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Select item 66610041.

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

Nicole J. Lake, Luke E. Formosa, David A. Stroud, Michael T. Ryan, Sarah E. Calvo, Vamsi K. Mootha, Bharti Morar, Peter G Procopis, John Christodoulou, Alison G. Compton, David R. Thorburn

Hum Mutat. Author manuscript; available in PMC 2020 Jul 1.

Published in final edited form as: Hum Mutat. 2019 Jul; 40(7): 893–898. Published online 2019 Apr 13. doi: 10.1002/humu.23753

PMCID:: PMC6661004

Abstract Article PDF–272K

Select item 60974712.

TIMMDC1 Knockdown Inhibits Growth and Metastasis of Gastric Cancer Cells through Metabolic Inhibition and AKT/GSK3β/β-Catenin Signaling Pathway

Yuan Liu, Yuyan Huang, Jingjing Zhang, Cao Pei, Jiahui Hu, Jianxin Lyu, Yao Shen

Int J Biol Sci. 2018; 14(10): 1256–1267. Published online 2018 Jul 27. doi: 10.7150/ijbs.27100

PMCID:: PMC6097471

Abstract Article PDF–1.7M

Select item 42641833.

Depletion of C3orf1/TIMMDC1 Inhibits Migration and Proliferation in 95D Lung Carcinoma Cells

Huiling Wu, Wenbing Wang, Huaxi Xu

Int J Mol Sci. 2014 Nov; 15(11): 20555–20571. Published online 2014 Nov 10. doi: 10.3390/ijms151120555

PMCID:: PMC4264183

Abstract Article PDF–1.5M

Select item 38397054.

Assembly factors for the membrane arm of human complex I

Byron Andrews, Joe Carroll, Shujing Ding, Ian M. Fearnley, John E. Walker

Proc Natl Acad Sci U S A. 2013 Nov 19; 110(47): 18934–18939. Published online 2013 Nov 4. doi: 10.1073/pnas.1319247110

PMCID:: PMC3839705

Abstract Article PDF–807K

Select item 29126445.

Genome-Wide Conditional Search for Epistatic Disease-Predisposing Variants in Human Association Studies

Gao Wang, Yaning Yang, Jurg Ott

Hum Hered. 2010 Jun; 70(1): 34–41. Published online 2010 Apr 23. doi: 10.1159/000293722

PMCID:: PMC2912644

Abstract Article PDF–209K

Select item 33660436.

Genome-wide association analysis of juvenile idiopathic arthritis identifies a new susceptibility locus at chromosomal region 3q13

Susan D. Thompson, Miranda C. Marion, Marc Sudman, Mary Ryan, Monica Tsoras, Timothy D. Howard, Michael G. Barnes, Paula S. Ramos, Wendy Thomson, Anne Hinks, Johannes P. Haas, Sampath Prahalad, John F. Bohnsack, Carol A. Wise, Marilynn Punaro, Carlos D. Rosé, Nicholas M. Pajewski, Michael Spigarelli, Mehdi Keddache, Michael Wagner, Carl D. Langefeld, David N. Glass

Arthritis Rheum. Author manuscript; available in PMC 2013 Aug 1.

Published in final edited form as: Arthritis Rheum. 2012 Aug; 64(8): 2781–2791. doi: 10.1002/art.34429

PMCID:: PMC3366043

Abstract Article PDF–580K

Select item 60670857.

OCIAD1 Controls Electron Transport Chain Complex I Activity to Regulate Energy Metabolism in Human Pluripotent Stem Cells

Deeti K. Shetty, Kaustubh P. Kalamkar, Maneesha S. Inamdar

Stem Cell Reports. 2018 Jul 10; 11(1): 128–141. Published online 2018 Jun 21. doi: 10.1016/j.stemcr.2018.05.015

PMCID:: PMC6067085

Abstract Article PDF–3.5M

Select item 80207518.

