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Items: 1 to 20 of 30

1.
Identification of motif-based interactions between SARS-CoV-2 protein domains and human peptide ligands pinpoint antiviral targets
Filip Mihalič, Caroline Benz, Eszter Kassa, Richard Lindqvist, Leandro Simonetti, Raviteja Inturi, Hanna Aronsson, Eva Andersson, Celestine N. Chi, Norman E. Davey, Anna K. Överby, Per Jemth, Ylva Ivarsson
Nat Commun. 2023; 14: 5636. Published online 2023 Sep 13. doi: 10.1038/s41467-023-41312-8
PMCID:
PMC10499821
AbstractArticlePDF–2.6M
2.
Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies
Johanna Krüger, Julian Schubert, Josua Kegele, Audrey Labalme, Miaomiao Mao, Jacqueline Heighway, Guiscard Seebohm, Pu Yan, Mahmoud Koko, Kezban Aslan-Kara, Hande Caglayan, Bernhard J. Steinhoff, Yvonne G. Weber, Pascale Keo-Kosal, Samuel F. Berkovic, Michael S. Hildebrand, Steven Petrou, Roland Krause, Patrick May, Gaetan Lesca, Snezana Maljevic, Holger Lerche
eBioMedicine. 2022 Oct; 84: 104244. Published online 2022 Sep 9. doi: 10.1016/j.ebiom.2022.104244
PMCID:
PMC9471468
AbstractArticlePDF–2.5M
3.
Human KCNQ5 de novo mutations underlie epilepsy and intellectual disability
Aguan D. Wei, Paul Wakenight, Theresa A. Zwingman, Angela M. Bard, Nikhil Sahai, Marjolein H. Willemsen, Helenius J. Schelhaas, Alexander P. A. Stegmann, Judith S. Verhoeven, Stella A. de Man, Marja W. Wessels, Tjitske Kleefstra, Deepali N. Shinde, Katherine L. Helbig, Alice Basinger, Victoria F. Wagner, David Rodriguez-Buritica, Emily Bryant, John J. Millichap, Kathleen J. Millen, William B. Dobyns, Jan-Marino Ramirez, Franck K. Kalume
J Neurophysiol. 2022 Jul 1; 128(1): 40–61. Published online 2022 May 18. doi: 10.1152/jn.00509.2021
PMCID:
PMC9236882
AbstractArticle
4.
Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
Mario Nappi, Vincenzo Barrese, Lidia Carotenuto, Gaetan Lesca, Audrey Labalme, Dorothee Ville, Thomas Smol, Mélanie Rama, Anne Dieux-Coeslier, Clotilde Rivier-Ringenbach, Maria Virginia Soldovieri, Paolo Ambrosino, Ilaria Mosca, Michael Pusch, Francesco Miceli, Maurizio Taglialatela
Proc Natl Acad Sci U S A. 2022 Apr 12; 119(15): e2116887119. Published online 2022 Apr 4. doi: 10.1073/pnas.2116887119
PMCID:
PMC9169635
AbstractArticlePDF–1.7M
5.
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
AbstractArticlePDF–2.2M
6.
Remodeling of Kv7.1 and Kv7.5 Expression in Vascular Tumors
Clara Serrano-Novillo, Anna Oliveras, Joan Carles Ferreres, Enric Condom, Antonio Felipe
Int J Mol Sci. 2020 Sep; 21(17): 6019. Published online 2020 Aug 21. doi: 10.3390/ijms21176019
PMCID:
PMC7503939
AbstractArticlePDF–2.7M
7.
Histone Interaction Landscapes Visualized by Crosslinking Mass Spectrometry in Intact Cell Nuclei
Domenico Fasci, Hugo van Ingen, Richard A. Scheltema, Albert J. R. Heck
Mol Cell Proteomics. 2018 Oct; 17(10): 2018–2033. Published online 2018 Jul 18. doi: 10.1074/mcp.RA118.000924
PMCID:
PMC6166682
AbstractArticlePDF–3.8M
8.
Mechanisms of PKA-Dependent Potentiation of Kv7.5 Channel Activity in Human Airway Smooth Muscle Cells
Lyubov I. Brueggemann, Leanne L. Cribbs, Jeffrey Schwartz, Minhua Wang, Ahmed Kouta, Kenneth L. Byron
Int J Mol Sci. 2018 Aug; 19(8): 2223. Published online 2018 Jul 30. doi: 10.3390/ijms19082223
PMCID:
PMC6121446
AbstractArticlePDF–1.5M
9.
