Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion
Ji, Xiaojie, Zhao, Lihong, Umapathy, Ankita, Fitzmaurice, Bernard, Wang, Jieping, Williams, David S, Chang, Bo, Naggert, Jürgen K, Nishina, Patsy M
Published in PloS one (03.03.2022)
Published in PloS one (03.03.2022)
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Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model
Weatherly, Sonia M, Collin, Gayle B, Charette, Jeremy R, Stone, Lisa, Damkham, Nattaya, Hyde, Lillian F, Peterson, James G, Hicks, Wanda, Carter, Gregory W, Naggert, Jürgen K, Krebs, Mark P, Nishina, Patsy M
Published in PLoS genetics (01.06.2022)
Published in PLoS genetics (01.06.2022)
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Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration
Zhao, Lihong, Spassieva, Stefka, Gable, Kenneth, Gupta, Sita D., Shi, Lan-Ying, Wang, Jieping, Bielawski, Jacek, Hicks, Wanda L., Krebs, Mark P., Naggert, Juergen, Hannun, Yusuf A., Dunn, Teresa M., Nishina, Patsy M.
Published in Proceedings of the National Academy of Sciences - PNAS (20.10.2015)
Published in Proceedings of the National Academy of Sciences - PNAS (20.10.2015)
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Mouse models of human ocular disease for translational research
Krebs, Mark P, Collin, Gayle B, Hicks, Wanda L, Yu, Minzhong, Charette, Jeremy R, Shi, Lan Ying, Wang, Jieping, Naggert, Jürgen K, Peachey, Neal S, Nishina, Patsy M
Published in PloS one (31.08.2017)
Published in PloS one (31.08.2017)
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Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Collin, Gayle B, Gogna, Navdeep, Chang, Bo, Damkham, Nattaya, Pinkney, Jai, Hyde, Lillian F, Stone, Lisa, Naggert, Jürgen K, Nishina, Patsy M, Krebs, Mark P
Published in Cells (Basel, Switzerland) (10.04.2020)
Published in Cells (Basel, Switzerland) (10.04.2020)
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Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium
Pandey, Ravi S, Krebs, Mark P, Bolisetty, Mohan T, Charette, Jeremy R, Naggert, Jürgen K, Robson, Paul, Nishina, Patsy M, Carter, Gregory W
Published in International journal of molecular sciences (08.09.2022)
Published in International journal of molecular sciences (08.09.2022)
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A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis
Yang, Yeming, Li, Xiao, Wang, Jieping, Tan, Junkai, Fitzmaurice, Bernie, Nishina, Patsy M., Sun, Kuanxiang, Tian, Wanli, Liu, Wenjing, Liu, Xuyang, Chang, Bo, Zhu, Xianjun
Published in Cell death & disease (29.10.2021)
Published in Cell death & disease (29.10.2021)
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Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes
Gogna, Navdeep, Weatherly, Sonia, Zhao, Fuxin, Collin, Gayle B, Pinkney, Jai, Stone, Lisa, Naggert, Jürgen K, Carter, Gregory W, Nishina, Patsy M
Published in International journal of molecular sciences (30.01.2022)
Published in International journal of molecular sciences (30.01.2022)
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A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice
Hyde, Lillian F, Kong, Yang, Zhao, Lihong, Rao, Sriganesh Ramachandra, Wang, Jieping, Stone, Lisa, Njaa, Andrew, Collin, Gayle B, Krebs, Mark P, Chang, Bo, Fliesler, Steven J, Nishina, Patsy M, Naggert, Jürgen K
Published in International journal of molecular sciences (09.10.2022)
Published in International journal of molecular sciences (09.10.2022)
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A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction
Collin, Gayle B, Shi, Lanying, Yu, Minzhong, Akturk, Nurten, Charette, Jeremy R, Hyde, Lillian F, Weatherly, Sonia M, Pera, Martin F, Naggert, Jürgen K, Peachey, Neal S, Nishina, Patsy M, Krebs, Mark P
Published in International journal of molecular sciences (17.02.2022)
Published in International journal of molecular sciences (17.02.2022)
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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
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
Published in The Journal of clinical investigation (01.06.2011)
Published in The Journal of clinical investigation (01.06.2011)
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NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development
WON, Jungyeon, MARIN DE EVSIKOVA, Caralina, SMITH, Richard S, HICKS, Wanda L, EDWARDS, Malia M, LONGO-GUESS, Chantal, TIANSEN LI, NAGGERT, Jürgen K, NISHINA, Patsy M
Published in Human molecular genetics (01.02.2011)
Published in Human molecular genetics (01.02.2011)
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Mutations in Lama1 Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation
Edwards, Malia M., Mammadova-Bach, Elmina, Alpy, Fabien, Klein, Annick, Hicks, Wanda L., Roux, Michel, Simon-Assmann, Patricia, Smith, Richard S., Orend, Gertraud, Wu, Jiang, Peachey, Neal S., Naggert, Jürgen K., Lefebvre, Olivier, Nishina, Patsy M.
Published in The Journal of biological chemistry (05.03.2010)
Published in The Journal of biological chemistry (05.03.2010)
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Journal Article
RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis
Won, Jungyeon, Gifford, Elaine, Smith, Richard S., Yi, Haiqing, Ferreira, Paulo A., Hicks, Wanda L., Li, Tiansen, Naggert, Jürgen K., Nishina, Patsy M.
Published in Human molecular genetics (15.11.2009)
Published in Human molecular genetics (15.11.2009)
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Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation
Peachey, Neal S, Pearring, Jillian N, Bojang, Jr, Pasano, Hirschtritt, Matthew E, Sturgill-Short, Gwen, Ray, Thomas A, Furukawa, Takahisa, Koike, Chieko, Goldberg, Andrew F X, Shen, Yin, McCall, Maureen A, Nawy, Scott, Nishina, Patsy M, Gregg, Ronald G
Published in Journal of neurophysiology (01.11.2012)
Published in Journal of neurophysiology (01.11.2012)
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Prefoldin 5 Is Required for Normal Sensory and Neuronal Development in a Murine Model
Lee, YongSuk, Smith, Richard S., Jordan, Wanda, King, Benjamin L., Won, Jungyeon, Valpuesta, Jose M., Naggert, Jurgen K., Nishina, Patsy M.
Published in The Journal of biological chemistry (07.01.2011)
Published in The Journal of biological chemistry (07.01.2011)
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Journal Article
Mouse Model Resources for Vision Research
Won, Jungyeon, Shi, Lan Ying, Hicks, Wanda, Wang, Jieping, Hurd, Ronald, Naggert, Jürgen K., Chang, Bo, Nishina, Patsy M.
Published in Journal of ophthalmology (01.01.2011)
Published in Journal of ophthalmology (01.01.2011)
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Epithelial mechanics are maintained by inhibiting cell fusion with age in Drosophila
Dehn, Ari S, Duhaime, Levi, Gogna, Navdeep, Nishina, Patsy M, Kelley, Kristina, Losick, Vicki P
Published in Journal of cell science (15.10.2023)
Published in Journal of cell science (15.10.2023)
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