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Items: 20

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.
Influence of data sampling methods on the representation of neural spiking activity in vivo
Meike E. van der Heijden, Amanda M. Brown, Roy V. Sillitoe
iScience. 2022 Nov 18; 25(11): 105429. Published online 2022 Oct 22. doi: 10.1016/j.isci.2022.105429
PMCID:
PMC9641233
AbstractArticlePDF–5.2M
3.
The Dystonia Gene THAP1 Controls DNA Double Strand Break Repair Choice
Kenta Shinoda, Dali Zong, Elsa Callen, Wei Wu, Lavinia C. Dumitrache, Frida Belinky, Raj Chari, Nancy Wong, Momoko Ishikawa, Andre Stanlie, Trisha Multhaupt-Buell, Nutan Sharma, Laurie Ozelius, Michelle Ehrlich, Peter J. McKinnon, Andre Nussenzweig
Mol Cell. Author manuscript; available in PMC 2022 Jun 17.
Published in final edited form as: Mol Cell. 2021 Jun 17; 81(12): 2611–2624.e10. Published online 2021 Apr 14. doi: 10.1016/j.molcel.2021.03.034
PMCID:
PMC8985095
AbstractArticlePDF–2.1M
4.
Pharmacological perturbation reveals deficits in D2 receptor responses in Thap1 null mice
Natalie M. Frederick, Morgan M. Pooler, Parth Shah, Alessandro Didonna, Puneet Opal
Ann Clin Transl Neurol. 2021 Dec; 8(12): 2302–2308. Published online 2021 Nov 21. doi: 10.1002/acn3.51481
PMCID:
PMC8670318
AbstractArticlePDF–484K
5.
Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin
Aloysius Domingo, Rachita Yadav, Shivangi Shah, William T. Hendriks, Serkan Erdin, Dadi Gao, Kathryn O’Keefe, Benjamin Currall, James F. Gusella, Nutan Sharma, Laurie J. Ozelius, Michelle E. Ehrlich, Michael E. Talkowski, D. Cristopher Bragg
Am J Hum Genet. 2021 Nov 4; 108(11): 2145–2158. Published online 2021 Oct 20. doi: 10.1016/j.ajhg.2021.09.017
PMCID:
PMC8595948
AbstractArticlePDF–1.6M
6.
Abnormal cerebellar function and tremor in a mouse model for non-manifesting DYT6
Meike E. van der Heijden, Dominic J. Kizek, Ross Perez, Elena K. Ruff, Michelle E. Ehrlich, Roy V. Sillitoe
J Physiol. Author manuscript; available in PMC 2022 Apr 1.
Published in final edited form as: J Physiol. 2021 Apr; 599(7): 2037–2054. Published online 2021 Jan 9. doi: 10.1113/JP280978
PMCID:
PMC8559601
AbstractArticlePDF–1.3M
7.
Diverse Mechanisms Lead to Common Dysfunction of Striatal Cholinergic Interneurons in Distinct Genetic Mouse Models of Dystonia
Karen L. Eskow Jaunarajs, Mariangela Scarduzio, Michelle E. Ehrlich, Lori L. McMahon, David G. Standaert
J Neurosci. 2019 Sep 4; 39(36): 7195–7205. doi: 10.1523/JNEUROSCI.0407-19.2019
PMCID:
PMC6733543
AbstractArticlePDF–611K
8.
Loss of the dystonia gene Thap1 leads to transcriptional deficits that converge on common pathogenic pathways in dystonic syndromes
Natalie M Frederick, Parth V Shah, Alessandro Didonna, Monica R Langley, Anumantha G Kanthasamy, Puneet Opal
Hum Mol Genet. 2019 Apr 15; 28(8): 1343–1356. Published online 2018 Dec 26. doi: 10.1093/hmg/ddy433
PMCID:
PMC6452194
AbstractArticlePDF–50M
9.
The DYT6 Dystonia Protein THAP1 Regulates Myelination Within The Oligodendrocyte Lineage
Dhananjay Yellajoshyula, Chun-Chi Liang, Samuel S. Pappas, Silvia Penati, Angela Yang, Rodan Mecano, Ravindran Kumaran, Stephanie Jou, Mark R. Cookson, William T. Dauer
Dev Cell. Author manuscript; available in PMC 2018 Jul 10.
Published in final edited form as: Dev Cell. 2017 Jul 10; 42(1): 52–67.e4. doi: 10.1016/j.devcel.2017.06.009
PMCID:
PMC5847273
AbstractArticlePDF–3.0M
10.
Mutations in THAP1/DYT6 reveal that diverse dystonia genes disrupt similar neuronal pathways and functions
Zuchra Zakirova, Tomas Fanutza, Justine Bonet, Ben Readhead, Weijia Zhang, Zhengzi Yi, Genevieve Beauvais, Thomas P. Zwaka, Laurie J. Ozelius, Robert D. Blitzer, Pedro Gonzalez-Alegre, Michelle E. Ehrlich
PLoS Genet. 2018 Jan; 14(1): e1007169. Published online 2018 Jan 24. doi: 10.1371/journal.pgen.1007169
PMCID:
PMC5798844
AbstractArticlePDF–8.4M
11.
