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Items: 1 to 20 of 37

1.
Silencing GMPPB Inhibits the Proliferation and Invasion of GBM via Hippo/MMP3 Pathways
Zi-Lu Huang, Aalaa Sanad Abdallah, Guang-Xin Shen, Milagros Suarez, Ping Feng, Yan-Jiao Yu, Ying Wang, Shuo-Han Zheng, Yu-Jun Hu, Xiang Xiao, Ya Liu, Song-Ran Liu, Zhong-Ping Chen, Xiao-Nan Li, Yun-Fei Xia
Int J Mol Sci. 2023 Oct; 24(19): 14707. Published online 2023 Sep 28. doi: 10.3390/ijms241914707
PMCID:
PMC10572784
ArticlePDF–2.4M
2.
Limb-girdle muscular dystrophy due to GMPPB mutations: A case report and comprehensive literature review
LiuQing Sun, DingGuo Shen, Ting Xiong, Zhibin Zhou, Xianghui Lu, Fang Cui
Bosn J Basic Med Sci. 2020 May; 20(2): 275–280. doi: 10.17305/bjbms.2019.3992
PMCID:
PMC7202191
ArticlePDF–630K
3.
Clinical features of the myasthenic syndrome arising from mutations in GMPPB
Pedro M Rodríguez Cruz, Katsiaryna Belaya, Keivan Basiri, Maryam Sedghi, Maria Elena Farrugia, Janice L Holton, Wei Wei Liu, Susan Maxwell, Richard Petty, Timothy J Walls, Robin Kennett, Matthew Pitt, Anna Sarkozy, Matt Parton, Hanns Lochmüller, Francesco Muntoni, Jacqueline Palace, David Beeson
J Neurol Neurosurg Psychiatry. Author manuscript; available in PMC 2018 Jul 16.
Published in final edited form as: J Neurol Neurosurg Psychiatry. 2016 Aug; 87(8): 802–809. Published online 2016 May 4. doi: 10.1136/jnnp-2016-313163
PMCID:
PMC6047737
ArticlePDF–1.9M
4.
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies
Katsiaryna Belaya, Pedro M. Rodríguez Cruz, Wei Wei Liu, Susan Maxwell, Simon McGowan, Maria E. Farrugia, Richard Petty, Timothy J. Walls, Maryam Sedghi, Keivan Basiri, Wyatt W. Yue, Anna Sarkozy, Marta Bertoli, Matthew Pitt, Robin Kennett, Andrew Schaefer, Kate Bushby, Matt Parton, Hanns Lochmüller, Jacqueline Palace, Francesco Muntoni, David Beeson
Brain. 2015 Sep; 138(9): 2493–2504. Published online 2015 Jul 1. doi: 10.1093/brain/awv185
PMCID:
PMC4547052
ArticlePDF–788K
5.
Congenital Muscular Dystrophy and Generalized Epilepsy Caused by GMPPB Mutations
Alya R. Raphael, Julien Couthouis, Sarada Sakamuri, Carly Siskind, Hannes Vogel, John W. Day, Aaron D. Gitler
Brain Res. Author manuscript; available in PMC 2015 Aug 5.
Published in final edited form as: Brain Res. 2014 Aug 5; 0: 66–71. Published online 2014 Apr 26. doi: 10.1016/j.brainres.2014.04.028
PMCID:
PMC4108529
ArticlePDF–350K
6.
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation
Braden S. Jensen, Tobias Willer, Dimah N. Saade, Mary O. Cox, Tahseen Mozaffar, Mena Scavina, Vikki A. Stefans, Thomas L. Winder, Kevin P. Campbell, Steven A. Moore, Katherine D. Mathews
Hum Mutat. Author manuscript; available in PMC 2016 Dec 1.
Published in final edited form as: Hum Mutat. 2015 Dec; 36(12): 1159–1163. Published online 2015 Sep 23. doi: 10.1002/humu.22898
PMCID:
PMC4843780
ArticlePDF–786K
7.
Mutations in GDP-Mannose Pyrophosphorylase B Cause Congenital and Limb-Girdle Muscular Dystrophies Associated with Hypoglycosylation of α-Dystroglycan
Keren J. Carss, Elizabeth Stevens, A. Reghan Foley, Sebahattin Cirak, Moniek Riemersma, Silvia Torelli, Alexander Hoischen, Tobias Willer, Monique van Scherpenzeel, Steven A. Moore, Sonia Messina, Enrico Bertini, Carsten G. Bönnemann, Jose E. Abdenur, Carla M. Grosmann, Akanchha Kesari, Jaya Punetha, Ros Quinlivan, Leigh B. Waddell, Helen K. Young, Elizabeth Wraige, Shu Yau, Lina Brodd, Lucy Feng, Caroline Sewry, Daniel G. MacArthur, Kathryn N. North, Eric Hoffman, Derek L. Stemple, Matthew E. Hurles, Hans van Bokhoven, Kevin P. Campbell, Dirk J. Lefeber, UK10K Consortium, Yung-Yao Lin, Francesco Muntoni
Am J Hum Genet. 2013 Jul 11; 93(1): 29–41. doi: 10.1016/j.ajhg.2013.05.009
PMCID:
PMC3710768
ArticlePDF–1.7M
8.