Direct neurotransmitter activation of voltage-gated potassium channels
Rían W. Manville, Maria Papanikolaou, Geoffrey W. Abbott
Nat Commun. 2018; 9: 1847. Published online 2018 May 10. doi: 10.1038/s41467-018-04266-w
PMCID:
PMC5945843
AbstractArticlePDF–2.7M
10.
Genetic Association Study of KCNQ5 Polymorphisms with High Myopia
Xuan Liao, Maurice K. H. Yap, Kim Hung Leung, Patrick Y. P. Kao, Long Qian Liu, Shea Ping Yip
Biomed Res Int. 2017; 2017: 3024156. Published online 2017 Aug 13. doi: 10.1155/2017/3024156
PMCID:
PMC5572591
AbstractArticlePDF–652K
11.
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
AbstractArticlePDF–2.7M
12.
Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy
Anna Lehman, Samrat Thouta, Grazia M.S. Mancini, Sakkubai Naidu, Marjon van Slegtenhorst, Kirsty McWalter, Richard Person, Jill Mwenifumbo, Ramona Salvarinova, CAUSES Study, EPGEN Study, Ilaria Guella, Marna B. McKenzie, Anita Datta, Mary B. Connolly, Somayeh Mojard Kalkhoran, Damon Poburko, Jan M. Friedman, Matthew J. Farrer, Michelle Demos, Sonal Desai, Thomas Claydon
Am J Hum Genet. 2017 Jul 6; 101(1): 65–74. Published online 2017 Jun 29. doi: 10.1016/j.ajhg.2017.05.016
PMCID:
PMC5501867
AbstractArticlePDF–1.7M
13.
Genome-wide CRISPR screen identifies HNRNPL as a prostate cancer dependency regulating RNA splicing
Teng Fei, Yiwen Chen, Tengfei Xiao, Wei Li, Laura Cato, Peng Zhang, Maura B. Cotter, Michaela Bowden, Rosina T. Lis, Shuang G. Zhao, Qiu Wu, Felix Y. Feng, Massimo Loda, Housheng Hansen He, X. Shirley Liu, Myles Brown
Proc Natl Acad Sci U S A. 2017 Jun 27; 114(26): E5207–E5215. Published online 2017 Jun 13. doi: 10.1073/pnas.1617467114
PMCID:
PMC5495225
AbstractArticlePDF–1.3M
14.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
15.
Application of a Combination of a Knowledge-Based Algorithm and 2-Stage Screening to Hypothesis-Free Genomic Data on Irinotecan-Treated Patients for Identification of a Candidate Single Nucleotide Polymorphism Related to an Adverse Effect
Hiro Takahashi, Kimie Sai, Yoshiro Saito, Nahoko Kaniwa, Yasuhiro Matsumura, Tetsuya Hamaguchi, Yasuhiro Shimada, Atsushi Ohtsu, Takayuki Yoshino, Toshihiko Doi, Haruhiro Okuda, Risa Ichinohe, Anna Takahashi, Ayano Doi, Yoko Odaka, Misuzu Okuyama, Nagahiro Saijo, Jun-ichi Sawada, Hiromi Sakamoto, Teruhiko Yoshida
PLoS One. 2014; 9(8): e105160. Published online 2014 Aug 15. doi: 10.1371/journal.pone.0105160
PMCID:
PMC4134257
AbstractArticlePDF–1015K
16.
Differential Protein Kinase C-dependent Modulation of Kv7.4 and Kv7.5 Subunits of Vascular Kv7 Channels
Lioubov I. Brueggemann, Alexander R. Mackie, Leanne L. Cribbs, Jessica Freda, Abhishek Tripathi, Matthias Majetschak, Kenneth L. Byron
J Biol Chem. 2014 Jan 24; 289(4): 2099–2111. Published online 2013 Dec 2. doi: 10.1074/jbc.M113.527820
PMCID:
PMC3900957
AbstractArticlePDF–1.7M
17.
