A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa

Koji Nishiguchi et al. identify three genetic variants within the EYS gene that are associated with retinitis pigmentosa using a genome-wide association study. They demonstrate that one of these variants (G843E) causes retinal dysfunction in zebrafish, suggesting a causal role for EYS in retinitis p...

Descripción completa

Guardado en:
Detalles Bibliográficos
Autores principales: Koji M. Nishiguchi, Fuyuki Miya, Yuka Mori, Kosuke Fujita, Masato Akiyama, Takashi Kamatani, Yoshito Koyanagi, Kota Sato, Toru Takigawa, Shinji Ueno, Misato Tsugita, Hiroshi Kunikata, Katarina Cisarova, Jo Nishino, Akira Murakami, Toshiaki Abe, Yukihide Momozawa, Hiroko Terasaki, Yuko Wada, Koh-Hei Sonoda, Carlo Rivolta, Tatsuhiko Tsunoda, Motokazu Tsujikawa, Yasuhiro Ikeda, Toru Nakazawa
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2021
Materias:
Biology (General)
QH301-705.5
Acceso en línea:https://doaj.org/article/9d3f7ffc3efc4b0488dd8995a4248a06
Etiquetas: Agregar Etiqueta
Sin Etiquetas, Sea el primero en etiquetar este registro!
id oai:doaj.org-article:9d3f7ffc3efc4b0488dd8995a4248a06
record_format dspace
spelling oai:doaj.org-article:9d3f7ffc3efc4b0488dd8995a4248a062021-12-02T13:24:17ZA hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa10.1038/s42003-021-01662-92399-3642https://doaj.org/article/9d3f7ffc3efc4b0488dd8995a4248a062021-01-01T00:00:00Zhttps://doi.org/10.1038/s42003-021-01662-9https://doaj.org/toc/2399-3642Koji Nishiguchi et al. identify three genetic variants within the EYS gene that are associated with retinitis pigmentosa using a genome-wide association study. They demonstrate that one of these variants (G843E) causes retinal dysfunction in zebrafish, suggesting a causal role for EYS in retinitis pigmentosa.Koji M. NishiguchiFuyuki MiyaYuka MoriKosuke FujitaMasato AkiyamaTakashi KamataniYoshito KoyanagiKota SatoToru TakigawaShinji UenoMisato TsugitaHiroshi KunikataKatarina CisarovaJo NishinoAkira MurakamiToshiaki AbeYukihide MomozawaHiroko TerasakiYuko WadaKoh-Hei SonodaCarlo RivoltaTatsuhiko TsunodaMotokazu TsujikawaYasuhiro IkedaToru NakazawaNature PortfolioarticleBiology (General)QH301-705.5ENCommunications Biology, Vol 4, Iss 1, Pp 1-12 (2021)
institution DOAJ
collection DOAJ
language EN
topic Biology (General)
QH301-705.5
spellingShingle Biology (General)
QH301-705.5
Koji M. Nishiguchi
Fuyuki Miya
Yuka Mori
Kosuke Fujita
Masato Akiyama
Takashi Kamatani
Yoshito Koyanagi
Kota Sato
Toru Takigawa
Shinji Ueno
Misato Tsugita
Hiroshi Kunikata
Katarina Cisarova
Jo Nishino
Akira Murakami
Toshiaki Abe
Yukihide Momozawa
Hiroko Terasaki
Yuko Wada
Koh-Hei Sonoda
Carlo Rivolta
Tatsuhiko Tsunoda
Motokazu Tsujikawa
Yasuhiro Ikeda
Toru Nakazawa
A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
description Koji Nishiguchi et al. identify three genetic variants within the EYS gene that are associated with retinitis pigmentosa using a genome-wide association study. They demonstrate that one of these variants (G843E) causes retinal dysfunction in zebrafish, suggesting a causal role for EYS in retinitis pigmentosa.
format article
author Koji M. Nishiguchi
Fuyuki Miya
Yuka Mori
Kosuke Fujita
Masato Akiyama
Takashi Kamatani
Yoshito Koyanagi
Kota Sato
Toru Takigawa
Shinji Ueno
Misato Tsugita
Hiroshi Kunikata
Katarina Cisarova
Jo Nishino
Akira Murakami
Toshiaki Abe
Yukihide Momozawa
Hiroko Terasaki
Yuko Wada
Koh-Hei Sonoda
Carlo Rivolta
Tatsuhiko Tsunoda
Motokazu Tsujikawa
Yasuhiro Ikeda
Toru Nakazawa
author_facet Koji M. Nishiguchi
Fuyuki Miya
Yuka Mori
Kosuke Fujita
Masato Akiyama
Takashi Kamatani
Yoshito Koyanagi
Kota Sato
Toru Takigawa
Shinji Ueno
Misato Tsugita
Hiroshi Kunikata
Katarina Cisarova
Jo Nishino
Akira Murakami
Toshiaki Abe
Yukihide Momozawa
Hiroko Terasaki
Yuko Wada
Koh-Hei Sonoda
Carlo Rivolta
Tatsuhiko Tsunoda
Motokazu Tsujikawa
Yasuhiro Ikeda
Toru Nakazawa
author_sort Koji M. Nishiguchi
title A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
title_short A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
title_full A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
title_fullStr A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
title_full_unstemmed A hypomorphic variant in EYS detected by genome-wide association study contributes toward retinitis pigmentosa
title_sort hypomorphic variant in eys detected by genome-wide association study contributes toward retinitis pigmentosa
publisher Nature Portfolio
publishDate 2021
url https://doaj.org/article/9d3f7ffc3efc4b0488dd8995a4248a06
work_keys_str_mv AT kojimnishiguchi ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT fuyukimiya ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yukamori ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT kosukefujita ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT masatoakiyama ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT takashikamatani ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yoshitokoyanagi ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT kotasato ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT torutakigawa ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT shinjiueno ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT misatotsugita ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT hiroshikunikata ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT katarinacisarova ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT jonishino ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT akiramurakami ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT toshiakiabe ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yukihidemomozawa ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT hirokoterasaki ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yukowada ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT kohheisonoda ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT carlorivolta ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT tatsuhikotsunoda ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT motokazutsujikawa ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yasuhiroikeda ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT torunakazawa ahypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT kojimnishiguchi hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT fuyukimiya hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yukamori hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT kosukefujita hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT masatoakiyama hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT takashikamatani hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yoshitokoyanagi hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT kotasato hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT torutakigawa hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT shinjiueno hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT misatotsugita hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT hiroshikunikata hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT katarinacisarova hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT jonishino hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT akiramurakami hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT toshiakiabe hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yukihidemomozawa hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT hirokoterasaki hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yukowada hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT kohheisonoda hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT carlorivolta hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT tatsuhikotsunoda hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT motokazutsujikawa hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT yasuhiroikeda hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
AT torunakazawa hypomorphicvariantineysdetectedbygenomewideassociationstudycontributestowardretinitispigmentosa
_version_ 1718393110742958080

Ejemplares similares