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Select item 58473951.

The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family

Nawei Sun, Cara Nasello, Li Deng, Nan Wang, Yeting Zhang, Zihui Xu, Zhichao Song, Kelvin Kwan, Robert A. King, Zhiping P. Pang, Jinchuan Xing, Gary A. Heiman, Jay A. Tischfield

Mol Psychiatry. Author manuscript; available in PMC 2018 Mar 14.

Published in final edited form as: Mol Psychiatry. 2018 Jun; 23(6): 1487–1495. Published online 2017 Sep 12. doi: 10.1038/mp.2017.179

PMCID:: PMC5847395

Abstract Article PDF–1.8M

Select item 34711132.

Myofibrillogenesis regulator-1 overexpression is associated with poor prognosis of gastric cancer patients

Jing Guo, Bin Dong, Jia-Fu Ji, Ai-Wen Wu

World J Gastroenterol. 2012 Oct 14; 18(38): 5434–5441. Published online 2012 Oct 14. doi: 10.3748/wjg.v18.i38.5434

PMCID:: PMC3471113

Abstract Article PDF–998K

Select item 29077463.

An epilepsy/dyskinesia-associated mutation enhances BK channel activation by potentiating Ca²⁺ sensing

Junqiu Yang, Gayathri Krishnamoorthy, Akansha Saxena, Guohui Zhang, Jingyi Shi, Huanghe Yang, Kelli Delaloye, David Sept, Jianmin Cui

Neuron. Author manuscript; available in PMC 2010 Jul 21.

Published in final edited form as: Neuron. 2010 Jun 24; 66(6): 871–883. doi: 10.1016/j.neuron.2010.05.009

PMCID:: PMC2907746

Abstract Article PDF–4.5M

Select item 19151284.

Paroxysmal dystonic choreoathetosis: tight linkage to chromosome 2q.

J. K. Fink, S. Rainer, J. Wilkowski, S. M. Jones, A. Kume, P. Hedera, R. Albin, J. Mathay, L. Girbach, T. Varvil, B. Otterud, M. Leppert

Am J Hum Genet. 1996 Jul; 59(1): 140–145.

PMCID:: PMC1915128

Summary Page Browse PDF–940K

Select item 19151105.

A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.

G. T. Fouad, S. Servidei, S. Durcan, E. Bertini, L. J. Ptácek

Am J Hum Genet. 1996 Jul; 59(1): 135–139.

PMCID:: PMC1915110

Summary Page Browse PDF–844K

Select item 50810516.

Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

Giulia Orlando, Philip J. Law, Kimmo Palin, Sari Tuupanen, Alexandra Gylfe, Ulrika A. Hänninen, Tatiana Cajuso, Tomas Tanskanen, Johanna Kondelin, Eevi Kaasinen, Antti-Pekka Sarin, Jaakko Kaprio, Johan G. Eriksson, Harri Rissanen, Paul Knekt, Eero Pukkala, Pekka Jousilahti, Veikko Salomaa, Samuli Ripatti, Aarno Palotie, Heikki Järvinen, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Nada A. Al-Tassan, Claire Palles, Lynn Martin, Ella Barclay, Albert Tenesa, Susan Farrington, Maria N. Timofeeva, Brian F. Meyer, Salma M. Wakil, Harry Campbell, Christopher G. Smith, Shelley Idziaszczyk, Timothy S. Maughan, Richard Kaplan, Rachel Kerr, David Kerr, Daniel D. Buchanan, Aung Ko Win, John Hopper, Mark Jenkins, Noralane M. Lindor, Polly A. Newcomb, Steve Gallinger, David Conti, Fred Schumacher, Graham Casey, Jussi Taipale, Jeremy P. Cheadle, Malcolm G. Dunlop, Ian P. Tomlinson, Lauri A. Aaltonen, Richard S. Houlston

Hum Mol Genet. 2016 Jun 1; 25(11): 2349–2359. Published online 2016 Mar 22. doi: 10.1093/hmg/ddw087

PMCID:: PMC5081051

Abstract Article PDF–450K

Select item 30987367.

Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability

Yiguo Shen, Hsien-Yang Lee, Joel Rawson, Sunil Ojha, Patricia Babbitt, Ying-Hui Fu, Louis J. Ptáček

Hum Mol Genet. 2011 Jun 15; 20(12): 2322–2332. Published online 2011 Apr 12. doi: 10.1093/hmg/ddr125

PMCID:: PMC3098736

Abstract Article

Select item 110227198.

Myofibrillogenesis Regulator‐1 Regulates the Ubiquitin Lysosomal Pathway of Notch3 Intracellular Domain Through E3 Ubiquitin‐Protein Ligase Itchy Homolog in the Metastasis of Non‐Small Cell Lung Cancer

Wenxia Zhao, Yang Li, Hanzeng Cheng, Mengyan Wang, Zhishuo Zhang, Meilian Cai, Cong Zhao, Xiaoming Xi, Xiaojun Zhao, Wuli Zhao, Yajun Yang, Rongguang Shao

Adv Sci (Weinh) 2024 Apr; 11(15): 2306472. Published online 2024 Feb 11. doi: 10.1002/advs.202306472

PMCID:: PMC11022719

Abstract Article PDF–6.1M

Select item 46553459.

