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Items: 1 to 20 of 25

1.
Identification of photoreceptor genes affected by PRPF31 mutations associated with autosomal dominant retinitis pigmentosa
Daniel Mordes, Liya Yuan, Lili Xu, Mariko Kawada, Robert S. Molday, Jane Y. Wu
Neurobiol Dis. Author manuscript; available in PMC 2008 May 1.
Published in final edited form as: Neurobiol Dis. 2007 May; 26(2): 291–300. Published online 2007 Mar 9. doi: 10.1016/j.nbd.2006.08.026
PMCID:
PMC2014719
AbstractArticlePDF–662K
2.
Retinal pigment epithelium degeneration caused by aggregation of PRPF31 and the role of HSP70 family of proteins
Lourdes Valdés-Sánchez, Sofia M. Calado, Berta de la Cerda, Ana Aramburu, Ana Belén García-Delgado, Simone Massalini, Adoración Montero-Sánchez, Vaibhav Bhatia, Eduardo Rodríguez-Bocanegra, Andrea Diez-Lloret, Daniel Rodríguez-Martínez, Christina Chakarova, Shom S. Bhattacharya, Francisco J. Díaz-Corrales
Mol Med. 2020; 26: 1. Published online 2019 Dec 31. doi: 10.1186/s10020-019-0124-z
PMCID:
PMC6938640
AbstractArticlePDF–8.3M
3.
Formation of 53BP1 foci and ATM activation under oxidative stress is facilitated by RNA:DNA hybrids and loss of ATM-53BP1 expression promotes photoreceptor cell survival in mice
Vaibhav Bhatia, Lourdes Valdés-Sánchez, Daniel Rodriguez-Martinez, Shom Shankar Bhattacharya
Version 1. F1000Res. 2018; 7: 1233. Published online 2018 Aug 10. doi: 10.12688/f1000research.15579.1
PMCID:
PMC6171737
AbstractArticlePDF–8.0M
4.
Mutations in Pre-mRNA Processing Factors 3, 8, and 31 Cause Dysfunction of the Retinal Pigment Epithelium
Michael H. Farkas, Deborah S. Lew, Maria E. Sousa, Kinga Bujakowska, Jonathan Chatagnon, Shomi S. Bhattacharya, Eric A. Pierce, Emeline F. Nandrot
Am J Pathol. 2014 Oct; 184(10): 2641–2652. doi: 10.1016/j.ajpath.2014.06.026
PMCID:
PMC4188860
AbstractArticlePDF–2.2M
5.
Three Gene-Targeted Mouse Models of RNA Splicing Factor RP Show Late-Onset RPE and Retinal Degeneration
John J. Graziotto, Michael H. Farkas, Kinga Bujakowska, Bertrand M. Deramaudt, Qi Zhang, Emeline F. Nandrot, Chris F. Inglehearn, Shomi S. Bhattacharya, Eric A. Pierce
Invest Ophthalmol Vis Sci. 2011 Jan; 52(1): 190–198. Published online 2011 Jan 5. doi: 10.1167/iovs.10-5194
PMCID:
PMC3053274
AbstractArticlePDF–3.3M
6.
Mutations in PRPF31 Inhibit Pre-mRNA Splicing of Rhodopsin Gene and Cause Apoptosis of Retinal Cells
Liya Yuan, Mariko Kawada, Necat Havlioglu, Hao Tang, Jane Y. Wu
J Neurosci. 2005 Jan 19; 25(3): 748–757. doi: 10.1523/JNEUROSCI.2399-04.2005
PMCID:
PMC2149905
AbstractArticlePDF–403K
7.
Protein 61K, encoded by a gene (PRPF31) linked to autosomal dominant retinitis pigmentosa, is required for U4/U6·U5 tri-snRNP formation and pre-mRNA splicing
Olga V. Makarova, Evgeny M. Makarov, Sunbin Liu, Hans-Peter Vornlocher, Reinhard Lührmann
EMBO J. 2002 Mar 1; 21(5): 1148–1157. doi: 10.1093/emboj/21.5.1148
PMCID:
PMC125353
AbstractArticlePDF–346K
8.
Temporal and Tissue Specific Regulation of RP-Associated Splicing Factor Genes PRPF3, PRPF31 and PRPC8—Implications in the Pathogenesis of RP
Huibi Cao, Jing Wu, Simon Lam, Rongqi Duan, Catherine Newnham, Robert S. Molday, John J. Graziotto, Eric A. Pierce, Jim Hu
PLoS One. 2011; 6(1): e15860. Published online 2011 Jan 19. doi: 10.1371/journal.pone.0015860
PMCID:
PMC3023711
AbstractArticlePDF–2.7M
9.
