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Select item 97475621.

A TNNI2 variant c.525G>T causes distal arthrogryposis in a Chinese family

Yue Li, Tianying Nong, Yiqiang Li, Xia Li, Zhaohui Li, Hui Lv, Hongwen Xu, Jingchun Li, Mingwei Zhu

Mol Genet Genomic Med. 2022 Dec; 10(12): e2042. Published online 2022 Sep 7. doi: 10.1002/mgg3.2042

PMCID:: PMC9747562

Abstract Article PDF–963K

Select item 83621562.

Elevation of fast but not slow troponin I in the circulation of patients with Becker and Duchenne muscular dystrophy

Benjamin L. Barthel, Dan Cox, Marissa Barbieri, Michael Ziemba, Volker Straub, Eric P. Hoffman, Alan J. Russell

Muscle Nerve. 2021 Jul; 64(1): 43–49. Published online 2021 Jun 17. doi: 10.1002/mus.27222

PMCID:: PMC8362156

Abstract Article PDF–1.3M

Select item 81650303.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 71699834.

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

Abstract Article PDF–5.4M

Select item 55316115.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 55098726.

Genotype‐specific pathogenic effects in human dilated cardiomyopathy

Ilse A. E. Bollen, Maike Schuldt, Magdalena Harakalova, Aryan Vink, Folkert W. Asselbergs, Jose R. Pinto, Martina Krüger, Diederik W. D. Kuster, Jolanda van der Velden

J Physiol. 2017 Jul 15; 595(14): 4677–4693. Published online 2017 Jun 1. doi: 10.1113/JP274145

PMCID:: PMC5509872

Abstract Article PDF–1.1M

Select item 37322867.

A Possible Mechanism behind Autoimmune Disorders Discovered By Genome-Wide Linkage and Association Analysis in Celiac Disease

Malin Östensson, Caroline Montén, Jonas Bacelis, Audur H. Gudjonsdottir, Svetlana Adamovic, Johan Ek, Henry Ascher, Elisabet Pollak, Henrik Arnell, Lars Browaldh, Daniel Agardh, Jan Wahlström, Staffan Nilsson, Åsa Torinsson-Naluai

PLoS One. 2013; 8(8): e70174. Published online 2013 Aug 2. doi: 10.1371/journal.pone.0070174

PMCID:: PMC3732286

Abstract Article PDF–1.7M

Select item 34918038.

Host-microbe interactions have shaped the genetic architecture of inflammatory bowel disease

Luke Jostins, Stephan Ripke, Rinse K Weersma, Richard H Duerr, Dermot P McGovern, Ken Y Hui, James C Lee, L Philip Schumm, Yashoda Sharma, Carl A Anderson, Jonah Essers, Mitja Mitrovic, Kaida Ning, Isabelle Cleynen, Emilie Theatre, Sarah L Spain, Soumya Raychaudhuri, Philippe Goyette, Zhi Wei, Clara Abraham, Jean-Paul Achkar, Tariq Ahmad, Leila Amininejad, Ashwin N Ananthakrishnan, Vibeke Andersen, Jane M Andrews, Leonard Baidoo, Tobias Balschun, Peter A Bampton, Alain Bitton, Gabrielle Boucher, Stephan Brand, Carsten Büning, Ariella Cohain, Sven Cichon, Mauro D’Amato, Dirk De Jong, Kathy L Devaney, Marla Dubinsky, Cathryn Edwards, David Ellinghaus, Lynnette R Ferguson, Denis Franchimont, Karin Fransen, Richard Gearry, Michel Georges, Christian Gieger, Jürgen Glas, Talin Haritunians, Ailsa Hart, Chris Hawkey, Matija Hedl, Xinli Hu, Tom H Karlsen, Limas Kupcinskas, Subra Kugathasan, Anna Latiano, Debby Laukens, Ian C Lawrance, Charlie W Lees, Edouard Louis, Gillian Mahy, John Mansfield, Angharad R Morgan, Craig Mowat, William Newman, Orazio Palmieri, Cyriel Y Ponsioen, Uros Potocnik, Natalie J Prescott, Miguel Regueiro, Jerome I Rotter, Richard K Russell, Jeremy D Sanderson, Miquel Sans, Jack Satsangi, Stefan Schreiber, Lisa A Simms, Jurgita Sventoraityte, Stephan R Targan, Kent D Taylor, Mark Tremelling, Hein W Verspaget, Martine De Vos, Cisca Wijmenga, David C Wilson, Juliane Winkelmann, Ramnik J Xavier, Sebastian Zeissig, Bin Zhang, Clarence K Zhang, Hongyu Zhao, The International IBD Genetics Consortium, Mark S Silverberg, Vito Annese, Hakon Hakonarson, Steven R Brant, Graham Radford-Smith, Christopher G Mathew, John D Rioux, Eric E Schadt, Mark J Daly, Andre Franke, Miles Parkes, Severine Vermeire, Jeffrey C Barrett, Judy H Cho

