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Items: 1 to 20 of 33

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.
CHCHD2 up-regulation in Huntington disease mediates a compensatory protective response against oxidative stress
Xuanzhuo Liu, Fang Wang, Xinman Fan, Mingyi Chen, Xiaoxin Xu, Qiuhong Xu, Huili Zhu, Anding Xu, Mahmoud A. Pouladi, Xiaohong Xu
Cell Death Dis. 2024 Feb; 15(2): 126. Published online 2024 Feb 10. doi: 10.1038/s41419-024-06523-x
PMCID:
PMC10858906
AbstractArticlePDF–9.2M
3.
Involvement of casein kinase 1 epsilon/delta (Csnk1e/d) in the pathogenesis of familial Parkinson's disease caused by CHCHD2
Satoru Torii, Satoko Arakawa, Shigeto Sato, Kei‐ichi Ishikawa, Daisuke Taniguchi, Hajime Tajima Sakurai, Shinya Honda, Yuuichi Hiraoka, Masaya Ono, Wado Akamatsu, Nobutaka Hattori, Shigeomi Shimizu
EMBO Mol Med. 2023 Sep; 15(9): e17451. Published online 2023 Aug 14. doi: 10.15252/emmm.202317451
PMCID:
PMC10493588
AbstractArticlePDF–13M
4.
CHCHD2 p.Thr61Ile knock‐in mice exhibit motor defects and neuropathological features of Parkinson's disease
Liyuan Fan, Shuo Zhang, Xinwei Li, Zhengwei Hu, Jing Yang, Shuyu Zhang, Huimin Zheng, Yun Su, Haiyang Luo, Xinjing Liu, Yu Fan, Huifang Sun, Zhongxian Zhang, Jinxin Miao, Bo Song, Zongping Xia, Changhe Shi, Chengyuan Mao, Yuming Xu
Brain Pathol. 2023 May; 33(3): e13124. Published online 2022 Nov 2. doi: 10.1111/bpa.13124
PMCID:
PMC10154378
AbstractArticlePDF–17M
5.
Increased CHCHD2 expression promotes liver fibrosis in nonalcoholic steatohepatitis via Notch/osteopontin signaling
Yue Li, Wenjing Xiu, Jingwen Xu, Xiangmei Chen, Guangyan Wang, Jinjie Duan, Lei Sun, Ben Liu, Wen Xie, Guangyin Pu, Qi Wang, Chunjiong Wang
JCI Insight. 2022 Dec 8; 7(23): e162402. Published online 2022 Dec 8. doi: 10.1172/jci.insight.162402
PMCID:
PMC9746920
AbstractArticlePDF–5.6M
6.
Pathological characterization of a novel mouse model expressing the PD-linked CHCHD2-T61I mutation
Teresa R Kee, Jessica L Wehinger, Pamela Espinoza Gonzalez, Eric Nguyen, Kyle C McGill Percy, Sophia A Khan, Dale Chaput, Xinming Wang, Tian Liu, David E Kang, Jung-A A Woo
Hum Mol Genet. 2022 Dec 1; 31(23): 3987–4005. Published online 2022 Jul 4. doi: 10.1093/hmg/ddac083
PMCID:
PMC9703812
AbstractArticlePDF–2.6M
7.
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial myopathy
Mario K. Shammas, Xiaoping Huang, Beverly P. Wu, Evelyn Fessler, Insung Y. Song, Nicholas P. Randolph, Yan Li, Christopher K.E. Bleck, Danielle A. Springer, Carl Fratter, Ines A. Barbosa, Andrew F. Powers, Pedro M. Quirós, Carlos Lopez-Otin, Lucas T. Jae, Joanna Poulton, Derek P. Narendra
J Clin Invest. 2022 Jul 15; 132(14): e157504. Published online 2022 Jul 15. doi: 10.1172/JCI157504
PMCID:
PMC9282932
AbstractArticlePDF–20M
8.
Mouse midbrain dopaminergic neurons survive loss of the PD-associated mitochondrial protein CHCHD2
Mai K Nguyen, Kevin McAvoy, Szu-Chi Liao, Zak Doric, Iris Lo, Huihui Li, Giovanni Manfredi, Ken Nakamura
Hum Mol Genet. 2022 May 1; 31(9): 1500–1518. Published online 2021 Nov 15. doi: 10.1093/hmg/ddab329
PMCID:
PMC9071413
AbstractArticlePDF–2.9M
9.
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
10.
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations
Yi-Ting Liu, Xiaoping Huang, Diana Nguyen, Mario K Shammas, Beverly P Wu, Eszter Dombi, Danielle A Springer, Joanna Poulton, Shiori Sekine, Derek P Narendra
Hum Mol Genet. 2020 Jun 3; 29(9): 1547–1567. Published online 2020 Apr 27. doi: 10.1093/hmg/ddaa077
PMCID:
PMC7268789
AbstractArticlePDF–2.9M
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.
