PMC Links for GEO Profiles (Select 12582990) - PMC

Links from GEO Profiles

Items: 1 to 20 of 82

<< First< Prev

Page of 5

Select item 109632961.

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Sandra Donkervoort, Payam Mohassel, Melanie O'Leary, Devon E. Bonner, Taila Hartley, Nicole Acquaye, Astrid Brull, Tahseen Mozaffar, Mario A. Saporta, David A. Dyment, Jacinda B. Sampson, Sander Pajusalu, Christina Austin‐Tse, Kyle Hurth, Julie S. Cohen, Kirsty McWalter, Jodi Warman‐Chardon, Amy Crunk, A. Reghan Foley, Undiagnosed Diseases Network , Andrew L. Mammen, Matthew T. Wheeler, Anne O'Donnell‐Luria, Carsten G. Bönnemann

Ann Clin Transl Neurol. 2024 Mar; 11(3): 629–640. Published online 2024 Feb 4. doi: 10.1002/acn3.51983

PMCID:: PMC10963296

Abstract Article PDF–6.8M

Select item 105726562.

Disruption of Z-Disc Function Promotes Mechanical Dysfunction in Human Myocardium: Evidence for a Dual Myofilament Modulatory Role by Alpha-Actinin 2

Michelle Rodriguez Garcia, Jeffrey Schmeckpeper, Maicon Landim-Vieira, Isabella Leite Coscarella, Xuan Fang, Weikang Ma, Payton A. Spran, Shengyao Yuan, Lin Qi, Aida Rahimi Kahmini, M. Benjamin Shoemaker, James B. Atkinson, Peter M. Kekenes-Huskey, Thomas C. Irving, Prescott Bryant Chase, Björn C. Knollmann, Jose Renato Pinto

Int J Mol Sci. 2023 Oct; 24(19): 14572. Published online 2023 Sep 26. doi: 10.3390/ijms241914572

PMCID:: PMC10572656

Abstract Article PDF–7.5M

Select item 101516153.

Cross-linking mass spectrometry discovers, evaluates, and corroborates structures and protein–protein interactions in the human cell

Tara K. Bartolec, Xabier Vázquez-Campos, Alexander Norman, Clement Luong, Marcus Johnson, Richard J. Payne, Marc R. Wilkins, Joel P. Mackay, Jason K. K. Low

Proc Natl Acad Sci U S A. 2023 Apr 25; 120(17): e2219418120. Published online 2023 Apr 18. doi: 10.1073/pnas.2219418120

PMCID:: PMC10151615

Abstract Article PDF–2.9M

Select item 100877784.

Mutation update for the ACTN2 gene

Johanna Ranta‐aho, Montse Olive, Marie Vandroux, Giorgia Roticiani, Cristina Dominguez, Mridul Johari, Annalaura Torella, Johann Böhm, Janina Turon, Vincenzo Nigro, Peter Hackman, Jocelyn Laporte, Bjarne Udd, Marco Savarese

Hum Mutat. 2022 Dec; 43(12): 1745–1756. Published online 2022 Sep 27. doi: 10.1002/humu.24470

PMCID:: PMC10087778

Abstract Article PDF–1.2M

Select item 98519735.

A comprehensive SARS-CoV-2–human protein–protein interactome reveals COVID-19 pathobiology and potential host therapeutic targets

Yadi Zhou, Yuan Liu, Shagun Gupta, Mauricio I. Paramo, Yuan Hou, Chengsheng Mao, Yuan Luo, Julius Judd, Shayne Wierbowski, Marta Bertolotti, Mriganka Nerkar, Lara Jehi, Nir Drayman, Vlad Nicolaescu, Haley Gula, Savaş Tay, Glenn Randall, Peihui Wang, John T. Lis, Cédric Feschotte, Serpil C. Erzurum, Feixiong Cheng, Haiyuan Yu

Nat Biotechnol. Author manuscript; available in PMC 2023 Jan 20.

Published in final edited form as: Nat Biotechnol. 2023 Jan; 41(1): 128–139. Published online 2022 Oct 10. doi: 10.1038/s41587-022-01474-0

PMCID:: PMC9851973

Abstract Article PDF–4.0M

Select item 94546846.

ACTN2 Mutant Causes Proteopathy in Human iPSC-Derived Cardiomyocytes

Antonia T. L. Zech, Maksymilian Prondzynski, Sonia R. Singh, Niels Pietsch, Ellen Orthey, Erda Alizoti, Josefine Busch, Alexandra Madsen, Charlotta S. Behrens, Moritz Meyer-Jens, Giulia Mearini, Marc D. Lemoine, Elisabeth Krämer, Diogo Mosqueira, Sanamjeet Virdi, Daniela Indenbirken, Maren Depke, Manuela Gesell Salazar, Uwe Völker, Ingke Braren, William T. Pu, Thomas Eschenhagen, Elke Hammer, Saskia Schlossarek, Lucie Carrier

Cells. 2022 Sep; 11(17): 2745. Published online 2022 Sep 2. doi: 10.3390/cells11172745

PMCID:: PMC9454684

Abstract Article PDF–2.7M

Select item 91197367.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

Select item 86924488.

Mono- and Bi-allelic Protein Truncating Variants in Alpha-actinin 2 cause Cardiomyopathy through Distinct Mechanisms

Malene E. Lindholm, David Jimenez-Morales, Han Zhu, Kinya Seo, David Amar, Chunli Zhao, Archana Raja, Roshni Madhvani, Sarah Abramowitz, Cedric Espenel, Shirley Sutton, Colleen Caleshu, Gerald J. Berry, Kara S. Motonaga, Kyla Dunn, Julia Platt, Euan A. Ashley, Matthew T. Wheeler

Circ Genom Precis Med. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Circ Genom Precis Med. 2021 Dec; 14(6): e003419. Published online 2021 Nov 22. doi: 10.1161/CIRCGEN.121.003419

PMCID:: PMC8692448

Abstract Article PDF–1.8M

Select item 83641819.

