Cargando…

Carrier frequency and incidence estimation of RPE65-associated inherited retinal diseases in East Asian population by population database-based analysis

BACKGROUND: Inherited retinal diseases (IRDs) are clinically and genetically heterogenous disorders leading to visual impairment and blindness. Because gene therapy for RPE65-associated IRDs was recently approved, it is necessary to predict the carrier frequency and prevalence for RPE65-associated I...

Descripción completa

Detalles Bibliográficos
Autores principales:	Cho, Eun Hye, Park, Jong Eun, Lee, Taeheon, Ha, Kyeongsu, Ki, Chang-Seok
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2022
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9644481/ https://www.ncbi.nlm.nih.gov/pubmed/36352427 http://dx.doi.org/10.1186/s13023-022-02566-5

Ejemplares similares

Carrier frequency and incidence estimation of familial hemophagocytic lymphohistiocytosis in East Asian populations by genome aggregation database (gnomAD) based analysis
por: Park, Jong Eun, et al.
Publicado: (2022)

Carrier frequency and incidence estimation of Smith–Lemli–Opitz syndrome in East Asian populations by Genome Aggregation Database (gnomAD) based analysis
por: Park, Jong Eun, et al.
Publicado: (2021)

Frequency and phenotypic characteristics of RPE65 mutations in the Chinese population
por: Gao, Feng-Juan, et al.
Publicado: (2021)

Cost Effectiveness of Voretigene Neparvovec for RPE65-Mediated Inherited Retinal Degeneration in Germany
por: Uhrmann, Matthias Fritz, et al.
Publicado: (2020)

RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
por: Sodi, Andrea, et al.
Publicado: (2021)

Frequency of RPE65 Gene Mutation in Patients with Hereditary Retinal Dystrophy
por: Sinim Kahraman, Neslihan, et al.
Publicado: (2022)

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy
por: Aoun, Manar, et al.
Publicado: (2021)

Retinal Structure in RPE65-Associated Retinal Dystrophy
por: Kumaran, Neruban, et al.
Publicado: (2020)

An Economic Evaluation of Voretigene Neparvovec for the Treatment of Biallelic RPE65-Mediated Inherited Retinal Dystrophies in the UK
por: Viriato, Daniel, et al.
Publicado: (2020)

Cost-effectiveness of voretigene neparvovec in the treatment of patients with inherited retinal disease with RPE65 mutation in Switzerland
por: Bhadhuri, Arjun, et al.
Publicado: (2022)

A Molecular Genetic Analysis of RPE65-Associated Forms of Inherited Retinal Degenerations in the Russian Federation
por: Stepanova, Anna, et al.
Publicado: (2023)

Epidemiology of Mutations in the 65-kDa Retinal Pigment Epithelium (RPE65) Gene-Mediated Inherited Retinal Dystrophies: A Systematic Literature Review
por: Sallum, Juliana M. F., et al.
Publicado: (2022)

Voretigene Neparvovec for the Treatment of RPE65-associated Retinal Dystrophy: Consensus and Recommendations from the Korea RPE65-IRD Consensus Paper Committee
por: Han, Jinu, et al.
Publicado: (2023)

Visual function and retinal changes after voretigene neparvovec treatment in children with biallelic RPE65-related inherited retinal dystrophy
por: Testa, Francesco, et al.
Publicado: (2022)

Cost-effectiveness of Voretigene Neparvovec-rzyl vs Standard Care for RPE65-Mediated Inherited Retinal Disease
por: Johnson, Scott, et al.
Publicado: (2019)

Estimation of impact of RPE65-mediated inherited retinal disease on quality of life and the potential benefits of gene therapy
por: Lloyd, Andrew, et al.
Publicado: (2019)

Clinical Features and Natural History in a Cohort of Chinese Patients with RPE65-Associated Inherited Retinal Dystrophy
por: Shi, Jie, et al.
Publicado: (2021)

Methodological Challenges in the Economic Evaluation of a Gene Therapy for RPE65-Mediated Inherited Retinal Disease: The Value of Vision
por: Huygens, Simone A., et al.
Publicado: (2021)

