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Items: 17

1.
Disruption of pathways regulated by Integrator complex in Galloway–Mowat syndrome due to WDR73 mutations
F. C. Tilley, C. Arrondel, C. Chhuon, M. Boisson, N. Cagnard, M. Parisot, G. Menara, N. Lefort, I. C. Guerrera, C. Bole-Feysot, A. Benmerah, C. Antignac, G. Mollet
Sci Rep. 2021; 11: 5388. Published online 2021 Mar 8. doi: 10.1038/s41598-021-84472-7
PMCID:
PMC7940485
AbstractArticlePDF–1.6M
2.
Extending the ophthalmological phenotype of Galloway-Mowat syndrome with distinct retinal dysfunction: a report and review of ocular findings
Maha A. Al-Rakan, Manal D. Abothnain, Muhammad T. Alrifai, Majid Alfadhel
BMC Ophthalmol. 2018; 18: 147. Published online 2018 Jun 22. doi: 10.1186/s12886-018-0820-4
PMCID:
PMC6013877
AbstractArticlePDF–690K
3.
WDR73 mutations cause infantile neurodegeneration and variable glomerular kidney disease
Julia Vodopiutz, Rainer Seidl, Daniela Prayer, M. Imran Khan, Johannes A. Mayr, Berthold Streubel, Jens-Oliver Steiß, Andreas Hahn, Dagmar Csaicsich, Christel Castro, Mirna Assoum, Thomas Müller, Dagmar Wieczorek, Grazia M. S. Mancini, Carolin E. Sadowski, Nicolas Levy, André Mégarbané, Koumudi Godbole, Denny Schanze, Friedhelm Hildebrandt, Valérie Delague, Andreas R. Janecke, Martin Zenker
Hum Mutat. Author manuscript; available in PMC 2016 May 1.
Published in final edited form as: Hum Mutat. 2015 Nov; 36(11): 1021–1028. Published online 2015 Aug 6. doi: 10.1002/humu.22828
PMCID:
PMC4616260
AbstractArticlePDF–683K
4.
Recessive nephrocerebellar syndrome on the Galloway-Mowat syndrome spectrum is caused by homozygous protein-truncating mutations of WDR73
Robert N. Jinks, Erik G. Puffenberger, Emma Baple, Brian Harding, Peter Crino, Agnes B. Fogo, Olivia Wenger, Baozhong Xin, Alanna E. Koehler, Madeleine H. McGlincy, Margaret M. Provencher, Jeffrey D. Smith, Linh Tran, Saeed Al Turki, Barry A. Chioza, Harold Cross, Gaurav V. Harlalka, Matthew E. Hurles, Reza Maroofian, Adam D. Heaps, Mary C. Morton, Lisa Stempak, Friedhelm Hildebrandt, Carolin E. Sadowski, Joshua Zaritsky, Kenneth Campellone, D. Holmes Morton, Heng Wang, Andrew Crosby, Kevin A. Strauss
Brain. 2015 Aug; 138(8): 2173–2190. Published online 2015 Jun 12. doi: 10.1093/brain/awv153
PMCID:
PMC4511861
AbstractArticlePDF–2.2M
5.
Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
Estelle Colin, Evelyne Huynh Cong, Géraldine Mollet, Agnès Guichet, Olivier Gribouval, Christelle Arrondel, Olivia Boyer, Laurent Daniel, Marie-Claire Gubler, Zelal Ekinci, Michel Tsimaratos, Brigitte Chabrol, Nathalie Boddaert, Alain Verloes, Arnaud Chevrollier, Naig Gueguen, Valérie Desquiret-Dumas, Marc Ferré, Vincent Procaccio, Laurence Richard, Benoit Funalot, Anne Moncla, Dominique Bonneau, Corinne Antignac
Am J Hum Genet. 2014 Dec 4; 95(6): 637–648. doi: 10.1016/j.ajhg.2014.10.011
PMCID:
PMC4259970
AbstractArticlePDF–3.3M
6.
The E3 ubiquitin ligase APC/CCdh1 degrades MCPH1 after MCPH1‐βTrCP2‐Cdc25A‐mediated mitotic entry to ensure neurogenesis
Xiaoqian Liu, Wen Zong, Tangliang Li, Yujun Wang, Xingzhi Xu, Zhong‐Wei Zhou, Zhao‐Qi Wang
EMBO J. 2017 Dec 15; 36(24): 3666–3681. Published online 2017 Nov 17. doi: 10.15252/embj.201694443
PMCID:
PMC5730889
AbstractArticlePDF–2.4M
7.
A conserved acetylation switch enables pharmacological control of tubby-like protein stability
Evan M. Kerek, Kevin H. Yoon, Shu Y. Luo, Jerry Chen, Robert Valencia, Olivier Julien, Andrew J. Waskiewicz, Basil P. Hubbard
J Biol Chem. 2021 Jan-Jun; 296: 100073. Published online 2020 Nov 23. doi: 10.1074/jbc.RA120.015839
PMCID:
PMC7948452
AbstractArticlePDF–3.6M
8.
Genome-wide CRISPR screens using isogenic cells reveal vulnerabilities conferred by loss of tumor suppressors
Xu Feng, Mengfan Tang, Merve Dede, Dan Su, Guangsheng Pei, Dadi Jiang, Chao Wang, Zhen Chen, Mi Li, Litong Nie, Yun Xiong, Siting Li, Jeong-Min Park, Huimin Zhang, Min Huang, Klaudia Szymonowicz, Zhongming Zhao, Traver Hart, Junjie Chen
Sci Adv. 2022 May; 8(19): eabm6638. Published online 2022 May 13. doi: 10.1126/sciadv.abm6638
PMCID:
PMC9106303
AbstractArticlePDF–918K
9.
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
10.
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
AbstractArticlePDF–3.2M
11.
A Census of Human Soluble Protein Complexes
Pierre C. Havugimana, G. Traver Hart, Tamás Nepusz, Haixuan Yang, Andrei L. Turinsky, Zhihua Li, Peggy I. Wang, Daniel R. Boutz, Vincent Fong, Sadhna Phanse, Mohan Babu, Stephanie A. Craig, Pingzhao Hu, Cuihong Wan, James Vlasblom, Vaqaarun-Nisa Dar, Alexander Bezginov, Gregory W. Clark, Gabriel C. Wu, Shoshana J. Wodak, Elisabeth R.M. Tillier, Alberto Paccanaro, Edward M. Marcotte, Andrew Emili
Cell. Author manuscript; available in PMC 2013 Aug 31.
Published in final edited form as: Cell. 2012 Aug 31; 150(5): 1068–1081. doi: 10.1016/j.cell.2012.08.011
PMCID:
PMC3477804
AbstractArticlePDF–7.7M
12.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
PMCID:
PMC9279285
AbstractArticlePDF–2.5M
13.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
14.
Architecture of the human interactome defines protein communities and disease networks
Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper
Nature. Author manuscript; available in PMC 2017 Nov 17.
Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366
PMCID:
PMC5531611
AbstractArticlePDF–2.7M
15.
Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome
Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2022 May 27.
Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011
PMCID:
PMC8165030
AbstractArticlePDF–2.2M
16.
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
17.
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

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