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Select item 80583071.

Homozygous SPEG Mutation Is Associated With Isolated Dilated Cardiomyopathy

Mohammed Almannai, Shiyu Luo, Eissa Faqeih, Fuad Al Mutairi, Qifei Li, Pankaj B. Agrawal

Circ Genom Precis Med. 2021 Apr; 14(2): e003310. Published online 2021 Apr 2. doi: 10.1161/CIRCGEN.120.003310

PMCID:: PMC8058307

Article PDF–236K

Select item 75716912.

A Novel Recessive Mutation in SPEG Causes Early Onset Dilated Cardiomyopathy

Aviva Levitas, Emad Muhammad, Yuan Zhang, Isaac Perea Gil, Ricardo Serrano, Nashielli Diaz, Maram Arafat, Alexandra A. Gavidia, Michael S. Kapiloff, Mark Mercola, Yoram Etzion, Ruti Parvari, Ioannis Karakikes

PLoS Genet. 2020 Sep; 16(9): e1009000. Published online 2020 Sep 14. doi: 10.1371/journal.pgen.1009000

PMCID:: PMC7571691

Abstract Article PDF–2.7M

Select item 72882473.

Novel SPEG mutations in congenital myopathies: Genotype-phenotype correlations

Anita E. Qualls, Sandra Donkervoort, Johanna C. Herkert, Alissa M. D’Gama, Diana Bharucha-Goebel, James Collins, Katherine R. Chao, A. Reghan Foley, Mirthe H. Schoots, Jan D.H. Jongbloed, Carsten G. Bönnemann, Pankaj B. Agrawal

Muscle Nerve. Author manuscript; available in PMC 2020 Jun 11.

Published in final edited form as: Muscle Nerve. 2019 Mar; 59(3): 357–362. Published online 2018 Nov 28. doi: 10.1002/mus.26378

PMCID:: PMC7288247

Abstract Article PDF–549K

Select item 70316094.

Novel SPEG variant cause centronuclear myopathy in China

Jia Tang, Wei Ma, Yangran Chen, Runze Jiang, Qinlong Zeng, Jieliang Tan, Hongqing Jiang, Qing Li, Victor W. Zhang, Jing Wang, Hui Tang, Liangping Luo

J Clin Lab Anal. 2020 Feb; 34(2): e23054. Published online 2019 Oct 18. doi: 10.1002/jcla.23054

PMCID:: PMC7031609

Abstract Article PDF–1.1M

Select item 13523705.

X-ray structure of engineered human Aortic Preferentially Expressed Protein-1 (APEG-1)

Babu A Manjasetty, Frank H Niesen, Christoph Scheich, Yvette Roske, Frank Goetz, Joachim Behlke, Volker Sievert, Udo Heinemann, Konrad Büssow

BMC Struct Biol. 2005; 5: 21. Published online 2005 Dec 14. doi: 10.1186/1472-6807-5-21

PMCID:: PMC1352370

Abstract Article PDF–881K

Select item 69857886.

Striated muscle-specific serine/threonine-protein kinase beta segregates with high versus low responsiveness to endurance exercise training

Denis Kusić, Joanne Connolly, Heikki Kainulainen, Ekaterina A. Semenova, Oleg V. Borisov, Andrey K. Larin, Daniil V. Popov, Edward V. Generozov, Ildus I. Ahmetov, Steven L. Britton, Lauren G. Koch, Jatin G. Burniston

Physiol Genomics. 2020 Jan 1; 52(1): 35–46. Published online 2019 Dec 2. doi: 10.1152/physiolgenomics.00103.2019

PMCID:: PMC6985788

Abstract Article

Select item 52188547.

‘Striated Muscle Preferentially Expressed Protein Kinase’ (SPEG) Is Essential for Cardiac Function by Regulating Junctional Membrane Complex Activity

Ann P. Quick, Qiongling Wang, Leonne E. Philippen, Giselle Barreto-Torres, David Y. Chiang, David Beavers, Guoliang Wang, Maha Khalid, Julia O. Reynolds, Hannah M. Campbell, Jordan Showell, Mark D. McCauley, Arjen Scholten, Xander H. T. Wehrens

Circ Res. Author manuscript; available in PMC 2018 Jan 6.

Published in final edited form as: Circ Res. 2017 Jan 6; 120(1): 110–119. Published online 2016 Oct 11. doi: 10.1161/CIRCRESAHA.116.309977

PMCID:: PMC5218854

Abstract Article PDF–2.2M

Select item 41294068.

SPEG Interacts with Myotubularin, and Its Deficiency Causes Centronuclear Myopathy with Dilated Cardiomyopathy

Pankaj B. Agrawal, Christopher R. Pierson, Mugdha Joshi, Xiaoli Liu, Gianina Ravenscroft, Behzad Moghadaszadeh, Tiffany Talabere, Marissa Viola, Lindsay C. Swanson, Göknur Haliloğlu, Beril Talim, Kyle S. Yau, Richard J.N. Allcock, Nigel G. Laing, Mark A. Perrella, Alan H. Beggs

Am J Hum Genet. 2014 Aug 7; 95(2): 218–226. doi: 10.1016/j.ajhg.2014.07.004

PMCID:: PMC4129406

Abstract Article PDF–4.0M

Select item 75088009.

