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Mutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repair.
Nakazawa Y, Sasaki K, Mitsutake N, Matsuse M, Shimada M, Nardo T, Takahashi Y, Ohyama K, Ito K, Mishima H, Nomura M, Kinoshita A, Ono S, Takenaka K, Masuyama R, Kudo T, Slor H, Utani A, Tateishi S, Yamashita S, Stefanini M, Lehmann AR, Yoshiura K, Ogi T. Nakazawa Y, et al. Among authors: ono s. Nat Genet. 2012 May;44(5):586-92. doi: 10.1038/ng.2229. Nat Genet. 2012. PMID: 22466610 Free article.
Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions.
Ono S, Yoshiura K, Kinoshita A, Kikuchi T, Nakane Y, Kato N, Sadamatsu M, Konishi T, Nagamitsu S, Matsuura M, Yasuda A, Komine M, Kanai K, Inoue T, Osamura T, Saito K, Hirose S, Koide H, Tomita H, Ozawa H, Niikawa N, Kurotaki N. Ono S, et al. J Hum Genet. 2012 May;57(5):338-41. doi: 10.1038/jhg.2012.23. Epub 2012 Mar 8. J Hum Genet. 2012. PMID: 22399141
A unique missense variant in the E1A-binding protein P400 gene is implicated in schizophrenia by whole-exome sequencing and mutant mouse models.
Morimoto Y, Ono S, Yoshida S, Mishima H, Kinoshita A, Tanaka T, Komohara Y, Kurotaki N, Kishino T, Okazaki Y, Ozawa H, Yoshiura KI, Imamura A. Morimoto Y, et al. Among authors: ono s. Transl Psychiatry. 2021 Feb 18;11(1):132. doi: 10.1038/s41398-021-01258-1. Transl Psychiatry. 2021. PMID: 33602898 Free PMC article.
Nonsense mutation in CFAP43 causes normal-pressure hydrocephalus with ciliary abnormalities.
Morimoto Y, Yoshida S, Kinoshita A, Satoh C, Mishima H, Yamaguchi N, Matsuda K, Sakaguchi M, Tanaka T, Komohara Y, Imamura A, Ozawa H, Nakashima M, Kurotaki N, Kishino T, Yoshiura KI, Ono S. Morimoto Y, et al. Among authors: ono s. Neurology. 2019 May 14;92(20):e2364-e2374. doi: 10.1212/WNL.0000000000007505. Epub 2019 Apr 19. Neurology. 2019. PMID: 31004071 Free PMC article.
Whole-exome sequencing and gene-based rare variant association tests suggest that PLA2G4E might be a risk gene for panic disorder.
Morimoto Y, Shimada-Sugimoto M, Otowa T, Yoshida S, Kinoshita A, Mishima H, Yamaguchi N, Mori T, Imamura A, Ozawa H, Kurotaki N, Ziegler C, Domschke K, Deckert J, Umekage T, Tochigi M, Kaiya H, Okazaki Y, Tokunaga K, Sasaki T, Yoshiura KI, Ono S. Morimoto Y, et al. Among authors: ono s. Transl Psychiatry. 2018 Feb 2;8(1):41. doi: 10.1038/s41398-017-0088-0. Transl Psychiatry. 2018. PMID: 29391400 Free PMC article.
Surfactant protein C G100S mutation causes familial pulmonary fibrosis in Japanese kindred.
Ono S, Tanaka T, Ishida M, Kinoshita A, Fukuoka J, Takaki M, Sakamoto N, Ishimatsu Y, Kohno S, Hayashi T, Senba M, Yasunami M, Kubo Y, Yoshida LM, Kubo H, Ariyoshi K, Yoshiura K, Morimoto K. Ono S, et al. Eur Respir J. 2011 Oct;38(4):861-9. doi: 10.1183/09031936.00143610. Epub 2011 Aug 4. Eur Respir J. 2011. PMID: 21828032 Free article.
3,327 results