahmen dieser Arbeit wurde das ABCA4-Gen von insgesamt 62 Morbus Stargardt (STGD)-, Zapfen-/Stäbchen-Dystrophie (ZSD)- und altersabhängiger Makuladegeneration (AMD)-Patienten mittels direkter Sanger-Sequenzierung untersucht, bei denen im Rahmen der ...
Lenhardt, Nina-Veronika Ingeborg
core
Mutation identification of ABCA4 gene.
, 2014 Electropherogram analysis of ABCA4 in family 2048 showing the compound heterozygous mutations (c.C2424G and c.G1819A) co-segregated with the phenotype. II1 and II2 patients harbored compound heterozygous c.C2424G and c.G1819A mutations of the ABCA4 gene.
Xianjun Zhu (144118) +11 more
core +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