Loss of SPEG Inhibitory Phosphorylation of RyR2 Promotes Atrial Fibrillation

Hannah M. Campbell, Ann P. Quick, Issam Abu-Taha, David Y. Chiang, Carlos F. Kramm, Tarah A. Word, Sören Brandenburg, Mohit Hulsurkar, Katherina M. Alsina, Hui-Bin Liu, Brian Martin, Dennis Uhlenkamp, Oliver M. Moore, Satadru K. Lahiri, Eleonora Corradini, Markus Kamler, Albert J.R. Heck, Stephan E. Lehnart, Dobromir Dobrev, Xander H.T. Wehrens

Circulation. Author manuscript; available in PMC 2021 Sep 22.

Published in final edited form as: Circulation. 2020 Sep 22; 142(12): 1159–1172. Published online 2020 Jul 20. doi: 10.1161/CIRCULATIONAHA.120.045791

PMCID:: PMC7508800

Abstract Article PDF–2.4M

Select item 674133010.

Genomic rearrangements on VCAM1, SELE, APEG1 and AIF1 loci in atherosclerosis

D. A. Arvanitis, G. A. Flouris, D. A. Spandidos

J Cell Mol Med. 2005 Jan; 9(1): 153–159. Published online 2007 May 1. doi: 10.1111/j.1582-4934.2005.tb00345.x

PMCID:: PMC6741330

Abstract Article PDF–3.1M

Select item 338606911.

Functional genomics identifies therapeutic targets for MYC-driven cancer

Masafumi Toyoshima, Heather L. Howie, Maki Imakura, Ryan M. Walsh, James E. Annis, Aaron N. Chang, Jason Frazier, B. Nelson Chau, Andrey Loboda, Peter S. Linsley, Michele A. Cleary, Julie R. Park, Carla Grandori

Proc Natl Acad Sci U S A. 2012 Jun 12; 109(24): 9545–9550. Published online 2012 May 23. doi: 10.1073/pnas.1121119109

PMCID:: PMC3386069

Abstract Article PDF–940K

Select item 304781412.

Proteomic profiling of Myc-associated proteins

Pooja Agrawal, Kebing Yu, Arthur R Salomon, John M Sedivy

Cell Cycle. 2010 Dec 15; 9(24): 4908–4921. Published online 2010 Dec 15. doi: 10.4161/cc.9.24.14199

PMCID:: PMC3047814

Abstract Article PDF–1.6M

Select item 992246813.

FBXO22 promotes leukemogenesis by targeting BACH1 in MLL-rearranged acute myeloid leukemia

Xiao-Na Zhu, Yu-Sheng Wei, Qian Yang, Hao-Ran Liu, Zhe Zhi, Di Zhu, Li Xia, Deng-Li Hong, Yun Yu, Guo-Qiang Chen

J Hematol Oncol. 2023; 16: 9. Published online 2023 Feb 11. doi: 10.1186/s13045-023-01400-0

PMCID:: PMC9922468

Abstract Article PDF–4.9M

Select item 775805014.

In silico APC/C substrate discovery reveals cell cycle-dependent degradation of UHRF1 and other chromatin regulators

Jennifer L. Franks, Raquel C. Martinez-Chacin, Xianxi Wang, Rochelle L. Tiedemann, Thomas Bonacci, Rajarshi Choudhury, Derek L. Bolhuis, Taylor P. Enrico, Ryan D. Mouery, Jeffrey S. Damrauer, Feng Yan, Joseph S. Harrison, M. Ben Major, Katherine A. Hoadley, Aussie Suzuki, Scott B. Rothbart, Nicholas G. Brown, Michael J. Emanuele

PLoS Biol. 2020 Dec; 18(12): e3000975. Published online 2020 Dec 11. doi: 10.1371/journal.pbio.3000975

PMCID:: PMC7758050

Abstract Article PDF–4.2M

Select item 926261415.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

Select item 1056587616.

Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates

Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert

Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644

PMCID:: PMC10565876

Abstract Article PDF–3.7M

Select item 319082617.

Interactions of Pathological Hallmark Proteins: TUBULIN POLYMERIZATION PROMOTING PROTEIN/p25, β-AMYLOID, AND α-SYNUCLEIN

Judit Oláh, Orsolya Vincze, Dezső Virók, Dóra Simon, Zsolt Bozsó, Natália Tőkési, István Horváth, Emma Hlavanda, János Kovács, Anna Magyar, Mária Szűcs, Ferenc Orosz, Botond Penke, Judit Ovádi

J Biol Chem. 2011 Sep 30; 286(39): 34088–34100. Published online 2011 Aug 8. doi: 10.1074/jbc.M111.243907

PMCID:: PMC3190826

Abstract Article PDF–5.7M

Select item 294516818.

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 277583219.

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 426658820.

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

Abstract Article PDF–3.1M

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