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Items: 1 to 20 of 32

1.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
2.
The compound heterozygous mutations of c.607G>a and c.657delC in the FAH gene are associated with renal damage with hereditary tyrosinemia type 1 (HT1)
Huan Chi, Chun Gan, Yaru Jiang, Dan Chen, Jiawen Qiu, Qing Yang, Yaxi Chen, Mo Wang, Haiping Yang, Wei Jiang, Qiu Li
Mol Genet Genomic Med. 2023 Jan; 11(1): e2090. Published online 2022 Nov 12. doi: 10.1002/mgg3.2090
PMCID:
PMC9834193
AbstractArticlePDF–7.6M
3.
Scalable multiplex co-fractionation/mass spectrometry platform for accelerated protein interactome discovery
Pierre C. Havugimana, Raghuveera Kumar Goel, Sadhna Phanse, Ahmed Youssef, Dzmitry Padhorny, Sergei Kotelnikov, Dima Kozakov, Andrew Emili
Nat Commun. 2022; 13: 4043. Published online 2022 Jul 13. doi: 10.1038/s41467-022-31809-z
PMCID:
PMC9279285
AbstractArticlePDF–2.5M
4.
Histone deacetylase inhibitors inhibit cervical cancer growth through Parkin acetylation-mediated mitophagy
Xin Sun, Yuhan Shu, Guiqin Ye, Caixia Wu, Mengting Xu, Ruilan Gao, Dongsheng Huang, Jianbin Zhang
Acta Pharm Sin B. 2022 Feb; 12(2): 838–852. Published online 2021 Jul 21. doi: 10.1016/j.apsb.2021.07.003
PMCID:
PMC8897022
AbstractArticlePDF–3.0M
5.
Fumarylacetoacetate hydrolase gene as a knockout target for hepatic chimerism and donor liver production
Ellen L. Larson, Dong Jin Joo, Erek D. Nelson, Bruce P. Amiot, Rajagopal N. Aravalli, Scott L. Nyberg
Stem Cell Reports. 2021 Nov 9; 16(11): 2577–2588. Published online 2021 Oct 21. doi: 10.1016/j.stemcr.2021.09.018
PMCID:
PMC8581169
AbstractArticlePDF–914K
6.
Survival‐Assured Liver Injury Preconditioning (SALIC) Enables Robust Expansion of Human Hepatocytes in Fah–/–Rag2–/–IL2rg–/– Rats
Ludi Zhang, Jian‐Yun Ge, Yun‐Wen Zheng, Zhen Sun, Chenhua Wang, Zhaoliang Peng, Baihua Wu, Mei Fang, Kinji Furuya, Xiaolong Ma, Yanjiao Shao, Nobuhiro Ohkohchi, Tatsuya Oda, Jianglin Fan, Guoyu Pan, Dali Li, Lijian Hui
Adv Sci (Weinh) 2021 Oct; 8(19): 2101188. Published online 2021 Aug 11. doi: 10.1002/advs.202101188
PMCID:
PMC8498896
AbstractArticlePDF–16M
7.
Therapeutic Targeting of Fumaryl Acetoacetate Hydrolase in Hereditary Tyrosinemia Type I
Jon Gil-Martínez, Iratxe Macias, Luca Unione, Ganeko Bernardo-Seisdedos, Fernando Lopitz-Otsoa, David Fernandez-Ramos, Ana Lain, Arantza Sanz-Parra, José M Mato, Oscar Millet
Int J Mol Sci. 2021 Feb; 22(4): 1789. Published online 2021 Feb 11. doi: 10.3390/ijms22041789
PMCID:
PMC7916972
AbstractArticlePDF–1.2M
8.
