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Neuronal defects in a human cellular model of 22q11.2 deletion syndrome.
Khan TA, Revah O, Gordon A, Yoon SJ, Krawisz AK, Goold C, Sun Y, Kim CH, Tian Y, Li MY, Schaepe JM, Ikeda K, Amin ND, Sakai N, Yazawa M, Kushan L, Nishino S, Porteus MH, Rapoport JL, Bernstein JA, O'Hara R, Bearden CE, Hallmayer JF, Huguenard JR, Geschwind DH, Dolmetsch RE, Paşca SP. Khan TA, et al. Among authors: dolmetsch re. Nat Med. 2020 Dec;26(12):1888-1898. doi: 10.1038/s41591-020-1043-9. Epub 2020 Sep 28. Nat Med. 2020. PMID: 32989314 Free PMC article.
Modeling Timothy syndrome with iPS cells.
Yazawa M, Dolmetsch RE. Yazawa M, et al. Among authors: dolmetsch re. J Cardiovasc Transl Res. 2013 Feb;6(1):1-9. doi: 10.1007/s12265-012-9444-x. Epub 2013 Jan 9. J Cardiovasc Transl Res. 2013. PMID: 23299782 Free PMC article.
A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients.
Sun Y, Paşca SP, Portmann T, Goold C, Worringer KA, Guan W, Chan KC, Gai H, Vogt D, Chen YJ, Mao R, Chan K, Rubenstein JL, Madison DV, Hallmayer J, Froehlich-Santino WM, Bernstein JA, Dolmetsch RE. Sun Y, et al. Among authors: dolmetsch re. Elife. 2016 Jul 26;5:e13073. doi: 10.7554/eLife.13073. Elife. 2016. PMID: 27458797 Free PMC article.
Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.
Sun N, Yazawa M, Liu J, Han L, Sanchez-Freire V, Abilez OJ, Navarrete EG, Hu S, Wang L, Lee A, Pavlovic A, Lin S, Chen R, Hajjar RJ, Snyder MP, Dolmetsch RE, Butte MJ, Ashley EA, Longaker MT, Robbins RC, Wu JC. Sun N, et al. Among authors: dolmetsch re. Sci Transl Med. 2012 Apr 18;4(130):130ra47. doi: 10.1126/scitranslmed.3003552. Sci Transl Med. 2012. PMID: 22517884 Free PMC article.
74 results