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Items: 1 to 20 of 28

1.
Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center
Thierry Vilboux, Daniel A. Doherty, Ian A. Glass, Melissa A. Parisi, Ian G. Phelps, Andrew R. Cullinane, Wadih Zein, Brian P. Brooks, Theo Heller, Ariane Soldatos, Neal L. Oden, Deniz Yildirimli, Meghana Vemulapalli, James C. Mullikin, NISC Comparative Sequencing Program, May Christine V. Malicdan, William A. Gahl, Meral Gunay-Aygun
Genet Med. Author manuscript; available in PMC 2024 Nov 1.
Published in final edited form as: Genet Med. 2017 Aug; 19(8): 875–882. Published online 2017 Jan 26. doi: 10.1038/gim.2016.204
PMCID:
PMC11528337
AbstractArticlePDF–825K
2.
Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates
Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert
Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644
PMCID:
PMC10565876
AbstractArticlePDF–3.7M
3.
Mapping the MOB proteins’ proximity network reveals a unique interaction between human MOB3C and the RNase P complex
Islam E. Elkholi, Jonathan Boulais, Marie-Pier Thibault, Hong-Duc Phan, Amélie Robert, Lien B. Lai, Denis Faubert, Matthew J. Smith, Venkat Gopalan, Jean-Franҫois Côté
J Biol Chem. 2023 Sep; 299(9): 105123. Published online 2023 Aug 1. doi: 10.1016/j.jbc.2023.105123
PMCID:
PMC10480535
AbstractArticlePDF–2.4M
4.
Proximity Mapping of CCP6 Reveals Its Association with Centrosome Organization and Cilium Assembly
Sergi Rodriguez-Calado, Petra Van Damme, Francesc Xavier Avilés, Ana Paula Candiota, Sebastian Tanco, Julia Lorenzo
Int J Mol Sci. 2023 Jan; 24(2): 1273. Published online 2023 Jan 9. doi: 10.3390/ijms24021273
PMCID:
PMC9867282
AbstractArticlePDF–2.5M
5.
Genetic and Phenotypic Heterogeneity in KIAA0753-related Ciliopathies
Katherine A. Inskeep, Yuri A. Zarate, Danielle Monteil, Jurgen Spranger, Dan Doherty, Rolf W. Stottmann, K. Nicole Weaver
Am J Med Genet A. Author manuscript; available in PMC 2023 Jan 1.
Published in final edited form as: Am J Med Genet A. 2022 Jan; 188(1): 104–115. Published online 2021 Sep 15. doi: 10.1002/ajmg.a.62497
PMCID:
PMC9274454
AbstractArticlePDF–519K
6.
CEP120-mediated KIAA0753 recruitment onto centrioles is required for timely neuronal differentiation and germinal zone exit in the developing cerebellum
Chia-Hsiang Chang, Ting-Yu Chen, I-Ling Lu, Rong-Bin Li, Jhih-Jie Tsai, Pin-Yeh Lin, Tang K. Tang
Genes Dev. 2021 Nov 1; 35(21-22): 1445–1460. doi: 10.1101/gad.348636.121
PMCID:
PMC8559671
AbstractArticlePDF–57M
7.
A ciliopathy complex builds distal appendages to initiate ciliogenesis
Dhivya Kumar, Addison Rains, Vicente Herranz-Pérez, Quanlong Lu, Xiaoyu Shi, Danielle L. Swaney, Erica Stevenson, Nevan J. Krogan, Bo Huang, Christopher Westlake, Jose Manuel Garcia-Verdugo, Bradley K. Yoder, Jeremy F. Reiter
J Cell Biol. 2021 Sep 6; 220(9): e202011133. Published online 2021 Jul 9. doi: 10.1083/jcb.202011133
PMCID:
PMC8276316
AbstractArticlePDF–10M
8.
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
9.
Exploiting TRIM37-driven centrosome dysfunction to kill breast cancer cells
Zhong Y. Yeow, Bramwell G. Lambrus, Rebecca Marlow, Kevin H. Zhan, Mary-Anne Durin, Lauren T. Evans, Phillip M. Scott, Thao Phan, Elizabeth Park, Lorena A. Ruiz, Daniela Moralli, Eleanor G. Knight, Luned M. Badder, Daniela Novo, Syed Haider, Catherine M. Green, Andrew NJ Tutt, Christopher J Lord, J. Ross Chapman, Andrew J. Holland
Nature. Author manuscript; available in PMC 2021 Sep 9.
Published in final edited form as: Nature. 2020 Sep; 585(7825): 447–452. Published online 2020 Sep 9. doi: 10.1038/s41586-020-2690-1
PMCID:
PMC7597367
AbstractArticlePDF–1.7M
10.
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
AbstractArticlePDF–5.4M
11.
