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Identification of novel OCRL isoforms associated with phenotypic differences between Dent disease-2 and Lowe syndrome.
Sakakibara N, Ijuin T, Horinouchi T, Yamamura T, Nagano C, Okada E, Ishiko S, Aoto Y, Rossanti R, Ninchoji T, Awano H, Nagase H, Minamikawa S, Tanaka R, Matsuyama T, Nagatani K, Kamei K, Jinnouchi K, Ohtsuka Y, Oka M, Araki Y, Tanaka T, Harada MS, Igarashi T, Kitahara H, Morisada N, Nakamura SI, Okada T, Iijima K, Nozu K. Sakakibara N, et al. Among authors: awano h. Nephrol Dial Transplant. 2022 Jan 25;37(2):262-270. doi: 10.1093/ndt/gfab274. Nephrol Dial Transplant. 2022. PMID: 34586410
Next-generation sequencing discloses a nonsense mutation in the dystrophin gene from long preserved dried umbilical cord and low-level somatic mosaicism in the proband mother.
Taniguchi-Ikeda M, Takeshima Y, Lee T, Nishiyama M, Awano H, Yagi M, Unzaki A, Nozu K, Nishio H, Matsuo M, Kurahashi H, Toda T, Morioka I, Iijima K. Taniguchi-Ikeda M, et al. Among authors: awano h. J Hum Genet. 2016 Apr;61(4):351-5. doi: 10.1038/jhg.2015.157. Epub 2016 Jan 7. J Hum Genet. 2016. PMID: 26740235
A pediatric patient with interstitial pneumonia due to enterovirus D68.
Matsumoto M, Awano H, Ogi M, Tomioka K, Unzaki A, Nishiyama M, Toyoshima D, Taniguchi-Ikeda M, Ishida A, Nagase H, Morioka I, Iijima K. Matsumoto M, et al. Among authors: awano h. J Infect Chemother. 2016 Oct;22(10):712-5. doi: 10.1016/j.jiac.2016.03.009. Epub 2016 Apr 22. J Infect Chemother. 2016. PMID: 27118532
Alternative splicing of a cryptic exon embedded in intron 6 of SMN1 and SMN2.
Yoshimoto S, Harahap NI, Hamamura Y, Ar Rochmah M, Shima A, Morisada N, Shinohara M, Saito T, Saito K, Lai PS, Matsuo M, Awano H, Morioka I, Iijima K, Nishio H. Yoshimoto S, et al. Among authors: awano h. Hum Genome Var. 2016 Dec 1;3:16040. doi: 10.1038/hgv.2016.40. eCollection 2016. Hum Genome Var. 2016. PMID: 27917293 Free PMC article.
Gestational age-dependency of height and body mass index trajectories during the first 3 years in Japanese small-for-gestational age children.
Maeyama K, Morioka I, Iwatani S, Fukushima S, Kurokawa D, Yamana K, Nishida K, Ohyama S, Fujioka K, Awano H, Taniguchi-Ikeda M, Nozu K, Nagase H, Nishimura N, Shirai C, Iijima K. Maeyama K, et al. Among authors: awano h. Sci Rep. 2016 Dec 9;6:38659. doi: 10.1038/srep38659. Sci Rep. 2016. PMID: 27934914 Free PMC article.
160 results