Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes
De novo mutations significantly contribute to autism spectrum disorders (ASD). Here, the authors demonstrate that ASD-associated de novo mutations in the POGZ gene, one of a high-confidence ASD gene, lead to ASD-related impaired neuronal development and disrupted mature cortical network function.
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Nature Portfolio
2020
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oai:doaj.org-article:b3970c6881ab49c4a520b80ed0ce7f6e2021-12-02T14:40:51ZPathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes10.1038/s41467-020-14697-z2041-1723https://doaj.org/article/b3970c6881ab49c4a520b80ed0ce7f6e2020-02-01T00:00:00Zhttps://doi.org/10.1038/s41467-020-14697-zhttps://doaj.org/toc/2041-1723De novo mutations significantly contribute to autism spectrum disorders (ASD). Here, the authors demonstrate that ASD-associated de novo mutations in the POGZ gene, one of a high-confidence ASD gene, lead to ASD-related impaired neuronal development and disrupted mature cortical network function.Kensuke MatsumuraKaoru SeirikiShota OkadaMasashi NagaseShinya AyabeIkuko YamadaTamio FuruseHirotoshi ShibuyaYuka YasudaHidenaga YamamoriMichiko FujimotoKazuki NagayasuKana YamamotoKohei KitagawaHiroki MiuraNanaka Gotoda-NishimuraHisato IgarashiMisuzu HayashidaMasayuki BabaMomoka KondoShigeru HasebeKosei UeshimaAtsushi KasaiYukio AgoAtsuko Hayata-TakanoNorihito ShintaniTokuichi IguchiMakoto SatoShun YamaguchiMasaru TamuraShigeharu WakanaAtsushi YoshikiAyako M. WatabeHideyuki OkanoKazuhiro TakumaRyota HashimotoHitoshi HashimotoTakanobu NakazawaNature PortfolioarticleScienceQENNature Communications, Vol 11, Iss 1, Pp 1-16 (2020) |
| institution |
DOAJ |
| collection |
DOAJ |
| language |
EN |
| topic |
Science Q |
| spellingShingle |
Science Q Kensuke Matsumura Kaoru Seiriki Shota Okada Masashi Nagase Shinya Ayabe Ikuko Yamada Tamio Furuse Hirotoshi Shibuya Yuka Yasuda Hidenaga Yamamori Michiko Fujimoto Kazuki Nagayasu Kana Yamamoto Kohei Kitagawa Hiroki Miura Nanaka Gotoda-Nishimura Hisato Igarashi Misuzu Hayashida Masayuki Baba Momoka Kondo Shigeru Hasebe Kosei Ueshima Atsushi Kasai Yukio Ago Atsuko Hayata-Takano Norihito Shintani Tokuichi Iguchi Makoto Sato Shun Yamaguchi Masaru Tamura Shigeharu Wakana Atsushi Yoshiki Ayako M. Watabe Hideyuki Okano Kazuhiro Takuma Ryota Hashimoto Hitoshi Hashimoto Takanobu Nakazawa Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes |
| description |
De novo mutations significantly contribute to autism spectrum disorders (ASD). Here, the authors demonstrate that ASD-associated de novo mutations in the POGZ gene, one of a high-confidence ASD gene, lead to ASD-related impaired neuronal development and disrupted mature cortical network function. |
| format |
article |
| author |
Kensuke Matsumura Kaoru Seiriki Shota Okada Masashi Nagase Shinya Ayabe Ikuko Yamada Tamio Furuse Hirotoshi Shibuya Yuka Yasuda Hidenaga Yamamori Michiko Fujimoto Kazuki Nagayasu Kana Yamamoto Kohei Kitagawa Hiroki Miura Nanaka Gotoda-Nishimura Hisato Igarashi Misuzu Hayashida Masayuki Baba Momoka Kondo Shigeru Hasebe Kosei Ueshima Atsushi Kasai Yukio Ago Atsuko Hayata-Takano Norihito Shintani Tokuichi Iguchi Makoto Sato Shun Yamaguchi Masaru Tamura Shigeharu Wakana Atsushi Yoshiki Ayako M. Watabe Hideyuki Okano Kazuhiro Takuma Ryota Hashimoto Hitoshi Hashimoto Takanobu Nakazawa |
| author_facet |
Kensuke Matsumura Kaoru Seiriki Shota Okada Masashi Nagase Shinya Ayabe Ikuko Yamada Tamio Furuse Hirotoshi Shibuya Yuka Yasuda Hidenaga Yamamori Michiko Fujimoto Kazuki Nagayasu Kana Yamamoto Kohei Kitagawa Hiroki Miura Nanaka Gotoda-Nishimura Hisato Igarashi Misuzu Hayashida Masayuki Baba Momoka Kondo Shigeru Hasebe Kosei Ueshima Atsushi Kasai Yukio Ago Atsuko Hayata-Takano Norihito Shintani Tokuichi Iguchi Makoto Sato Shun Yamaguchi Masaru Tamura Shigeharu Wakana Atsushi Yoshiki Ayako M. Watabe Hideyuki Okano Kazuhiro Takuma Ryota Hashimoto Hitoshi Hashimoto Takanobu Nakazawa |
| author_sort |
Kensuke Matsumura |
| title |
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes |
| title_short |
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes |
| title_full |
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes |
| title_fullStr |
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes |
| title_full_unstemmed |
Pathogenic POGZ mutation causes impaired cortical development and reversible autism-like phenotypes |
| title_sort |
pathogenic pogz mutation causes impaired cortical development and reversible autism-like phenotypes |
| publisher |
Nature Portfolio |
| publishDate |
2020 |
| url |
https://doaj.org/article/b3970c6881ab49c4a520b80ed0ce7f6e |
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