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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. 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.
Differentially Expressed Genes and Signaling Pathways Potentially Involved in Primary Resistance to Chemo-Immunotherapy in Advanced-Stage Gastric Cancer Patients.
Pinto MP, Muñoz-Medel M, Retamal IN, Bravo M, Latapiat V, Córdova-Delgado M, Hill CN, Fernández MF, Sánchez C, Sáez MA, Martin AJM, Morales-Pison S, Fernandez-Ramires R, García-Bloj B, Owen GI, Garrido M. Pinto MP, et al. Among authors: saez ma. Int J Mol Sci. 2022 Dec 20;24(1):1. doi: 10.3390/ijms24010001. Int J Mol Sci. 2022. PMID: 36613445 Free PMC article.
Transcriptional and Histone Acetylation Changes Associated with CRE Elements Expose Key Factors Governing the Regulatory Circuit in the Early Stage of Huntington's Disease Models.
Arancibia-Opazo S, Contreras-Riquelme JS, Sánchez M, Cisternas-Olmedo M, Vidal RL, Martin AJM, Sáez MA. Arancibia-Opazo S, et al. Among authors: saez ma. Int J Mol Sci. 2023 Jun 29;24(13):10848. doi: 10.3390/ijms241310848. Int J Mol Sci. 2023. PMID: 37446028 Free PMC article.
Improvement of the Rett syndrome phenotype in a MeCP2 mouse model upon treatment with levodopa and a dopa-decarboxylase inhibitor.
Szczesna K, de la Caridad O, Petazzi P, Soler M, Roa L, Saez MA, Fourcade S, Pujol A, Artuch-Iriberri R, Molero-Luis M, Vidal A, Huertas D, Esteller M. Szczesna K, et al. Among authors: saez ma. Neuropsychopharmacology. 2014 Nov;39(12):2846-56. doi: 10.1038/npp.2014.136. Epub 2014 Jun 11. Neuropsychopharmacology. 2014. PMID: 24917201 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: saez ma. Cell Rep. 2018 May 8;23(6):1665-1677. doi: 10.1016/j.celrep.2018.04.010. Cell Rep. 2018. PMID: 29742424 Free article.