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Items: 1 to 20 of 31

1.
Knockout mice with pituitary malformations help identify human cases of hypopituitarism
Julian Martinez-Mayer, Michelle L. Brinkmeier, Sean P. O’Connell, Arnold Ukagwu, Marcelo A. Marti, Mirta Miras, Maria V. Forclaz, Maria G. Benzrihen, Leonard Y. M. Cheung, Sally A. Camper, Buffy S. Ellsworth, Lori T. Raetzman, Maria I. Pérez-Millán, Shannon W. Davis
Genome Med. 2024; 16: 75. Published online 2024 May 31. doi: 10.1186/s13073-024-01347-y
PMCID:
PMC11140907
AbstractArticlePDF–4.4M
2.
Mitochondrial FAD shortage in SLC25A32 deficiency affects folate-mediated one-carbon metabolism
Min-Zhi Peng, Yong-Xian Shao, Xiu-Zhen Li, Kang-Di Zhang, Yan-Na Cai, Yun-Ting Lin, Min-Yan Jiang, Zong-Cai Liu, Xue-Ying Su, Wen Zhang, Xiao-Ling Jiang, Li Liu
Cell Mol Life Sci. 2022 Jul; 79(7): 375. Published online 2022 Jun 21. doi: 10.1007/s00018-022-04404-0
PMCID:
PMC11072207
AbstractArticlePDF–6.8M
3.
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
4.
The interactome of CLUH reveals its association to SPAG5 and its co-translational proximity to mitochondrial proteins
Mickaële Hémono, Alexandre Haller, Johana Chicher, Anne-Marie Duchêne, Richard Patryk Ngondo
BMC Biol. 2022; 20: 13. Published online 2022 Jan 10. doi: 10.1186/s12915-021-01213-y
PMCID:
PMC8744257
AbstractArticlePDF–6.0M
5.
Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia
Kit‐Yi Leung, Sandra C. P. De Castro, Chloe Santos, Dawn Savery, Helen Prunty, Diana Gold‐Diaz, Stuart Bennett, Simon Heales, Andrew J. Copp, Nicholas D. E. Greene
J Inherit Metab Dis. 2020 Nov; 43(6): 1186–1198. Published online 2020 Aug 11. doi: 10.1002/jimd.12295
PMCID:
PMC8436753
AbstractArticlePDF–4.2M
6.
Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development
Francesco Bedogni, Robert F. Hevner
Front Mol Neurosci. 2021; 14: 686034. Published online 2021 Jul 12. doi: 10.3389/fnmol.2021.686034
PMCID:
PMC8313239
AbstractArticlePDF–1.6M
7.
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
8.
Glycine Cleavage System H Protein Is Essential for Embryonic Viability, Implying Additional Function Beyond the Glycine Cleavage System
Kit-Yi Leung, Sandra C. P. De Castro, Gabriel L. Galea, Andrew J. Copp, Nicholas D. E. Greene
Front Genet. 2021; 12: 625120. Published online 2021 Jan 25. doi: 10.3389/fgene.2021.625120
PMCID:
PMC7868403
AbstractArticlePDF–3.0M
9.
Genomic analyses of glycine decarboxylase neurogenic mutations yield a large-scale prediction model for prenatal disease
Joseph Farris, Md Suhail Alam, Arpitha Mysore Rajashekara, Kasturi Haldar
PLoS Genet. 2021 Feb; 17(2): e1009307. Published online 2021 Feb 1. doi: 10.1371/journal.pgen.1009307
PMCID:
PMC7850488
AbstractArticlePDF–4.8M
10.
Impaired folate 1-carbon metabolism causes formate-preventable hydrocephalus in glycine decarboxylase–deficient mice
Chloe Santos, Yun Jin Pai, M. Raasib Mahmood, Kit-Yi Leung, Dawn Savery, Simon N. Waddington, Andrew J. Copp, Nicholas D.E. Greene
J Clin Invest. 2020 Mar 2; 130(3): 1446–1452. Published online 2020 Feb 4. doi: 10.1172/JCI132360
PMCID:
PMC7269562
AbstractArticlePDF–4.5M
11.
Mouse screen reveals multiple new genes underlying mouse and human hearing loss
Neil J. Ingham, Selina A. Pearson, Valerie E. Vancollie, Victoria Rook, Morag A. Lewis, Jing Chen, Annalisa Buniello, Elisa Martelletti, Lorenzo Preite, Chi Chung Lam, Felix D. Weiss, Zӧe Powis, Pim Suwannarat, Christopher J. Lelliott, Sally J. Dawson, Jacqueline K. White, Karen P. Steel
PLoS Biol. 2019 Apr; 17(4): e3000194. Published online 2019 Apr 11. doi: 10.1371/journal.pbio.3000194
PMCID:
PMC6459510
AbstractArticlePDF–5.1M
12.