Alivin 1, a Novel Neuronal Activity-Dependent Gene, Inhibits Apoptosis and Promotes Survival of Cerebellar Granule Neurons
Tomio Ono, Naoko Sekino-Suzuki, Yoshiaki Kikkawa, Hiromichi Yonekawa, Seiichi Kawashima
J Neurosci. 2003 Jul 2; 23(13): 5887–5896. doi: 10.1523/JNEUROSCI.23-13-05887.2003
PMCID:
PMC6741272
ArticlePDF–1.0M
9.
Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47
Carl A. Anderson, Gabrielle Boucher, Charlie W. Lees, Andre Franke, Mauro D’Amato, Kent D. Taylor, James C. Lee, Philippe Goyette, Marcin Imielinski, Anna Latiano, Caroline Lagacé, Regan Scott, Leila Amininejad, Suzannah Bumpstead, Leonard Baidoo, Robert N. Baldassano, Murray Barclay, Theodore M. Bayless, Stephan Brand, Carsten Büning, Jean-Frédéric Colombel, Lee A. Denson, Martine De Vos, Marla Dubinsky, Cathryn Edwards, David Ellinghaus, Rudolf S.N. Fehrmann, James A.B. Floyd, Tim Florin, Denis Franchimont, Lude Franke, Michel Georges, Jürgen Glas, Nicole L. Glazer, Stephen L. Guthery, Talin Haritunians, Nicholas K. Hayward, Jean-Pierre Hugot, Gilles Jobin, Debby Laukens, Ian Lawrance, Marc Lémann, Arie Levine, Cecile Libioulle, Edouard Louis, Dermot P. McGovern, Monica Milla, Grant W. Montgomery, Katherine I. Morley, Craig Mowat, Aylwin Ng, William Newman, Roel A Ophoff, Laura Papi, Orazio Palmieri, Laurent Peyrin-Biroulet, Julián Panés, Anne Phillips, Natalie J. Prescott, Deborah D. Proctor, Rebecca Roberts, Richard Russell, Paul Rutgeerts, Jeremy Sanderson, Miquel Sans, Philip Schumm, Frank Seibold, Yashoda Sharma, Lisa Simms, Mark Seielstad, A. Hillary Steinhart, Stephan R. Targan, Leonard H. van den Berg, Morten Vatn, Hein Verspaget, Thomas Walters, Cisca Wijmenga, David C. Wilson, Harm-Jan Westra, Ramnik J. Xavier, Zhen Z. Zhao, Cyriel Y. Ponsioen, Vibeke Andersen, Leif Torkvist, Maria Gazouli, Nicholas P. Anagnou, Tom H. Karlsen, Limas Kupcinskas, Jurgita Sventoraityte, John C. Mansfield, Subra Kugathasan, Mark S. Silverberg, Jonas Halfvarson, Jerome I. Rotter, Christopher G. Mathew, Anne M. Griffiths, Richard Gearry, Tariq Ahmad, Steven R. Brant, Mathias Chamaillard, Jack Satsangi, Judy H. Cho, Stefan Schreiber, Mark J. Daly, Jeffrey C. Barrett, Miles Parkes, Vito Annese, Hakon Hakonarson, Graham Radford-Smith, Richard H. Duerr, Séverine Vermeire, Rinse K. Weersma, John D. Rioux
Nat Genet. Author manuscript; available in PMC 2011 Sep 1.
Published in final edited form as: Nat Genet. 2011 Mar; 43(3): 246–252. Published online 2011 Feb 6. doi: 10.1038/ng.764
Correction in:
volume 43 on page 919
PMCID:
PMC3084597
ArticlePDF–404K
10.
The N6-methyladenosine-mediated lncRNA WEE2-AS1 promotes glioblastoma progression by stabilizing RPN2
Boyan Li, Rongrong Zhao, Wei Qiu, Ziwen Pan, Shulin Zhao, Yanhua Qi, Jiawei Qiu, Shouji Zhang, Qindong Guo, Yang Fan, Hao Xu, Ming Li, Gang Li, Hao Xue
Theranostics. 2022; 12(14): 6363–6379. Published online 2022 Aug 29. doi: 10.7150/thno.74600
PMCID:
PMC9475453
ArticlePDF–4.4M
11.
