Cargando…

Variants in the ABCA4 gene in a Brazilian population with Stargardt disease

PURPOSE: The aim of this study was to analyze and report pathogenic variants in the ABCA4 gene in Brazilian patients with a clinical diagnosis of Stargardt disease. METHODS: This retrospective study evaluated variants in the ABCA4 gene in Brazilian patients with Stargardt disease. The patients’ visu...

Descripción completa

Detalles Bibliográficos
Autores principales:	Salles, Mariana Vallim, Motta, Fabiana Louise, Martin, Renan, Filippelli-Silva, Rafael, Dias da Silva, Elton, Varela, Patricia, Costa, Kárita Antunes, Chiang, John PeiWen, Pesquero, João Bosco, Sallum, Juliana-Maria Ferraz
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Molecular Vision 2018
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6070459/ https://www.ncbi.nlm.nih.gov/pubmed/30093795

Ejemplares similares

The correlation between CRB1 variants and the clinical severity of Brazilian patients with different inherited retinal dystrophy phenotypes
por: Motta, Fabiana Louise, et al.
Publicado: (2017)

Gene panel sequencing in Brazilian patients with retinitis pigmentosa
por: Costa, Kárita Antunes, et al.
Publicado: (2017)

Relative frequency of inherited retinal dystrophies in Brazil
por: Motta, Fabiana Louise, et al.
Publicado: (2018)

Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia
por: da Palma, Mariana Matioli, et al.
Publicado: (2020)

Retinitis Pigmentosa Due to Rp1 Biallelic Variants
por: Silva, Rita Sousa, et al.
Publicado: (2020)

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

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

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

Functional characterization of ABCA4 genetic variants related to Stargardt disease
por: Kim, Bo Min, et al.
Publicado: (2022)

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)

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

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)

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)

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

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)

Expanding the Phenotypic and Genotypic Spectrum of Bietti Crystalline Dystrophy
por: da Palma, Mariana Matioli, et al.
Publicado: (2021)

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)

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

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

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)

Frequency of ABCA4 mutations in 278 Spanish controls: an insight into the prevalence of autosomal recessive Stargardt disease
por: Riveiro-Alvarez, R, et al.
Publicado: (2009)

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

Molecular Analysis of the ABCA4 Gene Mutations in Patients with Stargardt Disease Using Human Hair Follicles
por: Ścieżyńska, Aneta, et al.
Publicado: (2020)

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

Cryo-EM structures of the ABCA4 importer reveal mechanisms underlying substrate binding and Stargardt disease
por: Scortecci, Jessica Fernandes, et al.
Publicado: (2021)

Retinal-phospholipid Schiff-base conjugates and their interaction with ABCA4, the ABC transporter associated with Stargardt disease
por: Xu, Tongzhou, et al.
Publicado: (2023)

Exome Sequencing Analysis Identifies Compound Heterozygous Mutation in ABCA4 in a Chinese Family with Stargardt Disease
por: Zhou, Yu, et al.
Publicado: (2014)

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations
por: Falfoul, Yousra, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_aemr1malre12nqlvu9idvgk44o