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Items: 7

1.
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Sarah K. Fiordaliso, Aiko Iwata-Otsubo, Alyssa L. Ritter, Mathieu Quesnel-Vallières, Katsunori Fujiki, Eriko Nishi, Miroslava Hancarova, Noriko Miyake, Jenny E.V. Morton, Sangmoon Lee, Karl Hackmann, Masashige Bando, Koji Masuda, Ryuichiro Nakato, Michiko Arakawa, Elizabeth Bhoj, Dong Li, Hakon Hakonarson, Ryojun Takeda, Margaret Harr, Beth Keena, Elaine H. Zackai, Nobuhiko Okamoto, Seiji Mizuno, Jung Min Ko, Alica Valachova, Darina Prchalova, Marketa Vlckova, Tommaso Pippucci, Christoph Seiler, Murim Choi, Naomichi Matsumoto, Nataliya Di Donato, Yoseph Barash, Zdenek Sedlacek, Katsuhiko Shirahige, Kosuke Izumi
Am J Hum Genet. 2019 Nov 7; 105(5): 987–995. Published online 2019 Oct 3. doi: 10.1016/j.ajhg.2019.09.009
PMCID:
PMC6848994
AbstractArticlePDF–1.9M
2.
High-content genome-wide RNAi screens identify regulators of parkin upstream of mitophagy
Samuel A. Hasson, Lesley A. Kane, Koji Yamano, Chiu-Hui Huang, Danielle A. Sliter, Eugen Buehler, Chunxin Wang, Sabrina M. Heman-Ackah, Tara Hessa, Rajarshi Guha, Scott E. Martin, Richard J. Youle
Nature. Author manuscript; available in PMC 2018 Mar 7.
Published in final edited form as: Nature. 2013 Dec 12; 504(7479): 291–295. Published online 2013 Nov 24. doi: 10.1038/nature12748
PMCID:
PMC5841086
AbstractArticlePDF–5.3M
3.
Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium
Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas
Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042
PMCID:
PMC3178059
AbstractArticlePDF–1.0M
4.
Adult hematopoietic stem cells require NKAP for maintenance and survival
Anthony G. Pajerowski, Michael J. Shapiro, Kimberly Gwin, Rhianna Sundsbak, Molly Nelson-Holte, Kay Medina, Virginia Smith Shapiro
Blood. 2010 Oct 14; 116(15): 2684–2693. Prepublished online 2010 Jul 7. doi: 10.1182/blood-2010-02-268391
PMCID:
PMC2974581
AbstractArticle
5.
NKAP, a novel modulator of Notch signaling, is required for T cell development
Anthony G. Pajerowski, Chau Nguyen, Haig Aghajanian, Michael J. Shapiro, Virginia Smith Shapiro
Immunity. Author manuscript; available in PMC 2010 May 1.
Published in final edited form as: Immunity. 2009 May; 30(5): 696–707. Published online 2009 Apr 30. doi: 10.1016/j.immuni.2009.02.011
PMCID:
PMC2777751
AbstractArticlePDF–2.2M
6.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K
7.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K

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