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

af Sinai, Laleh, Ivakine, Evgueni A., Lam, Emily, Deurloo, Marielle, Dida, Joana, Zirngibl, Ralph A.
Udgivet i eNeuro (2015)

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

af Scott, Ori, Lindsay, Kyle, Erwood, Steven, Mollica, Antonio, Roifman, Chaim M., Cohn, Ronald D., Ivakine, Evgueni A.
Udgivet i NPJ Genom Med (2021)

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

af Erwood, Steven, Brewer, Reid A., Bily, Teija M.I., Maino, Eleonora, Zhou, Liangchi, Cohn, Ronald D., Ivakine, Evgueni A.
Udgivet i Genome Res (2019)

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

af Erwood, Steven, Laselva, Onofrio, Bily, Teija M.I., Brewer, Reid A., Rutherford, Alexandra H., Bear, Christine E., Ivakine, Evgueni A.
Udgivet i Mol Ther Methods Clin Dev (2020)

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

af 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.
Udgivet i Front Cell Neurosci (2015)

Neto2 is a KCC2 interacting protein required for neuronal Cl(−) regulation in hippocampal neurons

af Ivakine, Evgueni A., Acton, Brooke A., Mahadevan, Vivek, Ormond, Jake, Tang, Man, Pressey, Jessica C., Huang, Michelle Y., Ng, David, Delpire, Eric, Salter, Michael W., Woodin, Melanie A., McInnes, Roderick R.
Udgivet 2013

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

af 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.
Udgivet i Dis Model Mech (2020)

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

af 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.
Udgivet i Cell Rep (2014)

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

af 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
Udgivet i EMBO Mol Med (2021)

Spell Checking Nature: Versatility of CRISPR/Cas9 for Developing Treatments for Inherited Disorders

af Wojtal, Daria, Kemaladewi, Dwi U., Malam, Zeenat, Abdullah, Sarah, Wong, Tatianna W.Y., Hyatt, Elzbieta, Baghestani, Zahra, Pereira, Sergio, Stavropoulos, James, Mouly, Vincent, Mamchaoui, Kamel, Muntoni, Francesco, Voit, Thomas, Gonorazky, Hernan D., Dowling, James J., Wilson, Michael D., Mendoza-Londono, Roberto, Ivakine, Evgueni A., Cohn, Ronald D.
Udgivet i Am J Hum Genet (2016)