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A highly conserved program of neuronal microexons is misregulated in autistic brains.
Irimia M, Weatheritt RJ, Ellis JD, Parikshak NN, Gonatopoulos-Pournatzis T, Babor M, Quesnel-Vallières M, Tapial J, Raj B, O'Hanlon D, Barrios-Rodiles M, Sternberg MJ, Cordes SP, Roth FP, Wrana JL, Geschwind DH, Blencowe BJ. Irimia M, et al. Cell. 2014 Dec 18;159(7):1511-23. doi: 10.1016/j.cell.2014.11.035. Cell. 2014. PMID: 25525873 Free PMC article.
An atlas of alternative splicing profiles and functional associations reveals new regulatory programs and genes that simultaneously express multiple major isoforms.
Tapial J, Ha KCH, Sterne-Weiler T, Gohr A, Braunschweig U, Hermoso-Pulido A, Quesnel-Vallières M, Permanyer J, Sodaei R, Marquez Y, Cozzuto L, Wang X, Gómez-Velázquez M, Rayon T, Manzanares M, Ponomarenko J, Blencowe BJ, Irimia M. Tapial J, et al. Genome Res. 2017 Oct;27(10):1759-1768. doi: 10.1101/gr.220962.117. Epub 2017 Aug 30. Genome Res. 2017. PMID: 28855263 Free PMC article.
Autism-Misregulated eIF4G Microexons Control Synaptic Translation and Higher Order Cognitive Functions.
Gonatopoulos-Pournatzis T, Niibori R, Salter EW, Weatheritt RJ, Tsang B, Farhangmehr S, Liang X, Braunschweig U, Roth J, Zhang S, Henderson T, Sharma E, Quesnel-Vallières M, Permanyer J, Maier S, Georgiou J, Irimia M, Sonenberg N, Forman-Kay JD, Gingras AC, Collingridge GL, Woodin MA, Cordes SP, Blencowe BJ. Gonatopoulos-Pournatzis T, et al. Mol Cell. 2020 Mar 19;77(6):1176-1192.e16. doi: 10.1016/j.molcel.2020.01.006. Epub 2020 Jan 29. Mol Cell. 2020. PMID: 31999954 Free article.
Rapid and Scalable Profiling of Nascent RNA with fastGRO.
Barbieri E, Hill C, Quesnel-Vallières M, Zucco AJ, Barash Y, Gardini A. Barbieri E, et al. Cell Rep. 2020 Nov 10;33(6):108373. doi: 10.1016/j.celrep.2020.108373. Cell Rep. 2020. PMID: 33176136 Free PMC article.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment.
Fiordaliso SK, Iwata-Otsubo A, Ritter AL, Quesnel-Vallières M, Fujiki K, Nishi E, Hancarova M, Miyake N, Morton JEV, Lee S, Hackmann K, Bando M, Masuda K, Nakato R, Arakawa M, Bhoj E, Li D, Hakonarson H, Takeda R, Harr M, Keena B, Zackai EH, Okamoto N, Mizuno S, Ko JM, Valachova A, Prchalova D, Vlckova M, Pippucci T, Seiler C, Choi M, Matsumoto N, Di Donato N, Barash Y, Sedlacek Z, Shirahige K, Izumi K. Fiordaliso SK, et al. Am J Hum Genet. 2019 Nov 7;105(5):987-995. doi: 10.1016/j.ajhg.2019.09.009. Epub 2019 Oct 3. Am J Hum Genet. 2019. PMID: 31587868 Free PMC article.
21 results