Protein interaction landscapes revealed by advanced in vivo cross-linking–mass spectrometry

Andrew Wheat, Clinton Yu, Xiaorong Wang, Anthony M. Burke, Ilan E. Chemmama, Robyn M. Kaake, Peter Baker, Scott D. Rychnovsky, Jing Yang, Lan Huang

Proc Natl Acad Sci U S A. 2021 Aug 10; 118(32): e2023360118. Published online 2021 Aug 4. doi: 10.1073/pnas.2023360118

PMCID:: PMC8364181

Abstract Article PDF–3.0M

Select item 816503010.

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 742732711.

Kinase Interaction Network Expands Functional and Disease Roles of Human Kinases

Marija Buljan, Rodolfo Ciuffa, Audrey van Drogen, Anton Vichalkovski, Martin Mehnert, George Rosenberger, Sohyon Lee, Markku Varjosalo, Lucia Espona Pernas, Vincent Spegg, Berend Snijder, Ruedi Aebersold, Matthias Gstaiger

Mol Cell. 2020 Aug 6; 79(3): 504–520.e9. doi: 10.1016/j.molcel.2020.07.001

PMCID:: PMC7427327

Abstract Article

Select item 737304812.

Virus-Host Interactome and Proteomic Survey Reveal Potential Virulence Factors Influencing SARS-CoV-2 Pathogenesis

Jingjiao Li, Mingquan Guo, Xiaoxu Tian, Xin Wang, Xing Yang, Ping Wu, Chengrong Liu, Zixuan Xiao, Yafei Qu, Yue Yin, Chunxia Wang, Yucai Zhang, Zhaoqin Zhu, Zhenshan Liu, Chao Peng, Tongyu Zhu, Qiming Liang

Med (N Y) 2021 Jan 15; 2(1): 99–112.e7. Published online 2020 Jul 21. doi: 10.1016/j.medj.2020.07.002

PMCID:: PMC7373048

Abstract Article PDF–3.8M

Select item 732206713.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 716998314.

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 708715115.

Interaction between SARS-CoV helicase and a multifunctional cellular protein (Ddx5) revealed by yeast and mammalian cell two-hybrid systems

Jin-Yan Chen, Wan-Nan Chen, Kwok-Man Vincent Poon, Bo-Jian Zheng, Xu Lin, Yong-Xiang Wang, Yu-Mei Wen

Arch Virol. 2009; 154(3): 507–512. Published online 2009 Feb 18. doi: 10.1007/s00705-009-0323-y

PMCID:: PMC7087151

Abstract Article PDF–205K

Select item 704876016.

Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure

Marios Arvanitis, Emmanouil Tampakakis, Yanxiao Zhang, Wei Wang, Adam Auton, 23andMe Research Team, Diptavo Dutta, Stephanie Glavaris, Ali Keramati, Nilanjan Chatterjee, Neil C. Chi, Bing Ren, Wendy S. Post, Alexis Battle

Nat Commun. 2020; 11: 1122. Published online 2020 Feb 28. doi: 10.1038/s41467-020-14843-7

PMCID:: PMC7048760

Abstract Article PDF–2.6M

Select item 679366417.

Brain-Specific Regulator of G-Protein Signaling 9-2 Selectively Interacts with α-Actinin-2 to Regulate Calcium-Dependent Inactivation of NMDA Receptors

Mohamad Bouhamdan, Hai-Dun Yan, Xiu-Hua Yan, Michael J. Bannon, Rodrigo Andrade

J Neurosci. 2006 Mar 1; 26(9): 2522–2530. doi: 10.1523/JNEUROSCI.4083-05.2006

PMCID:: PMC6793664

Abstract Article PDF–440K

Select item 678602518.

Interactions of Calmodulin and α-Actinin with the NR1 Subunit Modulate Ca²⁺-Dependent Inactivation of NMDA Receptors

Johannes J. Krupp, Bryce Vissel, Christopher G. Thomas, Stephen F. Heinemann, Gary L. Westbrook

J Neurosci. 1999 Feb 15; 19(4): 1165–1178. doi: 10.1523/JNEUROSCI.19-04-01165.1999

PMCID:: PMC6786025

Abstract Article PDF–411K

Select item 677813719.

The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis

Luisa Capalbo, Zuni I. Bassi, Marco Geymonat, Sofia Todesca, Liviu Copoiu, Anton J. Enright, Giuliano Callaini, Maria Giovanna Riparbelli, Lu Yu, Jyoti S. Choudhary, Enrico Ferrero, Sally Wheatley, Max E. Douglas, Masanori Mishima, Pier Paolo D’Avino

Nat Commun. 2019; 10: 4513. Published online 2019 Oct 4. doi: 10.1038/s41467-019-12507-9

PMCID:: PMC6778137

Abstract Article PDF–7.8M

Select item 674264620.

Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations

Robert Fragoza, Jishnu Das, Shayne D. Wierbowski, Jin Liang, Tina N. Tran, Siqi Liang, Juan F. Beltran, Christen A. Rivera-Erick, Kaixiong Ye, Ting-Yi Wang, Li Yao, Matthew Mort, Peter D. Stenson, David N. Cooper, Xiaomu Wei, Alon Keinan, John C. Schimenti, Andrew G. Clark, Haiyuan Yu

Nat Commun. 2019; 10: 4141. Published online 2019 Sep 12. doi: 10.1038/s41467-019-11959-3

PMCID:: PMC6742646

Abstract Article PDF–1.2M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from GEO Profiles

Items: 1 to 20 of 82

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity