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Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients.
Tenorio J, Alarcón P, Arias P, Dapía I, García-Miñaur S, Palomares Bralo M, Campistol J, Climent S, Valenzuela I, Ramos S, Monseny AM, Grondona FL, Botet J, Serrano M, Solís M, Santos-Simarro F, Álvarez S, Teixidó-Tura G, Fernández Jaén A, Gordo G, Bardón Rivera MB, Nevado J, Hernández A, Cigudosa JC, Ruiz-Pérez VL, Tizzano EF; SOGRI Consortium; Lapunzina P. Tenorio J, et al. Among authors: botet j. Eur J Hum Genet. 2020 Apr;28(4):469-479. doi: 10.1038/s41431-019-0485-3. Epub 2019 Nov 4. Eur J Hum Genet. 2020. PMID: 31685998 Free PMC article.
Exonic variants of genes related to the vitamin D signaling pathway in the families of familial multiple sclerosis using whole-exome next generation sequencing.
Pytel V, Matías-Guiu JA, Torre-Fuentes L, Montero-Escribano P, Maietta P, Botet J, Álvarez S, Gómez-Pinedo U, Matías-Guiu J. Pytel V, et al. Among authors: botet j. Brain Behav. 2019 Apr;9(4):e01272. doi: 10.1002/brb3.1272. Epub 2019 Mar 21. Brain Behav. 2019. PMID: 30900415 Free PMC article.
Genome-wide analysis of factors affecting transcription elongation and DNA repair: a new role for PAF and Ccr4-not in transcription-coupled repair.
Gaillard H, Tous C, Botet J, González-Aguilera C, Quintero MJ, Viladevall L, García-Rubio ML, Rodríguez-Gil A, Marín A, Ariño J, Revuelta JL, Chávez S, Aguilera A. Gaillard H, et al. Among authors: botet j. PLoS Genet. 2009 Feb;5(2):e1000364. doi: 10.1371/journal.pgen.1000364. Epub 2009 Feb 6. PLoS Genet. 2009. PMID: 19197357 Free PMC article.
Drug uptake, lipid rafts, and vesicle trafficking modulate resistance to an anticancer lysophosphatidylcholine analogue in yeast.
Cuesta-Marbán Á, Botet J, Czyz O, Cacharro LM, Gajate C, Hornillos V, Delgado J, Zhang H, Amat-Guerri F, Acuña AU, McMaster CR, Revuelta JL, Zaremberg V, Mollinedo F. Cuesta-Marbán Á, et al. Among authors: botet j. J Biol Chem. 2013 Mar 22;288(12):8405-8418. doi: 10.1074/jbc.M112.425769. Epub 2013 Jan 18. J Biol Chem. 2013. PMID: 23335509 Free PMC article.
Mitochondria and lipid raft-located FOF1-ATP synthase as major therapeutic targets in the antileishmanial and anticancer activities of ether lipid edelfosine.
Villa-Pulgarín JA, Gajate C, Botet J, Jimenez A, Justies N, Varela-M RE, Cuesta-Marbán Á, Müller I, Modolell M, Revuelta JL, Mollinedo F. Villa-Pulgarín JA, et al. Among authors: botet j. PLoS Negl Trop Dis. 2017 Aug 22;11(8):e0005805. doi: 10.1371/journal.pntd.0005805. eCollection 2017 Aug. PLoS Negl Trop Dis. 2017. PMID: 28829771 Free PMC article.
67 results