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Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development.
Takeda S, Kondo M, Sasaki J, Kurahashi H, Kano H, Arai K, Misaki K, Fukui T, Kobayashi K, Tachikawa M, Imamura M, Nakamura Y, Shimizu T, Murakami T, Sunada Y, Fujikado T, Matsumura K, Terashima T, Toda T. Takeda S, et al. Among authors: kurahashi h. Hum Mol Genet. 2003 Jun 15;12(12):1449-59. doi: 10.1093/hmg/ddg153. Hum Mol Genet. 2003. PMID: 12783852
Fukuyama-type congenital muscular dystrophy (FCMD) and alpha-dystroglycanopathy.
Toda T, Kobayashi K, Takeda S, Sasaki J, Kurahashi H, Kano H, Tachikawa M, Wang F, Nagai Y, Taniguchi K, Taniguchi M, Sunada Y, Terashima T, Endo T, Matsumura K. Toda T, et al. Among authors: kurahashi h. Congenit Anom (Kyoto). 2003 Jun;43(2):97-104. doi: 10.1111/j.1741-4520.2003.tb01033.x. Congenit Anom (Kyoto). 2003. PMID: 12893968 Review.
[Single gene disorder].
Taniguchi M, Kurahashi H. Taniguchi M, et al. Among authors: kurahashi h. Nihon Rinsho. 2005 Dec;63 Suppl 12:57-63. Nihon Rinsho. 2005. PMID: 16416771 Review. Japanese. No abstract available.
Genetic variation affects de novo translocation frequency.
Kato T, Inagaki H, Yamada K, Kogo H, Ohye T, Kowa H, Nagaoka K, Taniguchi M, Emanuel BS, Kurahashi H. Kato T, et al. Among authors: kurahashi h. Science. 2006 Feb 17;311(5763):971. doi: 10.1126/science.1121452. Science. 2006. PMID: 16484486 Free PMC article.
448 results