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Items: 1 to 20 of 30

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.
ELAC2 Functions as a Key Gene in the Early Development of Placental Formation Based on WGCNA
Junyong Liang, Jingjie Liang, Qiang Tan, Zhengguang Wang
Cells. 2023 Feb; 12(4): 613. Published online 2023 Feb 14. doi: 10.3390/cells12040613
PMCID:
PMC9954566
AbstractArticlePDF–4.8M
3.
Neurodegeneration with brain iron accumulation
SUSAN J. HAYFLICK, MANJU A. KURIAN, PENELOPE HOGARTH
Handb Clin Neurol. Author manuscript; available in PMC 2021 Jun 26.
Published in final edited form as: Handb Clin Neurol. 2018; 147: 293–305. doi: 10.1016/B978-0-444-63233-3.00019-1
PMCID:
PMC8235601
AbstractArticlePDF–695K
4.
BioID screening of biotinylation sites using the avidin-like protein Tamavidin 2-REV identifies global interactors of stimulator of interferon genes (STING)
Kou Motani, Hidetaka Kosako
J Biol Chem. 2020 Aug 7; 295(32): 11174–11183. Published online 2020 Jun 17. doi: 10.1074/jbc.RA120.014323
PMCID:
PMC7415991
AbstractArticlePDF–2.0M
5.
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
6.
Short-lived AUF1 p42-binding mRNAs of RANKL and BCL6 have two distinct instability elements each
Afzal M. Dogar, Ramona Pauchard-Batschulat, Barbara Grisoni-Neupert, Larry Richman, Alexandra Paillusson, Sylvain Pradervand, Otto Hagenbüchle, Giovanna Ambrosini, Christoph D. Schmid, Philipp Bucher, Lukas C. Kühn
PLoS One. 2018; 13(11): e0206823. Published online 2018 Nov 12. doi: 10.1371/journal.pone.0206823
PMCID:
PMC6231638
AbstractArticlePDF–3.8M
7.
A therapeutic approach to pantothenate kinase associated neurodegeneration
Lalit Kumar Sharma, Chitra Subramanian, Mi-Kyung Yun, Matthew W. Frank, Stephen W. White, Charles O. Rock, Richard E. Lee, Suzanne Jackowski
Nat Commun. 2018; 9: 4399. Published online 2018 Oct 23. doi: 10.1038/s41467-018-06703-2
PMCID:
PMC6199309
AbstractArticlePDF–2.5M
8.
Excess Coenzyme A Reduces Skeletal Muscle Performance and Strength in Mice Overexpressing Human PANK2
Deborah R. Corbin, Jerold E. Rehg, Danielle L. Shepherd, Peter Stoilov, Ryan J. Percifield, Linda Horner, Sharon Frase, Yong-Mei Zhang, Charles O. Rock, John M. Hollander, Suzanne Jackowski, Roberta Leonardi
Mol Genet Metab. Author manuscript; available in PMC 2018 Apr 1.
Published in final edited form as: Mol Genet Metab. 2017 Apr; 120(4): 350–362. Published online 2017 Feb 3. doi: 10.1016/j.ymgme.2017.02.001
PMCID:
PMC5382100
AbstractArticlePDF–1.6M
9.
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model
Dario Brunetti, Sabrina Dusi, Carla Giordano, Costanza Lamperti, Michela Morbin, Valeria Fugnanesi, Silvia Marchet, Gigliola Fagiolari, Ody Sibon, Maurizio Moggio, Giulia d’Amati, Valeria Tiranti
Brain. 2014 Jan; 137(1): 57–68. Published online 2013 Dec 6. doi: 10.1093/brain/awt325
PMCID:
PMC3891449
AbstractArticlePDF–1.7M
10.
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
11.
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model
Dario Brunetti, Sabrina Dusi, Michela Morbin, Andrea Uggetti, Fabio Moda, Ilaria D'Amato, Carla Giordano, Giulia d'Amati, Anna Cozzi, Sonia Levi, Susan Hayflick, Valeria Tiranti
Hum Mol Genet. 2012 Dec 15; 21(24): 5294–5305. Published online 2012 Sep 13. doi: 10.1093/hmg/dds380
PMCID:
PMC3510755
AbstractArticlePDF–561K
12.
Compartmentalization of Mammalian Pantothenate Kinases
Adolfo Alfonso-Pecchio, Matthew Garcia, Roberta Leonardi, Suzanne Jackowski
PLoS One. 2012; 7(11): e49509. Published online 2012 Nov 13. doi: 10.1371/journal.pone.0049509
PMCID:
PMC3496714
AbstractArticlePDF–4.5M
13.
Ptbp2 represses adult-specific splicing to regulate the generation of neuronal precursors in the embryonic brain
Donny D. Licatalosi, Masato Yano, John J. Fak, Aldo Mele, Sarah E. Grabinski, Chaolin Zhang, Robert B. Darnell
Genes Dev. 2012 Jul 15; 26(14): 1626–1642. doi: 10.1101/gad.191338.112
PMCID:
PMC3404389
AbstractArticlePDF–3.4M
14.
Germline Deletion of Pantothenate Kinases 1 and 2 Reveals the Key Roles for CoA in Postnatal Metabolism
Matthew Garcia, Roberta Leonardi, Yong-Mei Zhang, Jerold E. Rehg, Suzanne Jackowski
PLoS One. 2012; 7(7): e40871. Published online 2012 Jul 17. doi: 10.1371/journal.pone.0040871
PMCID:
PMC3398950
AbstractArticlePDF–791K
15.
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
16.
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
17.
A mitochondrial protein compendium elucidates complex I disease biology
David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha
Cell. Author manuscript; available in PMC 2009 Nov 18.
Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016
PMCID:
PMC2778844
AbstractArticlePDF–1.2M
18.
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
19.
Deficiency of pantothenate kinase 2 (Pank2) in mice leads to retinal degeneration and azoospermia
Yien-Ming Kuo, Jacque L. Duncan, Shawn K. Westaway, Haidong Yang, George Nune, Eugene Yujun Xu, Susan J. Hayflick, Jane Gitschier
Hum Mol Genet. Author manuscript; available in PMC 2007 Dec 5.
Published in final edited form as: Hum Mol Genet. 2005 Jan 1; 14(1): 49–57. Published online 2004 Nov 3. doi: 10.1093/hmg/ddi005
PMCID:
PMC2117329
AbstractArticlePDF–1.0M
20.
Localization and Regulation of Mouse Pantothenate Kinase 2
Roberta Leonardi, Yong-Mei Zhang, Athanasios Lykidis, Charles O. Rock, Suzanne Jackowski
FEBS Lett. Author manuscript; available in PMC 2007 Oct 17.
Published in final edited form as: FEBS Lett. 2007 Oct 2; 581(24): 4639–4644. Published online 2007 Sep 7. doi: 10.1016/j.febslet.2007.08.056
PMCID:
PMC2034339
AbstractArticlePDF–800K

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