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Items: 13

1.

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

Erwood S, Brewer RA, Bily TMI, Maino E, Zhou L, Cohn RD, Ivakine EA.

Genome Res. 2019 Dec;29(12):2010-2019. doi: 10.1101/gr.250720.119. Epub 2019 Nov 21.

PMID:
31754021
2.

A mutation-independent approach for muscular dystrophy via upregulation of a modifier gene.

Kemaladewi DU, Bassi PS, Erwood S, Al-Basha D, Gawlik KI, Lindsay K, Hyatt E, Kember R, Place KM, Marks RM, Durbeej M, Prescott SA, Ivakine EA, Cohn RD.

Nature. 2019 Aug;572(7767):125-130. doi: 10.1038/s41586-019-1430-x. Epub 2019 Jul 24.

PMID:
31341277
3.

Increased polyamines as protective disease modifiers in congenital muscular dystrophy.

Kemaladewi DU, Benjamin JS, Hyatt E, Ivakine EA, Cohn RD.

Hum Mol Genet. 2018 Jun 1;27(11):1905-1912. doi: 10.1093/hmg/ddy097.

PMID:
29566247
4.

Correction of a splicing defect in a mouse model of congenital muscular dystrophy type 1A using a homology-directed-repair-independent mechanism.

Kemaladewi DU, Maino E, Hyatt E, Hou H, Ding M, Place KM, Zhu X, Bassi P, Baghestani Z, Deshwar AG, Merico D, Xiong HY, Frey BJ, Wilson MD, Ivakine EA, Cohn RD.

Nat Med. 2017 Aug;23(8):984-989. doi: 10.1038/nm.4367. Epub 2017 Jul 17.

PMID:
28714989
5.

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

Wojtal D, Kemaladewi DU, Malam Z, Abdullah S, Wong TW, Hyatt E, Baghestani Z, Pereira S, Stavropoulos J, Mouly V, Mamchaoui K, Muntoni F, Voit T, Gonorazky HD, Dowling JJ, Wilson MD, Mendoza-Londono R, Ivakine EA, Cohn RD.

Am J Hum Genet. 2016 Jan 7;98(1):90-101. doi: 10.1016/j.ajhg.2015.11.012. Epub 2015 Dec 10.

6.

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

Sinai L, Ivakine EA, Lam E, Deurloo M, Dida J, Zirngibl RA, Jung C, Aubin JE, Feng ZP, Yeomans J, McInnes RR, Osborne LR, Roder JC.

eNeuro. 2015 Mar 30;2(2). pii: ENEURO.0016-14.2015. doi: 10.1523/ENEURO.0016-14.2015. eCollection 2015 Mar-Apr.

7.

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

Mahadevan V, Dargaei Z, Ivakine EA, Hartmann AM, Ng D, Chevrier J, Ormond J, Nothwang HG, McInnes RR, Woodin MA.

Front Cell Neurosci. 2015 Sep 23;9:368. doi: 10.3389/fncel.2015.00368. eCollection 2015.

8.

Kainate receptors coexist in a functional complex with KCC2 and regulate chloride homeostasis in hippocampal neurons.

Mahadevan V, Pressey JC, Acton BA, Uvarov P, Huang MY, Chevrier J, Puchalski A, Li CM, Ivakine EA, Airaksinen MS, Delpire E, McInnes RR, Woodin MA.

Cell Rep. 2014 Jun 26;7(6):1762-70. doi: 10.1016/j.celrep.2014.05.022. Epub 2014 Jun 5.

9.

Maintaining skeletal muscle mass: lessons learned from hibernation.

Ivakine EA, Cohn RD.

Exp Physiol. 2014 Apr;99(4):632-7. doi: 10.1113/expphysiol.2013.074344. Epub 2014 Jan 17.

10.

Neto2 is a KCC2 interacting protein required for neuronal Cl- regulation in hippocampal neurons.

Ivakine EA, Acton BA, Mahadevan V, Ormond J, Tang M, Pressey JC, Huang MY, Ng D, Delpire E, Salter MW, Woodin MA, McInnes RR.

Proc Natl Acad Sci U S A. 2013 Feb 26;110(9):3561-6. doi: 10.1073/pnas.1212907110. Epub 2013 Feb 11.

11.

The idd4 locus displays sex-specific epistatic effects on type 1 diabetes susceptibility in nonobese diabetic mice.

Ivakine EA, Mortin-Toth SM, Gulban OM, Valova A, Canty A, Scott C, Danska JS.

Diabetes. 2006 Dec;55(12):3611-9.

12.

Molecular genetic analysis of the Idd4 locus implicates the IFN response in type 1 diabetes susceptibility in nonobese diabetic mice.

Ivakine EA, Gulban OM, Mortin-Toth SM, Wankiewicz E, Scott C, Spurrell D, Canty A, Danska JS.

J Immunol. 2006 Mar 1;176(5):2976-90.

13.

Sex-specific effect of insulin-dependent diabetes 4 on regulation of diabetes pathogenesis in the nonobese diabetic mouse.

Ivakine EA, Fox CJ, Paterson AD, Mortin-Toth SM, Canty A, Walton DS, Aleksa K, Ito S, Danska JS.

J Immunol. 2005 Jun 1;174(11):7129-40.

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