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Page 1
Exon skipping causes atypical phenotypes associated with a loss-of-function mutation in FLNA by restoring its protein function.
Oda H, Sato T, Kunishima S, Nakagawa K, Izawa K, Hiejima E, Kawai T, Yasumi T, Doi H, Katamura K, Numabe H, Okamoto S, Nakase H, Hijikata A, Ohara O, Suzuki H, Morisaki H, Morisaki T, Nunoi H, Hattori S, Nishikomori R, Heike T. Oda H, et al. Among authors: kawai t. Eur J Hum Genet. 2016 Mar;24(3):408-14. doi: 10.1038/ejhg.2015.119. Epub 2015 Jun 10. Eur J Hum Genet. 2016. PMID: 26059841 Free PMC article.
Rapid diagnosis of FHL3 by flow cytometric detection of intraplatelet Munc13-4 protein.
Murata Y, Yasumi T, Shirakawa R, Izawa K, Sakai H, Abe J, Tanaka N, Kawai T, Oshima K, Saito M, Nishikomori R, Ohara O, Ishii E, Nakahata T, Horiuchi H, Heike T. Murata Y, et al. Among authors: kawai t. Blood. 2011 Aug 4;118(5):1225-30. doi: 10.1182/blood-2011-01-329540. Epub 2011 Jun 8. Blood. 2011. PMID: 21653941 Free article.
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: results of an International Multicenter Collaborative Study.
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Aróstegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T. Tanaka N, et al. Among authors: kawai t. Arthritis Rheum. 2011 Nov;63(11):3625-32. doi: 10.1002/art.30512. Arthritis Rheum. 2011. PMID: 21702021 Free PMC article.
Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders.
Kadowaki T, Ohnishi H, Kawamoto N, Hori T, Nishimura K, Kobayashi C, Shigemura T, Ogata S, Inoue Y, Kawai T, Hiejima E, Takagi M, Imai K, Nishikomori R, Ito S, Heike T, Ohara O, Morio T, Fukao T, Kanegane H. Kadowaki T, et al. Among authors: kawai t. J Allergy Clin Immunol. 2018 Apr;141(4):1485-1488.e11. doi: 10.1016/j.jaci.2017.10.039. Epub 2017 Dec 11. J Allergy Clin Immunol. 2018. PMID: 29241730 No abstract available.
3,856 results