Inherited retinal diseases: linking genes, disease-causing variants, and relevant therapeutic modalities
N Schneider, Y Sundaresan, P Gopalakrishnan… - Progress in retinal and …, 2022 - Elsevier
Inherited retinal diseases (IRDs) are a clinically complex and heterogenous group of visual
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
impairment phenotypes caused by pathogenic variants in at least 277 nuclear and …
Gene editing and CRISPR in the clinic: current and future perspectives
Genome editing technologies, particularly those based on zinc-finger nucleases (ZFNs),
transcription activator-like effector nucleases (TALENs), and CRISPR (clustered regularly …
transcription activator-like effector nucleases (TALENs), and CRISPR (clustered regularly …
The genetic and phenotypic landscapes of Usher syndrome: from disease mechanisms to a new classification
S Delmaghani, A El-Amraoui - Human Genetics, 2022 - Springer
Usher syndrome (USH) is the most common cause of deaf–blindness in humans, with a
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …
prevalence of about 1/10,000 (~ 400,000 people worldwide). Cochlear implants are …
Usher syndrome: clinical features, molecular genetics and advancing therapeutics
M Toms, W Pagarkar… - Therapeutic advances in …, 2020 - journals.sagepub.com
Usher syndrome has three subtypes, each being clinically and genetically heterogeneous
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …
characterised by sensorineural hearing loss and retinitis pigmentosa (RP), with or without …
[HTML][HTML] USH2A-retinopathy: From genetics to therapeutics
L Toualbi, M Toms, M Moosajee - Experimental Eye Research, 2020 - Elsevier
Bilallelic variants in the USH2A gene can cause Usher syndrome type 2 and non-syndromic
retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod …
retinitis pigmentosa. In both disorders, the retinal phenotype involves progressive rod …
Disease mechanisms and gene therapy for Usher syndrome
GGS Géléoc, A El-Amraoui - Hearing research, 2020 - Elsevier
Usher syndrome (USH) is a major cause of deaf-blindness in humans, affecting∼ 400 000
patients worldwide. Three clinical subtypes, USH1-3, have been defined, with 10 USH …
patients worldwide. Three clinical subtypes, USH1-3, have been defined, with 10 USH …
New molecular therapies for the treatment of hearing loss
An estimated 466 million people suffer from hearing loss worldwide. Sensorineural hearing
loss is characterized by degeneration of key structures of the sensory pathway in the …
loss is characterized by degeneration of key structures of the sensory pathway in the …
Genome editing in patient iPSCs corrects the most prevalent USH2A mutations and reveals intriguing mutant mRNA expression profiles
C Sanjurjo-Soriano, N Erkilic, D Baux… - … Therapy-Methods & …, 2020 - cell.com
Inherited retinal dystrophies (IRDs) are characterized by progressive photoreceptor
degeneration and vision loss. Usher syndrome (USH) is a syndromic IRD characterized by …
degeneration and vision loss. Usher syndrome (USH) is a syndromic IRD characterized by …
Usher syndrome: genetics and molecular links of hearing loss and directions for therapy
M Whatley, A Francis, ZY Ng, XE Khoh, MD Atlas… - Frontiers in …, 2020 - frontiersin.org
Usher syndrome (USH) is an autosomal recessive (AR) disorder that permanently and
severely affects the senses of hearing, vision, and balance. Three clinically distinct types of …
severely affects the senses of hearing, vision, and balance. Three clinically distinct types of …
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
A significant number of individuals with a rare disorder such as Usher syndrome (USH) and
(non-) syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically …
(non-) syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically …