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A homozygous NOP14 variant is likely to cause recurrent pregnancy loss.
Suzuki T, Behnam M, Ronasian F, Salehi M, Shiina M, Koshimizu E, Fujita A, Sekiguchi F, Miyatake S, Mizuguchi T, Nakashima M, Ogata K, Takeda S, Matsumoto N, Miyake N. Suzuki T, et al. Among authors: fujita a. J Hum Genet. 2018 Apr;63(4):425-430. doi: 10.1038/s10038-018-0410-6. Epub 2018 Feb 13. J Hum Genet. 2018. PMID: 29440706
A family of distal arthrogryposis type 5 due to a novel PIEZO2 mutation.
Okubo M, Fujita A, Saito Y, Komaki H, Ishiyama A, Takeshita E, Kojima E, Koichihara R, Saito T, Nakagawa E, Sugai K, Yamazaki H, Kusaka K, Tanaka H, Miyake N, Matsumoto N, Sasaki M. Okubo M, et al. Among authors: fujita a. Am J Med Genet A. 2015 May;167A(5):1100-6. doi: 10.1002/ajmg.a.36881. Epub 2015 Feb 25. Am J Med Genet A. 2015. PMID: 25712306
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: fujita a. 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.
1,436 results