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Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.
Imagawa E, Higashimoto K, Sakai Y, Numakura C, Okamoto N, Matsunaga S, Ryo A, Sato Y, Sanefuji M, Ihara K, Takada Y, Nishimura G, Saitsu H, Mizuguchi T, Miyatake S, Nakashima M, Miyake N, Soejima H, Matsumoto N. Imagawa E, et al. Among authors: matsunaga s. Hum Mutat. 2017 Jun;38(6):637-648. doi: 10.1002/humu.23200. Epub 2017 Mar 15. Hum Mutat. 2017. PMID: 28229514
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
Miyake N, Tsukaguchi H, Koshimizu E, Shono A, Matsunaga S, Shiina M, Mimura Y, Imamura S, Hirose T, Okudela K, Nozu K, Akioka Y, Hattori M, Yoshikawa N, Kitamura A, Cheong HI, Kagami S, Yamashita M, Fujita A, Miyatake S, Tsurusaki Y, Nakashima M, Saitsu H, Ohashi K, Imamoto N, Ryo A, Ogata K, Iijima K, Matsumoto N. Miyake N, et al. Among authors: matsunaga s. Am J Hum Genet. 2015 Oct 1;97(4):555-66. doi: 10.1016/j.ajhg.2015.08.013. Epub 2015 Sep 24. Am J Hum Genet. 2015. PMID: 26411495 Free PMC article.
H11/HSPB8 Restricts HIV-2 Vpx to Restore the Anti-Viral Activity of SAMHD1.
Kudoh A, Miyakawa K, Matsunaga S, Matsushima Y, Kosugi I, Kimura H, Hayakawa S, Sawasaki T, Ryo A. Kudoh A, et al. Among authors: matsunaga s. Front Microbiol. 2016 Jun 13;7:883. doi: 10.3389/fmicb.2016.00883. eCollection 2016. Front Microbiol. 2016. PMID: 27379031 Free PMC article.
1,198 results