@article{oai:shiga-med.repo.nii.ac.jp:00003479,
 author = {築山, 智之 and 小林, 憲市 and 中家, 雅隆 and 岩谷, 千鶴 and 清田, 弥寿成 and 土屋, 英明 and 松下, 淳 and 北嶋, 郁 and 河本, 育士 and 中川, 孝博 and 久米, 真司 and 前川, 聡 and 中村, 紳一郎 and 河内, 明宏 and 依馬, 正次 and TSUKIYAMA, Tomoyuki and KOBAYASHI, Kenichi and NAKAYA, Masataka and IWATANI, Chizuru and SEITA, Yasunari and TSUCHIYA, Hideaki and MATSUSHITA, Jun and KITAJIMA, Kahoru and KAWAMOTO, Ikuo and NAKAGAWA, Takahiro and FUKUDA, Koji and IWAKIRI, Teppei and IZUMI, Hiroyuki and ITAGAKI, Iori and KUME, Shinji and MAEGAWA, Hiroshi and NISHINAKAMURA, Ryuichi and NISHIO, Saori and NAKAMURA, Shinichiro and KAWAUCHI, Akihiro and EMA, Masatsugu},
 issue = {1},
 journal = {Nature communications},
 month = {Dec},
 note = {Autosomal dominant polycystic kidney disease (ADPKD) caused by PKD1 mutations is one of the most common hereditary disorders. However, the key pathological processes underlying cyst development and exacerbation in pre-symptomatic stages remain unknown, because rodent models do not recapitulate critical disease phenotypes, including disease onset in heterozygotes. Here, using CRISPR/Cas9, we generate ADPKD models with PKD1 mutations in cynomolgus monkeys. As in humans and mice, near-complete PKD1 depletion induces severe cyst formation mainly in collecting ducts. Importantly, unlike in mice, PKD1 heterozygote monkeys exhibit cyst formation perinatally in distal tubules, possibly reflecting the initial pathology in humans. Many monkeys in these models survive after cyst formation, and cysts progress with age. Furthermore, we succeed in generating selective heterozygous mutations using allele-specific targeting. We propose that our models elucidate the onset and progression of ADPKD, which will serve as a critical basis for establishing new therapeutic strategies, including drug treatments., Journal Article},
 title = {Monkeys mutant for PKD1 recapitulate human autosomal dominant polycystic kidney disease.},
 volume = {10},
 year = {2019}
}