TMEM70 and TMEM242 help to assemble the rotor ring of human ATP synthase and interact with assembly factors for complex I

Joe Carroll, Jiuya He, Shujing Ding, Ian M. Fearnley, John E. Walker

Proc Natl Acad Sci U S A. 2021 Mar 30; 118(13): e2100558118. Published online 2021 Mar 22. doi: 10.1073/pnas.2100558118

PMCID:: PMC8020751

Abstract Article PDF–1.6M

Select item 34846509.

Genome-wide Association Study Identifies TNFSF15 and POU2AF1 as Susceptibility Loci for Primary Biliary Cirrhosis in the Japanese Population

Minoru Nakamura, Nao Nishida, Minae Kawashima, Yoshihiro Aiba, Atsushi Tanaka, Michio Yasunami, Hitomi Nakamura, Atsumasai Komori, Makoto Nakamuta, Mikio Zeniya, Etsuko Hashimoto, Hiromasa Ohira, Kazuhide Yamamoto, Morikazu Onji, Shuichi Kaneko, Masao Honda, Satoshi Yamagiwa, Kazuhiko Nakao, Takafumi Ichida, Hajime Takikawa, Masataka Seike, Takeji Umemura, Yoshiyuki Ueno, Shotaro Sakisaka, Kentaro Kikuchi, Hirotoshi Ebinuma, Noriyo Yamashiki, Sumito Tamura, Yasuhiko Sugawara, Akira Mori, Shintaro Yagi, Ken Shirabe, Akinobu Taketomi, Kuniaki Arai, Kyoko Monoe, Tatsuki Ichikawa, Makiko Taniai, Yasuhiro Miyake, Teru Kumagi, Masanori Abe, Kaname Yoshizawa, Satoru Joshita, Shinji Shimoda, Koichi Honda, Hiroki Takahashi, Katsuji Hirano, Yasuaki Takeyama, Kenichi Harada, Kiyoshi Migita, Masahiro Ito, Hiroshi Yatsuhashi, Nobuyoshi Fukushima, Hajime Ota, Tatsuji Komatsu, Takeo Saoshiro, Jinya Ishida, Hirotsugu Kouno, Hirotaka Kouno, Michiyasu Yagura, Masakazu Kobayashi, Toyokichi Muro, Naohiko Masaki, Keiichi Hirata, Yukio Watanabe, Yoko Nakamura, Masaaki Shimada, Noboru Hirashima, Toshiki Komeda, Kazuhiro Sugi, Michiaki Koga, Keisuke Ario, Eiichi Takesaki, Yoshihiko Maehara, Shinji Uemoto, Norihiro Kokudo, Hirohito Tsubouchi, Masashi Mizokami, Yasuni Nakanuma, Katsushi Tokunaga, Hiromi Ishibashi

Am J Hum Genet. 2012 Oct 5; 91(4): 721–728. doi: 10.1016/j.ajhg.2012.08.010

PMCID:: PMC3484650

Abstract Article PDF–601K

Select item 307155010.

Genome-wide association study identifies 12 new susceptibility loci for primary biliary cirrhosis

George F. Mells, James A.B. Floyd, Katherine I. Morley, Heather J. Cordell, Christopher S. Franklin, So-Youn Shin, Michael A. Heneghan, James M. Neuberger, Peter T. Donaldson, Darren B. Day, Samantha J. Ducker, Agnes W. Muriithi, Elizabeth F. Wheater, Christopher J. Hammond, Muhammad F. Dawwas, The UK PBC Consortium, The Wellcome Trust Case Control Consortium 3, David E. Jones, Leena Peltonen, Graeme J. Alexander, Richard N. Sandford, Carl A. Anderson

Nat Genet. Author manuscript; available in PMC 2011 Sep 13.

Published in final edited form as: Nat Genet. 2011 Mar 13; 43(4): 329–332. Published online 2011 Mar 13. doi: 10.1038/ng.789

Correction in:: volume 43 on page 1164

PMCID:: PMC3071550

Abstract Article PDF–284K

Select item 264781611.

Proteomic analysis reveals Hrs UIM-mediated ubiquitin signaling in multiple cellular processes

Julia W. Pridgeon, Elizabeth A. Webber, Di Sha, Lian Li, Lih-Shen Chin

FEBS J. Author manuscript; available in PMC 2010 Jan 1.

