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Select item 80816131.

Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients

Tayyaba Saleem, Arooj Mustafa, Nadeem Sheikh, Maryam Mukhtar, Mavra Irfan, Saira Kainat Suqaina

Biomed Res Int. 2021; 2021: 7509825. Published online 2021 Apr 20. doi: 10.1155/2021/7509825

PMCID:: PMC8081613

Abstract Article PDF–1.0M

Select item 46072682.

DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy

Dongsheng Bai, Julia N. Bailey, Reyna M. Durón, María E. Alonso, Marco T. Medina, Iris E. Martínez-Juárez, Toshimitsu Suzuki, Jesús Machado-Salas, Ricardo Ramos-Ramírez, Miyabi Tanaka, Ramón H. Castro Ortega, Minerva López-Ruiz, Astrid Rasmussen, Adriana Ochoa, Aurelio Jara-Prado, Kazuhiro Yamakawa, Antonio V. Delgado-Escueta

Epilepsia. Author manuscript; available in PMC 2015 Oct 15.

Published in final edited form as: Epilepsia. 2009 May; 50(5): 1184–1190. doi: 10.1111/j.1528-1167.2008.01762.x

PMCID:: PMC4607268

Abstract Article PDF–270K

Select item 43542993.

Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry

Ryan L Subaran, Juliette M Conte, William C L Stewart, David A Greenberg

Epilepsia. 2015 Feb; 56(2): 188–194. Published online 2014 Dec 8. doi: 10.1111/epi.12864

PMCID:: PMC4354299

Abstract Article PDF–266K

Select item 48170864.

Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

Toshimitsu Suzuki, Hiroyuki Miyamoto, Takashi Nakahari, Ikuyo Inoue, Takahiro Suemoto, Bin Jiang, Yuki Hirota, Shigeyoshi Itohara, Takaomi C. Saido, Tadaharu Tsumoto, Kazunobu Sawamoto, Takao K. Hensch, Antonio V. Delgado-Escueta, Kazuhiro Yamakawa

Hum Mol Genet. 2009 Mar 15; 18(6): 1099–1109. Published online 2009 Jan 15. doi: 10.1093/hmg/ddp006

PMCID:: PMC4817086

Abstract Article PDF–381K

Select item 34905175.

Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development

Laurence de Nijs, Nathalie Wolkoff, Bernard Coumans, Antonio V. Delgado-Escueta, Thierry Grisar, Bernard Lakaye

Hum Mol Genet. 2012 Dec 1; 21(23): 5106–5117. Published online 2012 Aug 27. doi: 10.1093/hmg/dds356

PMCID:: PMC3490517

Abstract Article PDF–748K

Select item 43776346.

Interactome of the negative regulator of nuclear import BRCA1-binding protein 2

Shadma Fatima, Kylie M. Wagstaff, Kate L. Loveland, David A. Jans

Sci Rep. 2015; 5: 9459. Published online 2015 Mar 30. doi: 10.1038/srep09459

PMCID:: PMC4377634

Abstract Article PDF–12M

Select item 95648257.

SPACA9 is a lumenal protein of human ciliary singlet and doublet microtubules

Miao Gui, Jacob T. Croft, Davide Zabeo, Vajradhar Acharya, Justin M. Kollman, Thomas Burgoyne, Johanna L. Höög, Alan Brown

Proc Natl Acad Sci U S A. 2022 Oct 11; 119(41): e2207605119. Published online 2022 Oct 3. doi: 10.1073/pnas.2207605119

PMCID:: PMC9564825

Abstract Article PDF–3.6M

Select item 88646958.

Multifaceted Regulation of Akt by Diverse C-Terminal Post-translational Modifications

Antonieta L. Salguero, Maggie Chen, Aaron T. Balana, Nam Chu, Hanjie Jiang, Brad A. Palanski, Hwan Bae, Katharine M. Wright, Sara Nathan, Heng Zhu, Sandra B. Gabelli, Matthew R. Pratt, Philip A. Cole

ACS Chem Biol. Author manuscript; available in PMC 2022 Feb 23.

Published in final edited form as: ACS Chem Biol. 2022 Jan 21; 17(1): 68–76. Published online 2021 Dec 23. doi: 10.1021/acschembio.1c00632

PMCID:: PMC8864695

Abstract Article PDF–1.1M

Select item 46496589.