Genome-wide meta-analyses of multi-ethnic cohorts identify multiple new susceptibility loci for refractive error and myopia
Virginie J.M. Verhoeven, Pirro G. Hysi, Robert Wojciechowski, Qiao Fan, Jeremy A. Guggenheim, René Höhn, Stuart MacGregor, Alex W. Hewitt, Abhishek Nag, Ching-Yu Cheng, Ekaterina Yonova-Doing, Xin Zhou, M. Kamran Ikram, Gabriëlle H.S. Buitendijk, George McMahon, John P. Kemp, Beate St. Pourcain, Claire L. Simpson, Kari-Matti Mäkelä, Terho Lehtimäki, Mika Kähönen, Andrew D. Paterson, S. Mohsen Hosseini, Hoi Suen Wong, Liang Xu, Jost B. Jonas, Olavi Pärssinen, Juho Wedenoja, Shea Ping Yip, Daniel W. H. Ho, Chi Pui Pang, Li Jia Chen, Kathryn P. Burdon, Jamie E. Craig, Barbara E. K. Klein, Ronald Klein, Toomas Haller, Andres Metspalu, Chiea-Chuen Khor, E-Shyong Tai, Tin Aung, Eranga Vithana, Wan-Ting Tay, Veluchamy A. Barathi, CREAM, Peng Chen, Ruoying Li, Jiemin Liao, Yingfeng Zheng, Rick T. Ong, Angela Döring, DCCT/EDIC Research Group, David M. Evans, Nicholas J. Timpson, Annemieke J.M.H. Verkerk, Thomas Meitinger, Olli Raitakari, Felicia Hawthorne, Tim D. Spector, Lennart C. Karssen, Mario Pirastu, Federico Murgia, Wei Ang, WTCCC2, Aniket Mishra, Grant W. Montgomery, Craig E. Pennell, Phillippa M. Cumberland, Ioana Cotlarciuc, Paul Mitchell, Jie Jin Wang, Maria Schache, Sarayut Janmahasathian, Robert P. Igo, Jr, Jonathan H. Lass, Emily Chew, Sudha K. Iyengar, the Fuchs’ Genetics Multi-Center Study Group, Theo G.M.F. Gorgels, Igor Rudan, Caroline Hayward, Alan F. Wright, Ozren Polasek, Zoran Vatavuk, James F. Wilson, Brian Fleck, Tanja Zeller, Alireza Mirshahi, Christian Müller, Andre’ G. Uitterlinden, Fernando Rivadeneira, Johannes R. Vingerling, Albert Hofman, Ben A. Oostra, Najaf Amin, Arthur A.B. Bergen, Yik-Ying Teo, Jugnoo S. Rahi, Veronique Vitart, Cathy Williams, Paul N. Baird, Tien-Yin Wong, Konrad Oexle, Norbert Pfeiffer, David A. Mackey, Terri L. Young, Cornelia M. van Duijn, Seang-Mei Saw, Joan E. Bailey Wilson, Dwight Stambolian, Caroline C. Klaver, Christopher J. Hammond
Nat Genet. Author manuscript; available in PMC 2013 Sep 1.
Published in final edited form as: Nat Genet. 2013 Mar; 45(3): 314–318. Published online 2013 Feb 10. doi: 10.1038/ng.2554
Correction in:
volume 45 on page 712
PMCID:
PMC3740568
AbstractArticlePDF–575K
18.
Cytoplasmic Metadherin (MTDH) Provides Survival Advantage under Conditions of Stress by Acting as RNA-binding Protein
Xiangbing Meng, Danlin Zhu, Shujie Yang, Xinjun Wang, Zhi Xiong, Yuping Zhang, Pavla Brachova, Kimberly K. Leslie
J Biol Chem. 2012 Feb 10; 287(7): 4485–4491. Published online 2011 Dec 23. doi: 10.1074/jbc.C111.291518
PMCID:
PMC3281628
AbstractArticlePDF–2.0M
19.
CTCF Mediates the Cell-Type Specific Spatial Organization of the Kcnq5 Locus and the Local Gene Regulation
Licheng Ren, Yang Wang, Minglei Shi, Xiaoning Wang, Zhong Yang, Zhihu Zhao
PLoS One. 2012; 7(2): e31416. Published online 2012 Feb 8. doi: 10.1371/journal.pone.0031416
Correction in:
PLoS One. 2012; 7(3): 10.1371/annotation/c6d76c92-dc6c-4102-86c0-03b996376778.
PMCID:
PMC3275579
AbstractArticlePDF–531K
20.
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

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