Results 71 to 80 of about 2,525,884 (192)

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

ABCA4 Gene Sequence Variations in Patients With Autosomal Recessive Cone-Rod Dystrophy [PDF]

Archives of Ophthalmology, 2003
To identify sequence variations in the ABCA4 gene in a cohort of patients with autosomal recessive cone-rod dystrophy.The coding sequences of the ABCA4 gene were analyzed in 30 unrelated probands. In those patients with plausible disease-causing variations, correlations were made between genotype and fundus phenotype as well as with ...
Gerald A, Fishman, Edwin M, Stone, David A, Eliason, Chris M, Taylor, Martin, Lindeman, Deborah J, Derlacki   +5 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, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

Retinal dystrophies caused by mutations in the ABCA4 gene. An evaluation of the clinical spectrum. [PDF]

, 2004
Contains fulltext : 19537__retidycab.pdf (Publisher’s version ) (Open Access)In the past seven years, the ABCA4 gene has emerged as the most prominent gene in inherited retinal disease.
Klevering, B.J.
core   +1 more source

Assessment of tropism and effectiveness of new primate-derived hybrid recombinant AAV serotypes in the mouse and primate retina. [PDF]

PLoS ONE, 2013
Adeno-associated viral vectors (AAV) have been shown to be safe in the treatment of retinal degenerations in clinical trials. Thus, improving the efficiency of viral gene delivery has become increasingly important to increase the success of clinical ...
Peter Charbel Issa, Samantha R De Silva, Daniel M Lipinski, Mandeep S Singh, Alexandre Mouravlev, Qisheng You, Alun R Barnard, Mark W Hankins, Matthew J During, Robert E Maclaren   +9 more
doaj   +1 more source

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence StudyMonoallelic ABCA4 Mutations: A Phenotype Study [PDF]

, 2015
PurposeTo investigate the effect of ABCA4 mutation status on lipofuscin-related quantitative autofluorescence (qAF) in humans and on bisretinoid accumulation in mice.MethodsGenotyped parents (n = 26; age 37-64 years) of patients with biallelic ABCA4 ...
Gliem, Martin, Radu, Roxana A, Müller, Philipp L, Jiang, Zhichun, Bolz, Hanno J, Betz, Christian, McGuinness, Myra, Weber, Bernhard HF, MacLaren, Robert E, Issa, Peter Charbel, Finger, Robert P, Holz, Frank G, Mangold, Elisabeth   +12 more
core   +1 more source

Interruption of the visual cycle in a novel animal model induces progressive vision loss resembling Stargardts Disease

Scientific Reports
Mutations in the gene ABCA4 coding for photoreceptor-specific ATP-binding cassette subfamily A member 4, are responsible for Stargardts Disease type 1 (STGD1), the most common form of inherited macular degeneration. STGD1 typically declares early in life
Fabiana Sassone, Catherine Estay-Ahumada, Michel J. Roux, Dominique Ciocca, Paola Rossolillo, Marie-Christine Birling, Janet R. Sparrow, Diego Montenegro, David Hicks   +8 more
doaj   +1 more source

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan

npj Genomic Medicine, 2021
Inherited retinal degenerations (IRDs) are a group of phenotypically and genotypically heterogeneous disorders with substantial socioeconomic impact. In this cohort study, we tried to address the genetic characteristics and epidemiology of IRDs in Taiwan.
Ta-Ching Chen, Ding-Siang Huang, Chao-Wen Lin, Chang-Hao Yang, Chung-May Yang, Victoria Y. Wang, Jou-Wei Lin, Allen Chilun Luo, Fung-Rong Hu, Pei-Lung Chen   +9 more
doaj   +1 more source

Evaluation of the ELOVL4, PRPH2 and ABCA4 genes in patients with Stargardt macular degeneration

Molecular Medicine Reports, 2012
Mutations in the ATP-binding cassette, subfamily A, member 4 (ABCA4), elongation of very long chain fatty acids 4 (ELOVL4) and peripherin-2 (PRPH2) genes have been identified in patients with Stargardt macular degeneration (STGD).
Junhui, Yi, Shiqiang, Li, Xiaoyun, Jia, Xueshan, Xiao, Panfeng, Wang, Xiangming, Guo, Qingjiong, Zhang   +6 more
openaire   +3 more sources

21‐Hydroxylase Deficient Congenital Adrenal Hyperplasia Due to Maternal Uniparental Isodisomy

Case Reports in Endocrinology, Volume 2026, Issue 1, 2026.
Congenital adrenal hyperplasia (CAH) due to 21‐hydroxylase deficiency (21‐OHD CAH) is an autosomal recessive genetic condition that results from pathogenic variants in the CYP21A2 gene. Noncarrier parents are found in a small percentage of cases, typically due to de novo variants. However, uniparental disomy (UPD) should also be considered.
Michelle L. Kluge, Lynn Schema, Katy Schroepfer, Emily K. Thoreson, Kyriakie Sarafoglou, Ross A. Rowsey, Cherisse A. Marcou, Ann M. Moyer, Matthew J. Schultz, Kalyani Sen   +9 more
wiley   +1 more source