Search Results - "NISHINA, M"

Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion by Ji, Xiaojie, Zhao, Lihong, Umapathy, Ankita, Fitzmaurice, Bernard, Wang, Jieping, Williams, David S, Chang, Bo, Naggert, Jürgen K, Nishina, Patsy M

“…Chediak-Higashi syndrome, caused by mutations in the Lysosome Trafficking Regulator (Lyst) gene, is a recessive hypopigmentation disorder characterized by…”
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Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model by 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

“…Mutations in the apicobasal polarity gene CRB1 lead to diverse retinal diseases, such as Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa…”
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Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration by 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.

“…Sphingolipids typically have an 18-carbon (C18) sphingoid long chain base (LCB) backbone. Although sphingolipids with LCBs of other chain lengths have been…”
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Mouse models of human ocular disease for translational research by 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

“…Mouse models provide a valuable tool for exploring pathogenic mechanisms underlying inherited human disease. Here, we describe seven mouse models identified…”
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Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss by 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

“…Inherited retinal degeneration (RD) leads to the impairment or loss of vision in millions of individuals worldwide, most frequently due to the loss of…”
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Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium by Pandey, Ravi S, Krebs, Mark P, Bolisetty, Mohan T, Charette, Jeremy R, Naggert, Jürgen K, Robson, Paul, Nishina, Patsy M, Carter, Gregory W

“…Transcriptomic analysis of the mammalian retinal pigment epithelium (RPE) aims to identify cellular networks that influence ocular development, maintenance,…”
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A missense mutation in Pitx2 leads to early-onset glaucoma via NRF2-YAP1 axis by 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

“…Glaucoma is a leading cause of blindness, affecting 70 million people worldwide. Owing to the similarity in anatomy and physiology between human and mouse eyes…”
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Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes by Gogna, Navdeep, Weatherly, Sonia, Zhao, Fuxin, Collin, Gayle B, Pinkney, Jai, Stone, Lisa, Naggert, Jürgen K, Carter, Gregory W, Nishina, Patsy M

“…and mutant mice share similar eye disease characteristics. Previously, studies established a functional relationship of ADIPOR1 and MFRP proteins in…”
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A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice by 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

“…Congenital disorders of glycosylation (CDG) are a heterogenous group of primarily autosomal recessive mendelian diseases caused by disruptions in the synthesis…”
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A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction by 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

“…Fluid and solute transporters of the retinal pigment epithelium (RPE) are core components of the outer blood-retinal barrier. Characterizing these transporters…”
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Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1 rd8 mouse model by Weatherly, Sonia M, Gayle B. Collin, Charette, Jeremy R, Lisa Stone, Nattaya Damkham, Lillian F. Hyde, James G. Peterson, Hicks, Wanda, Gregory W. Carter, Jürgen K. Naggert, Mark P. Krebs, Patsy M. Nishina

“…Mutations in the apicobasal polarity gene CRB1 lead to diverse retinal diseases, such as Leber congenital amaurosis, cone-rod dystrophy, retinitis pigmentosa…”
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Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa by Wert, Katherine J, Davis, Richard J, Sancho-Pelluz, Javier, Nishina, Patsy M, Tsang, Stephen H

“…Approximately 36 000 cases of simplex and familial retinitis pigmentosa (RP) worldwide are caused by a loss in phosphodiesterase (PDE6) function. In the…”
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Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice by 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

“…The mutations that cause Leber congenital amaurosis (LCA) lead to photoreceptor cell death at an early age, causing childhood blindness. To unravel the…”
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NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development by 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

“…Nephronophthisis (NPHP) is an autosomal recessive kidney disease that is often associated with vision and/or brain defects. To date, 11 genes are known to…”
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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina by Mehalow, Adrienne K., Kameya, Shuhei, Smith, Richard S., Hawes, Norman L., Denegre, James M., Young, James A., Bechtold, Lesley, Haider, Neena B., Tepass, Ulrich, Heckenlively, John R., Chang, Bo, Naggert, Jürgen K., Nishina, Patsy M.

“…Mutations within the CRB1 gene have been shown to cause human retinal diseases including retinitis pigmentosa and Leber congenital amaurosis. We have recently…”
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Progress toward understanding the genetic and biochemical mechanisms of inherited photoreceptor degenerations by PACIONE, Laura R, SZEGO, Michael J, IKEDA, Sakae, NISHINA, Patsy M, MCINNES, Roderick R

“…More than 80 genes associated with human photoreceptor degenerations have been identified. Attention must now turn toward defining the mechanisms that lead to…”
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Mutations in Lama1 Disrupt Retinal Vascular Development and Inner Limiting Membrane Formation by 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.

“…The Neuromutagenesis Facility at the Jackson Laboratory generated a mouse model of retinal vasculopathy, nmf223, which is characterized clinically by vitreal…”
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RPGRIP1 is essential for normal rod photoreceptor outer segment elaboration and morphogenesis by Won, Jungyeon, Gifford, Elaine, Smith, Richard S., Yi, Haiqing, Ferreira, Paulo A., Hicks, Wanda L., Li, Tiansen, Naggert, Jürgen K., Nishina, Patsy M.

“…The function of the retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1) gene is currently not known. However, mutations within the gene lead…”
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Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation by 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

“…Mutations in TRPM1 are found in humans with an autosomal recessive form of complete congenital stationary night blindness (cCSNB). The Trpm1(-/-) mouse has…”
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Prefoldin 5 Is Required for Normal Sensory and Neuronal Development in a Murine Model by Lee, YongSuk, Smith, Richard S., Jordan, Wanda, King, Benjamin L., Won, Jungyeon, Valpuesta, Jose M., Naggert, Jurgen K., Nishina, Patsy M.

“…Molecular chaperones and co-chaperones are crucial for cellular development and maintenance as they assist in protein folding and stabilization of unfolded or…”
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