CTNNBL1 Is a Novel Nuclear Localization Sequence-binding Protein That Recognizes RNA-splicing Factors CDC5L and Prp31
Karuna Ganesh, Salome Adam, Benjamin Taylor, Paul Simpson, Cristina Rada, Michael Neuberger
J Biol Chem. 2011 May 13; 286(19): 17091–17102. Published online 2011 Mar 8. doi: 10.1074/jbc.M110.208769
PMCID:
PMC3089553
AbstractArticlePDF–3.1M
10.
Mice deficient in UXT exhibit retinitis pigmentosa-like features via aberrant autophagy activation
Mingyu Pan, Yue Yin, Xinxia Wang, Quanyi Wang, Lele Zhang, Haiyang Hu, Chen Wang
Autophagy. 2021; 17(8): 1873–1888. Published online 2020 Aug 2. doi: 10.1080/15548627.2020.1796015
PMCID:
PMC8386600
AbstractArticlePDF–8.5M
11.
Biochemical and Phosphoproteomic Analysis of the Helix-Loop-Helix Protein E47
Robert Teachenor, Kristina Beck, Lilyan Y. T. Wright, Zhouxin Shen, Steven P. Briggs, Cornelis Murre
Mol Cell Biol. 2012 May; 32(9): 1671–1682. doi: 10.1128/MCB.06452-11
PMCID:
PMC3347234
AbstractArticlePDF–2.0M
12.
Fancd2 in vivo interaction network reveals a non-canonical role in mitochondrial function
Tingting Zhang, Wei Du, Andrew F. Wilson, Satoshi H. Namekawa, Paul R. Andreassen, Amom Ruhikanta Meetei, Qishen Pang
Sci Rep. 2017; 7: 45626. Published online 2017 Apr 5. doi: 10.1038/srep45626
PMCID:
PMC5381226
AbstractArticlePDF–1.4M
13.
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
14.
BraInMap elucidates the macromolecular connectivity landscape of mammalian brain
Reza Pourhaghighi, Peter E. A. Ash, Sadhna Phanse, Florian Goebels, Lucas Z. M. Hu, Siwei Chen, Yingying Zhang, Shayne D. Wierbowski, Samantha Boudeau, Mohamed T. Moutaoufik, Ramy H. Malty, Edyta Malolepsza, Kalliopi Tsafou, Aparna Nathan, Graham Cromar, Hongbo Guo, Ali Al Abdullatif, Daniel J. Apicco, Lindsay A. Becker, Aaron D. Gitler, Stefan M. Pulst, Ahmed Youssef, Ryan Hekman, Pierre C. Havugimana, Carl A. White, Benjamin C. Blum, Antonia Ratti, Camron D. Bryant, John Parkinson, Kasper Lage, Mohan Babu, Haiyuan Yu, Gary D. Bader, Benjamin Wolozin, Andrew Emili
Cell Syst. Author manuscript; available in PMC 2021 Apr 22.
Published in final edited form as: Cell Syst. 2020 Apr 22; 10(4): 333–350.e14. doi: 10.1016/j.cels.2020.03.003
Correction in:
Cell Syst. 2020 Aug 26; 11(2): 208.
PMCID:
PMC7938770
AbstractArticlePDF–2.0M
15.
Genome-wide expression profiling of mid-gestation placenta and embryo using a 15,000 mouse developmental cDNA microarray
Tetsuya S. Tanaka, Saied A. Jaradat, Meng K. Lim, George J. Kargul, Xiaohong Wang, Marija J. Grahovac, Serafino Pantano, Yuri Sano, Yulan Piao, Ramaiah Nagaraja, Hirofumi Doi, William H. Wood, III, Kevin G. Becker, Minoru S. H. Ko
Proc Natl Acad Sci U S A. 2000 Aug 1; 97(16): 9127–9132. doi: 10.1073/pnas.97.16.9127
PMCID:
PMC16833
AbstractArticlePDF–847K
16.
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells
Gwenn M. Hansen, Diane C. Markesich, Michael B. Burnett, Qichao Zhu, Karen M. Dionne, Lizabeth J. Richter, Richard H. Finnell, Arthur T. Sands, Brian P. Zambrowicz, Alejandro Abuin
Genome Res. 2008 Oct; 18(10): 1670–1679. doi: 10.1101/gr.078352.108
PMCID:
PMC2556270
AbstractArticlePDF–493K
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.
A High-Resolution Anatomical Atlas of the Transcriptome in the Mouse Embryo
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A. Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N. Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A. Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R. Davidson, Pascal Dollé, Stylianos E. Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A. Baldock, Gregor Eichele, Andrea Ballabio
PLoS Biol. 2011 Jan; 9(1): e1000582. Published online 2011 Jan 18. doi: 10.1371/journal.pbio.1000582
PMCID:
PMC3022534
AbstractArticlePDF–3.8M

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