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Items: 1 to 20 of 24

1.
BBSome Component BBS5 Is Required for Cone Photoreceptor Protein Trafficking and Outer Segment Maintenance
Katie L. Bales, Melissa R. Bentley, Mandy J. Croyle, Robert A. Kesterson, Bradley K. Yoder, Alecia K. Gross
Invest Ophthalmol Vis Sci. 2020 Aug; 61(10): 17. Published online 2020 Aug 10. doi: 10.1167/iovs.61.10.17
PMCID:
PMC7441369
AbstractArticlePDF–5.7M
2.
A mouse model of BBS identifies developmental and homeostatic effects of BBS5 mutation and identifies novel pituitary abnormalities
Melissa R Bentley-Ford, Staci E Engle, Kelsey R Clearman, Courtney J Haycraft, Reagan S Andersen, Mandy J Croyle, Addison B Rains, Nicolas F Berbari, Bradley K Yoder
Hum Mol Genet. 2021 Feb 1; 30(3-4): 234–246. Published online 2021 Feb 9. doi: 10.1093/hmg/ddab039
PMCID:
PMC8355464
AbstractArticlePDF–2.0M
3.
Light-dependent phosphorylation of Bardet–Biedl syndrome 5 in photoreceptor cells modulates its interaction with arrestin1
Tyler S. Smith, Benjamin Spitzbarth, Jian Li, Donald R. Dugger, Gabi Stern-Schneider, Elisabeth Sehn, Susan N. Bolch, J. Hugh McDowell, Jeremiah Tipton, Uwe Wolfrum, W. Clay Smith
Cell Mol Life Sci. 2013 Dec; 70(23): 4603–4616. Published online 2013 Jul 2. doi: 10.1007/s00018-013-1403-4
PMCID:
PMC3819411
AbstractArticlePDF–1.6M
4.
Loss of Bardet-Biedl syndrome proteins causes synaptic aberrations in principal neurons
Naila Haq, Christoph Schmidt-Hieber, Fernando J. Sialana, Lorenza Ciani, Janosch P. Heller, Michelle Stewart, Liz Bentley, Sara Wells, Richard J. Rodenburg, Patrick M. Nolan, Elizabeth Forsythe, Michael C. Wu, Gert Lubec, P. Salinas, Michael Häusser, Philip L. Beales, Sofia Christou-Savina
PLoS Biol. 2019 Sep; 17(9): e3000414. Published online 2019 Sep 3. doi: 10.1371/journal.pbio.3000414
Correction in:
PLoS Biol. 2019 Oct; 17(10): e3000520.
PMCID:
PMC6743795
AbstractArticlePDF–3.1M
5.
Defining the layers of a sensory cilium with STORM and cryoelectron nanoscopy
Michael A. Robichaux, Valencia L. Potter, Zhixian Zhang, Feng He, Jun Liu, Michael F. Schmid, Theodore G. Wensel
Proc Natl Acad Sci U S A. 2019 Nov 19; 116(47): 23562–23572. Published online 2019 Nov 5. doi: 10.1073/pnas.1902003116
PMCID:
PMC6876244
AbstractArticlePDF–2.8M
6.
IFT27 Links the BBSome to IFT for Maintenance of the Ciliary Signaling Compartment
Thibaut Eguether, Jovenal T. San Agustin, Brian T. Keady, Julie A. Jonassen, Yinwen Liang, Richard Francis, Kimimasa Tobita, Colin A. Johnson, Zakia A. Abdelhamed, Cecilia W. Lo, Gregory J. Pazour
Dev Cell. Author manuscript; available in PMC 2015 Nov 10.
Published in final edited form as: Dev Cell. 2014 Nov 10; 31(3): 279–290. Published online 2014 Oct 30. doi: 10.1016/j.devcel.2014.09.011
PMCID:
PMC4254547
AbstractArticlePDF–1.4M
7.
The conserved Bardet-Biedl Syndrome proteins assemble a coat that traffics membrane proteins to cilia
Hua Jin, Susan Roehl White, Toshinobu Shida, Stefan Schulz, Mike Aguiar, Steven P. Gygi, J. Fernando Bazan, Maxence V. Nachury
Cell. Author manuscript; available in PMC 2011 Jun 25.
Published in final edited form as: Cell. 2010 Jun 25; 141(7): 1208–1219. doi: 10.1016/j.cell.2010.05.015
PMCID:
PMC2898735
AbstractArticlePDF–2.1M
8.
DAZ-interacting Protein 1 (Dzip1) Phosphorylation by Polo-like Kinase 1 (Plk1) Regulates the Centriolar Satellite Localization of the BBSome Protein during the Cell Cycle
Boyan Zhang, Gang Wang, Xiaowei Xu, Sisi Yang, Tenghan Zhuang, Guopeng Wang, He Ren, Steven Y. Cheng, Qing Jiang, Chuanmao Zhang
J Biol Chem. 2017 Jan 27; 292(4): 1351–1360. Published online 2016 Dec 15. doi: 10.1074/jbc.M116.765438
PMCID:
PMC5270478
AbstractArticlePDF–3.3M
9.