Irisin Mediates Effects on Bone and Fat via αV Integrin Receptors
Hyeonwoo Kim, Christiane D. Wrann, Mark Jedrychowski, Sara Vidoni, Yukiko Kitase, Kenichi Nagano, Chenhe Zhou, Joshua Chou, Virginia-Jeni A. Parkman, Scott J. Novick, Timothy S. Strutzenberg, Bruce D. Pascal, Phuong T. Le, Daniel J. Brooks, Alexander M. Roche, Kaitlyn K. Gerber, Laura Mattheis, Wenjing Chen, Hua Tu, Mary L. Bouxsein, Patrick R. Griffin, Roland Baron, Clifford J. Rosen, Lynda F. Bonewald, Bruce M. Spiegelman
Cell. Author manuscript; available in PMC 2019 Dec 13.
Published in final edited form as: Cell. 2018 Dec 13; 175(7): 1756–1768.e17. doi: 10.1016/j.cell.2018.10.025
Correction in:
Cell. 2019 Jul 11; 178(2): 507–508.
PMCID:
PMC6298040
AbstractArticlePDF–1.2M
13.
CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10
Xiaoping Huang, Beverly P Wu, Diana Nguyen, Yi-Ting Liu, Melika Marani, Jürgen Hench, Paule Bénit, Vera Kozjak-Pavlovic, Pierre Rustin, Stephan Frank, Derek P Narendra
Hum Mol Genet. 2018 Nov 15; 27(22): 3881–3900. Published online 2018 Jul 31. doi: 10.1093/hmg/ddy270
Correction in:
Hum Mol Genet. 2019 Jan 15; 28(2): 349.
PMCID:
PMC6216204
AbstractArticlePDF–68M
14.
Loss of Parkinson's disease-associated protein CHCHD2 affects mitochondrial crista structure and destabilizes cytochrome c
Hongrui Meng, Chikara Yamashita, Kahori Shiba-Fukushima, Tsuyoshi Inoshita, Manabu Funayama, Shigeto Sato, Tomohisa Hatta, Tohru Natsume, Masataka Umitsu, Junichi Takagi, Yuzuru Imai, Nobutaka Hattori
Nat Commun. 2017; 8: 15500. Published online 2017 Jun 7. doi: 10.1038/ncomms15500
PMCID:
PMC5467237
AbstractArticlePDF–9.1M
15.
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
16.
The FOXG1/FOXO/SMAD network balances proliferation and differentiation of cortical progenitors and activates Kcnh3 expression in mature neurons
Riccardo Vezzali, Stefan Christopher Weise, Nicole Hellbach, Venissa Machado, Stefanie Heidrich, Tanja Vogel
Oncotarget. 2016 Jun 21; 7(25): 37436–37455. Published online 2016 May 21. doi: 10.18632/oncotarget.9545
PMCID:
PMC5122323
AbstractArticlePDF–9.5M
17.
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
18.
Mapping the Nephronophthisis-Joubert-Meckel-Gruber Protein Network Reveals Ciliopathy Disease Genes and Pathways
Liyun Sang, Julie J. Miller, Kevin C. Corbit, Rachel H. Giles, Matthew J. Brauer, Edgar A. Otto, Lisa M. Baye, Xiaohui Wen, Suzie J. Scales, Mandy Kwong, Erik G. Huntzicker, Mindan K. Sfakianos, Wendy Sandoval, J. Fernando Bazan, Priya Kulkarni, Francesc R. Garcia-Gonzalo, Allen D. Seol, John F. O'Toole, Susanne Held, Heiko M. Reutter, William S. Lane, Muhammad Arshad Rafiq, Abdul Noor, Muhammad Ansar, Akella Radha Rama Devi, Val C. Sheffield, Diane C. Slusarski, John B. Vincent, Daniel A. Doherty, Friedhelm Hildebrandt, Jeremy F. Reiter, Peter K. Jackson
Cell. Author manuscript; available in PMC 2012 Jun 26.
Published in final edited form as: Cell. 2011 May 13; 145(4): 513–528. doi: 10.1016/j.cell.2011.04.019
PMCID:
PMC3383065
AbstractArticlePDF–2.0M
19.
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
20.
New TFII-I family target genes involved in embryonic development
Aleksandr V. Makeyev, Dashzeveg Bayarsaihan
Biochem Biophys Res Commun. Author manuscript; available in PMC 2011 May 11.
Published in final edited form as: Biochem Biophys Res Commun. 2009 Sep 4; 386(4): 554–558. Published online 2009 Jun 13. doi: 10.1016/j.bbrc.2009.06.045
PMCID:
PMC3092703
AbstractArticlePDF–74K

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