Combinatorial CRISPR screen identifies fitness effects of gene paralogues
Nicola A. Thompson, Marco Ranzani, Louise van der Weyden, Vivek Iyer, Victoria Offord, Alastair Droop, Fiona Behan, Emanuel Gonçalves, Anneliese Speak, Francesco Iorio, James Hewinson, Victoria Harle, Holly Robertson, Elizabeth Anderson, Beiyuan Fu, Fengtang Yang, Guido Zagnoli-Vieira, Phil Chapman, Martin Del Castillo Velasco-Herrera, Mathew J. Garnett, Stephen P. Jackson, David J. Adams
Nat Commun. 2021; 12: 1302. Published online 2021 Feb 26. doi: 10.1038/s41467-021-21478-9
PMCID:
PMC7910459
AbstractArticlePDF–3.3M
9.
E3 Ubiquitin Ligase APC/CCdh1 Negatively Regulates FAH Protein Stability by Promoting Its Polyubiquitination
Kamini Kaushal, Sang Hyeon Woo, Apoorvi Tyagi, Dong Ha Kim, Bharathi Suresh, Kye-Seong Kim, Suresh Ramakrishna
Int J Mol Sci. 2020 Nov; 21(22): 8719. Published online 2020 Nov 18. doi: 10.3390/ijms21228719
PMCID:
PMC7699203
AbstractArticlePDF–10M
10.
A reference map of the human binary protein interactome
Katja Luck, Dae-Kyum Kim, Luke Lambourne, Kerstin Spirohn, Bridget E. Begg, Wenting Bian, Ruth Brignall, Tiziana Cafarelli, Francisco J. Campos-Laborie, Benoit Charloteaux, Dongsic Choi, Atina G. Coté, Meaghan Daley, Steven Deimling, Alice Desbuleux, Amélie Dricot, Marinella Gebbia, Madeleine F. Hardy, Nishka Kishore, Jennifer J. Knapp, István A. Kovács, Irma Lemmens, Miles W. Mee, Joseph C. Mellor, Carl Pollis, Carles Pons, Aaron D. Richardson, Sadie Schlabach, Bridget Teeking, Anupama Yadav, Mariana Babor, Dawit Balcha, Omer Basha, Christian Bowman-Colin, Suet-Feung Chin, Soon Gang Choi, Claudia Colabella, Georges Coppin, Cassandra D’Amata, David De Ridder, Steffi De Rouck, Miquel Duran-Frigola, Hanane Ennajdaoui, Florian Goebels, Liana Goehring, Anjali Gopal, Ghazal Haddad, Elodie Hatchi, Mohamed Helmy, Yves Jacob, Yoseph Kassa, Serena Landini, Roujia Li, Natascha van Lieshout, Andrew MacWilliams, Dylan Markey, Joseph N. Paulson, Sudharshan Rangarajan, John Rasla, Ashyad Rayhan, Thomas Rolland, Adriana San-Miguel, Yun Shen, Dayag Sheykhkarimli, Gloria M. Sheynkman, Eyal Simonovsky, Murat Taşan, Alexander Tejeda, Vincent Tropepe, Jean-Claude Twizere, Yang Wang, Robert J. Weatheritt, Jochen Weile, Yu Xia, Xinping Yang, Esti Yeger-Lotem, Quan Zhong, Patrick Aloy, Gary D. Bader, Javier De Las Rivas, Suzanne Gaudet, Tong Hao, Janusz Rak, Jan Tavernier, David E. Hill, Marc Vidal, Frederick P. Roth, Michael A. Calderwood
Nature. Author manuscript; available in PMC 2020 Oct 8.
Published in final edited form as: Nature. 2020 Apr; 580(7803): 402–408. Published online 2020 Apr 8. doi: 10.1038/s41586-020-2188-x
PMCID:
PMC7169983
AbstractArticlePDF–5.4M
11.