Dependence of Human Colorectal Cells Lacking the FBW7 Tumor Suppressor on the Spindle Assembly Checkpoint

Melanie L. Bailey, Tejomayee Singh, Patricia Mero, Jason Moffat, Philip Hieter

Genetics. 2015 Nov; 201(3): 885–895. Published online 2015 Sep 8. doi: 10.1534/genetics.115.180653

PMCID:: PMC4649658

Abstract Article PDF–1.8M

Select item 438092810.

Phospho-tyrosine dependent protein–protein interaction network

Arndt Grossmann, Nouhad Benlasfer, Petra Birth, Anna Hegele, Franziska Wachsmuth, Luise Apelt, Ulrich Stelzl

Mol Syst Biol. 2015 Mar; 11(3): 0794. Published online 2015 Mar 26. doi: 10.15252/msb.20145968

PMCID:: PMC4380928

Abstract Article PDF–1.9M

Select item 444121511.

Widespread Macromolecular Interaction Perturbations in Human Genetic Disorders

Nidhi Sahni, Song Yi, Mikko Taipale, Juan I. Fuxman Bass, Jasmin Coulombe-Huntington, Fan Yang, Jian Peng, Jochen Weile, Georgios I. Karras, Yang Wang, István A. Kovács, Atanas Kamburov, Irina Krykbaeva, Mandy H. Lam, George Tucker, Vikram Khurana, Amitabh Sharma, Yang-Yu Liu, Nozomu Yachie, Quan Zhong, Yun Shen, Alexandre Palagi, Adriana San-Miguel, Changyu Fan, Dawit Balcha, Amelie Dricot, Daniel M. Jordan, Jennifer M. Walsh, Akash A. Shah, Xinping Yang, Ani Stoyanova, Alex Leighton, Michael A. Calderwood, Yves Jacob, Michael E. Cusick, Kourosh Salehi-Ashtiani, Luke J. Whitesell, Shamil Sunyaev, Bonnie Berger, Albert-László Barabási, Benoit Charloteaux, David E. Hill, Tong Hao, Frederick P. Roth, Yu Xia, Albertha J.M. Walhout, Susan Lindquist, Marc Vidal

Cell. Author manuscript; available in PMC 2016 Apr 23.

Published in final edited form as: Cell. 2015 Apr 23; 161(3): 647–660. doi: 10.1016/j.cell.2015.04.013

PMCID:: PMC4441215

Abstract Article PDF–1.2M

Select item 486917012.

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Karsten Boldt, Jeroen van Reeuwijk, Qianhao Lu, Konstantinos Koutroumpas, Thanh-Minh T. Nguyen, Yves Texier, Sylvia E. C. van Beersum, Nicola Horn, Jason R. Willer, Dorus A. Mans, Gerard Dougherty, Ideke J. C. Lamers, Karlien L. M. Coene, Heleen H. Arts, Matthew J. Betts, Tina Beyer, Emine Bolat, Christian Johannes Gloeckner, Khatera Haidari, Lisette Hetterschijt, Daniela Iaconis, Dagan Jenkins, Franziska Klose, Barbara Knapp, Brooke Latour, Stef J. F. Letteboer, Carlo L. Marcelis, Dragana Mitic, Manuela Morleo, Machteld M. Oud, Moniek Riemersma, Susan Rix, Paulien A. Terhal, Grischa Toedt, Teunis J. P. van Dam, Erik de Vrieze, Yasmin Wissinger, Ka Man Wu, Gordana Apic, Philip L. Beales, Oliver E. Blacque, Toby J. Gibson, Martijn A. Huynen, Nicholas Katsanis, Hannie Kremer, Heymut Omran, Erwin van Wijk, Uwe Wolfrum, François Kepes, Erica E. Davis, Brunella Franco, Rachel H. Giles, Marius Ueffing, Robert B. Russell, Ronald Roepman, UK10K Rare Diseases Group

Nat Commun. 2016; 7: 11491. Published online 2016 May 13. doi: 10.1038/ncomms11491

PMCID:: PMC4869170

Abstract Article PDF–2.0M

Select item 674264613.

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

Select item 742732714.

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 289646415.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 616668216.

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

Abstract Article PDF–3.8M

Select item 426658817.

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

Select item 135612918.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 716998319.

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 553161120.

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

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