Cargando…

Identification of Novel Mutations in ABCA4 Gene: Clinical and Genetic Analysis of Indian Patients with Stargardt Disease

Stargardt disease (STGD) is the leading cause of juvenile macular degeneration associated with progressive central vision loss, photophobia, and colour vision abnormalities. In this study, we have described the clinical and genetic features of Stargardt patients from an Indian cohort. The next gener...

Descripción completa

Detalles Bibliográficos
Autores principales:	Battu, Rajani, Verma, Anshuman, Hariharan, Ramesh, Krishna, Shuba, Kiran, Ravi, Jacob, Jemima, Ganapathy, Aparna, Ramprasad, Vedam L., Kumaramanickavel, Govindasamy, Jeyabalan, Nallathambi, Ghosh, Arkasubhra
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Hindawi Publishing Corporation 2015
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4398921/ https://www.ncbi.nlm.nih.gov/pubmed/25922843 http://dx.doi.org/10.1155/2015/940864

Ejemplares similares

Retinoblastoma genetics screening and clinical management
por: Gupta, Himika, et al.
Publicado: (2021)

Next generation sequencing identifies novel disease-associated BEST1 mutations in Bestrophinopathy patients
por: Nguyen, Thong T., et al.
Publicado: (2018)

Genetic analysis and clinical phenotype of two Indian families with X-linked choroideremia
por: Battu, Rajani, et al.
Publicado: (2016)

Two novel missense substitutions in the VSX1 gene: clinical and genetic analysis of families with Keratoconus from India
por: Shetty, Rohit, et al.
Publicado: (2015)

Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus
por: Jeyabalan, Nallathambi, et al.
Publicado: (2013)

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

Association of non-synonymous single nucleotide polymorphisms in the LOXL1 gene with pseudoexfoliation syndrome in India
por: Ramprasad, Vedam Lakshmi, et al.
Publicado: (2008)

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

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)

Rare eye diseases in India: A concise review of genes and genetics
por: Jeyabalan, Nallathambi, et al.
Publicado: (2022)

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)

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

Exome Sequencing Is an Efficient Tool for Variant Late-Infantile Neuronal Ceroid Lipofuscinosis Molecular Diagnosis
por: Patiño, Liliana Catherine, et al.
Publicado: (2014)

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)

Chloroquine Protects Human Corneal Epithelial Cells from Desiccation Stress Induced Inflammation without Altering the Autophagy Flux
por: Shivakumar, Shivapriya, et al.
Publicado: (2018)

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)

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)

Cannot write session to /tmp/vufind_sessions/sess_542g74h5gul9e8f7b388n0m5e8