Mutational spectrum of Mexican patients with tyrosinemia type 1: In silico modeling and predicted pathogenic effect of a novel missense FAH variant
Isabel Ibarra‐González, Cynthia Fernández‐Lainez, Miguel Angel Alcántara‐Ortigoza, Ariadna González‐Del Angel, Liliana Fernández‐Henández, Sara Guillén‐López, Leticia Belmont‐Martínez, Lizbeth López‐Mejía, Gustavo Varela‐Fascinetto, Marcela Vela‐Amieva
Mol Genet Genomic Med. 2019 Dec; 7(12): e937. Published online 2019 Sep 30. doi: 10.1002/mgg3.937
PMCID:
PMC6900384
AbstractArticlePDF–707K
12.
Identification of phagocytosis regulators using magnetic genome-wide CRISPR screens
Michael S. Haney, Christopher J. Bohlen, David W Morgens, James A. Ousey, Amira A. Barkal, C. Kimberly Tsui, Braeden Ego, Roni Levin, Roarke Kamber, Hannah Collins, Andrew Tucker, Amy Li, Daan Vorselen, Lorenzo Labitigan, Emily Crane, Evan Boyle, Lihua Jiang, Joanne Chan, Esther Rincón, William J. Greenleaf, Billy Li, Michael P. Snyder, Irving L. Weissman, Julie A. Theriot, Sean R. Collins, Ben A. Barres, Michael C. Bassik
Nat Genet. Author manuscript; available in PMC 2019 Sep 3.
Published in final edited form as: Nat Genet. 2018 Dec; 50(12): 1716–1727. Published online 2018 Nov 5. doi: 10.1038/s41588-018-0254-1
PMCID:
PMC6719718
AbstractArticlePDF–1.3M
13.
The Somatic FAH c.1061C>A Change Counteracts the Frequent FAH c.1062+5G>A Mutation and Permits U1snRNA-Based Splicing Correction
Daniela Scalet, Claudia Sacchetto, Francesco Bernardi, Mirko Pinotti, Stan F.J. van de Graaf, Dario Balestra
J Hum Genet. Author manuscript; available in PMC 2018 Sep 1.
Published in final edited form as: J Hum Genet. 2018 May; 63(5): 683–686. Published online 2018 Mar 1. doi: 10.1038/s10038-018-0427-x
PMCID:
PMC5919117
AbstractArticlePDF–450K
14.
Silent Tyrosinemia Type I Without Elevated Tyrosine or Succinylacetone Associated with Liver Cirrhosis and Hepatocellular Carcinoma
Patrick R. Blackburn, Raymond D. Hickey, Rebecca A. Nace, Nasra H. Giama, Daniel L. Kraft, Andrew J. Bordner, Roongruedee Chaiteerakij, Jennifer B. McCormick, Maja Radulovic, Rondell P. Graham, Michael S. Torbenson, Silvia Tortorelli, C. Ronald Scott, Noralane M. Lindor, Dawn S. Milliner, Devin Oglesbee, Wafa'a Al‐Qabandi, Markus Grompe, Dimitar K. Gavrilov, Mounif El‐Youssef, Karl J. Clark, Paldeep S. Atwal, Lewis R. Roberts, Eric W. Klee, Stephen C. Ekker
Hum Mutat. 2016 Oct; 37(10): 1097–1105. Published online 2016 Aug 8. doi: 10.1002/humu.23047
PMCID:
PMC5108417
AbstractArticlePDF–789K
15.
Panorama of ancient metazoan macromolecular complexes
Cuihong Wan, Blake Borgeson, Sadhna Phanse, Fan Tu, Kevin Drew, Greg Clark, Xuejian Xiong, Olga Kagan, Julian Kwan, Alexandr Berzginov, Kyle Chessman, Swati Pal, Graham Cromar, Ophelia Papoulas, Zuyao Ni, Daniel R. Boutz, Snejana Stoilova, Pierre C. Havugimana, Xinghua Guo, Ramy H. Malty, Mihail Sarov, Jack Greenblatt, Mohan Babu, Brent Derry, Elisabeth Tillier, John B. Wallingford, John Parkinson, Edward M. Marcotte, Andrew Emili
Nature. Author manuscript; available in PMC 2016 Sep 26.
