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Items: 1 to 20 of 31

1.
Severe Bleeding with Subclinical Oculocutaneous Albinism in a Patient with a Novel HPS6 Missense Variant
Chen G. Han, Kevin J. O’Brien, Lea M. Coon, Julie A. Majerus, Laryssa A. Huryn, Sara G. Haroutunian, Nagabhishek Moka, Wendy J. Introne, Ellen Macnamara, William A. Gahl, May Christine V. Malicdan, Dong Chen, Koyamangalath Krishnan, Bernadette R. Gochuico
Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 1.
Published in final edited form as: Am J Med Genet A. 2018 Dec; 176(12): 2819–2823. Published online 2018 Oct 4. doi: 10.1002/ajmg.a.40514
PMCID:
PMC6312461
AbstractArticlePDF–413K
2.
Identification of a Novel Mutation in HPS6 in a Patient with Hemophilia B and Oculocutaneous Albinism
Kevin J. O’Brien, Jay Lozier, Andrew R. Cullinane, Brigitte Osorio, Khanh Nghiem, Vladislav Speransky, Wadih M. Zein, James C. Mullikin, Anne T. Neff, Karen L. Simon, May Christine V. Malicdan, William A. Gahl, Lisa R. Young, Bernadette R. Gochuico
Mol Genet Metab. Author manuscript; available in PMC 2017 Nov 1.
Published in final edited form as: Mol Genet Metab. 2016 Nov; 119(3): 284–287. Published online 2016 Sep 3. doi: 10.1016/j.ymgme.2016.08.009
PMCID:
PMC5083180
AbstractArticlePDF–212K
3.
Clinical and cellular characterization of Hermansky-Pudlak syndrome type-6
Marjan Huizing, Ben Pederson, Richard A Hess, Ashley Griffin, Amanda Helip-Wooley, Wendy Westbroek, Heidi Dorward, Kevin J O’Brien, Gretchen Golas, Ekaterini Tsilou, James G White, William A Gahl
J Med Genet. Author manuscript; available in PMC 2012 Nov 19.
Published in final edited form as: J Med Genet. 2009 Dec; 46(12): 803–810. Published online 2009 Oct 20. doi: 10.1136/jmg.2008.065961
PMCID:
PMC3500784
AbstractArticlePDF–4.2M
4.
Targeting protein-trafficking pathways alters melanoma treatment sensitivity
Zhi-ming Huang, Milka Chinen, Philip J. Chang, Tong Xie, Lily Zhong, Stephanie Demetriou, Mira P. Patel, Rebecca Scherzer, Elena V. Sviderskaya, Dorothy C. Bennett, Glenn L. Millhauser, Dennis H. Oh, James E. Cleaver, Maria L. Wei
Proc Natl Acad Sci U S A. 2012 Jan 10; 109(2): 553–558. Published online 2011 Dec 27. doi: 10.1073/pnas.1118366109
PMCID:
PMC3258646
AbstractArticlePDF–594K
5.
BLOC-2, AP-3, and AP-1 Proteins Function in Concert with Rab38 and Rab32 Proteins to Mediate Protein Trafficking to Lysosome-related Organelles
Jarred J. Bultema, Andrea L. Ambrosio, Carolyn L. Burek, Santiago M. Di Pietro
J Biol Chem. 2012 Jun 1; 287(23): 19550–19563. Published online 2012 Apr 16. doi: 10.1074/jbc.M112.351908
PMCID:
PMC3365991
AbstractArticlePDF–4.2M
6.
Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous lysosome biogenesis machinery to synthesize specialized lysosome-related organelles
Jarred J. Bultema, Santiago M. Di Pietro
Small GTPases. 2013 Jan 1; 4(1): 16–21. doi: 10.4161/sgtp.22349
PMCID:
PMC3620096
AbstractArticlePDF–1.0M
7.
