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Clinical application of long-read nanopore sequencing in a preimplantation genetic testing pre-clinical workup to identify the junction for complex Xq chromosome rearrangement-related disease.
Mariya T, Shichiri Y, Sugimoto T, Kawamura R, Miyai S, Inagaki H, Sugihara E, Ikeda K, Baba T, Ishikawa A, Ammae M, Nakaoka Y, Saito T, Sakurai A, Kurahashi H. Mariya T, et al. Among authors: kawamura r. Prenat Diagn. 2023 Mar;43(3):304-313. doi: 10.1002/pd.6334. Epub 2023 Feb 24. Prenat Diagn. 2023. PMID: 36797813
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm.
Sugimoto T, Inagaki H, Mariya T, Kawamura R, Taniguchi-Ikeda M, Mizuno S, Muramatsu Y, Tsuge I, Ohashi H, Saito N, Hasegawa Y, Ochi N, Yamaguchi M, Murotsuki J, Kurahashi H. Sugimoto T, et al. Among authors: kawamura r. Hum Genet. 2023 Oct;142(10):1451-1460. doi: 10.1007/s00439-023-02591-9. Epub 2023 Aug 24. Hum Genet. 2023. PMID: 37615740 Free PMC article.
Prediction of future insulin-deficiency in glutamic acid decarboxylase autoantibody enzyme-linked immunosorbent assay-positive patients with slowly-progressive type 1 diabetes.
Kawasaki E, Awata T, Ikegami H, Imagawa A, Oikawa Y, Osawa H, Katsuki T, Kanatsuna N, Kawamura R, Kozawa J, Kodani N, Kobayashi T, Shimada A, Shimoda M, Takahashi K, Chujo D, Tsujimoto T, Tsuchiya K, Terakawa A, Terasaki J, Nagasawa K, Noso S, Fukui T, Horie I, Yasuda K, Yasuda H, Yanai H, Hanafusa T, Kajio H; Japanese Type 1 Diabetes Database Study (TIDE-J). Kawasaki E, et al. Among authors: kawamura r. J Diabetes Investig. 2024 Mar 7. doi: 10.1111/jdi.14178. Online ahead of print. J Diabetes Investig. 2024. PMID: 38451108 Free article.
Advanced Interferometry with 3-D Structured Illumination Reveals the Surface Fine Structure of Complex Biospecimens.
Matsuzaki T, Kawamura R, Yamamoto A, Takahashi H, Fujii M, Togo S, Yoneyama Y, Hakuno F, Takahashi SI, Suganuma M, Nakabayashi S, Sharma S, Gimzewski JK, Yoshikawa HY. Matsuzaki T, et al. Among authors: kawamura r. J Phys Chem Lett. 2024 Feb 1;15(4):1097-1104. doi: 10.1021/acs.jpclett.3c02767. Epub 2024 Jan 23. J Phys Chem Lett. 2024. PMID: 38262433
322 results