Partitioning of One-Carbon Units in Folate and Methionine Metabolism Is Essential for Neural Tube Closure
Kit-Yi Leung, Yun Jin Pai, Qiuying Chen, Chloe Santos, Enrica Calvani, Sonia Sudiwala, Dawn Savery, Markus Ralser, Steven S. Gross, Andrew J. Copp, Nicholas D.E. Greene
Cell Rep. 2017 Nov 14; 21(7): 1795–1808. Published online 2017 Nov 14. doi: 10.1016/j.celrep.2017.10.072
PMCID:
PMC5699646
AbstractArticle
13.
Use of high‐frequency ultrasound to study the prenatal development of cranial neural tube defects and hydrocephalus in Gldc‐deficient mice
Maria C. Autuori, Yun J. Pai, Daniel J. Stuckey, Dawn Savery, Anna M. Marconi, Valentina Massa, Mark F. Lythgoe, Andrew J. Copp, Anna L. David, Nicholas D.E. Greene
Prenat Diagn. 2017 Mar; 37(3): 273–281. Published online 2017 Feb 17. doi: 10.1002/pd.5004
PMCID:
PMC5347903
AbstractArticlePDF–913K
14.
Mitochondrial protein interactome elucidated by chemical cross-linking mass spectrometry
Devin K. Schweppe, Juan D. Chavez, Chi Fung Lee, Arianne Caudal, Shane E. Kruse, Rudy Stuppard, David J. Marcinek, Gerald S. Shadel, Rong Tian, James E. Bruce
Proc Natl Acad Sci U S A. 2017 Feb 14; 114(7): 1732–1737. Published online 2017 Jan 27. doi: 10.1073/pnas.1617220114
PMCID:
PMC5321032
AbstractArticlePDF–1.1M
15.
Global genetic analysis in mice unveils central role for cilia in congenital heart disease
You Li, Nikolai T. Klena, George C Gabriel, Xiaoqin Liu, Andrew J. Kim, Kristi Lemke, Yu Chen, Bishwanath Chatterjee, William Devine, Rama Rao Damerla, Chien-fu Chang, Hisato Yagi, Jovenal T. San Agustin, Mohamed Thahir, Shane Anderton, Caroline Lawhead, Anita Vescovi, Herbert Pratt, Judy Morgan, Leslie Haynes, Cynthia L. Smith, Janan T. Eppig, Laura Reinholdt, Richard Francis, Linda Leatherbury, Madhavi K. Ganapathiraju, Kimimasa Tobita, Gregory J. Pazour, Cecilia W. Lo
Nature. Author manuscript; available in PMC 2015 Nov 28.
Published in final edited form as: Nature. 2015 May 28; 521(7553): 520–524. Published online 2015 Mar 25. doi: 10.1038/nature14269
PMCID:
PMC4617540
AbstractArticlePDF–518K
16.
Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice
Yun Jin Pai, Kit-Yi Leung, Dawn Savery, Tim Hutchin, Helen Prunty, Simon Heales, Margaret E. Brosnan, John T. Brosnan, Andrew J. Copp, Nicholas D.E. Greene
Nat Commun. 2015 Mar 4; 6: 6388. Published online 2015 Mar 4. doi: 10.1038/ncomms7388
PMCID:
PMC4366506
AbstractArticlePDF–1.2M
17.
The Central Role of EED in the Orchestration of Polycomb Group Complexes
Qi Cao, Xiaoju Wang, Meng Zhao, Rendong Yang, Rohit Malik, Yuanyuan Qiao, Anton Poliakov, Anastasia K. Yocum, Yong Li, Wei Chen, Xuhong Cao, Xia Jiang, Arun Dahiya, Clair Harris, Felix Y. Feng, Sundeep Kalantry, Zhaohui S. Qin, Saravana M. Dhanasekaran, Arul M. Chinnaiyan
Nat Commun. Author manuscript; available in PMC 2014 Jul 24.
Published in final edited form as: Nat Commun. 2014; 5: 3127. doi: 10.1038/ncomms4127
PMCID:
PMC4073494
AbstractArticlePDF–2.1M
18.
Conserved molecular signatures of neurogenesis in the hippocampal subgranular zone of rodents and primates
Jeremy A. Miller, Jason Nathanson, Daniel Franjic, Sungbo Shim, Rachel A. Dalley, Sheila Shapouri, Kimberly A. Smith, Susan M. Sunkin, Amy Bernard, Jeffrey L. Bennett, Chang-Kyu Lee, Michael J. Hawrylycz, Allan R. Jones, David G. Amaral, Nenad Sestan, Fred H. Gage, Ed S. Lein
Development. 2013 Nov 15; 140(22): 4633–4644. doi: 10.1242/dev.097212
PMCID:
PMC3817946
AbstractArticle
19.
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
20.
The selector gene Pax7 dictates alternate pituitary cell fates through its pioneer action on chromatin remodeling
Lionel Budry, Aurélio Balsalobre, Yves Gauthier, Konstantin Khetchoumian, Aurore L'Honoré, Sophie Vallette, Thierry Brue, Dominique Figarella-Branger, Björn Meij, Jacques Drouin
Genes Dev. 2012 Oct 15; 26(20): 2299–2310. doi: 10.1101/gad.200436.112
PMCID:
PMC3475802
AbstractArticlePDF–1.6M

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