Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases
Y Liang, X Sun, C Duan, S Tang, J Chen - Stem Cell Research & Therapy, 2023 - Springer
Inherited retinal diseases (IRDs) can induce severe sight-threatening retinal degeneration
and impose a considerable economic burden on patients and society, making efforts to cure …
and impose a considerable economic burden on patients and society, making efforts to cure …
The first genetic landscape of inherited retinal dystrophies in Portuguese patients identifies recurrent homozygous mutations as a frequent cause of pathogenesis
VG Peter, K Kaminska, C Santos, M Quinodoz… - PNAS …, 2023 - academic.oup.com
Inherited retinal diseases (IRDs) are a group of ocular conditions characterized by an
elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as …
elevated genetic and clinical heterogeneity. They are transmitted almost invariantly as …
[HTML][HTML] Gene therapy for RAB28: What can we learn from zebrafish?
The eye is particularly suited to gene therapy due to its accessibility, immunoprivileged state
and compartmentalised structure. Indeed, many clinical trials are underway for therapeutic …
and compartmentalised structure. Indeed, many clinical trials are underway for therapeutic …
Spectrum of variants associated with inherited retinal dystrophies in Northeast Mexico
RA Villafuerte-de la Cruz, LA Garza-Garza… - BMC …, 2024 - Springer
Background Inherited retinal dystrophies are hereditary diseases which have in common the
progressive degeneration of photoreceptors. They are a group of diseases with clinical …
progressive degeneration of photoreceptors. They are a group of diseases with clinical …
CRB1-associated retinal dystrophy patients have expanded Lewis glycoantigen-positive T cells
L Moekotte, JJW Kuiper, S Hiddingh… - … & visual science, 2023 - iovs.arvojournals.org
Purpose: Eye inflammation may occur in patients with inherited retinal dystrophies (IRDs)
and is seen frequently in IRDs associated with mutations in the CRB1 gene. The purpose of …
and is seen frequently in IRDs associated with mutations in the CRB1 gene. The purpose of …
Nationwide genetic analysis of more than 600 families with inherited eye diseases in Argentina
PG Schlottmann, JD Luna, N Labat… - NPJ Genomic …, 2023 - nature.com
This study corresponds to the first large-scale genetic analysis of inherited eye diseases
(IED) in Argentina and describes the comprehensive genetic profile of a large cohort of …
(IED) in Argentina and describes the comprehensive genetic profile of a large cohort of …
Dawn and dusk peaks of outer segment phagocytosis, and visual cycle function require Rab28
RAB28 is a farnesylated, ciliary G‐protein. Patient variants in RAB28 are causative of
autosomal recessive cone‐rod dystrophy (CRD), an inherited human blindness. In rodent …
autosomal recessive cone‐rod dystrophy (CRD), an inherited human blindness. In rodent …
Detailed phenotype and long-term follow-up of RAB28-associated cone-rod dystrophy
NT Rao, A Sumaroka, AJ Santos… - Ophthalmic …, 2024 - Taylor & Francis
Purpose To gain an insight into the pathophysiology of RAB28-associated inherited retinal
degeneration through detailed phenotyping and long-term longitudinal follow-up. Methods …
degeneration through detailed phenotyping and long-term longitudinal follow-up. Methods …
Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth …
GE Fabian‐Morales… - … Genetics & Genomic …, 2024 - Wiley Online Library
ABSTRACT Background Retinal dystrophies (RDs) are the most common cause of inherited
blindness worldwide and are caused by genetic defects in about 300 different genes. While …
blindness worldwide and are caused by genetic defects in about 300 different genes. While …
[HTML][HTML] Retinitis pigmentosa in the Puerto Rican population: a geographic distribution
DF Santos, LJM Thurin, JG Vargas… - Clinical …, 2022 - ncbi.nlm.nih.gov
Background Previous studies have reported on retinitis pigmentosa (RP) in Puerto Rico.
Information on the geographic distribution of RP mutations in Puerto Rico may lead to higher …
Information on the geographic distribution of RP mutations in Puerto Rico may lead to higher …