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Not too long, not too short: Goldilocks principle of eye size


Autoři: Rachel W. Kuchtey aff001
Působiště autorů: Department of Ophthalmology and Visual Sciences, Vanderbilt University Medical Center, Nashville, Tennessee, United States of America aff001;  Department of Molecular Physiology and Biophysics, Vanderbilt University, Nashville, Tennessee, United States of America aff002
Vyšlo v časopise: Not too long, not too short: Goldilocks principle of eye size. PLoS Genet 16(7): e32767. doi:10.1371/journal.pgen.1008914
Kategorie: Perspective
doi: https://doi.org/10.1371/journal.pgen.1008914


Zdroje

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4. The CREAM Consortium, 23andMe Research Team, UK Biobank Eye and Vision Consortium, Tedja MS, Wojciechowski R, Hysi PG, et al. Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. Nat Genet. 2018 Jun;50(6):834–48. doi: 10.1038/s41588-018-0127-7 29808027

5. Awadalla MS, Burdon KP, Souzeau E, Landers J, Hewitt AW, Sharma S, et al. Mutation in TMEM98 in a large white kindred with autosomal dominant nanophthalmos linked to 17p12-q12. JAMA Ophthalmol. 2014 Aug;132(8):970–7. doi: 10.1001/jamaophthalmol.2014.946 24852644

6. Khorram D, Choi M, Roos BR, Stone EM, Kopel T, Allen R, et al. Novel TMEM98 mutations in pedigrees with autosomal dominant nanophthalmos. Mol Vis. 2015;21:1017–23. 26392740

7. Sun W, Zhang Q. Does the association between TMEM98 and nanophthalmos require further confirmation? JAMA Ophthalmol. 2015 Mar;133(3):358–9. doi: 10.1001/jamaophthalmol.2014.4915 25429522

8. Othman MI, Sullivan SA, Skuta GL, Cockrell DA, Stringham HM, Downs CA, et al. Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11. Am J Hum Genet. 1998 Nov;63(5):1411–8. doi: 10.1086/302113 9792868

9. Garnai SJ, Brinkmeier ML, Emery B, Aleman TS, Pyle LC, Veleva-Rotse B, et al. Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice. MG Anderson, editor. PLOS Genet. 2019 May 2;15(5):e1008130. doi: 10.1371/journal.pgen.1008130 31048900

10. Rossetti LZ, Glinton K, Yuan B, Liu P, Pillai N, Mizerik E, et al. Review of the phenotypic spectrum associated with haploinsufficiency of MYRF. Am J Med Genet A. 2019;179(7):1376–82. doi: 10.1002/ajmg.a.61182 31069960

11. Sundin OH. The mouse’s eye and Mfrp: not quite human. Ophthalmic Genet. 2005 Dec;26(4):153–5. doi: 10.1080/13816810500374359 16352474

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13. Yardley J, Leroy BP, Hart-Holden N, Lafaut BA, Loeys B, Messiaen LM, et al. Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). Invest Ophthalmol Vis Sci. 2004 Oct;45(10):3683–9. doi: 10.1167/iovs.04-0550 15452077

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PLOS Genetics


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