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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 is required for FGF-2 signaling in the neural stem cell niche.
Kerever A, Mercier F, Nonaka R, de Vega S, Oda Y, Zalc B, Okada Y, Hattori N, Yamada Y, Arikawa-Hirasawa E. Kerever A, et al. Stem Cell Res. 2014 Mar;12(2):492-505. doi: 10.1016/j.scr.2013.12.009. Epub 2013 Dec 28. Stem Cell Res. 2014. PMID: 24434631 Free PMC article.
75 results