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Whole-genome bisulfite DNA sequencing of a DNMT3B mutant patient.
Heyn H, Vidal E, Sayols S, Sanchez-Mut JV, Moran S, Medina I, Sandoval J, Simó-Riudalbas L, Szczesna K, Huertas D, Gatto S, Matarazzo MR, Dopazo J, Esteller M. Heyn H, et al. Among authors: huertas d. Epigenetics. 2012 Jun 1;7(6):542-50. doi: 10.4161/epi.20523. Epub 2012 Jun 1. Epigenetics. 2012. PMID: 22595875 Free PMC article.
Aberrant epigenetic landscape in intellectual disability.
Sanchez-Mut JV, Huertas D, Esteller M. Sanchez-Mut JV, et al. Among authors: huertas d. Prog Brain Res. 2012;197:53-71. doi: 10.1016/B978-0-444-54299-1.00004-2. Prog Brain Res. 2012. PMID: 22541288
An increase in MECP2 dosage impairs neural tube formation.
Petazzi P, Akizu N, García A, Estarás C, Martínez de Paz A, Rodríguez-Paredes M, Martínez-Balbás MA, Huertas D, Esteller M. Petazzi P, et al. Among authors: huertas d. Neurobiol Dis. 2014 Jul;67:49-56. doi: 10.1016/j.nbd.2014.03.009. Epub 2014 Mar 19. Neurobiol Dis. 2014. PMID: 24657916 Free article.
Circadian cycle-dependent MeCP2 and brain chromatin changes.
Martínez de Paz A, Sanchez-Mut JV, Samitier-Martí M, Petazzi P, Sáez M, Szczesna K, Huertas D, Esteller M, Ausió J. Martínez de Paz A, et al. Among authors: huertas d. PLoS One. 2015 Apr 13;10(4):e0123693. doi: 10.1371/journal.pone.0123693. eCollection 2015. PLoS One. 2015. PMID: 25875630 Free PMC article.
Mutations in JMJD1C are involved in Rett syndrome and intellectual disability.
Sáez MA, Fernández-Rodríguez J, Moutinho C, Sanchez-Mut JV, Gomez A, Vidal E, Petazzi P, Szczesna K, Lopez-Serra P, Lucariello M, Lorden P, Delgado-Morales R, de la Caridad OJ, Huertas D, Gelpí JL, Orozco M, López-Doriga A, Milà M, Perez-Jurado LA, Pineda M, Armstrong J, Lázaro C, Esteller M. Sáez MA, et al. Among authors: huertas d. Genet Med. 2016 Apr;18(4):378-85. doi: 10.1038/gim.2015.100. Epub 2015 Jul 16. Genet Med. 2016. PMID: 26181491 Free PMC article.
Inhibition of Gsk3b Reduces Nfkb1 Signaling and Rescues Synaptic Activity to Improve the Rett Syndrome Phenotype in Mecp2-Knockout Mice.
Jorge-Torres OC, Szczesna K, Roa L, Casal C, Gonzalez-Somermeyer L, Soler M, Velasco CD, Martínez-San Segundo P, Petazzi P, Sáez MA, Delgado-Morales R, Fourcade S, Pujol A, Huertas D, Llobet A, Guil S, Esteller M. Jorge-Torres OC, et al. Among authors: huertas d. Cell Rep. 2018 May 8;23(6):1665-1677. doi: 10.1016/j.celrep.2018.04.010. Cell Rep. 2018. PMID: 29742424 Free article.
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