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Items: 18

1.
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
2.
A crystallin mutant cataract with mineral deposits
Peter J. Minogue, Junyuan Gao, Richard T. Mathias, James C. Williams, Jr., Sharon B. Bledsoe, Andre J. Sommer, Eric C. Beyer, Viviana M. Berthoud
J Biol Chem. 2023 Aug; 299(8): 104935. Published online 2023 Jun 17. doi: 10.1016/j.jbc.2023.104935
PMCID:
PMC10407958
AbstractArticlePDF–9.1M
3.
The Deubiquitinating Enzyme USP48 Interacts with the Retinal Degeneration-Associated Proteins UNC119a and ARL3
Laura Sánchez-Bellver, Andrea Férriz-Gordillo, Marc Carrillo-Pz, Laura Rabanal, Francesc R. Garcia-Gonzalo, Gemma Marfany
Int J Mol Sci. 2022 Oct; 23(20): 12527. Published online 2022 Oct 19. doi: 10.3390/ijms232012527
PMCID:
PMC9603860
AbstractArticlePDF–3.4M
4.
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
5.
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
6.
Transcription factor GATA-3 is essential for lens development
Atsuko Maeda, Takashi Moriguchi, Michito Hamada, Manabu Kusakabe, Yuki Fujioka, Takako Nakano, Keigyou Yoh, Kim-Chew Lim, James Douglas Engel, Satoru Takahashi
Dev Dyn. Author manuscript; available in PMC 2012 Jul 30.
Published in final edited form as: Dev Dyn. 2009 Sep; 238(9): 2280–2291. doi: 10.1002/dvdy.22035
PMCID:
PMC3408506
AbstractArticlePDF–4.9M
7.
Mutations in the RNA Granule Component TDRD7 Cause Cataract and Glaucoma
Salil A. Lachke, Fowzan S. Alkuraya, Stephen C. Kneeland, Takbum Ohn, Anton Aboukhalil, Gareth R. Howell, Irfan Saadi, Resy Cavallesco, Yingzi Yue, Anne C-H. Tsai, K. Saidas Nair, Mihai I. Cosma, Richard S. Smith, Emily Hodges, Suad M. AlFadhli, Amal Al-Hajeri, Hanan E. Shamseldin, AbdulMutalib Behbehani, Gregory J. Hannon, Martha L. Bulyk, Arlene V. Drack, Paul J. Anderson, Simon W. M. John, Richard L. Maas
Science. Author manuscript; available in PMC 2012 Feb 14.
Published in final edited form as: Science. 2011 Mar 25; 331(6024): 1571–1576. doi: 10.1126/science.1195970
PMCID:
PMC3279122
AbstractArticlePDF–2.6M
8.
The Orchestration of Mammalian Tissue Morphogenesis through a Series of Coherent Feed-forward Loops
Qing Xie, Ales Cvekl
J Biol Chem. 2011 Dec 16; 286(50): 43259–43271. Published online 2011 Oct 13. doi: 10.1074/jbc.M111.264580
PMCID:
PMC3234836
AbstractArticlePDF–3.9M
9.
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
10.
Evaluation of three canine γ-crystallins (CRYGB, CRYGC, and CRYGS) as candidates for hereditary cataracts in the dachshund
Christina Müller, Anne Wöhlke, Ottmar Distl
Mol Vis. 2007; 13: 125–132. Published online 2007 Jan 31.
PMCID:
PMC2533037
AbstractArticlePDF–310K
11.
Biophysical Properties of γC-Crystallin in Human and Mouse Eye Lens: The Role of Molecular Dipoles
Andrew G. Purkiss, Orval A. Bateman, Keith Wyatt, Phillip A. Wilmarth, Larry L. David, Graeme J. Wistow, Christine Slingsby
J Mol Biol. Author manuscript; available in PMC 2008 Sep 7.
Published in final edited form as: J Mol Biol. 2007 Sep 7; 372(1): 205–222. Published online 2007 Jun 26. doi: 10.1016/j.jmb.2007.06.049
PMCID:
PMC2034304
AbstractArticlePDF–2.5M
12.
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
13.
HSF4 is required for normal cell growth and differentiation during mouse lens development
Mitsuaki Fujimoto, Hanae Izu, Keisuke Seki, Ken Fukuda, Teruo Nishida, Shu-ichi Yamada, Kanefusa Kato, Shigenobu Yonemura, Sachiye Inouye, Akira Nakai
EMBO J. 2004 Oct 27; 23(21): 4297–4306. Published online 2004 Oct 14. doi: 10.1038/sj.emboj.7600435
PMCID:
PMC524399
AbstractArticlePDF–399K
14.
Sox1 directly regulates the γ-crystallin genes and is essential for lens development in mice
Seiji Nishiguchi, Heather Wood, Hisato Kondoh, Robin Lovell-Badge, Vasso Episkopou
Genes Dev. 1998 Mar 15; 12(6): 776–781. doi: 10.1101/gad.12.6.776
PMCID:
PMC316632
AbstractArticlePDF–455K
15.
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
16.
Multiple Developmental Defects Derived from Impaired Recruitment of ASC-2 to Nuclear Receptors in Mice: Implication for Posterior Lenticonus with Cataract
Seung-Whan Kim, Cheolho Cheong, Young-Chang Sohn, Young-Hwa Goo, Wan Je Oh, Jung Hwan Park, So Young Joe, Hyen-Sam Kang, Duk-Kyung Kim, Changwon Kee, Jae Woon Lee, Han-Woong Lee
Mol Cell Biol. 2002 Dec; 22(24): 8409–8414. doi: 10.1128/MCB.22.24.8409-8414.2002
PMCID:
PMC139866
AbstractArticlePDF–324K
17.
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences
Mammalian Gene Collection (MGC) Program Team
Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899
PMCID:
PMC139241
AbstractArticlePDF–118K
18.
Altered aggregation properties of mutant γ-crystallins cause inherited cataract
Aileen Sandilands, Aileen M. Hutcheson, Heather A. Long, Alan R. Prescott, Gijs Vrensen, Jana Löster, Norman Klopp, Raimund B. Lutz, Jochen Graw, Shigeo Masaki, Christopher M. Dobson, Cait E. MacPhee, Roy A. Quinlan
EMBO J. 2002 Nov 15; 21(22): 6005–6014. doi: 10.1093/emboj/cdf609
PMCID:
PMC137201
AbstractArticlePDF–432K

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