A Mutation in Syne2 Causes Early Retinal Defects in Photoreceptors, Secondary Neurons, and Müller Glia

Por Maddox, Dennis M., Collin, Gayle B., Ikeda, Akihiro, Pratt, C. Herbert, Ikeda, Sakae, Johnson, Britt A., Hurd, Ron E., Shopland, Lindsay S., Naggert, Jürgen K., Chang, Bo, Krebs, Mark P., Nishina, Patsy M.
Publicado no Invest Ophthalmol Vis Sci (2015)

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse

Por Chang, Bo, Khanna, Hemant, Hawes, Norman, Jimeno, David, He, Shirley, Lillo, Concepcion, Parapuram, Sunil K., Cheng, Hong, Scott, Alison, Hurd, Ron E., Sayer, John A., Otto, Edgar A., Attanasio, Massimo, O’Toole, John F., Jin, Genglin, Shou, Chengchao, Hildebrandt, Friedhelm, Williams, David S., Heckenlively, John R., Swaroop, Anand
Publicado em 2006

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice

Por Boldt, Karsten, Mans, Dorus A., Won, Jungyeon, van Reeuwijk, Jeroen, Vogt, Andreas, Kinkl, Norbert, Letteboer, Stef J.F., Hicks, Wanda L., Hurd, Ron E., Naggert, Jürgen K., Texier, Yves, den Hollander, Anneke I., Koenekoop, Robert K., Bennett, Jean, Cremers, Frans P.M., Gloeckner, Christian J., Nishina, Patsy M., Roepman, Ronald, Ueffing, Marius
Publicado em 2011

Loss of lysophosphatidylcholine acyltransferase 1 leads to photoreceptor degeneration in rd11 mice

Por Friedman, James S., Chang, Bo, Krauth, Daniel S., Lopez, Irma, Waseem, Naushin H., Hurd, Ron E., Feathers, Kecia L., Branham, Kari E., Shaw, Manessa, Thomas, George E., Brooks, Matthew J., Liu, Chunqiao, Bakeri, Hirva A., Campos, Maria M., Maubaret, Cecilia, Webster, Andrew R., Rodriguez, Ignacio R., Thompson, Debra A., Bhattacharya, Shomi S., Koenekoop, Robert K., Heckenlively, John R., Swaroop, Anand
Publicado em 2010