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Strategic validation of variants of uncertain significance in ECHS1 genetic testing.
Kishita Y, Sugiura A, Onuki T, Ebihara T, Matsuhashi T, Shimura M, Fushimi T, Ichino N, Nagatakidani Y, Nishihata H, Nitta KR, Yatsuka Y, Imai-Okazaki A, Wu Y, Osaka H, Ohtake A, Murayama K, Okazaki Y. Kishita Y, et al. Among authors: nitta kr. J Med Genet. 2023 Oct;60(10):1006-1015. doi: 10.1136/jmg-2022-109027. Epub 2023 Apr 13. J Med Genet. 2023. PMID: 37055166
Novel ITPA variants identified by whole genome sequencing and RNA sequencing.
Omichi N, Kishita Y, Nakama M, Sasai H, Terazawa A, Kobayashi E, Fushimi T, Sugiyama Y, Ichimoto K, Nitta KR, Yatsuka Y, Ohtake A, Murayama K, Okazaki Y. Omichi N, et al. Among authors: nitta kr. J Hum Genet. 2023 Sep;68(9):649-652. doi: 10.1038/s10038-023-01156-y. Epub 2023 May 29. J Hum Genet. 2023. PMID: 37246162
Involvement of GLCCI1 in mouse spermatogenesis.
Takada M, Fukuhara D, Takiura T, Nishibori Y, Kotani M, Kiuchi Z, Kudo A, Beltcheva O, Ito-Nitta N, Nitta KR, Kimura T, Suehiro JI, Katada T, Takematsu H, Yan K. Takada M, et al. Among authors: nitta kr. FASEB J. 2023 Jan;37(1):e22680. doi: 10.1096/fj.202101667RR. FASEB J. 2023. PMID: 36468710
Expression of Sox1 during Xenopus early embryogenesis.
Nitta KR, Takahashi S, Haramoto Y, Fukuda M, Onuma Y, Asashima M. Nitta KR, et al. Biochem Biophys Res Commun. 2006 Dec 8;351(1):287-93. doi: 10.1016/j.bbrc.2006.10.040. Epub 2006 Oct 16. Biochem Biophys Res Commun. 2006. PMID: 17056008
Severe spinal cord hypoplasia due to a novel ATAD3A compound heterozygous deletion.
Ebihara T, Nagatomo T, Sugiyama Y, Tsuruoka T, Osone Y, Shimura M, Tajika M, Ichimoto K, Naruke Y, Akiyama N, Lim SC, Yatsuka Y, Nitta KR, Kishita Y, Fushimi T, Okazaki A, Ohtake A, Okazaki Y, Murayama K. Ebihara T, et al. Among authors: nitta kr. Mol Genet Metab Rep. 2022 Aug 24;33:100912. doi: 10.1016/j.ymgmr.2022.100912. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36061954 Free PMC article.
30 results