Disruption of Src Is Associated with Phenotypes Related to Williams-Beuren Syndrome and Altered Cellular Localization of TFII-I1,2

por Sinai, Laleh, Ivakine, Evgueni A., Lam, Emily, Deurloo, Marielle, Dida, Joana, Zirngibl, Ralph A.
Publicado 2015

STAT1 gain-of-function heterozygous cell models reveal diverse interferon-signature gene transcriptional responses

por Scott, Ori, Lindsay, Kyle, Erwood, Steven, Mollica, Antonio, Roifman, Chaim M., Cohn, Ronald D., Ivakine, Evgueni A.
Publicado 2021

Modeling Niemann–Pick disease type C in a human haploid cell line allows for patient variant characterization and clinical interpretation

por Erwood, Steven, Brewer, Reid A., Bily, Teija M.I., Maino, Eleonora, Zhou, Liangchi, Cohn, Ronald D., Ivakine, Evgueni A.
Publicado 2019

Allele-Specific Prevention of Nonsense-Mediated Decay in Cystic Fibrosis Using Homology-Independent Genome Editing

por Erwood, Steven, Laselva, Onofrio, Bily, Teija M.I., Brewer, Reid A., Rutherford, Alexandra H., Bear, Christine E., Ivakine, Evgueni A.
Publicado 2020

The human Stat1 gain-of-function T385M mutation causes expansion of activated T-follicular helper/T-helper 1-like CD4 T cells and sex-biased autoimmunity in specific pathogen-free...

por Scott, Ori, Visuvanathan, Shagana, Reddy, Emily, Mahamed, Deeqa, Gu, Bin, Roifman, Chaim M., Cohn, Ronald D., Guidos, Cynthia J., Ivakine, Evgueni A.
Publicado 2023

Neto2-null mice have impaired GABAergic inhibition and are susceptible to seizures

por Mahadevan, Vivek, Dargaei, Zahra, Ivakine, Evgueni A., Hartmann, Anna-Maria, Ng, David, Chevrier, Jonah, Ormond, Jake, Nothwang, Hans Gerd, McInnes, Roderick R., Woodin, Melanie A.
Publicado 2015

Prevention of early-onset cardiomyopathy in Dmd exon 52–54 deletion mice by CRISPR-Cas9-mediated exon skipping

por Rok, Matthew, Wong, Tatianna Wai Ying, Maino, Eleonora, Ahmed, Abdalla, Yang, Grace, Hyatt, Elzbieta, Lindsay, Kyle, Fatehi, Sina, Marks, Ryan, Delgado-Olguín, Paul, Ivakine, Evgueni A., Cohn, Ronald D.
Publicado 2023

A novel mouse model of Duchenne muscular dystrophy carrying a multi-exonic Dmd deletion exhibits progressive muscular dystrophy and early-onset cardiomyopathy

por Wong, Tatianna Wai Ying, Ahmed, Abdalla, Yang, Grace, Maino, Eleonora, Steiman, Sydney, Hyatt, Elzbieta, Chan, Parry, Lindsay, Kyle, Wong, Nicole, Golebiowski, Diane, Schneider, Joel, Delgado-Olguín, Paul, Ivakine, Evgueni A., Cohn, Ronald D.
Publicado 2020

Kainate Receptors Coexist in a Functional Complex with KCC2 and Regulate Chloride Homeostasis in Hippocampal Neurons

por Mahadevan, Vivek, Pressey, Jessica C., Acton, Brooke A., Uvarov, Pavel, Huang, Michelle Y., Chevrier, Jonah, Puchalski, Andrew, Li, Caiwei M., Ivakine, Evgueni A., Airaksinen, Matti S., Delpire, Eric, McInnes, Roderick R., Woodin, Melanie A.
Publicado 2014

Species-specific differences in NPC1 protein trafficking govern therapeutic response in Niemann-Pick type C disease

por Schultz, Mark L., Schache, Kylie J., Azaria, Ruth D., Kuiper, Esmée Q., Erwood, Steven, Ivakine, Evgueni A., Farhat, Nicole Y., Porter, Forbes D., Pathmasiri, Koralege C., Cologna, Stephanie M., Uhler, Michael D., Lieberman, Andrew P.
Publicado 2022

Targeted genome editing in vivo corrects a Dmd duplication restoring wild‐type dystrophin expression

por Maino, Eleonora, Wojtal, Daria, Evagelou, Sonia L, Farheen, Aiman, Wong, Tatianna W Y, Lindsay, Kyle, Scott, Ori, Rizvi, Samar Z, Hyatt, Elzbieta, Rok, Matthew, Visuvanathan, Shagana, Chiodo, Amanda, Schneeweiss, Michelle, Ivakine, Evgueni A, Cohn, Ronald D
Publicado 2021

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

por Tillotson, Rebekah, Yan, Keqin, Ruston, Julie, DeYoung, Taylor, Córdova, Alex, Turcotte-Cardin, Valérie, Yee, Yohan, Taylor, Christine, Visuvanathan, Shagana, Babbs, Christian, Ivakine, Evgueni A, Sled, John G, Nieman, Brian J, Picketts, David J, Justice, Monica J
Publicado 2023