Nature. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Nature. 2012 Nov 1; 491(7422): 119–124. doi: 10.1038/nature11582

PMCID:: PMC3491803

Abstract Article PDF–706K

Select item 31780599.

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

Abstract Article PDF–1.0M

Select item 294516810.

Variation at the NFATC2 Locus Increases the Risk of Thiazolidinedione-Induced Edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) Study

Swneke D. Bailey, Changchun Xie, Ron Do, Alexandre Montpetit, Rafael Diaz, Viswanathan Mohan, Bernard Keavney, Salim Yusuf, Hertzel C. Gerstein, James C. Engert, Sonia Anand, on behalf of the DREAM investigators

Diabetes Care. 2010 Oct; 33(10): 2250–2253. Published online 2010 Jul 13. doi: 10.2337/dc10-0452

PMCID:: PMC2945168

Abstract Article PDF–153K

Select item 277583211.

Gene-centric Association Signals for Lipids and Apolipoproteins Identified via the HumanCVD BeadChip

Philippa J. Talmud, Fotios Drenos, Sonia Shah, Tina Shah, Jutta Palmen, Claudio Verzilli, Tom R. Gaunt, Jacky Pallas, Ruth Lovering, Kawah Li, Juan Pablo Casas, Reecha Sofat, Meena Kumari, Santiago Rodriguez, Toby Johnson, Stephen J. Newhouse, Anna Dominiczak, Nilesh J. Samani, Mark Caulfield, Peter Sever, Alice Stanton, Denis C. Shields, on behalf of the ASCOT investigators, Sandosh Padmanabhan, Olle Melander, Claire Hastie, Christian Delles, on behalf of the NORDIL investigators, Shah Ebrahim, Michael G. Marmot, George Davey Smith, Debbie A. Lawlor, Patricia B. Munroe, for the BRIGHT Consortium, Ian N. Day, Mika Kivimaki, John Whittaker, Steve E. Humphries, Aroon D. Hingorani

Am J Hum Genet. 2009 Nov 13; 85(5): 628–642. doi: 10.1016/j.ajhg.2009.10.014

PMCID:: PMC2775832

Abstract Article PDF–2.8M

Select item 257021012.

Expression of the fast twitch troponin complex, fTnT, fTnI and fTnC, in vascular smooth muscle

Carlos M. Moran, Robert J. Garriock, Melanie K. Miller, Ronald L. Heimark, Ryan E. Mudry, Carol C. Gregorio, Paul A. Krieg

Cell Motil Cytoskeleton. Author manuscript; available in PMC 2009 Aug 1.

Published in final edited form as: Cell Motil Cytoskeleton. 2008 Aug; 65(8): 652–661. doi: 10.1002/cm.20291

PMCID:: PMC2570210

Abstract Article PDF–1.2M

Select item 216839513.

Cooperative control of striated muscle mass and metabolism by MuRF1 and MuRF2

Christian C Witt, Stephanie H Witt, Stefanie Lerche, Dietmar Labeit, Walter Back, Siegfried Labeit

EMBO J. 2008 Jan 23; 27(2): 350–360. Published online 2007 Dec 20. doi: 10.1038/sj.emboj.7601952

PMCID:: PMC2168395

Abstract Article PDF–873K

Select item 118024314.

Mutations in Genes Encoding Fast-Twitch Contractile Proteins Cause Distal Arthrogryposis Syndromes

Sandy S. Sung, Anna-Marie E. Brassington, Kathryn Grannatt, Ann Rutherford, Frank G. Whitby, Patrycja A. Krakowiak, Lynn B. Jorde, John C. Carey, Mike Bamshad

Am J Hum Genet. 2003 Mar; 72(3): 681–690. doi: 10.1086/368294