Published in final edited form as: FEBS J. 2009 Jan; 276(1): 118–131. doi: 10.1111/j.1742-4658.2008.06760.x

PMCID:: PMC2647816

Abstract Article PDF–1.6M

Select item 979335912.

SARS-CoV-2 hijacks cellular kinase CDK2 to promote viral RNA synthesis

Saisai Guo, Xiaobo Lei, Yan Chang, Jianyuan Zhao, Jing Wang, Xiaojing Dong, Qian Liu, Zixiong Zhang, Lidan Wang, Dongrong Yi, Ling Ma, Quanjie Li, Yongxin Zhang, Jiwei Ding, Chen Liang, Xiaoyu Li, Fei Guo, Jianwei Wang, Shan Cen

Signal Transduct Target Ther. 2022; 7: 400. Published online 2022 Dec 27. doi: 10.1038/s41392-022-01239-w

PMCID:: PMC9793359

Abstract Article PDF–3.7M

Select item 318253113.

Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis

The International Multiple Sclerosis Genetics Consortium (IMSGC), Wellcome Trust Case Control Consortium 2 (WTCCC2), Stephen Sawcer, Garrett Hellenthal, Matti Pirinen, Chris C.A. Spencer, Nikolaos A. Patsopoulos, Loukas Moutsianas, Alexander Dilthey, Zhan Su, Colin Freeman, Sarah E. Hunt, Sarah Edkins, Emma Gray, David R. Booth, Simon C. Potter, An Goris, Gavin Band, Annette Bang Oturai, Amy Strange, Janna Saarela, Céline Bellenguez, Bertrand Fontaine, Matthew Gillman, Bernhard Hemmer, Rhian Gwilliam, Frauke Zipp, Alagurevathi Jayakumar, Roland Martin, Stephen Leslie, Stanley Hawkins, Eleni Giannoulatou, Sandra D’alfonso, Hannah Blackburn, Filippo Martinelli Boneschi, Jennifer Liddle, Hanne F. Harbo, Marc L. Perez, Anne Spurkland, Matthew J Waller, Marcin P. Mycko, Michelle Ricketts, Manuel Comabella, Naomi Hammond, Ingrid Kockum, Owen T. McCann, Maria Ban, Pamela Whittaker, Anu Kemppinen, Paul Weston, Clive Hawkins, Sara Widaa, John Zajicek, Serge Dronov, Neil Robertson, Suzannah J. Bumpstead, Lisa F. Barcellos, Rathi Ravindrarajah, Roby Abraham, Lars Alfredsson, Kristin Ardlie, Cristin Aubin, Amie Baker, Katharine Baker, Sergio E. Baranzini, Laura Bergamaschi, Roberto Bergamaschi, Allan Bernstein, Achim Berthele, Mike Boggild, Jonathan P. Bradfield, David Brassat, Simon A. Broadley, Dorothea Buck, Helmut Butzkueven, Ruggero Capra, William M. Carroll, Paola Cavalla, Elisabeth G. Celius, Sabine Cepok, Rosetta Chiavacci, Françoise Clerget-Darpoux, Katleen Clysters, Giancarlo Comi, Mark Cossburn, Isabelle Cournu-Rebeix, Mathew B. Cox, Wendy Cozen, Bruce A.C. Cree, Anne H. Cross, Daniele Cusi, Mark J. Daly, Emma Davis, Paul I.W. de Bakker, Marc Debouverie, Marie Beatrice D’hooghe, Katherine Dixon, Rita Dobosi, Bénédicte Dubois, David Ellinghaus, Irina Elovaara, Federica Esposito, Claire Fontenille, Simon Foote, Andre Franke, Daniela Galimberti, Angelo Ghezzi, Joseph Glessner, Refujia Gomez, Olivier Gout, Colin Graham, Struan F.A. Grant, Franca Rosa Guerini, Hakon Hakonarson, Per Hall, Anders Hamsten, Hans-Peter Hartung, Rob