Proximity interactions of the ubiquitin ligase Mind bomb 1 reveal a role in regulation of epithelial polarity complex proteins
Sascha E. Dho, Nancy Silva-Gagliardi, Fabio Morgese, Etienne Coyaud, Emily Lamoureux, Donna M. Berry, Brian Raught, C. Jane McGlade
Sci Rep. 2019; 9: 12471. Published online 2019 Aug 28. doi: 10.1038/s41598-019-48902-x
PMCID:
PMC6713736
AbstractArticlePDF–5.6M
12.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
13.
Proteomic and Biochemical Comparison of the Cellular Interaction Partners of Human VPS33A and VPS33B
Morag R. Hunter, Geoffrey G. Hesketh, Tomasz H. Benedyk, Anne-Claude Gingras, Stephen C. Graham
J Mol Biol. 2018 Jul 6; 430(14): 2153–2163. doi: 10.1016/j.jmb.2018.05.019
PMCID:
PMC6005816
AbstractArticlePDF–1.6M
14.
The MYO6 interactome reveals adaptor complexes coordinating early endosome and cytoskeletal dynamics
Thomas O'Loughlin, Thomas A Masters, Folma Buss
EMBO Rep. 2018 Apr; 19(4): e44884. Published online 2018 Feb 21. doi: 10.15252/embr.201744884
PMCID:
PMC5891429
AbstractArticlePDF–9.1M
15.
Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies
A. Hammarsjö, Z. Wang, R. Vaz, F. Taylan, M. Sedghi, K. M. Girisha, D. Chitayat, K. Neethukrishna, P. Shannon, R. Godoy, K. Gowrishankar, A. Lindstrand, J. Nasiri, M. Baktashian, P. T. Newton, L. Guo, W. Hofmeister, M. Pettersson, A. S. Chagin, G. Nishimura, L. Yan, N. Matsumoto, A. Nordgren, N. Miyake, G. Grigelioniene, S. Ikegawa
Sci Rep. 2017; 7: 15585. Published online 2017 Nov 14. doi: 10.1038/s41598-017-15442-1
PMCID:
PMC5686170
AbstractArticlePDF–6.9M
16.
15 years of research on Oral-Facial-Digital syndromes: from 1 to 16 causal genes
Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H. Giles, Colin A. Johnson, Martijn A. Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R. Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J. Pazour, Vicente Herranz-Pérez, Jaclyn S. Lee, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R. Leroux, John B. Wallingford, Oliver E. Blacque, Maxence V. Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet
J Med Genet. Author manuscript; available in PMC 2017 Aug 15.
Published in final edited form as: J Med Genet. 2017 Jun; 54(6): 371–380. Published online 2017 Mar 13. doi: 10.1136/jmedgenet-2016-104436
PMCID:
PMC5557276
AbstractArticlePDF–786K
17.
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
18.
Mutations in KIAA0753 cause Joubert syndrome associated with growth hormone deficiency
Joshi Stephen, Thierry Vilboux, Luhe Mian, Chulaluck Kuptanon, Courtney M. Sinclair, Deniz Yildirimli, Dawn M. Maynard, Joy Bryant, Roxanne Fischer, Meghana Vemulapalli, James C. Mullikin, NISC Comparative Sequencing Program, Marjan Huizing, William A. Gahl, May Christine V. Malicdan, Meral Gunay-Aygun
Hum Genet. Author manuscript; available in PMC 2018 Apr 1.
Published in final edited form as: Hum Genet. 2017 Apr; 136(4): 399–408. Published online 2017 Feb 20. doi: 10.1007/s00439-017-1765-z
PMCID:
PMC5395200
AbstractArticlePDF–1.0M
19.
A dynamic protein interaction landscape of the human centrosome-cilium interface
Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier
Cell. Author manuscript; available in PMC 2016 Dec 3.
Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065
PMCID:
PMC5089374
AbstractArticlePDF–1.5M
20.
Widespread expansion of protein interaction capabilities by alternative splicing
Xinping Yang, Jasmin Coulombe-Huntington, Shuli Kang, Gloria M. Sheynkman, Tong Hao, Aaron Richardson, Song Sun, Fan Yang, Yun A. Shen, Ryan R. Murray, Kerstin Spirohn, Bridget E. Begg, Miquel Duran-Frigola, Andrew MacWilliams, Samuel J. Pevzner, Quan Zhong, Shelly A. Wanamaker, Stanley Tam, Lila Ghamsari, Nidhi Sahni, Song Yi, Maria D. Rodriguez, Dawit Balcha, Guihong Tan, Michael Costanzo, Brenda Andrews, Charles Boone, Xianghong J. Zhou, Kourosh Salehi-Ashtiani, Benoit Charloteaux, Alyce A. Chen, Michael A. Calderwood, Patrick Aloy, Frederick P. Roth, David E. Hill, Lilia M. Iakoucheva, Yu Xia, Marc Vidal
Cell. Author manuscript; available in PMC 2017 Feb 11.
Published in final edited form as: Cell. 2016 Feb 11; 164(4): 805–817. doi: 10.1016/j.cell.2016.01.029
PMCID:
PMC4882190
AbstractArticlePDF–1.9M

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