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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: bjornsson ht. Hum Mol Genet. 2022 Oct 28;31(21):3715-3728. doi: 10.1093/hmg/ddac121. Hum Mol Genet. 2022. PMID: 35640156 Free PMC article.
A ketogenic diet rescues hippocampal memory defects in a mouse model of Kabuki syndrome.
Benjamin JS, Pilarowski GO, Carosso GA, Zhang L, Huso DL, Goff LA, Vernon HJ, Hansen KD, Bjornsson HT. Benjamin JS, et al. Among authors: bjornsson ht. Proc Natl Acad Sci U S A. 2017 Jan 3;114(1):125-130. doi: 10.1073/pnas.1611431114. Epub 2016 Dec 20. Proc Natl Acad Sci U S A. 2017. PMID: 27999180 Free PMC article.
Patients with a Kabuki syndrome phenotype demonstrate DNA methylation abnormalities.
Sobreira N, Brucato M, Zhang L, Ladd-Acosta C, Ongaco C, Romm J, Doheny KF, Mingroni-Netto RC, Bertola D, Kim CA, Perez AB, Melaragno MI, Valle D, Meloni VA, Bjornsson HT. Sobreira N, et al. Among authors: bjornsson ht. Eur J Hum Genet. 2017 Dec;25(12):1335-1344. doi: 10.1038/s41431-017-0023-0. Epub 2017 Nov 7. Eur J Hum Genet. 2017. PMID: 29255178 Free PMC article.
Inhibition of KDM1A activity restores adult neurogenesis and improves hippocampal memory in a mouse model of Kabuki syndrome.
Zhang L, Pilarowski G, Pich EM, Nakatani A, Dunlop J, Baba R, Matsuda S, Daini M, Hattori Y, Matsumoto S, Ito M, Kimura H, Bjornsson HT. Zhang L, et al. Among authors: bjornsson ht. Mol Ther Methods Clin Dev. 2021 Feb 18;20:779-791. doi: 10.1016/j.omtm.2021.02.011. eCollection 2021 Mar 12. Mol Ther Methods Clin Dev. 2021. PMID: 33738331 Free PMC article.
71 results