N. Heard, Simon Heath, Jeremy Hobart, Muna Hoshi, Carmen Infante-Duarte, Gillian Ingram, Wendy Ingram, Talat Islam, Maja Jagodic, Michael Kabesch, Allan G. Kermode, Trevor J. Kilpatrick, Cecilia Kim, Norman Klopp, Keijo Koivisto, Malin Larsson, Mark Lathrop, Jeannette S. Lechner-Scott, Maurizio A. Leone, Virpi Leppä, Ulrika Liljedahl, Izaura Lima Bomfim, Robin R. Lincoln, Jenny Link, Jianjun Liu, Åslaug R. Lorentzen, Sara Lupoli, Fabio Macciardi, Thomas Mack, Mark Marriott, Vittorio Martinelli, Deborah Mason, Jacob L. McCauley, Frank Mentch, Inger-Lise Mero, Tania Mihalova, Xavier Montalban, John Mottershead, Kjell-Morten Myhr, Paola Naldi, William Ollier, Alison Page, Aarno Palotie, Jean Pelletier, Laura Piccio, Trevor Pickersgill, Fredrik Piehl, Susan Pobywajlo, Hong L. Quach, Patricia P. Ramsay, Mauri Reunanen, Richard Reynolds, John D. Rioux, Mariaemma Rodegher, Sabine Roesner, Justin P. Rubio, Ina-Maria Rückert, Marco Salvetti, Erika Salvi, Adam Santaniello, Catherine A. Schaefer, Stefan Schreiber, Christian Schulze, Rodney J. Scott, Finn Sellebjerg, Krzysztof W. Selmaj, David Sexton, Ling Shen, Brigid Simms-Acuna, Sheila Skidmore, Patrick M.A. Sleiman, Cathrine Smestad, Per Soelberg Sørensen, Helle Bach Søndergaard, Jim Stankovich, Richard C. Strange, Anna-Maija Sulonen, Emilie Sundqvist, Ann-Christine Syvänen, Francesca Taddeo, Bruce Taylor, Jenefer M. Blackwell, Pentti Tienari, Elvira Bramon, Ayman Tourbah, Matthew A. Brown, Ewa Tronczynska, Juan P. Casas, Niall Tubridy, Aiden Corvin, Jane Vickery, Janusz Jankowski, Pablo Villoslada, Hugh S. Markus, Kai Wang, Christopher G. Mathew, James Wason, Colin N.A. Palmer, H-Erich Wichmann, Robert Plomin, Ernest Willoughby, Anna Rautanen, Juliane Winkelmann, Michael Wittig, Richard C. Trembath, Jacqueline Yaouanq, Ananth C. Viswanathan, Haitao Zhang, Nicholas W. Wood, Rebecca Zuvich, Panos Deloukas, Cordelia Langford, Audrey Duncanson, Jorge R. Oksenberg, Margaret A. Pericak-Vance, Jonathan L. Haines, Tomas Olsson, Jan Hillert, Adrian J. Ivinson, Philip L. De Jager, Leena Peltonen, Graeme J. Stewart, David A. Hafler, Stephen L. Hauser, Gil McVean, Peter Donnelly, Alastair Compston

Nature. Author manuscript; available in PMC 2012 Feb 11.

Published in final edited form as: Nature. 2011 Aug 10; 476(7359): 214–219. Published online 2011 Aug 10. doi: 10.1038/nature10251

PMCID:: PMC3182531

Abstract Article PDF–2.0M

Select item 402382514.

TIMMDC1/C3orf1 Functions as a Membrane-Embedded Mitochondrial Complex I Assembly Factor through Association with the MCIA Complex

Virginia Guarani, Joao Paulo, Bo Zhai, Edward L. Huttlin, Steven P. Gygi, J. Wade Harper

Mol Cell Biol. 2014 Mar; 34(5): 847–861. doi: 10.1128/MCB.01551-13

PMCID:: PMC4023825

Abstract Article PDF–5.5M

Select item 573529715.

