| 1 | EYS, NEK2, RP25, RP67
|
| Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene.
|
| Nishiguchi KM, Tearle RG, Liu YP, Oh EC, Miyake N, Benaglio P, Harper S, Koskiniemi-Kuendig H, Venturini G, Sharon D, Koenekoop RK, Nakamura M, Kondo M, Ueno S, Yasuma TR, Beckmann JS, Ikegawa S, Matsumoto N, Terasaki H, Berson EL, Katsanis N, Rivolta C.
|
| Proc Natl Acad Sci U S A 110(40):16139-44. doi: 10.1073/pnas.1308243110. Epub 2013 Sep 16.
2013
|
| 2 | EYS
|
| Copy-number variations in EYS: a significant event in the appearance of arRP.
|
| Pieras JI, Barragán I, Borrego S, Audo I, González-Del Pozo M, Bernal S, Baiget M, Zeitz C, Bhattacharya SS, Antiñolo G.
|
| Invest Ophthalmol Vis Sci. 52(8):5625-31. 2011
|
| 3 | EYS
|
| Identification of novel mutations in the ortholog of Drosophila eyes shut gene (EYS) causing autosomal recessive retinitis pigmentosa.
|
| Abd El-Aziz MM, O'Driscoll CA, Kaye RS, Barragan I, El-Ashry MF, Borrego S, Antiñolo G, Pang CP, Webster AR, Bhattacharya SS.
|
| Invest Ophthalmol Vis Sci. 51(8):4266-72. 2010
|
| 4 | EYS, RP25
|
| EYS, encoding an ortholog of Drosophila spacemaker, is mutated in autosomal recessive retinitis pigmentosa.
|
| Abd El-Aziz MM, Barragan I, O'Driscoll CA, Goodstadt L, Prigmore E, Borrego S, Mena M, Pieras JI, El-Ashry MF, Safieh LA, Shah A, Cheetham ME, Carter NP, Chakarova C, Ponting CP, Bhattacharya SS, Antinolo G.
|
| Nat Genet 40(11):1285-7. Epub 2008 Oct 5. 2008
|
| 5 | EYS, RP25
|
| Identification of a 2 Mb Human Ortholog of Drosophila eyes shut/spacemaker that Is Mutated in Patients with Retinitis Pigmentosa.
|
| Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP.
|
| Am J Hum Genet m J Hum Genet. 2008 Oct 29. [Epub ahead of print] 2008
|
| 6 | EYS, RP25
|
| Photoreceptors in evolution and disease.
|
| Cook B, Zelhof AC.
|
| Nat Genet 40(11):1275-6. No abstract available.
2008
|