Genome editing as a treatment for the most prevalent causative genes of autosomal dominant retinitis pigmentosa
M Diakatou, G Manes, B Bocquet, I Meunier… - International journal of …, 2019 - mdpi.com
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of
diseases with more than 250 causative genes. The most common form is retinitis …
diseases with more than 250 causative genes. The most common form is retinitis …
Genetic treatment for autosomal dominant inherited retinal dystrophies: approaches, challenges and targeted genotypes
MD Varela, A Georgiadis, M Michaelides - British Journal of …, 2023 - bjo.bmj.com
Inherited retinal diseases (IRDs) have been in the front line of gene therapy development for
the last decade, providing a useful platform to test novel therapeutic approaches. More than …
the last decade, providing a useful platform to test novel therapeutic approaches. More than …
Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases
I Audo, KM Bujakowska, T Léveillard… - Orphanet journal of rare …, 2012 - Springer
Background Inherited retinal disorders are clinically and genetically heterogeneous with
more than 150 gene defects accounting for the diversity of disease phenotypes. So far …
more than 150 gene defects accounting for the diversity of disease phenotypes. So far …
Next-generation sequencing applied to a large French cone and cone-rod dystrophy cohort: mutation spectrum and new genotype-phenotype correlation
E Boulanger-Scemama, S El Shamieh… - Orphanet journal of rare …, 2015 - Springer
Background Cone and cone-rod dystrophies are clinically and genetically heterogeneous
inherited retinal disorders with predominant cone impairment. They should be distinguished …
inherited retinal disorders with predominant cone impairment. They should be distinguished …
Mutations in splicing factor genes are a major cause of autosomal dominant retinitis pigmentosa in Belgian families
C Van Cauwenbergh, F Coppieters, D Roels… - PloS one, 2017 - journals.plos.org
Purpose Autosomal dominant retinitis pigmentosa (adRP) is characterized by an extensive
genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 …
genetic heterogeneity, implicating 27 genes, which account for 50 to 70% of cases. Here 86 …
[HTML][HTML] Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress
Y Liu, X Zong, W Cao, W Zhang, N Zhang, N Yang - Biomolecules, 2024 - mdpi.com
Retinitis pigmentosa (RP) poses a significant threat to eye health worldwide, with
prevalence rates of 1 in 5000 worldwide. This genetically diverse retinopathy is …
prevalence rates of 1 in 5000 worldwide. This genetically diverse retinopathy is …
Genotype and phenotype studies in autosomal dominant retinitis pigmentosa (adRP) of the French Canadian founder population
Purpose: The French Canadian population of Quebec is a unique, well-known founder
population with religious, linguistic, and geographic isolation. The genetics of retinitis …
population with religious, linguistic, and geographic isolation. The genetics of retinitis …
A reverse genetic approach identifies an ancestral frameshift mutation in RP1 causing recessive progressive retinal degeneration in European cattle breeds
P Michot, S Chahory, A Marete, C Grohs… - Genetics Selection …, 2016 - Springer
Background Domestication and artificial selection have resulted in strong genetic drift,
relaxation of purifying selection and accumulation of deleterious mutations. As a …
relaxation of purifying selection and accumulation of deleterious mutations. As a …
Identification of an RP1 prevalent founder mutation and related phenotype in Spanish patients with early-onset autosomal recessive retinitis
A Avila-Fernandez, M Corton, KM Nishiguchi… - Ophthalmology, 2012 - Elsevier
OBJECTIVE: To identify the genetic causes underlying early-onset autosomal recessive
retinitis pigmentosa (arRP) in the Spanish population and describe the associated …
retinitis pigmentosa (arRP) in the Spanish population and describe the associated …
Variant profiling of a large cohort of 138 Chinese families with autosomal dominant retinitis pigmentosa
T Xiao, Y Xie, X Zhang, K Xu, X Zhang… - Frontiers in cell and …, 2021 - frontiersin.org
Retinitis pigmentosa (RP) is the most common form of inherited retinal dystrophy, and 15–
25% of RP is transmitted as an autosomal dominant (ad) trait. The objectives of this study …
25% of RP is transmitted as an autosomal dominant (ad) trait. The objectives of this study …