Safety and Proof-of-Concept Study of Oral QLT091001 in Retinitis Pigmentosa Due to Inherited Deficiencies of Retinal Pigment Epithelial 65 Protein (RPE65) or Lecithin:Retinol Acyltransferase (LRAT)
por: Scholl, Hendrik P. N., et al.
Publicado: (2015)

A Comprehensive Study of the Retinal Phenotype of Rpe65-Deficient Dogs
por: Annear, Matthew J, et al.
Publicado: (2021)

Development of a novel prediction model based on protein structure for identifying RPE65-associated inherited retinal disease (IRDs) of missense variants
por: Wu, Jiawen, et al.
Publicado: (2023)

Differential neuroglycan C expression during retinal degeneration in Rpe65(−/−) mice
por: Escher, Pascal, et al.
Publicado: (2008)

Novel mutations in RPE65 identified in consanguineous Pakistani families with retinal dystrophy
por: Kabir, Firoz, et al.
Publicado: (2013)

The clinical features of retinal disease due to a dominant mutation in RPE65
por: Hull, Sarah, et al.
Publicado: (2016)

Care Pathway of RPE65-Related Inherited Retinal Disorders from Early Symptoms to Genetic Counseling: A Multicenter Narrative Medicine Project in Italy
por: Simonelli, Francesca, et al.
Publicado: (2021)

RPE65-Associated Retinopathies in the Italian Population: A Longitudinal Natural History Study
por: Testa, Francesco, et al.
Publicado: (2022)

Evaluation for Retinal Therapy for RPE65 Variation Assessed in hiPSC Retinal Pigment Epithelial Cells
por: Nash, Benjamin M., et al.
Publicado: (2021)

Validation of a Vision-Guided Mobility Assessment for RPE65-Associated Retinal Dystrophy
por: Kumaran, Neruban, et al.
Publicado: (2020)

The interplay of environmental luminance and genetics in the retinal dystrophy induced by the dominant RPE65 mutation
por: Wu, Wenjing, et al.
Publicado: (2022)

Outcomes and Adverse Effects of Voretigene Neparvovec Treatment for Biallelic RPE65-Mediated Inherited Retinal Dystrophies in a Cohort of Patients from a Single Center
por: Kiraly, Peter, et al.
Publicado: (2023)

Lentiviral mediated RPE65 gene transfer in healthy hiPSCs-derived retinal pigment epithelial cells markedly increased RPE65 mRNA, but modestly protein level
por: Udry, Florian, et al.
Publicado: (2020)

M-opsin protein degradation is inhibited by MG-132 in Rpe65(−/−) retinal explant culture
por: Sato, Kota, et al.
Publicado: (2012)

Early onset flecked retinal dystrophy associated with new compound heterozygous RPE65 variants
por: Katagiri, Satoshi, et al.
Publicado: (2018)

Short-Term Outcomes of the First in Vivo Gene Therapy for RPE65-Mediated Retinitis Pigmentosa
por: Kwak, Jay Jiyong, et al.
Publicado: (2022)

Long-Term Follow-Up of a Family with Retinal Dystrophy Caused by RPE65 Mutation
por: Jánossy, Ágnes, et al.
Publicado: (2023)

Carrier Frequency of Spinal Muscular Atrophy in a Large-scale Korean Population
por: Park, Jong Eun, et al.
Publicado: (2020)

EvoSNP-DB: A database of genetic diversity in East Asian populations
por: Kim, Young Uk, et al.
Publicado: (2013)

Prospect of retinal gene therapy following commercialization of voretigene neparvovec-rzyl for retinal dystrophy mediated by RPE65 mutation
por: Ameri, Hossein
Publicado: (2018)

Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population
por: Zhong, Zilin, et al.
Publicado: (2019)

A Cross-Sectional and Longitudinal Study of Retinal Sensitivity in RPE65-Associated Leber Congenital Amaurosis
por: Kumaran, Neruban, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_lu3nt8tsnk32qcmulnjht3r02m