NR2E3- and NRL-associated enhanced S-cone syndrome (ESCS)

SUMMARY

NR2E3- and NRL-associated enhanced S-cone syndrome (ESCS)

 


12 PUBLICATIONS ON ENHANCED S-CONE SYNDROME

200. Roman AJ, Powers CA, Semenov EP, Sheplock R, Aksianiuk V, Russell RC, Sumaroka A, Garafalo AV, CIDECIYAN AV, Jacobson SG. Short-wavelength sensitive cone (S-cone) testing as an outcome measure for NR2E3 clinical treatment trials. International Journal of Molecular Sciences, 20:E2497, 2019. [PubMed] [Special Issue — Retinal Degeneration: From Pathophysiology to Therapeutic Approaches]

192. Garafalo AV, Calzetti G, CIDECIYAN AV, Roman AJ, Saxena S, Sumaroka A, Choi W, Wright AF, Jacobson SG. Cone vision changes in the enhanced S-cone syndrome caused by NR2E3 gene mutations. Investigative Ophthalmology & Visual Science 59:3209-3219, 2018. [PubMed]

118. Mustafi D, Kevany BM, Genoud C, Okano K, CIDECIYAN AV, Sumaroka A, Roman AJ, Jacobson SG, Engel A, Adams MD, Palczewski K. Defective photoreceptor phagocytosis in a mouse model of enhanced S-cone syndrome causes progressive retinal degeneration. FASEB Journal, 25:3157-3176, 2011. [PubMed]

76. Cheng H, Aleman TS, CIDECIYAN AV, Khanna R, Jacobson SG, Swaroop A. In vivo function of the orphan nuclear receptor NR2E3 in establishing photoreceptor identity during mammalian retinal development. Human Molecular Genetics 15:2588-602. [PubMed]

63. Wright AF, Reddick AC, Schwartz SB, Ferguson JS, Aleman TS, Kellner U, Jurklies B, Schuster A, Zrenner E, Wissinger B, Lennon A, Shu X, CIDECIYAN AV, Stone EM, Jacobson SG, and Swaroop A. Mutation analysis of NR2E3 and NRL genes in enhanced S cone syndrome. Human Mutation 24:439, 2004. [PubMed]

62. Jacobson SG, Sumaroka A, Aleman TS, CIDECIYAN AV, Schwartz SB, Roman AJ, McInnes RR, Sheffield VC, Stone EM, Swaroop A, Wright AF. Nuclear receptor NR2E3 gene mutations distort human retinal laminar architecture and cause an unusual degeneration. Human Molecular Genetics 13:1893-1902, 2004. [PubMed]

54. CIDECIYAN AV, Jacobson SG, Gupta N, Osawa S, Locke KG, Weiss ER, Wright AF, Birch DG, Milam AH. Cone deactivation kinetics and GRK1/GRK7 expression in enhanced S cone syndrome caused by mutations in NR2E3. Investigative Ophthalmology & Visual Science 44:1268-1274, 2003. [PubMed]

47. Milam AH, Rose L, CIDECIYAN AV, Barakat MR, Tang W-X, Gupta N, Aleman TS, Wright AF, Stone EM, Sheffield VC, Jacobson SG. The nuclear receptor NR2E3 plays a role in human retinal photoreceptor differentiation and degeneration. Proceedings of the National Academy of Sciences USA 99:473-478, 2002. [PubMed] [PDF]

38. Miano MG, Jacobson SG, Carothers A, Hansen I, Teague P, Lovell J, CIDECIYAN AV, Stone EM, Sheffield VC, Wright AF. Pitfalls in homozygosity mapping. American Journal of Human Genetics 67:1348-1351, 2000. [PubMed]

34. Haider NB, Jacobson SG, CIDECIYAN AV, Swiderski R, Streb LM, Searby C, Beck G, Hockey R, Hanna DB, Gorman S, Duhl D, Carmi R, Bennett J, Weleber RG, Fishman GA, Wright AF, Stone EM, Sheffield VC. Mutation of a nuclear receptor gene (NR2E3) causes enhanced S cone syndrome, a disorder of retinal cell fate. Nature Genetics 24:127-131, 2000. [PubMed] [News & Views]

18. Greenstein VC, Zaidi Q, Hood DC, De Bonet JS, Spehar B, CIDECIYAN AV, Jacobson SG. The enhanced S cone syndrome: An analysis of receptoral and post-receptoral changes. Vision Research, 36:3711-3722, 1996. [PubMed]

8. Hood DC, CIDECIYAN AV, Roman AJ and Jacobson SG. Enhanced S cone syndrome: Evidence for an abnormally large number of S cones. Vision Research 35:1473-1481, 1995. [PubMed]


Last updated May 24, 2019