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

por Rai, Dilip, Iwanami, Masaki, Takahashi, Yoriko, Komuta, Yukari, Aoi, Noriyuki, Umezawa, Akihiro, Seko, Yuko
Publicado 2022

The manner of decay of genetically defective EYS gene transcripts in photoreceptor-directed fibroblasts derived from retinitis pigmentosa patients depends on the type of mutation

por Seko, Yuko, Iwanami, Masaki, Miyamoto-Matsui, Kiyoko, Takita, Shimpei, Aoi, Noriyuki, Umezawa, Akihiro, Kato, Seishi
Publicado 2018

Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa

por Iwanami, Masaki, Oishi, Akio, Ogino, Ken, Seko, Yuko, Nishida-Shimizu, Tomomi, Yoshimura, Nagahisa, Kato, Seishi
Publicado 2019