Evaluation of photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients with defects in the EYS gene: a possible cost-effective cellular model for mechanism-oriented drug

Evaluation of photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients with defects in the EYS gene: a possible cost-effective cellular model for mechanism-oriented drug

Background: The most common gene responsible for autosomal recessive retinitis pigmentosa (RP) is EYS. The manner of decay of genetically defective EYS gene transcripts varies depending on the type of mutation using our cellular model, which consists of induced photoreceptor-directed fibroblasts fro...

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Bibliographic Details
Main Authors: Aoi, N. (Author), Iwanami, M. (Author), Komuta, Y. (Author), Rai, D. (Author), Seko, Y. (Author), Takahashi, Y. (Author), Umezawa, A. (Author)
Format: Article
Language:English
Published: BioMed Central Ltd 2022
Subjects:
4-PBA
cost benefit analysis
Cost-Benefit Analysis
CRYGD
Dermal fibroblast
Disease modeling
dna mutational analysis
DNA Mutational Analysis
ER stress
eye protein
Eye Proteins
EYS
EYS protein, human
F2R
fibroblast
Fibroblasts
genetics
human
Humans
metabolism
mutation
Mutation
pathology
pedigree
Pedigree
phosphatidylinositol 3 kinase
Phosphatidylinositol 3-Kinases
Photoreceptor
Redirect differentiation
retinitis pigmentosa
Retinitis pigmentosa
Retinitis Pigmentosa
rhodopsin
Rhodopsin
Semiquantitative analysis
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