THAP1: Role in Mouse Embryonic Stem Cell Survival and Differentiation
Francesca Aguilo, Zuchra Zakirova, Katie Nolan, Ryan Wagner, Rajal Sharma, Megan Hogan, Chengguo Wei, Yifei Sun, Martin J. Walsh, Kevin Kelley, Weijia Zhang, Laurie J. Ozelius, Pedro Gonzalez-Alegre, Thomas P. Zwaka, Michelle E. Ehrlich
Stem Cell Reports. 2017 Jul 11; 9(1): 92–107. Published online 2017 Jun 1. doi: 10.1016/j.stemcr.2017.04.032
PMCID:
PMC5511047
AbstractArticlePDF–2.4M
12.
Abnormalities of motor function, transcription and cerebellar structure in mouse models of THAP1 dystonia
Marta Ruiz, Georgina Perez-Garcia, Maitane Ortiz-Virumbrales, Aurelie Méneret, Andrika Morant, Jessica Kottwitz, Tania Fuchs, Justine Bonet, Pedro Gonzalez-Alegre, Patrick R. Hof, Laurie J. Ozelius, Michelle E. Ehrlich
Hum Mol Genet. 2015 Dec 20; 24(25): 7159–7170. Published online 2015 Sep 16. doi: 10.1093/hmg/ddv384
PMCID:
PMC4757965
AbstractArticlePDF–840K
13.
Spatiotemporal regulation of GLI target genes in the mammalian limb bud
Jordan P. Lewandowski, Fang Du, Shilu Zhang, Marian B. Powell, Kristin N. Falkenstein, Hongkai Ji, Steven A. Vokes
Dev Biol. Author manuscript; available in PMC 2016 Oct 1.
Published in final edited form as: Dev Biol. 2015 Oct 1; 406(1): 92–103. Published online 2015 Jul 31. doi: 10.1016/j.ydbio.2015.07.022
PMCID:
PMC4587286
AbstractArticlePDF–2.0M
14.
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
15.
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
16.
RIKEN Integrated Sequence Analysis (RISA) System—384-Format Sequencing Pipeline with 384 Multicapillary Sequencer
Kazuhiro Shibata, Masayoshi Itoh, Katsunori Aizawa, Sumiharu Nagaoka, Nobuya Sasaki, Piero Carninci, Hideaki Konno, Junichi Akiyama, Katsuo Nishi, Tokuji Kitsunai, Hideo Tashiro, Mari Itoh, Noriko Sumi, Yoshiyuki Ishii, Shin Nakamura, Makoto Hazama, Tsutomu Nishine, Akira Harada, Rintaro Yamamoto, Hiroyuki Matsumoto, Sumito Sakaguchi, Takashi Ikegami, Katsuya Kashiwagi, Syuji Fujiwake, Kouji Inoue, Yoshiyuki Togawa, Masaki Izawa, Eiji Ohara, Masanori Watahiki, Yuko Yoneda, Tomokazu Ishikawa, Kaori Ozawa, Takumi Tanaka, Shuji Matsuura, Jun Kawai, Yasushi Okazaki, Masami Muramatsu, Yorinao Inoue, Akira Kira, Yoshihide Hayashizaki
Genome Res. 2000 Nov; 10(11): 1757–1771. doi: 10.1101/gr.152600
PMCID:
PMC310992
AbstractArticlePDF–3.4M
17.
Normalization and Subtraction of Cap-Trapper-Selected cDNAs to Prepare Full-Length cDNA Libraries for Rapid Discovery of New Genes
Piero Carninci, Yuko Shibata, Norihito Hayatsu, Yuichi Sugahara, Kazuhiro Shibata, Masayoshi Itoh, Hideaki Konno, Yasushi Okazaki, Masami Muramatsu, Yoshihide Hayashizaki
Genome Res. 2000 Oct; 10(10): 1617–1630. doi: 10.1101/gr.145100
PMCID:
PMC310980
AbstractArticlePDF–1.4M
18.
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
19.
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells
Doug Stryke, Michiko Kawamoto, Conrad C. Huang, Susan J. Johns, Leslie A. King, Courtney A. Harper, Elaine C. Meng, Roy E. Lee, Alice Yee, Larry L'Italien, Pao-Tien Chuang, Stephen G. Young, William C. Skarnes, Patricia C. Babbitt, Thomas E. Ferrin
Nucleic Acids Res. 2003 Jan 1; 31(1): 278–281. doi: 10.1093/nar/gkg064
PMCID:
PMC165511
AbstractArticlePDF–217K
20.
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

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