CRISPR-Cas9: a preclinical and clinical perspective for the treatment of human diseases
G Sharma, AR Sharma, M Bhattacharya, SS Lee… - Molecular Therapy, 2021 - cell.com
At present, the idea of genome modification has revolutionized the modern therapeutic
research era. Genome modification studies have traveled a long way from gene …
research era. Genome modification studies have traveled a long way from gene …
Molecular basis of human Usher syndrome: deciphering the meshes of the Usher protein network provides insights into the pathomechanisms of the Usher disease
J Reiners, K Nagel-Wolfrum, K Jürgens, T Märker… - Experimental eye …, 2006 - Elsevier
Usher syndrome (USH) is the most frequent cause of combined deaf-blindness in man. It is
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …
clinically and genetically heterogeneous and at least 12 chromosomal loci are assigned to …
Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery
SG Giannelli, M Luoni, V Castoldi… - Human molecular …, 2018 - academic.oup.com
P23H is the most common mutation in the RHODOPSIN (RHO) gene leading to a dominant
form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes …
form of retinitis pigmentosa (RP), a rod photoreceptor degeneration that invariably causes …
Review and update: current treatment trends for patients with retinitis pigmentosa
K Shintani, DL Shechtman, AS Gurwood - Optometry-Journal of the …, 2009 - Elsevier
BACKGROUND: Retinitis pigmentosa (RP) is a heterogeneous group of inherited retinal
disorders characterized by progressive photoreceptor apoptosis. It is the leading cause of …
disorders characterized by progressive photoreceptor apoptosis. It is the leading cause of …
[HTML][HTML] Comprehensive molecular diagnosis of a large cohort of Japanese retinitis pigmentosa and Usher syndrome patients by next-generation sequencing
Purpose.: Retinitis pigmentosa (RP), a major cause of blindness in developed countries, has
multiple causative genes; its prevalence differs by ethnicity. Usher syndrome is the most …
multiple causative genes; its prevalence differs by ethnicity. Usher syndrome is the most …
Allele-specific inhibition of rhodopsin with an antisense oligonucleotide slows photoreceptor cell degeneration
SF Murray, A Jazayeri, MT Matthes… - … & visual science, 2015 - iovs.arvojournals.org
Purpose: To preserve photoreceptor cell structure and function in a rodent model of retinitis
pigmentosa with P23H rhodopsin by selective inhibition of the mutant rhodopsin allele using …
pigmentosa with P23H rhodopsin by selective inhibition of the mutant rhodopsin allele using …
Prevalence, age at diagnosis, mortality, and cause of death in retinitis pigmentosa in korea—a nationwide population-based study
Purpose To determine the prevalence and mortality of retinitis pigmentosa (RP) patients in
Korea. Design Population-based retrospective cohort study. Methods We used data …
Korea. Design Population-based retrospective cohort study. Methods We used data …
Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland
Retinitis pigmentosa (RP) is a group of inherited retinal disorders characterized by
progressive photoreceptor degeneration. An accurate molecular diagnosis is essential for …
progressive photoreceptor degeneration. An accurate molecular diagnosis is essential for …
[HTML][HTML] General pathophysiology in retinal degeneration
Retinal degeneration, including that seen in age-related macular degeneration and retinitis
pigmentosa (RP), is the most common form of neural degenerative disease in the world …
pigmentosa (RP), is the most common form of neural degenerative disease in the world …
[HTML][HTML] Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray
A Ávila-Fernández, D Cantalapiedra, E Aller… - Molecular …, 2010 - ncbi.nlm.nih.gov
Purpose Retinitis pigmentosa (RP) is a genetically heterogeneous disorder characterized by
progressive loss of vision. The aim of this study was to identify the causative mutations in …
progressive loss of vision. The aim of this study was to identify the causative mutations in …