Alstrom Syndrome: Genetics and Clinical Overview
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Published in Current genomics (01.05.2011)
Published in Current genomics (01.05.2011)
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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
Favaretto, Francesca, Milan, Gabriella, Collin, Gayle B, Marshall, Jan D, Stasi, Fabio, Maffei, Pietro, Vettor, Roberto, Naggert, Jürgen K
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Published in PloS one (09.10.2014)
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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
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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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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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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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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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Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731
Knorz, Victoria J, Spalluto, Cosma, Lessard, Mark, Purvis, Tracey L, Adigun, Fiona F, Collin, Gayle B, Hanley, Neil A, Wilson, David I, Hearn, Thomas
Published in Molecular biology of the cell (01.11.2010)
Published in Molecular biology of the cell (01.11.2010)
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ALMS1-deficient fibroblasts over-express extra-cellular matrix components, display cell cycle delay and are resistant to apoptosis
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
Published in PloS one (26.04.2011)
Published in PloS one (26.04.2011)
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Arrayed primer extension technology simplifies mutation detection in Bardet-Biedl and Alström syndrome
PEREIRO, Ines, HOSKINS, Bethan E, MARSHALL, Jan D, COLLIN, Gayle B, NAGGERT, Jürgen K, PINEIRO-GALLEGO, Teresa, OITMAA, Eneli, KATSANIS, Nicholas, VALVERDE, Diana, BEALES, Philip L
Published in European journal of human genetics : EJHG (01.04.2011)
Published in European journal of human genetics : EJHG (01.04.2011)
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Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models
Xue, Yunlu, Sun, Xiaomei, Wang, Sean K, Collin, Gayle B, Kefalov, Vladimir J, Cepko, Constance L
Published in Proceedings of the National Academy of Sciences - PNAS (06.06.2023)
Published in Proceedings of the National Academy of Sciences - PNAS (06.06.2023)
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Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs
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
Published in PloS one (2014)
Published in PloS one (2014)
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Alström Syndrome: Mutation Spectrum of ALMS1
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.
Published in Human mutation (01.07.2015)
Published in Human mutation (01.07.2015)
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Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation
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
Published in Human molecular genetics (15.12.2015)
Published in Human molecular genetics (15.12.2015)
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Mouse Models of NMNAT1 -Leber Congenital Amaurosis (LCA9) Recapitulate Key Features of the Human Disease
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
Published in The American journal of pathology (01.07.2016)
Published in The American journal of pathology (01.07.2016)
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Identification of Arhgef12 and Prkci as genetic modifiers of retinal dysplasia in the Crb1 rd8 mouse model
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
Published in PLoS genetics (01.06.2022)
Published in PLoS genetics (01.06.2022)
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