La-related Protein 1 (LARP1) Represses Terminal Oligopyrimidine (TOP) mRNA Translation Downstream of mTOR Complex 1 (mTORC1)
Bruno D. Fonseca, Chadi Zakaria, Jian-Jun Jia, Tyson E. Graber, Yuri Svitkin, Soroush Tahmasebi, Danielle Healy, Huy-Dung Hoang, Jacob M. Jensen, Ilo T. Diao, Alexandre Lussier, Christopher Dajadian, Niranjan Padmanabhan, Walter Wang, Edna Matta-Camacho, Jaclyn Hearnden, Ewan M. Smith, Yoshinori Tsukumo, Akiko Yanagiya, Masahiro Morita, Emmanuel Petroulakis, Jose L. González, Greco Hernández, Tommy Alain, Christian K. Damgaard
J Biol Chem. 2015 Jun 26; 290(26): 15996–16020. Published online 2015 May 4. doi: 10.1074/jbc.M114.621730
PMCID:
PMC4481205
AbstractArticlePDF–5.8M
8.
HIV–host interactome revealed directly from infected cells
Yang Luo, Erica Y. Jacobs, Todd M. Greco, Kevin D. Mohammed, Tommy Tong, Sarah Keegan, James M. Binley, Ileana M. Cristea, David Fenyö, Michael P. Rout, Brian T. Chait, Mark A. Muesing
Nat Microbiol. Author manuscript; available in PMC 2016 Jul 1.
Published in final edited form as: Nat Microbiol. 2016 Jul; 1(7): 16068. Published online 2016 May 23. doi: 10.1038/nmicrobiol.2016.68
PMCID:
PMC4928716
AbstractArticlePDF–1.1M
9.
Histone methyltransferase DOT1L coordinates AR and MYC stability in prostate cancer
R. Vatapalli, V. Sagar, Y. Rodriguez, J. C. Zhao, K. Unno, S. Pamarthy, B. Lysy, J. Anker, H. Han, Y. A. Yoo, M. Truica, Z. R. Chalmers, F. Giles, J. Yu, D. Chakravarti, B. Carneiro, S. A. Abdulkadir
Nat Commun. 2020; 11: 4153. Published online 2020 Aug 19. doi: 10.1038/s41467-020-18013-7
PMCID:
PMC7438336
AbstractArticlePDF–2.4M
10.
A Scan of Chromosome 10 Identifies a Novel Locus Showing Strong Association with Late-Onset Alzheimer Disease
Andrew Grupe, Yonghong Li, Charles Rowland, Petra Nowotny, Anthony L. Hinrichs, Scott Smemo, John S. K. Kauwe, Taylor J. Maxwell, Sara Cherny, Lisa Doil, Kristina Tacey, Ryan van Luchene, Amanda Myers, Fabienne Wavrant-De Vrièze, Mona Kaleem, Paul Hollingworth, Luke Jehu, Catherine Foy, Nicola Archer, Gillian Hamilton, Peter Holmans, Chris M. Morris, Joseph Catanese, John Sninsky, Thomas J. White, John Powell, John Hardy, Michael O’Donovan, Simon Lovestone, Lesley Jones, John C. Morris, Leon Thal, Michael Owen, Julie Williams, Alison Goate
Am J Hum Genet. 2006 Jan; 78(1): 78–88. Published online 2005 Nov 15. doi: 10.1086/498851
PMCID:
PMC1380225
AbstractArticlePDF–329K
11.
BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A
Chun‐guo Mao, Sha‐sha Jiang, Cheng Shen, Tan Long, Hua Jin, Qun‐You Tan, Bo Deng
Thorac Cancer. 2020 Nov; 11(11): 3326–3336. Published online 2020 Oct 1. doi: 10.1111/1759-7714.13676
PMCID:
PMC7606008
AbstractArticlePDF–2.5M
12.
CLEC16A interacts with retromer and TRIM27, and its loss impairs endosomal trafficking and neurodevelopment
Daphne J. Smits, Jordy Dekker, Rachel Schot, Brahim Tabarki, Amal Alhashem, Jeroen A. A. Demmers, Dick H. W. Dekkers, Antonio Romito, Peter J. van der Spek, Tjakko J. van Ham, Aida M. Bertoli-Avella, Grazia M. S. Mancini
Hum Genet. 2023; 142(3): 379–397. Published online 2022 Dec 20. doi: 10.1007/s00439-022-02511-3
PMCID:
PMC9950183
AbstractArticlePDF–2.4M
13.
