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Genetic factors affecting survival in Japanese patients with sporadic amyotrophic lateral sclerosis: a genome-wide association study and verification in iPSC-derived motor neurons from patients.
Nakamura R, Tohnai G, Nakatochi M, Atsuta N, Watanabe H, Ito D, Katsuno M, Hirakawa A, Izumi Y, Morita M, Hirayama T, Kano O, Kanai K, Hattori N, Taniguchi A, Suzuki N, Aoki M, Iwata I, Yabe I, Shibuya K, Kuwabara S, Oda M, Hashimoto R, Aiba I, Ishihara T, Onodera O, Yamashita T, Abe K, Mizoguchi K, Shimizu T, Ikeda Y, Yokota T, Hasegawa K, Tanaka F, Nakashima K, Kaji R, Niwa JI, Doyu M, Terao C, Ikegawa S, Fujimori K, Nakamura S, Ozawa F, Morimoto S, Onodera K, Ito T, Okada Y, Okano H, Sobue G; Japanese Consortium for Amyotrophic Lateral Sclerosis research (JaCALS) study group. Nakamura R, et al. Among authors: terao c. J Neurol Neurosurg Psychiatry. 2023 Oct;94(10):816-824. doi: 10.1136/jnnp-2022-330851. Epub 2023 May 4. J Neurol Neurosurg Psychiatry. 2023. PMID: 37142397
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H, Khanshour AM, Ushiki A, Otomo N, Koike Y, Einarsdottir E, Fan Y, Antunes L, Kidane YH, Cornelia R, Sheng R, Zhang Y, Pei J, Grishin NV, Evers BM, Cheung JPY, Herring JA, Terao C, Song YQ, Gurnett CA, Gerdhem P, Ikegawa S, Rios JJ, Ahituv N, Wise CA. Yu H, et al. Among authors: terao c. bioRxiv [Preprint]. 2023 Nov 22:2023.05.26.542293. doi: 10.1101/2023.05.26.542293. bioRxiv. 2023. PMID: 37292598 Free PMC article. Updated. Preprint.
Variant spectrum of von Hippel-Lindau disease and its genomic heterogeneity in Japan.
Tamura K, Kanazashi Y, Kawada C, Sekine Y, Maejima K, Ashida S, Karashima T, Kojima S, Parrish NF, Kosugi S, Terao C, Sasagawa S, Fujita M, Johnson TA, Momozawa Y, Inoue K, Shuin T, Nakagawa H. Tamura K, et al. Among authors: terao c. Hum Mol Genet. 2023 Jun 5;32(12):2046-2054. doi: 10.1093/hmg/ddad039. Hum Mol Genet. 2023. PMID: 36905328 Free PMC article.
Disease-specific variant interpretation highlighted the genetic findings in 2325 Japanese patients with retinitis pigmentosa and allied diseases.
Goto K, Koyanagi Y, Akiyama M, Murakami Y, Fukushima M, Fujiwara K, Iijima H, Yamaguchi M, Endo M, Hashimoto K, Ishizu M, Hirakata T, Mizobuchi K, Takayama M, Ota J, Sajiki AF, Kominami T, Ushida H, Fujita K, Kaneko H, Ueno S, Hayashi T, Terao C, Hotta Y, Murakami A, Kuniyoshi K, Kusaka S, Wada Y, Abe T, Nakazawa T, Ikeda Y, Momozawa Y, Sonoda KH, Nishiguchi KM. Goto K, et al. Among authors: terao c. J Med Genet. 2024 Mar 18:jmg-2023-109750. doi: 10.1136/jmg-2023-109750. Online ahead of print. J Med Genet. 2024. PMID: 38499336
Detection of trait-associated structural variations using short-read sequencing.
Kosugi S, Kamatani Y, Harada K, Tomizuka K, Momozawa Y, Morisaki T; BioBank Japan Project; Terao C. Kosugi S, et al. Among authors: terao c. Cell Genom. 2023 May 18;3(6):100328. doi: 10.1016/j.xgen.2023.100328. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388916 Free PMC article.
237 results