Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models von Xue, Yunlu, Sun, Xiaomei, Wang, Sean K, Collin, Gayle B, Kefalov, Vladimir J, Cepko, Constance L

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GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance von Favaretto, Francesca, Milan, Gabriella, Collin, Gayle B, Marshall, Jan D, Stasi, Fabio, Maffei, Pietro, Vettor, Roberto, Naggert, Jürgen K

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Alstrom Syndrome: Genetics and Clinical Overview von Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K

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Mouse models of human ocular disease for translational research von 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

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Alström Syndrome: Mutation Spectrum of ALMS1 von Marshall, Jan D., Muller, Jean, Collin, Gayle B., Milan, Gabriella, Kingsmore, Stephen F., Dinwiddie, Darrell, Farrow, Emily G., Miller, Neil A., Favaretto, Francesca, Maffei, Pietro, Dollfus, Hélène, Vettor, Roberto, Naggert, Jürgen K.

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The Alström syndrome protein, ALMS1, interacts with α-actinin and components of the endosome recycling pathway von Collin, Gayle B, Marshall, Jan D, King, Benjamin L, Milan, Gabriella, Maffei, Pietro, Jagger, Daniel J, Naggert, Jürgen K

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Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss von 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

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Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1rd8 mouse model von 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

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Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes von Gogna, Navdeep, Weatherly, Sonia, Zhao, Fuxin, Collin, Gayle B, Pinkney, Jai, Stone, Lisa, Naggert, Jürgen K, Carter, Gregory W, Nishina, Patsy M

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ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis von Zulato, Elisabetta, Favaretto, Francesca, Veronese, Caterina, Campanaro, Stefano, Marshall, Jan D, Romano, Sara, Cabrelle, Anna, Collin, Gayle B, Zavan, Barbara, Belloni, Anna S, Rampazzo, Enrica, Naggert, Jürgen K, Abatangelo, Giovanni, Sicolo, Nicola, Maffei, Pietro, Milan, Gabriella, Vettor, Roberto

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A Dpagt1 Missense Variant Causes Degenerative Retinopathy without Myasthenic Syndrome in Mice von 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

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A Splicing Mutation in Slc4a5 Results in Retinal Detachment and Retinal Pigment Epithelium Dysfunction von 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

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Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731 von Knorz, Victoria J, Spalluto, Cosma, Lessard, Mark, Purvis, Tracey L, Adigun, Fiona F, Collin, Gayle B, Hanley, Neil A, Wilson, David I, Hearn, Thomas

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Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation von Collin, Gayle B, Hubmacher, Dirk, Charette, Jeremy R, Hicks, Wanda L, Stone, Lisa, Yu, Minzhong, Naggert, Jürgen K, Krebs, Mark P, Peachey, Neal S, Apte, Suneel S, Nishina, Patsy M

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A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e von Naggert, Anna S E N, Collin, Gayle B, Wang, Jieping, Krebs, Mark P, Chang, Bo

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Mouse Models of NMNAT1 -Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease von Greenwald, Scott H, Charette, Jeremy R, Staniszewska, Magdalena, Shi, Lan Ying, Brown, Steve D.M, Stone, Lisa, Liu, Qin, Hicks, Wanda L, Collin, Gayle B, Bowl, Michael R, Krebs, Mark P, Nishina, Patsy M, Pierce, Eric A

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Mutations in Alström protein impair terminal differentiation of cardiomyocytes von Shenje, Lincoln T., Andersen, Peter, Halushka, Marc K., Lui, Cecillia, Fernandez, Laviel, Collin, Gayle B., Amat-Alarcon, Nuria, Meschino, Wendy, Cutz, Ernest, Chang, Kenneth, Yonescu, Raluca, Batista, Denise A. S., Chen, Yan, Chelko, Stephen, Crosson, Jane E., Scheel, Janet, Vricella, Luca, Craig, Brian D., Marosy, Beth A., Mohr, David W., Hetrick, Kurt N., Romm, Jane M., Scott, Alan F., Valle, David, Naggert, Jürgen K., Kwon, Chulan, Doheny, Kimberly F., Judge, Daniel P.

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Alström Syndrome protein ALMS1 localizes to basal bodies of cochlear hair cells and regulates cilium-dependent planar cell polarity von JAGGER, Daniel, COLLIN, Gayle, NAGGERT, Jürgen, FORGE, Andrew, KELLY, John, TOWERS, Emily, NEVILL, Graham, LONGO-GUESS, Chantal, BENSON, Jennifer, HALSEY, Karin, DOLAN, David, MARSHALL, Jan

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Spectrum of ALMS1 variants and evaluation of genotype-phenotype correlations in Alström syndrome von Marshall, Jan D, Hinman, Elizabeth G, Collin, Gayle B, Beck, Sebastian, Cerqueira, Rita, Maffei, Pietro, Milan, Gabriella, Zhang, Weidong, Wilson, David I, Hearn, Tom, Tavares, Purificação, Vettor, Roberto, Veronese, Caterina, Martin, Mitchell, So, W. Venus, Nishina, Patsy M, Naggert, Jürgen K

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

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