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Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M, Hira A, Yoshida K, Muramatsu H, Okuno Y, Shiraishi Y, Anmae M, Yasuda J, Tadaka S, Kinoshita K, Osumi T, Noguchi Y, Adachi S, Kobayashi R, Kawabata H, Imai K, Morio T, Tamura K, Takaori-Kondo A, Yamamoto M, Miyano S, Kojima S, Ito E, Ogawa S, Matsuo K, Yabe H, Yabe M, Takata M. Mori M, et al. Haematologica. 2019 Oct;104(10):1962-1973. doi: 10.3324/haematol.2018.207241. Epub 2019 Feb 21. Haematologica. 2019. PMID: 30792206 Free PMC article. Clinical Trial.
Pathogenic mutations identified by a multimodality approach in 117 Japanese Fanconi anemia patients.
Mori M, Hira A, Yoshida K, Muramatsu H, Okuno Y, Shiraishi Y, Anmae M, Yasuda J, Tadaka S, Kinoshita K, Osumi T, Noguchi Y, Adachi S, Kobayashi R, Kawabata H, Imai K, Morio T, Tamura K, Takaori-Kondo A, Yamamoto M, Miyano S, Kojima S, Ito E, Ogawa S, Matsuo K, Yabe H, Yabe M, Takata M. Mori M, et al. Haematologica. 2020 Apr;105(4):1166-1167. doi: 10.3324/haematol.2019.245720. Haematologica. 2020. PMID: 32238468 Free PMC article. No abstract available.
A founder variant in the South Asian population leads to a high prevalence of FANCL Fanconi anemia cases in India.
Donovan FX, Solanki A, Mori M, Chavan N, George M, C SK, Okuno Y, Muramastsu H, Yoshida K, Shimamoto A, Takaori-Kondo A, Yabe H, Ogawa S, Kojima S, Yabe M, Ramanagoudr-Bhojappa R, Smogorzewska A, Mohan S, Rajendran A, Auerbach AD, Takata M, Chandrasekharappa SC, Vundinti BR. Donovan FX, et al. Among authors: mori m. Hum Mutat. 2020 Jan;41(1):122-128. doi: 10.1002/humu.23914. Epub 2019 Sep 26. Hum Mutat. 2020. PMID: 31513304 Free PMC article.
Two Aldehyde Clearance Systems Are Essential to Prevent Lethal Formaldehyde Accumulation in Mice and Humans.
Dingler FA, Wang M, Mu A, Millington CL, Oberbeck N, Watcham S, Pontel LB, Kamimae-Lanning AN, Langevin F, Nadler C, Cordell RL, Monks PS, Yu R, Wilson NK, Hira A, Yoshida K, Mori M, Okamoto Y, Okuno Y, Muramatsu H, Shiraishi Y, Kobayashi M, Moriguchi T, Osumi T, Kato M, Miyano S, Ito E, Kojima S, Yabe H, Yabe M, Matsuo K, Ogawa S, Göttgens B, Hodskinson MRG, Takata M, Patel KJ. Dingler FA, et al. Among authors: mori m. Mol Cell. 2020 Dec 17;80(6):996-1012.e9. doi: 10.1016/j.molcel.2020.10.012. Epub 2020 Nov 3. Mol Cell. 2020. PMID: 33147438 Free PMC article.
9,979 results