Identification of translationally controlled tumor protein in promotion of DNA homologous recombination repair in cancer cells by affinity proteomics

Y Li, H Sun, C Zhang, J Liu, H Zhang, F Fan, R A Everley, X Ning, Y Sun, J Hu, J Liu, J Zhang, W Ye, X Qiu, S Dai, B Liu, H Xu, S Fu, S P Gygi, C Zhou

Oncogene. 2017 Dec 14; 36(50): 6839–6849. Published online 2017 Aug 28. doi: 10.1038/onc.2017.289

PMCID:: PMC5735297

Abstract Article PDF–1.3M

Select item 461025716.

Systematic VCP-UBXD Adaptor Network Proteomics Identifies a Role for UBXN10 in Regulating Ciliogenesis

Malavika Raman, Mikhail Sergeev, Maija Garnaas, John R. Lydeard, Edward L. Huttlin, Wolfram Goessling, Jagesh V. Shah, J. Wade Harper

Nat Cell Biol. Author manuscript; available in PMC 2016 Apr 1.

Published in final edited form as: Nat Cell Biol. 2015 Oct; 17(10): 1356–1369. Published online 2015 Sep 21. doi: 10.1038/ncb3238

Correction in:: Nat Cell Biol. 2016 Mar; 18(3): 347.

PMCID:: PMC4610257

Abstract Article PDF–4.5M

Select item 303170317.

Single nucleotide polymorphisms of matrix metalloproteinase 9 (MMP9) and tumor protein 73 (TP73) interact with Epstein-Barr virus in chronic lymphocytic leukemia: results from the European case-control study EpiLymph

Delphine Casabonne, Oscar Reina, Yolanda Benavente, Nikolaus Becker, Marc Maynadié, Lenka Foretová, Pierluigi Cocco, Anna González-Neira, Alexandra Nieters, Paolo Boffetta, Jaap M. Middeldorp, Silvia de Sanjose

Haematologica. 2011 Feb; 96(2): 323–327. Published online 2010 Nov 3. doi: 10.3324/haematol.2010.031161

PMCID:: PMC3031703

Abstract Article PDF–401K

Select item 499245618.

Mitochondrial protein interaction mapping identifies new regulators of respiratory chain function

Brendan J. Floyd, Emily M. Wilkerson, Mike T. Veling, Catie E. Minogue, Chuanwu Xia, Emily T. Beebe, Russell L. Wrobel, Holly Cho, Laura S. Kremer, Charlotte L. Alston, Katarzyna A. Gromek, Brendan K. Dolan, Arne Ulbrich, Jonathan A. Stefely, Sarah L. Bohl, Kelly M. Werner, Adam Jochem, Michael S. Westphall, Jarred W. Rensvold, Robert W. Taylor, Holger Prokisch, Jung-Ja P. Kim, Joshua J. Coon, David J. Pagliarini

Mol Cell. Author manuscript; available in PMC 2017 Aug 18.

Published in final edited form as: Mol Cell. 2016 Aug 18; 63(4): 621–632. Published online 2016 Aug 4. doi: 10.1016/j.molcel.2016.06.033

PMCID:: PMC4992456

Abstract Article PDF–1.7M

Select item 108373219.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 1003393720.

Assessment of community efforts to advance network-based prediction of protein–protein interactions

Xu-Wen Wang, Lorenzo Madeddu, Kerstin Spirohn, Leonardo Martini, Adriano Fazzone, Luca Becchetti, Thomas P. Wytock, István A. Kovács, Olivér M. Balogh, Bettina Benczik, Mátyás Pétervári, Bence Ágg, Péter Ferdinandy, Loan Vulliard, Jörg Menche, Stefania Colonnese, Manuela Petti, Gaetano Scarano, Francesca Cuomo, Tong Hao, Florent Laval, Luc Willems, Jean-Claude Twizere, Marc Vidal, Michael A. Calderwood, Enrico Petrillo, Albert-László Barabási, Edwin K. Silverman, Joseph Loscalzo, Paola Velardi, Yang-Yu Liu

Nat Commun. 2023; 14: 1582. Published online 2023 Mar 22. doi: 10.1038/s41467-023-37079-7

PMCID:: PMC10033937

Abstract Article PDF–1.5M

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