The clinical and genetic heterogeneity of paroxysmal dyskinesias

Alice R. Gardiner, Fatima Jaffer, Russell C. Dale, Robyn Labrum, Roberto Erro, Esther Meyer, Georgia Xiromerisiou, Maria Stamelou, Matthew Walker, Dimitri Kullmann, Tom Warner, Paul Jarman, Mike Hanna, Manju A. Kurian, Kailash P. Bhatia, Henry Houlden

Brain. 2015 Dec; 138(12): 3567–3580. Published online 2015 Nov 18. doi: 10.1093/brain/awv310

PMCID:: PMC4655345

Abstract Article PDF–1016K

Select item 457226110.

Transactivating effect of hepatitis C virus core protein: A suppression subtractive hybridization study

Min Liu, Yan Liu, Jun Cheng, Shu-Lin Zhang, Lin Wang, Qing Shao, Jian Zhang, Qian Yang

World J Gastroenterol. 2004 Jun 15; 10(12): 1746–1749. Published online 2004 Jun 15. doi: 10.3748/wjg.v10.i12.1746

PMCID:: PMC4572261

Abstract Article PDF–109K

Select item 353337911.

Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia

Hsien-yang Lee, Junko Nakayama, Ying Xu, Xueliang Fan, Maha Karouani, Yiguo Shen, Emmanuel N. Pothos, Ellen J. Hess, Ying-Hui Fu, Robert H. Edwards, Louis J. Ptácek

J Clin Invest. 2012 Feb 1; 122(2): 507–518. Published online 2012 Jan 3. doi: 10.1172/JCI58470

PMCID:: PMC3533379

Abstract Article

Select item 436419912.

Protein mutated in paroxysmal dyskinesia interacts with the active zone protein RIM and suppresses synaptic vesicle exocytosis

Yiguo Shen, Woo-Ping Ge, Yulong Li, Arisa Hirano, Hsien-Yang Lee, Astrid Rohlmann, Markus Missler, Richard W. Tsien, Lily Yeh Jan, Ying-Hui Fu, Louis J. Ptáček

Proc Natl Acad Sci U S A. 2015 Mar 10; 112(10): 2935–2941. Published online 2015 Feb 17. doi: 10.1073/pnas.1501364112

PMCID:: PMC4364199

Abstract Article PDF–1.2M

Select item 470913613.

FIH Regulates Cellular Metabolism through Hydroxylation of the Deubiquitinase OTUB1

Carsten C. Scholz, Javier Rodriguez, Christina Pickel, Stephen Burr, Jacqueline-alba Fabrizio, Karen A. Nolan, Patrick Spielmann, Miguel A. S. Cavadas, Bianca Crifo, Doug N. Halligan, James A. Nathan, Daniel J. Peet, Roland H. Wenger, Alex Von Kriegsheim, Eoin P. Cummins, Cormac T. Taylor

PLoS Biol. 2016 Jan; 14(1): e1002347. Published online 2016 Jan 11. doi: 10.1371/journal.pbio.1002347

PMCID:: PMC4709136

Abstract Article PDF–2.3M

Select item 583958514.

Identification of proteins interacting with the mitochondrial small heat shock protein Hsp22 of Drosophila melanogaster: Implication in mitochondrial homeostasis

Afrooz Dabbaghizadeh, Geneviève Morrow, Yasmine Ould Amer, Etienne Hebert Chatelain, Nicolas Pichaud, Robert M. Tanguay

PLoS One. 2018; 13(3): e0193771. Published online 2018 Mar 6. doi: 10.1371/journal.pone.0193771

PMCID:: PMC5839585

Abstract Article PDF–15M

Select item 349180315.

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 500906416.

SPATA2-Mediated Binding of CYLD to HOIP Enables CYLD Recruitment to Signaling Complexes

Sebastian Kupka, Diego De Miguel, Peter Draber, Luigi Martino, Silvia Surinova, Katrin Rittinger, Henning Walczak

Cell Rep. 2016 Aug 30; 16(9): 2271–2280. Published online 2016 Aug 18. doi: 10.1016/j.celrep.2016.07.086

PMCID:: PMC5009064

Abstract Article

Select item 764232717.

A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export

Dick J. H. van den Boomen, Agata Sienkiewicz, Ilana Berlin, Marlieke L. M. Jongsma, Daphne M. van Elsland, J. Paul Luzio, Jacques J. C. Neefjes, Paul J. Lehner

Nat Commun. 2020; 11: 5559. Published online 2020 Nov 3. doi: 10.1038/s41467-020-19032-0

PMCID:: PMC7642327

Abstract Article PDF–12M

Select item 810809318.

DNA Repair Network Analysis Reveals Shieldin as a Key Regulator of NHEJ and PARP Inhibitor Sensitivity

Rajat Gupta, Kumar Somyajit, Takeo Narita, Elina Maskey, Andre Stanlie, Magdalena Kremer, Dimitris Typas, Michael Lammers, Niels Mailand, Andre Nussenzweig, Jiri Lukas, Chunaram Choudhary

Cell. Author manuscript; available in PMC 2021 May 10.

Published in final edited form as: Cell. 2018 May 3; 173(4): 972–988.e23. Published online 2018 Apr 12. doi: 10.1016/j.cell.2018.03.050

PMCID:: PMC8108093

Abstract Article PDF–3.5M

Select item 108373219.

Systematic subcellular localization of novel proteins identified by large-scale cDNA sequencing

Jeremy C. Simpson, Ruth Wellenreuther, Annemarie Poustka, Rainer Pepperkok, Stefan Wiemann

EMBO Rep. 2000 Sep 15; 1(3): 287–292. doi: 10.1093/embo-reports/kvd058

PMCID:: PMC1083732

Abstract Article PDF–375K

Select item 444121520.

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

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