Truncation mutations in MYRF underlie primary angle closure glaucoma
Author:
Funder
National Natural Science Foundation of China
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-022-02487-0.pdf
Reference56 articles.
1. Bujalka H, Koenning M, Jackson S, Perreau VM, Pope B, Hay CM, Mitew S, Hill AF, Lu QR, Wegner M et al (2013) MYRF is a membrane-associated transcription factor that autoproteolytically cleaves to directly activate myelin genes. PLoS Biol 11:e1001625. https://doi.org/10.1371/journal.pbio.1001625
2. Cai J, Drewry MD, Perkumas K, Dismuke WM, Hauser MA, Stamer WD, Liu Y (2020) Differential DNA methylation patterns in human Schlemm’s canal endothelial cells with glaucoma. Mol vis 26:483–493
3. Chitayat D, Shannon P, Uster T, Nezarati MM, Schnur RE, Bhoj EJ (2018) An additional individual with a de novo variant in myelin regulatory factor (MYRF) with cardiac and urogenital anomalies: further proof of causality: comments on the article by Pinz et al. (). Am J Med Genet A 176:2041–2043. https://doi.org/10.1002/ajmg.a.40360
4. Cho A, Haruyama N, Kulkarni AB (2009) Generation of transgenic mice. Curr Protoc Cell Biol. https://doi.org/10.1002/0471143030.cb1911s42
5. Civan MM (2003) The fall and rise of active chloride transport: implications for regulation of intraocular pressure. J Exp Zool A Comp Exp Biol 300:5–13. https://doi.org/10.1002/jez.a.10303
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