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204 results

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Page 1
NOTCH2 Hajdu-Cheney Mutations Escape SCFFBW7-Dependent Proteolysis to Promote Osteoporosis.
Fukushima H, Shimizu K, Watahiki A, Hoshikawa S, Kosho T, Oba D, Sakano S, Arakaki M, Yamada A, Nagashima K, Okabe K, Fukumoto S, Jimi E, Bigas A, Nakayama KI, Nakayama K, Aoki Y, Wei W, Inuzuka H. Fukushima H, et al. Among authors: kosho t. Mol Cell. 2017 Nov 16;68(4):645-658.e5. doi: 10.1016/j.molcel.2017.10.018. Mol Cell. 2017. PMID: 29149593 Free PMC article.
[Ehlers-Danlos syndrome with a frequent intestinal perforation].
Sahata T, Tsuda S, Abo M, Sanekata K, Yamagishi T, Aoki Y, Kosho T, Hatamochi A. Sahata T, et al. Among authors: kosho t. Nihon Naika Gakkai Zasshi. 2009 Apr 10;98(4):852-4. doi: 10.2169/naika.98.852. Nihon Naika Gakkai Zasshi. 2009. PMID: 19432132 Japanese. No abstract available.
Clinical consequences in truncating mutations in exon 34 of NOTCH2: report of six patients with Hajdu-Cheney syndrome and a patient with serpentine fibula polycystic kidney syndrome.
Narumi Y, Min BJ, Shimizu K, Kazukawa I, Sameshima K, Nakamura K, Kosho T, Rhee Y, Chung YS, Kim OH, Fukushima Y, Park WY, Nishimura G. Narumi Y, et al. Among authors: kosho t. Am J Med Genet A. 2013 Mar;161A(3):518-26. doi: 10.1002/ajmg.a.35772. Epub 2013 Feb 7. Am J Med Genet A. 2013. PMID: 23401378
Clinical and molecular features of 66 patients with musculocontractural Ehlers-Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14).
Minatogawa M, Unzaki A, Morisaki H, Syx D, Sonoda T, Janecke AR, Slavotinek A, Voermans NC, Lacassie Y, Mendoza-Londono R, Wierenga KJ, Jayakar P, Gahl WA, Tifft CJ, Figuera LE, Hilhorst-Hofstee Y, Maugeri A, Ishikawa K, Kobayashi T, Aoki Y, Ohura T, Kawame H, Kono M, Mochida K, Tokorodani C, Kikkawa K, Morisaki T, Kobayashi T, Nakane T, Kubo A, Ranells JD, Migita O, Sobey G, Kaur A, Ishikawa M, Yamaguchi T, Matsumoto N, Malfait F, Miyake N, Kosho T. Minatogawa M, et al. Among authors: kosho t. J Med Genet. 2022 Sep;59(9):865-877. doi: 10.1136/jmedgenet-2020-107623. Epub 2021 Nov 23. J Med Genet. 2022. PMID: 34815299 Free PMC article.
Early-Onset Inflammatory Bowel Disease Caused by Mutations in the X-Linked Gene IL2RG.
Ogawa A, Watanabe T, Natsume T, Okura E, Saito S, Kato S, Nakayama Y, Furukawa S, Yamaguchi T, Kosho T, Uehara T, Kobayashi N, Agematsu K, Nakazawa Y, Shigemura T. Ogawa A, et al. Among authors: kosho t. J Investig Allergol Clin Immunol. 2021 Feb 17;31(1):69-71. doi: 10.18176/jiaci.0523. Epub 2020 Jun 3. J Investig Allergol Clin Immunol. 2021. PMID: 32490820 Free article. No abstract available.
204 results