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Items: 6

1.
Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery
Raman Kumar, Alison Gardner, Claire C Homan, Evelyn Douglas, Heather Mefford, Dagmar Wieczorek, Hermann-Josef Lüdecke, Zornitza Stark, Simon Sadedin, The Broad CMG, Catherine Bearce Nowak, Jessica Douglas, Gretchen Parsons, Paul Mark, Lourdes Loidi, Gail E Herman, Theresa Mihalic Mosher, Meredith K Gillespie, Lauren Brady, Mark Tarnopolsky, Irene Madrigal, Jesús Eiris, Laura Domènech Salgado, Raquel Rabionet, Tim M Strom, Naoko Ishihara, Hidehito Inagaki, Hiroki Kurahashi, Tracy Dudding-Byth, Elizabeth E Palmer, Michael Field, Jozef Gecz
Hum Mutat. Author manuscript; available in PMC 2019 Aug 1.
Published in final edited form as: Hum Mutat. 2018 Aug; 39(8): 1126–1138. Published online 2018 Jun 14. doi: 10.1002/humu.23557
PMCID:
PMC6481655
AbstractArticlePDF–1.3M
2.
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability
Raman Kumar, Mark A. Corbett, Bregje W.M. van Bon, Joshua A. Woenig, Lloyd Weir, Evelyn Douglas, Kathryn L. Friend, Alison Gardner, Marie Shaw, Lachlan A. Jolly, Chuan Tan, Matthew F. Hunter, Anna Hackett, Michael Field, Elizabeth E. Palmer, Melanie Leffler, Carolyn Rogers, Jackie Boyle, Melanie Bienek, Corinna Jensen, Griet Van Buggenhout, Hilde Van Esch, Katrin Hoffmann, Martine Raynaud, Huiying Zhao, Robin Reed, Hao Hu, Stefan A. Haas, Eric Haan, Vera M. Kalscheuer, Jozef Gecz
Am J Hum Genet. 2015 Aug 6; 97(2): 302–310. doi: 10.1016/j.ajhg.2015.05.021
PMCID:
PMC4573269
AbstractArticlePDF–1.4M
3.
The Proteins PDIP3 and ZC11A Associate with the Human TREX Complex in an ATP-Dependent Manner and Function in mRNA Export
Eric G. Folco, Chung-Sheng Lee, Kobina Dufu, Tomohiro Yamazaki, Robin Reed
PLoS One. 2012; 7(8): e43804. Published online 2012 Aug 23. doi: 10.1371/journal.pone.0043804
PMCID:
PMC3426524
AbstractArticlePDF–1.6M
4.
Recruitment of the Complete hTREX Complex Is Required for Kaposi's Sarcoma–Associated Herpesvirus Intronless mRNA Nuclear Export and Virus Replication
James R. Boyne, Kevin J. Colgan, Adrian Whitehouse
PLoS Pathog. 2008 Oct; 4(10): e1000194. Published online 2008 Oct 31. doi: 10.1371/journal.ppat.1000194
PMCID:
PMC2569588
AbstractArticlePDF–838K
5.
Localisation of a new gene for non-specific mental retardation to Xq22-q26 (MRX35).
X X Gu, R Decorte, P Marynen, J P Fryns, J J Cassiman, P Raeymaekers
J Med Genet. 1996 Jan; 33(1): 52–55. doi: 10.1136/jmg.33.1.52
PMCID:
PMC1051812
SummaryPage BrowsePDF–718K
6.
Large-scale characterization of HeLa cell nuclear phosphoproteins
Sean A. Beausoleil, Mark Jedrychowski, Daniel Schwartz, Joshua E. Elias, Judit Villén, Jiaxu Li, Martin A. Cohn, Lewis C. Cantley, Steven P. Gygi
Proc Natl Acad Sci U S A. 2004 Aug 17; 101(33): 12130–12135. Published online 2004 Aug 9. doi: 10.1073/pnas.0404720101
PMCID:
PMC514446
AbstractArticlePDF–475K

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