A Novel Protein LZTFL1 Regulates Ciliary Trafficking of the BBSome and Smoothened
Seongjin Seo, Qihong Zhang, Kevin Bugge, David K. Breslow, Charles C. Searby, Maxence V. Nachury, Val C. Sheffield
PLoS Genet. 2011 Nov; 7(11): e1002358. Published online 2011 Nov 3. doi: 10.1371/journal.pgen.1002358
PMCID:
PMC3207910
AbstractArticlePDF–6.1M
10.
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
11.
The Centriolar Satellite Protein AZI1 Interacts with BBS4 and Regulates Ciliary Trafficking of the BBSome
Xitiz Chamling, Seongjin Seo, Charles C. Searby, GunHee Kim, Diane C. Slusarski, Val C. Sheffield
PLoS Genet. 2014 Feb; 10(2): e1004083. Published online 2014 Feb 13. doi: 10.1371/journal.pgen.1004083
PMCID:
PMC3923683
AbstractArticlePDF–1.6M
12.
The BBSome controls IFT assembly and turnaround in cilia
Qing Wei, Yuxia Zhang, Yujie Li, Qing Zhang, Kun Ling, Jinghua Hu
Nat Cell Biol. Author manuscript; available in PMC 2013 Mar 1.
Published in final edited form as: Nat Cell Biol. 2012 Sep; 14(9): 950–957. Published online 2012 Aug 26. doi: 10.1038/ncb2560
PMCID:
PMC3434251
AbstractArticlePDF–1.3M
13.
Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss
Gayle B. Collin, Navdeep Gogna, Bo Chang, Nattaya Damkham, Jai Pinkney, Lillian F. Hyde, Lisa Stone, Jürgen K. Naggert, Patsy M. Nishina, Mark P. Krebs
Cells. 2020 Apr; 9(4): 931. Published online 2020 Apr 10. doi: 10.3390/cells9040931
PMCID:
PMC7227028
AbstractArticlePDF–5.4M
14.
Matrix-screening reveals a vast potential for direct protein-protein interactions among RNA binding proteins
Benjamin Lang, Jae-Seong Yang, Mireia Garriga-Canut, Silvia Speroni, Moritz Aschern, Maria Gili, Tobias Hoffmann, Gian Gaetano Tartaglia, Sebastian P Maurer
Nucleic Acids Res. 2021 Jul 9; 49(12): 6702–6721. Published online 2021 Jun 16. doi: 10.1093/nar/gkab490
PMCID:
PMC8266617
AbstractArticlePDF–4.0M
15.
High-throughput discovery of novel developmental phenotypes
Mary E. Dickinson, Ann M. Flenniken, Xiao Ji, Lydia Teboul, Michael D. Wong, Jacqueline K. White, Terrence F. Meehan, Wolfgang J. Weninger, Henrik Westerberg, Hibret Adissu, Candice N. Baker, Lynette Bower, James M. Brown, L. Brianna Caddle, Francesco Chiani, Dave Clary, James Cleak, Mark J. Daly, James M. Denegre, Brendan Doe, Mary E. Dolan, Sarah M. Edie, Helmut Fuchs, Valerie Gailus-Durner, Antonella Galli, Alessia Gambadoro, Juan Gallegos, Shiying Guo, Neil R. Horner, Chih-wei Hsu, Sara J. Johnson, Sowmya Kalaga, Lance C. Keith, Louise Lanoue, Thomas N. Lawson, Monkol Lek, Manuel Mark, Susan Marschall, Jeremy Mason, Melissa L. McElwee, Susan Newbigging, Lauryl M.J. Nutter, Kevin A. Peterson, Ramiro Ramirez-Solis, Douglas J. Rowland, Edward Ryder, Kaitlin E. Samocha, John R. Seavitt, Mohammed Selloum, Zsombor Szoke-Kovacs, Masaru Tamura, Amanda G Trainor, Ilinca Tudose, Shigeharu Wakana, Jonathan Warren, Olivia Wendling, David B. West, Leeyean Wong, Atsushi Yoshiki, The International Mouse Phenotyping Consortium, Daniel G. MacArthur, Glauco P. Tocchini-Valentini, Xiang Gao, Paul Flicek, Allan Bradley, William C. Skarnes, Monica J. Justice, Helen E. Parkinson, Mark Moore, Sara Wells, Robert E. Braun, Karen L. Svenson, Martin Hrabe de Angelis, Yann Herault, Tim Mohun, Ann-Marie Mallon, R. Mark Henkelman, Steve D.M. Brown, David J. Adams, K.C. Kent Lloyd, Colin McKerlie, Arthur L. Beaudet, Maja Bucan, Stephen A. Murray
Nature. Author manuscript; available in PMC 2017 Mar 14.
