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De Novo Heterozygous POLR2A Variants Cause a Neurodevelopmental Syndrome with Profound Infantile-Onset Hypotonia.
Haijes HA, Koster MJE, Rehmann H, Li D, Hakonarson H, Cappuccio G, Hancarova M, Lehalle D, Reardon W, Schaefer GB, Lehman A, van de Laar IMBH, Tesselaar CD, Turner C, Goldenberg A, Patrier S, Thevenon J, Pinelli M, Brunetti-Pierri N, Prchalová D, Havlovicová M, Vlckova M, Sedláček Z, Lopez E, Ragoussis V, Pagnamenta AT, Kini U, Vos HR, van Es RM, van Schaik RFMA, van Essen TAJ, Kibaek M, Taylor JC, Sullivan J, Shashi V, Petrovski S, Fagerberg C, Martin DM, van Gassen KLI, Pfundt R, Falk MJ, McCormick EM, Timmers HTM, van Hasselt PM. Haijes HA, et al. Among authors: timmers htm. Am J Hum Genet. 2019 Aug 1;105(2):283-301. doi: 10.1016/j.ajhg.2019.06.016. Epub 2019 Jul 25. Am J Hum Genet. 2019. PMID: 31353023 Free PMC article.
SAGA Is a General Cofactor for RNA Polymerase II Transcription.
Baptista T, Grünberg S, Minoungou N, Koster MJE, Timmers HTM, Hahn S, Devys D, Tora L. Baptista T, et al. Among authors: timmers htm. Mol Cell. 2017 Oct 5;68(1):130-143.e5. doi: 10.1016/j.molcel.2017.08.016. Epub 2017 Sep 14. Mol Cell. 2017. PMID: 28918903 Free PMC article.
Chaperonin CCT checkpoint function in basal transcription factor TFIID assembly.
Antonova SV, Haffke M, Corradini E, Mikuciunas M, Low TY, Signor L, van Es RM, Gupta K, Scheer E, Vos HR, Tora L, Heck AJR, Timmers HTM, Berger I. Antonova SV, et al. Among authors: timmers htm. Nat Struct Mol Biol. 2018 Dec;25(12):1119-1127. doi: 10.1038/s41594-018-0156-z. Epub 2018 Dec 3. Nat Struct Mol Biol. 2018. PMID: 30510221 Free PMC article.
Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Cheng H, Capponi S, Wakeling E, Marchi E, Li Q, Zhao M, Weng C, Stefan PG, Ahlfors H, Kleyner R, Rope A, Lumaka A, Lukusa P, Devriendt K, Vermeesch J, Posey JE, Palmer EE, Murray L, Leon E, Diaz J, Worgan L, Mallawaarachchi A, Vogt J, de Munnik SA, Dreyer L, Baynam G, Ewans L, Stark Z, Lunke S, Gonçalves AR, Soares G, Oliveira J, Fassi E, Willing M, Waugh JL, Faivre L, Riviere JB, Moutton S, Mohammed S, Payne K, Walsh L, Begtrup A, Guillen Sacoto MJ, Douglas G, Alexander N, Buckley MF, Mark PR, Adès LC, Sandaradura SA, Lupski JR, Roscioli T, Agrawal PB, Kline AD; Deciphering Developmental Disorders Study; Wang K, Timmers HTM, Lyon GJ. Cheng H, et al. Among authors: timmers htm. Hum Mutat. 2019 Oct 23:10.1002/humu.23936. doi: 10.1002/humu.23936. Online ahead of print. Hum Mutat. 2019. PMID: 31646703 Free PMC article.
SAGA Is a General Cofactor for RNA Polymerase II Transcription.
Baptista T, Grünberg S, Minoungou N, Koster MJE, Timmers HTM, Hahn S, Devys D, Tora L. Baptista T, et al. Among authors: timmers htm. Mol Cell. 2018 Jun 21;70(6):1163-1164. doi: 10.1016/j.molcel.2018.06.007. Mol Cell. 2018. PMID: 29932906 Free article. No abstract available.
A central role for TFIID in the pluripotent transcription circuitry.
Pijnappel WW, Esch D, Baltissen MP, Wu G, Mischerikow N, Bergsma AJ, van der Wal E, Han DW, Bruch Hv, Moritz S, Lijnzaad P, Altelaar AF, Sameith K, Zaehres H, Heck AJ, Holstege FC, Schöler HR, Timmers HT. Pijnappel WW, et al. Nature. 2013 Mar 28;495(7442):516-9. doi: 10.1038/nature11970. Epub 2013 Mar 17. Nature. 2013. PMID: 23503660
Co-translational assembly of mammalian nuclear multisubunit complexes.
Kamenova I, Mukherjee P, Conic S, Mueller F, El-Saafin F, Bardot P, Garnier JM, Dembele D, Capponi S, Timmers HTM, Vincent SD, Tora L. Kamenova I, et al. Among authors: timmers htm. Nat Commun. 2019 Apr 15;10(1):1740. doi: 10.1038/s41467-019-09749-y. Nat Commun. 2019. PMID: 30988355 Free PMC article.
104 results