Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Background The majority of clinical genetic testing focuses almost exclusively on regions of
the genome that directly encode proteins. The important role of variants in non-coding …
the genome that directly encode proteins. The important role of variants in non-coding …
Next-generation sequencing applications for inherited retinal diseases
A Dockery, L Whelan, P Humphries… - International Journal of …, 2021 - mdpi.com
Inherited retinal diseases (IRDs) represent a collection of phenotypically and genetically
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …
diverse conditions. IRDs phenotype (s) can be isolated to the eye or can involve multiple …
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 …
Modeling PRPF31 retinitis pigmentosa using retinal pigment epithelium and organoids combined with gene augmentation rescue
A Rodrigues, A Slembrouck-Brec, C Nanteau… - NPJ Regenerative …, 2022 - nature.com
Mutations in the ubiquitously expressed pre-mRNA processing factor (PRPF) 31 gene, one
of the most common causes of dominant form of Retinitis Pigmentosa (RP), lead to a retina …
of the most common causes of dominant form of Retinitis Pigmentosa (RP), lead to a retina …
Gene augmentation prevents retinal degeneration in a CRISPR/Cas9-based mouse model of PRPF31 retinitis pigmentosa
Mutations in PRPF31 cause autosomal dominant retinitis pigmentosa, an untreatable form of
blindness. Gene therapy is a promising treatment for PRPF31-retinitis pigmentosa, however …
blindness. Gene therapy is a promising treatment for PRPF31-retinitis pigmentosa, however …
Genome-editing strategies for treating human retinal degenerations
J Quinn, A Musa, A Kantor, ME McClements… - Human Gene …, 2021 - liebertpub.com
Inherited retinal degenerations (IRDs) are a leading cause of blindness. Although gene-
supplementation therapies have been developed, they are only available for a small …
supplementation therapies have been developed, they are only available for a small …
Unique transcriptomes of sensory and non-sensory neurons: insights from Splicing Regulatory States
L Ciampi, L Serrano, M Irimia - Molecular Systems Biology, 2024 - embopress.org
Alternative Splicing (AS) programs serve as instructive signals of cell type specificity,
particularly within the brain, which comprises dozens of molecularly and functionally distinct …
particularly within the brain, which comprises dozens of molecularly and functionally distinct …
Prpf31 is essential for the survival and differentiation of retinal progenitor cells by modulating alternative splicing
J Li, F Liu, Y Lv, K Sun, Y Zhao, J Reilly… - Nucleic acids …, 2021 - academic.oup.com
Dysfunction of splicing factors often result in abnormal cell differentiation and apoptosis,
especially in neural tissues. Mutations in pre-mRNAs processing factor 31 (PRPF31) cause …
especially in neural tissues. Mutations in pre-mRNAs processing factor 31 (PRPF31) cause …
[HTML][HTML] PRPF31-retinitis pigmentosa: Challenges and opportunities for clinical translation
H Aweidah, Z Xi, JA Sahel, LC Byrne - Vision Research, 2023 - Elsevier
Mutations in pre-mRNA processing factor 31 cause autosomal dominant retinitis pigmentosa
(PRPF31-RP), for which there is currently no efficient treatment, making this disease a prime …
(PRPF31-RP), for which there is currently no efficient treatment, making this disease a prime …
Genetic dissection of non-syndromic retinitis pigmentosa
A Bhardwaj, A Yadav, M Yadav… - Indian Journal of …, 2022 - journals.lww.com
Retinitis pigmentosa (RP) belongs to a group of pigmentary retinopathies. It is the most
common form of inherited retinal dystrophy, characterized by progressive degradation of …
common form of inherited retinal dystrophy, characterized by progressive degradation of …