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Select item 84367531.

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

Abstract Article PDF–4.2M

Select item 78504882.

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

Abstract Article PDF–4.8M

Select item 53479033.

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

Abstract Article PDF–913K

Select item 78684034.

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

Abstract Article PDF–3.0M

Select item 72695625.

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

Abstract Article PDF–4.5M

Select item 56996466.

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

Abstract Article

Select item 43665067.

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

Abstract Article PDF–1.2M

Select item 110722078.

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

Abstract Article PDF–6.8M

Select item 34758029.

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

Abstract Article PDF–1.6M

Select item 1114090710.

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

Abstract Article PDF–4.4M

Select item 461754011.

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

Abstract Article PDF–518K

Select item 874425712.

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

Abstract Article PDF–6.0M

Select item 381794613.

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

Abstract Article

Select item 43978314.

Genomic Analysis of Mouse Retinal Development

Seth Blackshaw, Sanjiv Harpavat, Jeff Trimarchi, Li Cai, Haiyan Huang, Winston P Kuo, Griffin Weber, Kyungjoon Lee, Rebecca E Fraioli, Seo-Hee Cho, Rachel Yung, Elizabeth Asch, Lucila Ohno-Machado, Wing H Wong, Constance L Cepko

PLoS Biol. 2004 Sep; 2(9): e247. Published online 2004 Jun 29. doi: 10.1371/journal.pbio.0020247

PMCID:: PMC439783

Abstract Article PDF–975K

Select item 645951015.

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

Abstract Article PDF–5.1M

Select item 277884416.

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

Abstract Article PDF–1.2M

Select item 407349417.

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

Abstract Article PDF–2.1M

Select item 831323918.

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

Abstract Article PDF–1.6M

Select item 18788519.

A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome

Jens Hansen, Thomas Floss, Petra Van Sloun, Ernst-Martin Füchtbauer, Franz Vauti, Hans-Hennig Arnold, Frank Schnütgen, Wolfgang Wurst, Harald von Melchner, Patricia Ruiz

Proc Natl Acad Sci U S A. 2003 Aug 19; 100(17): 9918–9922. Published online 2003 Aug 6. doi: 10.1073/pnas.1633296100

PMCID:: PMC187885

Abstract Article PDF–287K

Select item 30876320.

GenePaint.org: an atlas of gene expression patterns in the mouse embryo

Axel Visel, Christina Thaller, Gregor Eichele

Nucleic Acids Res. 2004 Jan 1; 32(Database issue): D552–D556. doi: 10.1093/nar/gkh029

PMCID:: PMC308763

Abstract Article PDF–253K

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