Alström Syndrome: Genetics and Clinical Overview

por Marshall, Jan D, Maffei, Pietro, Collin, Gayle B, Naggert, Jürgen K
Publicado 2011

A mouse model of cone photoreceptor function loss (cpfl9) with degeneration due to a mutation in Gucy2e

por Naggert, Anna S. E. N., Collin, Gayle B., Wang, Jieping, Krebs, Mark P., Chang, Bo
Publicado 2023

Chromophore supply modulates cone function and survival in retinitis pigmentosa mouse models

por Xue, Yunlu, Sun, Xiaomei, Wang, Sean K., Collin, Gayle B., Kefalov, Vladimir J., Cepko, Constance L.
Publicado 2023

The Alström Syndrome Protein, ALMS1, Interacts with α-Actinin and Components of the Endosome Recycling Pathway

por Collin, Gayle B., Marshall, Jan D., King, Benjamin L., Milan, Gabriella, Maffei, Pietro, Jagger, Daniel J., Naggert, Jürgen K.
Publicado 2012

GLUT4 Defects in Adipose Tissue Are Early Signs of Metabolic Alterations in Alms1(GT/GT), a Mouse Model for Obesity and Insulin Resistance

por Favaretto, Francesca, Milan, Gabriella, Collin, Gayle B., Marshall, Jan D., Stasi, Fabio, Maffei, Pietro, Vettor, Roberto, Naggert, Jürgen K.
Publicado 2014

Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes

por Gogna, Navdeep, Weatherly, Sonia, Zhao, Fuxin, Collin, Gayle B., Pinkney, Jai, Stone, Lisa, Naggert, Jürgen K., Carter, Gregory W., Nishina, Patsy M.
Publicado 2022

Centriolar Association of ALMS1 and Likely Centrosomal Functions of the ALMS Motif–containing Proteins C10orf90 and KIAA1731

por Knorz, Victoria J., Spalluto, Cosma, Lessard, Mark, Purvis, Tracey L., Adigun, Fiona F., Collin, Gayle B., Hanley, Neil A., Wilson, David I., Hearn, Thomas
Publicado 2010

Gene Profiling of Postnatal Mfrp(rd6) Mutant Eyes Reveals Differential Accumulation of Prss56, Visual Cycle and Phototransduction mRNAs

por 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.
Publicado 2014

Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss

por 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.
Publicado 2020

Mouse models of human ocular disease for translational research

por 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.
Publicado 2017

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

por 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.
Publicado 2022

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

por 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.
Publicado 2022

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

por 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.
Publicado 2022

ALMS1-Deficient Fibroblasts Over-Express Extra-Cellular Matrix Components, Display Cell Cycle Delay and Are Resistant to Apoptosis

por 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
Publicado 2011

Mutations in Alström Protein Impair Terminal Differentiation of Cardiomyocytes

por 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.
Publicado 2014

Mutations in CTNNA1 cause butterfly-shaped pigment dystrophy and perturbed retinal pigment epithelium integrity

por Saksens, Nicole T.M., Krebs, Mark P., Schoenmaker-Koller, Frederieke E., Hicks, Wanda, Yu, Minzhong, Shi, Lanying, Rowe, Lucy, Collin, Gayle B., Charette, Jeremy R., Letteboer, Stef J., Neveling, Kornelia, van Moorsel, Tamara W., Abu-Ltaif, Sleiman, De Baere, Elfride, Walraedt, Sophie, Banfi, Sandro, Simonelli, Francesca, Cremers, Frans P.M., Boon, Camiel J.F., Roepman, Ronald, Leroy, Bart P., Peachey, Neal S., Hoyng, Carel B., Nishina, Patsy M., den Hollander, Anneke I.
Publicado 2015