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Page 1
Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons.
Bell S, Rousseau J, Peng H, Aouabed Z, Priam P, Theroux JF, Jefri M, Tanti A, Wu H, Kolobova I, Silviera H, Manzano-Vargas K, Ehresmann S, Hamdan FF, Hettige N, Zhang X, Antonyan L, Nassif C, Ghaloul-Gonzalez L, Sebastian J, Vockley J, Begtrup AG, Wentzensen IM, Crunk A, Nicholls RD, Herman KC, Deignan JL, Al-Hertani W, Efthymiou S, Salpietro V, Miyake N, Makita Y, Matsumoto N, Østern R, Houge G, Hafström M, Fassi E, Houlden H, Klein Wassink-Ruiter JS, Nelson D, Goldstein A, Dabir T, van Gils J, Bourgeron T, Delorme R, Cooper GM, Martinez JE, Finnila CR, Carmant L, Lortie A, Oegema R, van Gassen K, Mehta SG, Huhle D, Abou Jamra R, Martin S, Brunner HG, Lindhout D, Au M, Graham JM Jr, Coubes C, Turecki G, Gravel S, Mechawar N, Rossignol E, Michaud JL, Lessard J, Ernst C, Campeau PM. Bell S, et al. Among authors: hettige n. Am J Hum Genet. 2019 May 2;104(5):815-834. doi: 10.1016/j.ajhg.2019.03.022. Epub 2019 Apr 25. Am J Hum Genet. 2019. PMID: 31031012 Free PMC article.
Kabuki syndrome stem cell models reveal locus specificity of histone methyltransferase 2D (KMT2D/MLL4).
Jefri M, Zhang X, Stumpf PS, Zhang L, Peng H, Hettige N, Theroux JF, Aouabed Z, Wilson K, Deshmukh S, Antonyan L, Ni A, Alsuwaidi S, Zhang Y, Jabado N, Garcia BA, Schuppert A, Bjornsson HT, Ernst C. Jefri M, et al. Among authors: hettige n. Hum Mol Genet. 2022 Oct 28;31(21):3715-3728. doi: 10.1093/hmg/ddac121. Hum Mol Genet. 2022. PMID: 35640156 Free PMC article.
FOXG1 Dose in Brain Development.
Hettige NC, Ernst C. Hettige NC, et al. Front Pediatr. 2019 Nov 22;7:482. doi: 10.3389/fped.2019.00482. eCollection 2019. Front Pediatr. 2019. PMID: 31824897 Free PMC article. Review.
Stimulation of L-type calcium channels increases tyrosine hydroxylase and dopamine in ventral midbrain cells induced from somatic cells.
Jefri M, Bell S, Peng H, Hettige N, Maussion G, Soubannier V, Wu H, Silveira H, Theroux JF, Moquin L, Zhang X, Aouabed Z, Krishnan J, O'Leary LA, Antonyan L, Zhang Y, McCarty V, Mechawar N, Gratton A, Schuppert A, Durcan TM, Fon EA, Ernst C. Jefri M, et al. Among authors: hettige n. Stem Cells Transl Med. 2020 Jun;9(6):697-712. doi: 10.1002/sctm.18-0180. Epub 2020 Mar 10. Stem Cells Transl Med. 2020. PMID: 32154672 Free PMC article.
Lesch-Nyhan disease causes impaired energy metabolism and reduced developmental potential in midbrain dopaminergic cells.
Bell S, McCarty V, Peng H, Jefri M, Hettige N, Antonyan L, Crapper L, O'Leary LA, Zhang X, Zhang Y, Wu H, Sutcliffe D, Kolobova I, Rosenberger TA, Moquin L, Gratton A, Popic J, Gantois I, Stumpf PS, Schuppert AA, Mechawar N, Sonenberg N, Tremblay ML, Jinnah HA, Ernst C. Bell S, et al. Among authors: hettige n. Stem Cell Reports. 2021 Jul 13;16(7):1749-1762. doi: 10.1016/j.stemcr.2021.06.003. Epub 2021 Jul 1. Stem Cell Reports. 2021. PMID: 34214487 Free PMC article.
FOXG1 dose tunes cell proliferation dynamics in human forebrain progenitor cells.
Hettige NC, Peng H, Wu H, Zhang X, Yerko V, Zhang Y, Jefri M, Soubannier V, Maussion G, Alsuwaidi S, Ni A, Rocha C, Krishnan J, McCarty V, Antonyan L, Schuppert A, Turecki G, Fon EA, Durcan TM, Ernst C. Hettige NC, et al. Stem Cell Reports. 2022 Mar 8;17(3):475-488. doi: 10.1016/j.stemcr.2022.01.010. Epub 2022 Feb 10. Stem Cell Reports. 2022. PMID: 35148845 Free PMC article.
20 results