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A severe muscular dystrophy patient with an internally deleted very short (110 kD) dystrophin: presence of the binding site for dystrophin-associated glycoprotein (DAG) may not be enough for physiological function of dystrophin.
Arikawa-Hirasawa E, Koga R, Tsukahara T, Nonaka I, Mitsudome A, Goto K, Beggs AH, Arahata K. Arikawa-Hirasawa E, et al. Neuromuscul Disord. 1995 Sep;5(5):429-38. doi: 10.1016/0960-8966(94)00087-p. Neuromuscul Disord. 1995. PMID: 7496177
Structural and functional mutations of the perlecan gene cause Schwartz-Jampel syndrome, with myotonic myopathy and chondrodysplasia.
Arikawa-Hirasawa E, Le AH, Nishino I, Nonaka I, Ho NC, Francomano CA, Govindraj P, Hassell JR, Devaney JM, Spranger J, Stevenson RE, Iannaccone S, Dalakas MC, Yamada Y. Arikawa-Hirasawa E, et al. Am J Hum Genet. 2002 May;70(5):1368-75. doi: 10.1086/340390. Epub 2002 Apr 8. Am J Hum Genet. 2002. PMID: 11941538 Free PMC article.
Perlecan-deficient mutation impairs corneal epithelial structure.
Inomata T, Ebihara N, Funaki T, Matsuda A, Watanabe Y, Ning L, Xu Z, Murakami A, Arikawa-Hirasawa E. Inomata T, et al. Invest Ophthalmol Vis Sci. 2012 Mar 9;53(3):1277-84. doi: 10.1167/iovs.11-8742. Invest Ophthalmol Vis Sci. 2012. PMID: 22266517
Laminin α1 is essential for mouse cerebellar development.
Ichikawa-Tomikawa N, Ogawa J, Douet V, Xu Z, Kamikubo Y, Sakurai T, Kohsaka S, Chiba H, Hattori N, Yamada Y, Arikawa-Hirasawa E. Ichikawa-Tomikawa N, et al. Matrix Biol. 2012 Jan;31(1):17-28. doi: 10.1016/j.matbio.2011.09.002. Epub 2011 Sep 29. Matrix Biol. 2012. PMID: 21983115 Free PMC article.
74 results