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The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia.
Nehme R, Pietiläinen O, Artomov M, Tegtmeyer M, Valakh V, Lehtonen L, Bell C, Singh T, Trehan A, Sherwood J, Manning D, Peirent E, Malik R, Guss EJ, Hawes D, Beccard A, Bara AM, Hazelbaker DZ, Zuccaro E, Genovese G, Loboda AA, Neumann A, Lilliehook C, Kuismin O, Hamalainen E, Kurki M, Hultman CM, Kähler AK, Paulo JA, Ganna A, Madison J, Cohen B, McPhie D, Adolfsson R, Perlis R, Dolmetsch R, Farhi S, McCarroll S, Hyman S, Neale B, Barrett LE, Harper W, Palotie A, Daly M, Eggan K. Nehme R, et al. Among authors: dolmetsch r. Nat Commun. 2022 Jun 27;13(1):3690. doi: 10.1038/s41467-022-31436-8. Nat Commun. 2022. PMID: 35760976 Free PMC article.
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.
p53 inhibits CRISPR-Cas9 engineering in human pluripotent stem cells.
Ihry RJ, Worringer KA, Salick MR, Frias E, Ho D, Theriault K, Kommineni S, Chen J, Sondey M, Ye C, Randhawa R, Kulkarni T, Yang Z, McAllister G, Russ C, Reece-Hoyes J, Forrester W, Hoffman GR, Dolmetsch R, Kaykas A. Ihry RJ, et al. Among authors: dolmetsch r. Nat Med. 2018 Jul;24(7):939-946. doi: 10.1038/s41591-018-0050-6. Epub 2018 Jun 11. Nat Med. 2018. PMID: 29892062
Genome-wide CRISPR screen identifies protein pathways modulating tau protein levels in neurons.
Sanchez CG, Acker CM, Gray A, Varadarajan M, Song C, Cochran NR, Paula S, Lindeman A, An S, McAllister G, Alford J, Reece-Hoyes J, Russ C, Craig L, Capre K, Doherty C, Hoffman GR, Luchansky SJ, Polydoro M, Dolmetsch R, Elwood F. Sanchez CG, et al. Among authors: dolmetsch r. Commun Biol. 2021 Jun 14;4(1):736. doi: 10.1038/s42003-021-02272-1. Commun Biol. 2021. PMID: 34127790 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.
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