Results 41 to 50 of about 2,525,884 (192)

Identification of Four Novel Variants and Determination of Genotype–Phenotype Correlations for ABCA4 Variants Associated With Inherited Retinal Degenerations

Frontiers in Cell and Developmental Biology, 2021
PurposeThe purpose of the study is to describe the genetic and clinical features of 17 patients with ABCA4-related inherited retinal degenerations (IRDs) and define the phenotype–genotype correlations.MethodsIn this multicenter retrospective study, 17 ...
Qing Zhu, Xue Rui, Ya Li, Ya Li, Ya You, Ya You, Xun-Lun Sheng, Bo Lei, Bo Lei   +8 more
doaj   +1 more source

Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients

Molecular Therapy: Nucleic Acids, 2023
Inherited retinal dystrophies comprise a broad group of genetic eye diseases without effective treatment. Among them, Stargardt disease is the second most prevalent pathology.
Laura Siles, Sheila Ruiz-Nogales, Arnau Navinés-Ferrer, Pilar Méndez-Vendrell, Esther Pomares   +4 more
doaj   +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

Common ABCA4 mutations in South Africans: frequencies, pathogenicity and genotype-phenotype correlations [PDF]

, 2010
Stargardt disease (STGD), a juvenile-onset form of macular dystrophy resulting in a severe reduction of central vision, may be inherited in either an autosomal recessive or autosomal dominant manner.
Nossek, C
core   +1 more source

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease

Molecular Therapy: Nucleic Acids, 2020
Stargardt disease is a progressive retinal disorder caused by bi-allelic mutations in the ABCA4 gene that encodes the ATP-binding cassette, subfamily A, member 4 transporter protein.
Mubeen Khan, Gavin Arno, Ana Fakin, David A. Parfitt, Patty P.A. Dhooge, Silvia Albert, Nathalie M. Bax, Lonneke Duijkers, Michael Niblock, Kwan L. Hau, Edward Bloch, Elena R. Schiff, Davide Piccolo, Michael C. Hogden, Carel B. Hoyng, Andrew R. Webster, Frans P.M. Cremers, Michael E. Cheetham, Alejandro Garanto, Rob W.J. Collin   +19 more
doaj   +1 more source

The Scope of Pathogenic ABCA4 Mutations Targetable by CRISPR DNA Base Editing Systems—A Systematic Review

Frontiers in Genetics, 2022
Stargardt macular dystrophy (STGD1) is the most common form of inherited childhood blindness worldwide and for which no current treatments exist. It is an autosomal recessive disease caused by mutations in ABCA4.
Elena Piotter, Michelle E. McClements, Robert E. MacLaren, Robert E. MacLaren   +3 more
doaj   +1 more source

Exome sequencing analysis identifies novel homozygous mutation in ABCA4 in a Chinese family with Stargardt disease [PDF]

International Journal of Ophthalmology, 2020
AIM: To identify the disease-associated mutations in a Chinese Stargardt disease (STGD) family, extend the existing spectrum of disease-causing mutations and further define the genotype-phenotype correlations.
Xiao-Dan Hao, Ying Liu, Bao-Wei Li, Wei Wu, Xiao-Wen Zhao   +4 more
doaj   +1 more source

Genetic characterization of Stargardt clinical phenotype in South Indian patients using sanger and targeted sequencing

Eye and Vision, 2020
Background Stargardt disease 1 (STGD1; MIM 248200) is a monogenic form of autosomal recessive genetic disease caused by mutation in ABCA4. This gene has a major role in hydrolyzing N-retinylidene-phosphatidylethanolamine to all-trans-retinal and ...
Rajendran Kadarkarai Raj, Pankaja Dhoble, Rupa Anjanamurthy, Prakash Chermakani, Manojkumar Kumaran, Bharanidharan Devarajan, Periasamy Sundaresan   +6 more
doaj   +1 more source

Representation of women among individuals with mild variants in ABCA4-associated retinopathy: A meta-analysis [PDF]

Importance Previous studies indicated that female sex might be a modifier in Stargardt disease, which is an ABCA4-associated retinopathy.Objective To investigate whether women are overrepresented among individuals with ABCA4-associated retinopathy who ...
Simcoe, M., Sharon, D., Dhaenens, C., IntHout, J., Lin, S., Runhart, E., Corradi, Z., Webster, A., Hitti-Malin, R., Mahroo, O., Arno, G., Khan, M., Farrar, G., Cornelis, S., Grunewald, O., Whelan, L., van den Born, L., Cremers, F., Michaelides, M., Roosing, S.   +19 more
core   +1 more source

Expression of the Abca-subfamily of genes in Abcc6−/− mice - upregulation of Abca4 [PDF]

Experimental Dermatology, 2011
Pseudoxanthoma elasticum (PXE), a heritable multi-system disorder, is caused by mutations in the ABCC6 gene primarily expressed in the liver. Recent analysis of cultured fibroblasts from patients with PXE has suggested compensatory alterations in the expression of the ABCA-subfamily of genes.
Li, Qiaoli, Uitto, Jouni
openaire   +3 more sources