Published in final edited form as: Nature. 2016 Sep 22; 537(7621): 508–514. Published online 2016 Sep 14. doi: 10.1038/nature19356
Correction in:
Nature. 2017 Nov 16; 551(7680): 398.
PMCID:
PMC5295821
AbstractArticlePDF–3.0M
16.
The International Mouse Phenotyping Consortium Web Portal, a unified point of access for knockout mice and related phenotyping data
Gautier Koscielny, Gagarine Yaikhom, Vivek Iyer, Terrence F. Meehan, Hugh Morgan, Julian Atienza-Herrero, Andrew Blake, Chao-Kung Chen, Richard Easty, Armida Di Fenza, Tanja Fiegel, Mark Grifiths, Alan Horne, Natasha A. Karp, Natalja Kurbatova, Jeremy C. Mason, Peter Matthews, Darren J. Oakley, Asfand Qazi, Jack Regnart, Ahmad Retha, Luis A. Santos, Duncan J. Sneddon, Jonathan Warren, Henrik Westerberg, Robert J. Wilson, David G. Melvin, Damian Smedley, Steve D. M. Brown, Paul Flicek, William C. Skarnes, Ann-Marie Mallon, Helen Parkinson
Nucleic Acids Res. 2014 Jan 1; 42(Database issue): D802–D809. Published online 2013 Nov 3. doi: 10.1093/nar/gkt977
PMCID:
PMC3964955
AbstractArticlePDF–5.7M
17.
Genetic determinants of micronucleus formation in vivo
D. J. Adams, B. Barlas, R. E. McIntyre, I. Salguero, L. van der Weyden, A. Barros, J. R. Vicente, N. Karimpour, A. Haider, M. Ranzani, G. Turner, N. A. Thompson, V. Harle, R. Olvera-León, C. D. Robles-Espinoza, A. O. Speak, N. Geisler, W. J. Weninger, S. H. Geyer, J. Hewinson, N. A. Karp, The Sanger Mouse Genetics Project, B. Fu, F. Yang, Z. Kozik, J. Choudhary, L. Yu, M. S. van Ruiten, B. D. Rowland, C. J. Lelliott, M. del Castillo Velasco-Herrera, R. Verstraten, L. Bruckner, A. G. Henssen, M. A. Rooimans, J. de Lange, T. J. Mohun, M. J. Arends, K. A. Kentistou, P. A. Coelho, Y. Zhao, H. Zecchini, J. R. B. Perry, S. P. Jackson, G. Balmus
Nature. 2024; 627(8002): 130–136. Published online 2024 Feb 14. doi: 10.1038/s41586-023-07009-0
PMCID:
PMC10917660
AbstractArticlePDF–4.8M
18.
A conditional knockout resource for the genome–wide study of mouse gene function
William C. Skarnes, Barry Rosen, Anthony P. West, Manousos Koutsourakis, Wendy Bushell, Vivek Iyer, Alejandro O. Mujica, Mark Thomas, Jennifer Harrow, Tony Cox, David Jackson, Jessica Severin, Patrick Biggs, Jun Fu, Michael Nefedov, Pieter J. de Jong, A. Francis Stewart, Allan Bradley
Nature. Author manuscript; available in PMC 2013 Feb 14.
Published in final edited form as: Nature. 2011 Jun 15; 474(7351): 337–342. Published online 2011 Jun 15. doi: 10.1038/nature10163
PMCID:
PMC3572410
AbstractArticlePDF–1.1M
19.
Wnk1 kinase deficiency lowers blood pressure in mice: A gene-trap screen to identify potential targets for therapeutic intervention
Brian P. Zambrowicz, Alejandro Abuin, Ramiro Ramirez-Solis, Lizabeth J. Richter, James Piggott, Hector BeltrandelRio, Eric C. Buxton, Joel Edwards, Rick A. Finch, Carl J. Friddle, Anupma Gupta, Gwenn Hansen, Yi Hu, Wenhu Huang, Crystal Jaing, Billie Wayne Key, Jr., Peter Kipp, Buckley Kohlhauff, Zhi-Qing Ma, Diane Markesich, Robert Payne, David G. Potter, Ny Qian, Joseph Shaw, Jeff Schrick, Zheng-Zheng Shi, Mary Jean Sparks, Isaac Van Sligtenhorst, Peter Vogel, Wade Walke, Nianhua Xu, Qichao Zhu, Christophe Person, Arthur T. Sands
Proc Natl Acad Sci U S A. 2003 Nov 25; 100(24): 14109–14114. Published online 2003 Nov 10. doi: 10.1073/pnas.2336103100
Correction in:
Proc Natl Acad Sci U S A. 2004 Mar 23; 101(12): 4332.
PMCID:
PMC283554
AbstractArticlePDF–481K
20.
The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)
Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504
Correction in:
Genome Res. 2006 Jun; 16(6): 804.
PMCID:
PMC528928
AbstractArticlePDF–140K

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