Published in final edited form as: Nature. 2015 Sep 17; 525(7569): 339–344. Published online 2015 Sep 7. doi: 10.1038/nature14877
PMCID:
PMC5036527
AbstractArticlePDF–4.7M
16.
A proteome-scale map of the human interactome network
Thomas Rolland, Murat Taşan, Benoit Charloteaux, Samuel J. Pevzner, Quan Zhong, Nidhi Sahni, Song Yi, Irma Lemmens, Celia Fontanillo, Roberto Mosca, Atanas Kamburov, Susan D. Ghiassian, Xinping Yang, Lila Ghamsari, Dawit Balcha, Bridget E. Begg, Pascal Braun, Marc Brehme, Martin P. Broly, Anne-Ruxandra Carvunis, Dan Convery-Zupan, Roser Corominas, Jasmin Coulombe-Huntington, Elizabeth Dann, Matija Dreze, Amélie Dricot, Changyu Fan, Eric Franzosa, Fana Gebreab, Bryan J. Gutierrez, Madeleine F. Hardy, Mike Jin, Shuli Kang, Ruth Kiros, Guan Ning Lin, Katja Luck, Andrew MacWilliams, Jörg Menche, Ryan R. Murray, Alexandre Palagi, Matthew M. Poulin, Xavier Rambout, John Rasla, Patrick Reichert, Viviana Romero, Elien Ruyssinck, Julie M. Sahalie, Annemarie Scholz, Akash A. Shah, Amitabh Sharma, Yun Shen, Kerstin Spirohn, Stanley Tam, Alexander O. Tejeda, Shelly A. Wanamaker, Jean-Claude Twizere, Kerwin Vega, Jennifer Walsh, Michael E. Cusick, Yu Xia, Albert-László Barabási, Lilia M. Iakoucheva, Patrick Aloy, Javier De Las Rivas, Jan Tavernier, Michael A. Calderwood, David E. Hill, Tong Hao, Frederick P. Roth, Marc Vidal
Cell. Author manuscript; available in PMC 2015 Nov 20.
Published in final edited form as: Cell. 2014 Nov 20; 159(5): 1212–1226. doi: 10.1016/j.cell.2014.10.050
PMCID:
PMC4266588
AbstractArticlePDF–3.1M
17.
Tyrosinemia type 1: a rare and forgotten cause of reversible hypertrophic cardiomyopathy in infancy
Sarar Mohamed, Mohammed A Kambal, Nasir A Al Jurayyan, Abdulrahman Al-Nemri, Amir Babiker, Rana Hasanato, Abdullah S Al-Jarallah
BMC Res Notes. 2013; 6: 362. Published online 2013 Sep 9. doi: 10.1186/1756-0500-6-362
PMCID:
PMC3846631
AbstractArticlePDF–1.7M
18.
In-depth proteomic analyses of exosomes isolated from expressed prostatic secretions in urine
Simona Principe, E. Ellen Jones, Yunee Kim, Ankit Sinha, Julius O. Nyalwidhe, Jasmin Brooks, O. John Semmes, Dean A. Troyer, Raymond S. Lance, Thomas Kislinger, Richard R. Drake
Proteomics. Author manuscript; available in PMC 2014 May 1.
Published in final edited form as: Proteomics. 2013 May; 13(0): 1667–1671. Published online 2013 Apr 23. doi: 10.1002/pmic.201200561
PMCID:
PMC3773505
AbstractArticlePDF–630K
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.
Combining fMRI and SNP data to investigate connections between brain function and genetics using parallel ICA
Jingyu Liu, Godfrey Pearlson, Andreas Windemuth, Gualberto Ruano, Nora I. Perrone‐Bizzozero, Vince Calhoun
Hum Brain Mapp. 2009 Jan; 30(1): 241–255. Published online 2007 Dec 10. doi: 10.1002/hbm.20508
PMCID:
PMC2668960
AbstractArticlePDF–290K

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