| Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and genetic testing. (HuGE Navigator) | Integrative predictive model of coronary artery calcification in atherosclerosis.
McGeachie M, Ramoni RL, Mychaleckyj JC, Furie KL, Dreyfuss JM, Liu Y, Herrington D, Guo X, Lima JA, Post W, Rotter JI, Rich S, Sale M, Ramoni MF., Free PMC Article | 04/7/2010 |
| This is the first report describing a nonsense mutation in RGS9. | Novel mutations and electrophysiologic findings in RGS9- and R9AP-associated retinal dysfunction (Bradyopsia).
Michaelides M, Li Z, Rana NA, Richardson EC, Hykin PG, Moore AT, Holder GE, Webster AR. | 02/22/2010 |
| As the light level is increased and the PDE6* concentration in the normal rises relative to that in the observer lacking RGS9-1, the temporal advantage of the latter is soon lost, leaving only the deficit due to delayed deactivation. | The loss of the PDE6 deactivating enzyme, RGS9, results in precocious light adaptation at low light levels.
Stockman A, Smithson HE, Webster AR, Holder GE, Rana NA, Ripamonti C, Sharpe LT. | 01/21/2010 |
| homozygous mutations in R9AP gene that encodes the photoreceptor GTPase accelerating protein and its anchor protein, respectively, have been identifird in patients with bradyopsia. | Bradyopsia in an Asian man.
Cheng JY, Luu CD, Yong VH, Mathur R, Aung T, Vithana EN. | 01/21/2010 |
| five unrelated patients with recessive mutations in the genes encoding either RGS9 or R9AP who report difficulty adapting to sudden changes in luminance levels mediated by cones | Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation.
Nishiguchi KM, Sandberg MA, Kooijman AC, Martemyanov KA, Pott JW, Hagstrom SA, Arshavsky VY, Berson EL, Dryja TP. | 01/21/2010 |