Alström Syndrome: Genetics and Clinical Overview

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

Mouse Model Resources for Vision Research

por Won, Jungyeon, Shi, Lan Ying, Hicks, Wanda, Wang, Jieping, Hurd, Ronald, Naggert, Jürgen K., Chang, Bo, Nishina, Patsy M.
Publicado 2011

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

Deficiency in Lyst function leads to accumulation of secreted proteases and reduced retinal adhesion

por Ji, Xiaojie, Zhao, Lihong, Umapathy, Ankita, Fitzmaurice, Bernard, Wang, Jieping, Williams, David S., Chang, Bo, Naggert, Jürgen K., Nishina, Patsy M.
Publicado 2022

Searching QTL by gene expression: analysis of diabesity

por Brown, Aaron C, Olver, William I, Donnelly, Charles J, May, Marjorie E, Naggert, Jürgen K, Shaffer, Daniel J, Roopenian, Derry C
Publicado 2005

Single-Cell RNA Sequencing Reveals Molecular Features of Heterogeneity in the Murine Retinal Pigment Epithelium

por Pandey, Ravi S., Krebs, Mark P., Bolisetty, Mohan T., Charette, Jeremy R., Naggert, Jürgen K., Robson, Paul, Nishina, Patsy M., Carter, Gregory W.
Publicado 2022

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

Brain involvement in Alström syndrome

por Citton, Valentina, Favaro, Angela, Bettini, Vera, Gabrieli, Joseph, Milan, Gabriella, Greggio, Nella Augusta, Marshall, Jan D, Naggert, Jürgen K, Manara, Renzo, Maffei, Pietro
Publicado 2013

Triple Vectors Expand AAV Transfer Capacity in the Retina

por Maddalena, Andrea, Tornabene, Patrizia, Tiberi, Paola, Minopoli, Renato, Manfredi, Anna, Mutarelli, Margherita, Rossi, Settimio, Simonelli, Francesca, Naggert, Jurgen K., Cacchiarelli, Davide, Auricchio, Alberto
Publicado 2018

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