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Items: 1 to 20 of 32

1.
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
2.
EZH2 depletion potentiates MYC degradation inhibiting neuroblastoma and small cell carcinoma tumor formation
Liyuan Wang, Chan Chen, Zemin Song, Honghong Wang, Minghui Ye, Donghai Wang, Wenqian Kang, Hudan Liu, Guoliang Qing
Nat Commun. 2022; 13: 12. Published online 2022 Jan 10. doi: 10.1038/s41467-021-27609-6
PMCID:
PMC8748958
AbstractArticlePDF–3.0M
3.
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
4.
Dlec1 is required for spermatogenesis and male fertility in mice
Yu Okitsu, Mamoru Nagano, Takahiro Yamagata, Chizuru Ito, Kiyotaka Toshimori, Hideo Dohra, Wataru Fujii, Keiichiro Yogo
Sci Rep. 2020; 10: 18883. Published online 2020 Nov 3. doi: 10.1038/s41598-020-75957-y
PMCID:
PMC7642295
AbstractArticlePDF–2.3M
5.
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
6.
Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein
Charles Anthony Scott, Autumn N. Marsden, Michael R. Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C. Searby, Lisa M. Baye, Val C. Sheffield, Diane C. Slusarski
PLoS Genet. 2017 Jul; 13(7): e1006936. Published online 2017 Jul 28. doi: 10.1371/journal.pgen.1006936
PMCID:
PMC5550010
AbstractArticlePDF–37M
7.
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
8.
Sequence variants in four genes underlying Bardet-Biedl syndrome in consanguineous families
Asmat Ullah, Muhammad Umair, Maryam Yousaf, Sher Alam Khan, Muhammad Nazim-ud-din, Khadim Shah, Farooq Ahmad, Zahid Azeem, Ghazanfar Ali, Bader Alhaddad, Afzal Rafique, Abid Jan, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Tahseen Ghous, Wasim Ahmad
Mol Vis. 2017; 23: 482–494. Published online 2017 Jul 21.
PMCID:
PMC5524433
AbstractArticlePDF–4.1M
9.
A novel H395R mutation in MKKS/BBS6 causes retinitis pigmentosa and polydactyly without other findings of Bardet-Biedl or McKusick-Kaufman syndrome
John D. Hulleman, Annie Nguyen, V.L. Ramprasad, Sakthivel Murugan, Ravi Gupta, Avinash Mahindrakar, Ravi Angara, Chandrasekhar Sankurathri, V. Vinod Mootha
Mol Vis. 2016; 22: 73–81. Published online 2016 Jan 24.
PMCID:
PMC4734152
AbstractArticlePDF–1.4M
10.
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
11.
Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization
Victor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, Helen May-Simera, Dagan Jenkins, Martin Knight, Philip L. Beales
Hum Mol Genet. 2013 Oct 1; 22(19): 3858–3868. Published online 2013 May 27. doi: 10.1093/hmg/ddt241
PMCID:
PMC3766180
AbstractArticlePDF–1.6M
12.
Intrinsic Protein-Protein Interaction-mediated and Chaperonin-assisted Sequential Assembly of Stable Bardet-Biedl Syndrome Protein Complex, the BBSome
Qihong Zhang, Dahai Yu, Seongjin Seo, Edwin M. Stone, Val C. Sheffield
J Biol Chem. 2012 Jun 8; 287(24): 20625–20635. Published online 2012 Apr 12. doi: 10.1074/jbc.M112.341487
PMCID:
PMC3370246
AbstractArticlePDF–2.3M
13.
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis
Rivka A. Rachel, Helen L. May-Simera, Shobi Veleri, Norimoto Gotoh, Byung Yoon Choi, Carlos Murga-Zamalloa, Jeremy C. McIntyre, Jonah Marek, Irma Lopez, Alice N. Hackett, Matthew Brooks, Anneke I. den Hollander, Philip L. Beales, Tiansen Li, Samuel G. Jacobson, Raman Sood, Jeffrey R. Martens, Paul Liu, Thomas B. Friedman, Hemant Khanna, Robert K. Koenekoop, Matthew W. Kelley, Anand Swaroop
J Clin Invest. 2012 Apr 2; 122(4): 1233–1245. Published online 2012 Mar 26. doi: 10.1172/JCI60981
Correction in:
J Clin Invest. 2012 Aug 1; 122(8): 3025.
PMCID:
PMC3314468
AbstractArticlePDF–1.6M
14.
Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation
Cecilia Gascue, Perciliz L. Tan, Magdalena Cardenas-Rodriguez, Gabriela Libisch, Tamara Fernandez-Calero, Yangfan P. Liu, Soledad Astrada, Carlos Robello, Hugo Naya, Nicholas Katsanis, Jose L. Badano
J Cell Sci. 2012 Jan 15; 125(2): 362–375. doi: 10.1242/jcs.089375
PMCID:
PMC3283873
AbstractArticle
15.
Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN
Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi
J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907
PMCID:
PMC3190826
AbstractArticlePDF–5.7M
16.
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
17.
Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study
Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators
Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452
PMCID:
PMC2945168
AbstractArticlePDF–153K
18.
Chaperonin genes on the rise: new divergent classes and intense duplication in human and other vertebrate genomes
Krishanu Mukherjee, Everly Conway de Macario, Alberto JL Macario, Luciano Brocchieri
BMC Evol Biol. 2010; 10: 64. Published online 2010 Mar 1. doi: 10.1186/1471-2148-10-64
PMCID:
PMC2846930
AbstractArticlePDF–1.2M
19.
BBS6, BBS10, and BBS12 form a complex with CCT/TRiC family chaperonins and mediate BBSome assembly
Seongjin Seo, Lisa M. Baye, Nathan P. Schulz, John S. Beck, Qihong Zhang, Diane C. Slusarski, Val C. Sheffield
Proc Natl Acad Sci U S A. 2010 Jan 26; 107(4): 1488–1493. Published online 2010 Jan 6. doi: 10.1073/pnas.0910268107
PMCID:
PMC2824390
AbstractArticlePDF–1009K
20.
Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip
Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani
Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014
PMCID:
PMC2775832
AbstractArticlePDF–2.8M

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