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

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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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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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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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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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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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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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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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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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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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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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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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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome von Pereiro, Ines, Hoskins, Bethan E, Marshall, Jan D, Collin, Gayle B, Naggert, Jürgen K, Piñeiro-Gallego, Teresa, Oitmaa, Eneli, Katsanis, Nicholas, Valverde, Diana, Beales, Philip L

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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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Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs von Soundararajan, Ramani, Won, Jungyeon, Stearns, Timothy M, Charette, Jeremy R, Hicks, Wanda L, Collin, Gayle B, Naggert, Jürgen K, Krebs, Mark P, Nishina, Patsy M

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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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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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Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1 rd8 mouse model von 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

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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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