Cargando…

Functional characterization of ABCA4 genetic variants related to Stargardt disease

The ATP-binding cassette subfamily 4 (ABCA4), a transporter, is localized within the photoreceptors of the retina, and its genetic variants cause retinal dystrophy. Despite the clinical importance of the ABCA4 transporter, a few studies have investigated the function of each variant. In this study,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kim, Bo Min, Song, Hyo Sook, Kim, Jin-Young, Kwon, Eun Young, Ha, Seung Yeon, Kim, Minsuk, Choi, Ji Ha
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9790013/ https://www.ncbi.nlm.nih.gov/pubmed/36566289 http://dx.doi.org/10.1038/s41598-022-26912-6

Ejemplares similares

Functional Characterization of ABCA4 Missense Variants Linked to Stargardt Macular Degeneration
por: Garces, Fabian A., et al.
Publicado: (2020)

Novel variants of ABCA4 in Han Chinese families with Stargardt disease
por: Hu, Fang-Yuan, et al.
Publicado: (2020)

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease
por: Salles, Mariana Vallim, et al.
Publicado: (2018)

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease
por: Braun, Terry A., et al.
Publicado: (2013)

Detailed Phenotyping and Therapeutic Strategies for Intronic ABCA4 Variants in Stargardt Disease
por: Khan, Mubeen, et al.
Publicado: (2020)

Macular hyperpigmentary changes in ABCA4-Stargardt disease
por: Abalem, Maria Fernanda, et al.
Publicado: (2019)

Stargardt disease-associated missense and synonymous ABCA4 variants result in aberrant splicing
por: Kaltak, Melita, et al.
Publicado: (2023)

ABCA4 Gene Screening in a Chinese Cohort With Stargardt Disease: Identification of 37 Novel Variants
por: Hu, Fang-Yuan, et al.
Publicado: (2019)

Correlating the Expression and Functional Activity of ABCA4 Disease Variants With the Phenotype of Patients With Stargardt Disease
por: Garces, Fabian, et al.
Publicado: (2018)

Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease
por: Xiang, Qin, et al.
Publicado: (2019)

Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
por: Whelan, Laura, et al.
Publicado: (2023)

ABCA4 c.6480-35A>G, a novel branchpoint variant associated with Stargardt disease
por: Rodríguez-Hidalgo, María, et al.
Publicado: (2023)

Clinical and genetic analyses reveal novel pathogenic ABCA4 mutations in Stargardt disease families
por: Lin, Bing, et al.
Publicado: (2016)

OCT3 promoter haplotype is associated with metformin pharmacokinetics in Koreans
por: Kwon, Eun Young, et al.
Publicado: (2018)

Stargardt disease-associated in-frame ABCA4 exon 17 skipping results in significant ABCA4 function
por: Kaltak, Melita, et al.
Publicado: (2023)

Deep Learning to Distinguish ABCA4-Related Stargardt Disease from PRPH2-Related Pseudo-Stargardt Pattern Dystrophy
por: Miere, Alexandra, et al.
Publicado: (2021)

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease
por: Battu, Rajani, et al.
Publicado: (2015)

Subretinal Fibrosis in Stargardt's Disease with Fundus Flavimaculatus and ABCA4 Gene Mutation
por: Rossi, Settimio, et al.
Publicado: (2012)

Penetrance of the ABCA4 p.Asn1868Ile Allele in Stargardt Disease
por: Allikmets, Rando, et al.
Publicado: (2018)

Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients
por: Darbari, Ensieh, et al.
Publicado: (2022)

Stargardt Disease Due to an Intronic Mutation in the ABCA4: A Case Report
por: Lugo-Merly, Ambar, et al.
Publicado: (2022)

Updates on Emerging Interventions for Autosomal Recessive ABCA4-Associated Stargardt Disease
por: Wang, Liang, et al.
Publicado: (2023)

Extremely hypomorphic and severe deep intronic variants in the ABCA4 locus result in varying Stargardt disease phenotypes
por: Zernant, Jana, et al.
Publicado: (2018)

Prevalence of ABCA4 Deep-Intronic Variants and Related Phenotype in An Unsolved “One-Hit” Cohort with Stargardt Disease
por: Nassisi, Marco, et al.
Publicado: (2019)

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease
por: Zernant, Jana, et al.
Publicado: (2022)

ABCA4 midigenes reveal the full splice spectrum of all reported noncanonical splice site variants in Stargardt disease
por: Sangermano, Riccardo, et al.
Publicado: (2018)

The impact of the c.5603A>T hypomorphic variant on founder mutation screening of ABCA4 for Stargardt disease in South Africa
por: Midgley, Nicole, et al.
Publicado: (2020)

Efficient correction of ABCA4 variants by CRISPR-Cas9 in hiPSCs derived from Stargardt disease patients
por: Siles, Laura, et al.
Publicado: (2023)

ABCA4 mutations in Portuguese Stargardt patients: identification of new mutations and their phenotypic analysis
por: Maia-Lopes, Susana, et al.
Publicado: (2009)

Novel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
por: Zhang, Jianping, et al.
Publicado: (2016)

Expression of ABCA4 in the retinal pigment epithelium and its implications for Stargardt macular degeneration
por: Lenis, Tamara L., et al.
Publicado: (2018)

An ABCA4 loss-of-function mutation causes a canine form of Stargardt disease
por: Mäkeläinen, Suvi, et al.
Publicado: (2019)

Analysis of retinal sublayer thicknesses and rates of change in ABCA4-associated Stargardt disease
por: Whitmore, S. Scott, et al.
Publicado: (2020)

Cell-Type-Specific Complement Profiling in the ABCA4(−/−) Mouse Model of Stargardt Disease
por: Jabri, Yassin, et al.
Publicado: (2020)

Assessment of AAV Dual Vector Safety in the Abca4(−)(/)(−) Mouse Model of Stargardt Disease
por: McClements, Michelle E., et al.
Publicado: (2020)

Antioxidant Saffron and Central Retinal Function in ABCA4-Related Stargardt Macular Dystrophy
por: Piccardi, Marco, et al.
Publicado: (2019)

Deep-intronic ABCA4 variants explain missing heritability in Stargardt disease and allow correction of splice defects by antisense oligonucleotides
por: Sangermano, Riccardo, et al.
Publicado: (2019)

Correction of the Splicing Defect Caused by a Recurrent Variant in ABCA4 (c.769-784C>T) That Underlies Stargardt Disease
por: Tomkiewicz, Tomasz Z., et al.
Publicado: (2022)

Antisense oligonucleotide therapy corrects splicing in the common Stargardt disease type 1-causing variant ABCA4 c.5461-10T>C
por: Kaltak, Melita, et al.
Publicado: (2023)

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort
por: Nassisi, Marco, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_tj6ktr64sq26g3boaces2l2icd