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Items: 1 to 20 of 23

1.
Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3
Pelin Ozlem Simsek-Kiper, Prince Jacob, Priyanka Upadhyai, Zihni Ekim Taşkıran, Vishal S. Guleria, Beren Karaosmanoglu, Gozde Imren, Rahsan Gocmen, Gandham S. Bhavani, Neethukrishna Kausthubham, Hitesh Shah, Gulen Eda Utine, Koray Boduroglu, Katta M. Girisha
Hum Mutat. Author manuscript; available in PMC 2024 Apr 25.
Published in final edited form as: Hum Mutat. 2022 Dec 1; 43(12): 2116–2129. Published online 2022 Oct 8. doi: 10.1002/humu.24478
PMCID:
PMC7615863
ArticlePDF–1.6M
2.
A novel multiple joint dislocation syndrome associated with a homozygous nonsense variant in the EXOC6B gene
Katta Mohan Girisha, Fanny Kortüm, Hitesh Shah, Malik Alawi, Ashwin Dalal, Gandham SriLakshmi Bhavani, Kerstin Kutsche
Eur J Hum Genet. 2016 Aug; 24(8): 1206–1210. Published online 2015 Dec 16. doi: 10.1038/ejhg.2015.261
PMCID:
PMC4970677
ArticlePDF–1.7M
3.
Disruption of EXOC6B in a patient with developmental delay, epilepsy, and a de novo balanced t(2;8) translocation
Anne Frühmesser, Jonathon Blake, Edda Haberlandt, Bianka Baying, Benjamin Raeder, Heiko Runz, Ana Spreiz, Christine Fauth, Vladimir Benes, Gerd Utermann, Johannes Zschocke, Dieter Kotzot
Eur J Hum Genet. 2013 Oct; 21(10): 1177–1180. Published online 2013 Feb 20. doi: 10.1038/ejhg.2013.18
PMCID:
PMC3778356
ArticlePDF–818K
4.
Functional characterisation of human cells harbouring a novel t(2p;7p) translocation involving TNS3 and EXOC6B genes
Desiree Ludwig, Jessica Carter, James R Smith, Giuseppe Borsani, Sergio Barlati, Sassan Hafizi
BMC Med Genet. 2013; 14: 65. Published online 2013 Jun 28. doi: 10.1186/1471-2350-14-65
PMCID:
PMC3728010
ArticlePDF–1008K
5.
Phenotypic and functional consequences of haploinsufficiency of genes from exocyst and retinoic acid pathway due to a recurrent microdeletion of 2p13.2
Jiadi Wen, Fátima Lopes, Gabriela Soares, Sandra A Farrell, Cara Nelson, Ying Qiao, Sally Martell, Chansonette Badukke, Carlos Bessa, Bauke Ylstra, Suzanne Lewis, Nina Isoherranen, Patricia Maciel, Evica Rajcan-Separovic
Orphanet J Rare Dis. 2013; 8: 100. Published online 2013 Jul 10. doi: 10.1186/1750-1172-8-100
PMCID:
PMC3710273
ArticlePDF–1.7M
6.
A Rab8 Guanine Nucleotide Exchange Factor-Effector Interaction Network Regulates Primary Ciliogenesis
Shanshan Feng, Andreas Knödler, Jinqi Ren, Jian Zhang, Xiaoyu Zhang, Yujuan Hong, Shaohui Huang, Johan Peränen, Wei Guo
J Biol Chem. 2012 May 4; 287(19): 15602–15609. Published online 2012 Mar 19. doi: 10.1074/jbc.M111.333245
PMCID:
PMC3346093
ArticlePDF–2.2M
7.
Exorcising the Exocyst Complex
Margaret R. Heider, Mary Munson
Traffic. Author manuscript; available in PMC 2013 Jul 1.
Published in final edited form as: Traffic. 2012 Jul; 13(7): 898–907. Published online 2012 Apr 8. doi: 10.1111/j.1600-0854.2012.01353.x
PMCID:
PMC3374049
ArticlePDF–1.1M
8.
Targeting RICTOR sensitizes SMAD4-negative colon cancer to irinotecan
Chen Khuan Wong, Arthur William Lambert, Sait Ozturk, Panagiotis Papageorgis, Delia Lopez, Ning Shen, Zaina Sen, Hamid Mostafavi Abdolmaleky, Balázs Győrffy, Hui Feng, Sam Thiagalingam
Mol Cancer Res. Author manuscript; available in PMC 2020 Sep 1.
Published in final edited form as: Mol Cancer Res. 2020 Mar; 18(3): 414–423. Published online 2020 Jan 13. doi: 10.1158/1541-7786.MCR-19-0525
PMCID:
PMC7115128
ArticlePDF–1.6M
9.
A Comprehensive Resource of Interacting Protein Regions for Refining Human Transcription Factor Networks
Etsuko Miyamoto-Sato, Shigeo Fujimori, Masamichi Ishizaka, Naoya Hirai, Kazuyo Masuoka, Rintaro Saito, Yosuke Ozawa, Katsuya Hino, Takanori Washio, Masaru Tomita, Tatsuhiro Yamashita, Tomohiro Oshikubo, Hidetoshi Akasaka, Jun Sugiyama, Yasuo Matsumoto, Hiroshi Yanagawa
PLoS One. 2010; 5(2): e9289. Published online 2010 Feb 24. doi: 10.1371/journal.pone.0009289
PMCID:
PMC2827538
ArticlePDF–676K
10.
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms
Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group
Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491
PMCID:
PMC4869170
ArticlePDF–2.0M
11.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
ArticlePDF–1.3M
12.
RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination
Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski
BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9
PMCID:
PMC5678581
ArticlePDF–3.2M
13.
PLEKHA4/kramer Attenuates Dishevelled Ubiquitination to Modulate Wnt and Planar Cell Polarity Signaling
Adnan Shami Shah, Alex G. Batrouni, Dongsung Kim, Amith Punyala, Wendy Cao, Chun Han, Michael L. Goldberg, Marcus B. Smolka, Jeremy M. Baskin
Cell Rep. Author manuscript; available in PMC 2019 Jun 26.
Published in final edited form as: Cell Rep. 2019 May 14; 27(7): 2157–2170.e8. doi: 10.1016/j.celrep.2019.04.060
PMCID:
PMC6594551
ArticlePDF–1.4M
14.
VIRMA mediates preferential m6A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation
Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu
Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0
PMCID:
PMC5826926
ArticlePDF–2.3M
15.
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
ArticlePDF–2.5M
16.
Panorama of ancient metazoan macromolecular complexes
Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili
Nature. Author manuscript; available in PMC 2016 Sep 26.
Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877
PMCID:
PMC5036527
ArticlePDF–4.7M
17.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
ArticlePDF–23M
18.
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
ArticlePDF–2.2M
19.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
ArticlePDF–5.4M
20.
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
ArticlePDF–2.7M

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