HSF1 phosphorylation establishes an active chromatin state via the TRRAP–TIP60 complex and promotes tumorigenesis
Mitsuaki Fujimoto, Ryosuke Takii, Masaki Matsumoto, Mariko Okada, Keiich I. Nakayama, Ryuichiro Nakato, Katsunori Fujiki, Katsuhiko Shirahige, Akira Nakai
Nat Commun. 2022; 13: 4355. Published online 2022 Jul 29. doi: 10.1038/s41467-022-32034-4
PMCID:
PMC9338313
AbstractArticlePDF–2.8M
14.
K48- and K63-linked ubiquitin chain interactome reveals branch- and length-specific ubiquitin interactors
Anita Waltho, Oliver Popp, Christopher Lenz, Lukas Pluska, Mahil Lambert, Volker Dötsch, Philipp Mertins, Thomas Sommer
Life Sci Alliance. 2024 Aug; 7(8): e202402740. Published online 2024 May 21. doi: 10.26508/lsa.202402740
PMCID:
PMC11109483
AbstractArticlePDF–2.9M
15.
A dual-activity topoisomerase complex regulates mRNA translation and turnover
Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang
Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538
PMCID:
PMC9262614
AbstractArticlePDF–3.6M
16.
The involvement of Parkin-dependent mitophagy in the anti-cancer activity of Ginsenoside
Xin Sun, Yeting Hong, Yuhan Shu, Caixia Wu, Guiqin Ye, Hanxiao Chen, Hongying Zhou, Ruilan Gao, Jianbin Zhang
J Ginseng Res. 2022 Mar; 46(2): 266–274. Published online 2021 Jul 8. doi: 10.1016/j.jgr.2021.06.009
PMCID:
PMC9058836
AbstractArticlePDF–2.9M
17.
Substrate-Trapped Interactors of PHD3 and FIH Cluster in Distinct Signaling Pathways
Javier Rodriguez, Ruth Pilkington, Amaya Garcia Munoz, Lan K. Nguyen, Nora Rauch, Susan Kennedy, Naser Monsefi, Ana Herrero, Cormac T. Taylor, Alex von Kriegsheim
Cell Rep. 2016 Mar 22; 14(11): 2745–2760. Published online 2016 Mar 10. doi: 10.1016/j.celrep.2016.02.043
PMCID:
PMC4805855
AbstractArticlePDF–4.6M
18.
Quantitative mapping of RNA-mediated nuclear estrogen receptor β interactome in human breast cancer cells
Giorgio Giurato, Giovanni Nassa, Annamaria Salvati, Elena Alexandrova, Francesca Rizzo, Tuula A. Nyman, Alessandro Weisz, Roberta Tarallo
Sci Data. 2018; 5: 180031. Published online 2018 Mar 6. doi: 10.1038/sdata.2018.31
PMCID:
PMC5839158
AbstractArticlePDF–1.9M
19.
Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases
Marija Buljan, Rodolfo Ciuffa, Audrey van Drogen, Anton Vichalkovski, Martin Mehnert, George Rosenberger, Sohyon Lee, Markku Varjosalo, Lucia Espona Pernas, Vincent Spegg, Berend Snijder, Ruedi Aebersold, Matthias Gstaiger
Mol Cell. 2020 Aug 6; 79(3): 504–520.e9. doi: 10.1016/j.molcel.2020.07.001
PMCID:
PMC7427327
AbstractArticle
20.
A deep proteomics perspective on CRM1-mediated nuclear export and nucleocytoplasmic partitioning
Koray Kırlı, Samir Karaca, Heinz Jürgen Dehne, Matthias Samwer, Kuan Ting Pan, Christof Lenz, Henning Urlaub, Dirk Görlich
eLife. 2015; 4: e11466. Published online 2015 Dec 17. doi: 10.7554/eLife.11466
PMCID:
PMC4764573
AbstractArticlePDF–5.7M

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