A genome-wide RNAi screen identifies multiple synthetic lethal interactions with the Ras oncogene
Ji Luo, Michael J. Emanuele, Danan Li, Chad J. Creighton, Michael R. Schlabach, Thomas F. Westbrook, Kwok-kin Wong, Stephen J. Elledge
Cell. Author manuscript; available in PMC 2009 Nov 29.
Published in final edited form as: Cell. 2009 May 29; 137(5): 835–848. doi: 10.1016/j.cell.2009.05.006
PMCID:
PMC2768667
ArticlePDF–4.0M
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
ArticlePDF–2.4M
13.
KAP1 facilitates reinstatement of heterochromatin after DNA replication
Suk Min Jang, Annamaria Kauzlaric, Jean-Pierre Quivy, Julien Pontis, Benjamin Rauwel, Andrea Coluccio, Sandra Offner, Julien Duc, Priscilla Turelli, Geneviève Almouzni, Didier Trono
Nucleic Acids Res. 2018 Sep 28; 46(17): 8788–8802. Published online 2018 Jun 28. doi: 10.1093/nar/gky580
PMCID:
PMC6158507
ArticlePDF–9.4M
14.
Genetic Variants in Nuclear-Encoded Mitochondrial Genes Influence AIDS Progression
Sher L. Hendrickson, James A. Lautenberger, Leslie Wei Chinn, Michael Malasky, Efe Sezgin, Lawrence A. Kingsley, James J. Goedert, Gregory D. Kirk, Edward D. Gomperts, Susan P. Buchbinder, Jennifer L. Troyer, Stephen J. O'Brien
PLoS One. 2010; 5(9): e12862. Published online 2010 Sep 21. doi: 10.1371/journal.pone.0012862
PMCID:
PMC2943476
ArticlePDF–461K
15.
Defining the Protein-Protein Interaction Network of the Human Protein Tyrosine Phosphatase Family
Xu Li, Kim My Tran, Kathryn E. Aziz, Alexey V. Sorokin, Junjie Chen, Wenqi Wang
Mol Cell Proteomics. 2016 Sep; 15(9): 3030–3044. Published online 2016 Jul 18. doi: 10.1074/mcp.M116.060277
PMCID:
PMC5013315
ArticlePDF–3.2M
16.
The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment
Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski
Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003
Correction in:
Genome Res. 2003 Dec; 13(12): 2759.
PMCID:
PMC403697
ArticlePDF–120K
17.
Genetic and Proteomic Interrogation of Lower Confidence Candidate Genes Reveals Signaling Networks in β-Catenin-Active Cancers
Joseph Rosenbluh, Johnathan Mercer, Yashaswi Shrestha, Rachel Oliver, Pablo Tamayo, John G. Doench, Itay Tirosh, Federica Piccioni, Ella Hartenian, Heiko Horn, Lola Fagbami, David E. Root, Jacob Jaffe, Kasper Lage, Jesse S. Boehm, William C. Hahn
Cell Syst. Author manuscript; available in PMC 2017 Sep 28.
Published in final edited form as: Cell Syst. 2016 Sep 28; 3(3): 302–316.e4. doi: 10.1016/j.cels.2016.09.001
PMCID:
PMC5455996
ArticlePDF–3.1M
18.
Proteomic profiling of VCP substrates links VCP to K6‐linked ubiquitylation and c‐Myc function
Jan B Heidelberger, Andrea Voigt, Marina E Borisova, Giuseppe Petrosino, Stefanie Ruf, Sebastian A Wagner, Petra Beli
EMBO Rep. 2018 Apr; 19(4): e44754. Published online 2018 Feb 21. doi: 10.15252/embr.201744754
PMCID:
PMC5891417
ArticlePDF–1.0M
19.
Proteome-wide identification of HSP70/HSC70 chaperone clients in human cells
Seung W. Ryu, Rose Stewart, D. Chase Pectol, Nicolette A. Ender, Oshadi Wimalarathne, Ji-Hoon Lee, Carlos P. Zanini, Antony Harvey, Jon M. Huibregtse, Peter Mueller, Tanya T. Paull
PLoS Biol. 2020 Jul; 18(7): e3000606. Published online 2020 Jul 20. doi: 10.1371/journal.pbio.3000606
PMCID:
PMC7392334
ArticlePDF–2.7M
20.
A high-throughput approach for measuring temporal changes in the interactome
Anders R. Kristensen, Joerg Gsponer, Leonard J. Foster
Nat Methods. Author manuscript; available in PMC 2014 Mar 14.
Published in final edited form as: Nat Methods. 2012 Sep; 9(9): 907–909. Published online 2012 Aug 5. doi: 10.1038/nmeth.2131
PMCID:
PMC3954081
ArticlePDF–632K

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