Alstrom Syndrome: Genetics and Clinical Overview
Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K
Published in Current genomics (01.05.2011)
Published in Current genomics (01.05.2011)
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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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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)
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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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Comprehensive Endocrine-Metabolic Evaluation of Patients With Alström Syndrome Compared With BMI-Matched Controls
Han, Joan C, Reyes-Capo, Daniela P, Liu, Chia-Ying, Reynolds, James C, Turkbey, Evrim, Turkbey, Ismail Baris, Bryant, Joy, Marshall, Jan D, Naggert, Jürgen K, Gahl, William A, Yanovski, Jack A, Gunay-Aygun, Meral
Published in The journal of clinical endocrinology and metabolism (01.07.2018)
Published in The journal of clinical endocrinology and metabolism (01.07.2018)
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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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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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Characteristics of cardiomyopathy in Alström syndrome: Prospective single-center data on 38 patients
Brofferio, Alessandra, Sachdev, Vandana, Hannoush, Hwaida, Marshall, Jan D., Naggert, Jürgen K., Sidenko, Stanislav, Noreuil, Anna, Sirajuddin, Arlene, Bryant, Joy, Han, Joan C., Arai, Andrew E., Gahl, William A., Gunay-Aygun, Meral
Published in Molecular genetics and metabolism (01.08.2017)
Published in Molecular genetics and metabolism (01.08.2017)
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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
Published in PloS one (09.10.2014)
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
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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An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency
Kong, Yang, Zhao, Lihong, Charette, Jeremy R, Hicks, Wanda L, Stone, Lisa, Nishina, Patsy M, Naggert, Jürgen K
Published in Human molecular genetics (01.10.2018)
Published in Human molecular genetics (01.10.2018)
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Multiple trait measurements in 43 inbred mouse strains capture the phenotypic diversity characteristic of human populations
Svenson, Karen L, Von Smith, Randy, Magnani, Phyllis A, Suetin, Heather R, Paigen, Beverly, Naggert, Jurgen K, Li, Renhua, Churchill, Gary A, Peters, Luanne L
Published in Journal of applied physiology (1985) (01.06.2007)
Published in Journal of applied physiology (1985) (01.06.2007)
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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 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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CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina
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.
Published in Human molecular genetics (01.09.2003)
Published in Human molecular genetics (01.09.2003)
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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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