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Select item 84790451.

Assembly defects of human tRNA splicing endonuclease contribute to impaired pre-tRNA processing in pontocerebellar hypoplasia

Samoil Sekulovski, Pascal Devant, Silvia Panizza, Tasos Gogakos, Anda Pitiriciu, Katharina Heitmeier, Ewan Phillip Ramsay, Marie Barth, Carla Schmidt, Thomas Tuschl, Frank Baas, Stefan Weitzer, Javier Martinez, Simon Trowitzsch

Nat Commun. 2021; 12: 5610. Published online 2021 Sep 28. doi: 10.1038/s41467-021-25870-3

PMCID:: PMC8479045

Abstract Article PDF–1.7M

Select item 50054482.

Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly

Martin W. Breuss, Tipu Sultan, Kiely N. James, Rasim O. Rosti, Eric Scott, Damir Musaev, Bansri Furia, André Reis, Heinrich Sticht, Mohammed Al-Owain, Fowzan S. Alkuraya, Miriam S. Reuter, Rami Abou Jamra, Christopher R. Trotta, Joseph G. Gleeson

Am J Hum Genet. 2016 Jul 7; 99(1): 228–235. Published online 2016 Jul 7. doi: 10.1016/j.ajhg.2016.05.023

Correction in:: Am J Hum Genet. 2016 Sep 1; 99(3): 785.

PMCID:: PMC5005448

Abstract Article PDF–1.1M

Select item 40823433.

Genetic Variants Related to Height and Risk of Atrial Fibrillation: The Cardiovascular Health Study

Michael A. Rosenberg, Robert C. Kaplan, David S. Siscovick, Bruce M. Psaty, Susan R. Heckbert, Christopher Newton-Cheh, Kenneth J. Mukamal

Am J Epidemiol. 2014 Jul 15; 180(2): 215–222. Published online 2014 Jun 18. doi: 10.1093/aje/kwu126

PMCID:: PMC4082343

Abstract Article PDF–142K

Select item 18655714.

Three-dimensional structure determined for a subunit of human tRNA splicing endonuclease (Sen15) reveals a novel dimeric fold

Jikui Song, John L. Markley

J Mol Biol. Author manuscript; available in PMC 2007 May 5.

Published in final edited form as: J Mol Biol. 2007 Feb 9; 366(1): 155–164. Published online 2006 Nov 11. doi: 10.1016/j.jmb.2006.11.024

PMCID:: PMC1865571

Abstract Article PDF–1.6M

Select item 28947905.

The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature

Jianhua Zhao, Mingyao Li, Jonathan P Bradfield, Haitao Zhang, Frank D Mentch, Kai Wang, Patrick M Sleiman, Cecilia E Kim, Joseph T Glessner, Cuiping Hou, Brendan J Keating, Kelly A Thomas, Maria L Garris, Sandra Deliard, Edward C Frackelton, F George Otieno, Rosetta M Chiavacci, Robert I Berkowitz, Hakon Hakonarson, Struan FA Grant

BMC Med Genet. 2010; 11: 96. Published online 2010 Jun 14. doi: 10.1186/1471-2350-11-96

PMCID:: PMC2894790

Abstract Article PDF–803K

Select item 87501866.

mTOR Inhibition via Rapamycin Treatment Partially Reverts the Deficit in Energy Metabolism Caused by FH Loss in RPE Cells

David A. Merle, Francesca Provenzano, Mohamed Ali Jarboui, Ellen Kilger, Simon J. Clark, Michela Deleidi, Angela Armento, Marius Ueffing

Antioxidants (Basel) 2021 Dec; 10(12): 1944. Published online 2021 Dec 3. doi: 10.3390/antiox10121944

PMCID:: PMC8750186

Abstract Article PDF–2.7M

Select item 29551837.

Hundreds of variants clustered in genomic loci and biological pathways affect human height

Hana Lango Allen, Karol Estrada, Guillaume Lettre, Sonja I. Berndt, Michael N. Weedon, Fernando Rivadeneira, Cristen J. Willer, Anne U. Jackson, Sailaja Vedantam, Soumya Raychaudhuri, Teresa Ferreira, Andrew R. Wood, Robert J. Weyant, Ayellet V. Segrè, Elizabeth K. Speliotes, Eleanor Wheeler, Nicole Soranzo, Ju-Hyun Park, Jian Yang, Daniel Gudbjartsson, Nancy L. Heard-Costa, Joshua C. Randall, Lu Qi, Albert Vernon Smith, Reedik Mägi, Tomi Pastinen, Liming Liang, Iris M. Heid, Jian'an Luan, Gudmar Thorleifsson, Thomas W. Winkler, Michael E. Goddard, Ken Sin Lo, Cameron Palmer, Tsegaselassie Workalemahu, Yurii S. Aulchenko, Åsa Johansson, M.Carola Zillikens, Mary F. Feitosa, Tõnu Esko, Toby Johnson, Shamika Ketkar, Peter Kraft, Massimo Mangino, Inga Prokopenko, Devin Absher, Eva Albrecht, Florian Ernst, Nicole L. Glazer, Caroline Hayward, Jouke-Jan Hottenga, Kevin B. Jacobs, Joshua W. Knowles, Zoltán Kutalik, Keri L. Monda, Ozren Polasek, Michael Preuss, Nigel W. Rayner, Neil R. Robertson, Valgerdur Steinthorsdottir, Jonathan P. Tyrer, Benjamin F. Voight, Fredrik Wiklund, Jianfeng Xu, Jing Hua Zhao, Dale R. Nyholt, Niina Pellikka, Markus Perola, John R.B. Perry, Ida Surakka, Mari-Liis Tammesoo, Elizabeth L. Altmaier, Najaf Amin, Thor Aspelund, Tushar Bhangale, Gabrielle Boucher, Daniel I. Chasman, Constance Chen, Lachlan Coin, Matthew N. Cooper, Anna L. Dixon, Quince Gibson, Elin Grundberg, Ke Hao, M. Juhani Junttila, Lee M. Kaplan, Johannes Kettunen, Inke R. König, Tony Kwan, Robert W. Lawrence, Douglas F. Levinson, Mattias Lorentzon, Barbara McKnight, Andrew P. Morris, Martina Müller, Julius Suh Ngwa, Shaun Purcell, Suzanne Rafelt, Rany M. Salem, Erika Salvi, Serena Sanna, Jianxin Shi, Ulla Sovio, John R. Thompson, Michael C. Turchin, Liesbeth Vandenput, Dominique J. Verlaan, Veronique Vitart, Charles C. White, Andreas Ziegler, Peter Almgren, Anthony J. Balmforth, Harry Campbell, Lorena Citterio, Alessandro De Grandi, Anna Dominiczak, Jubao Duan, Paul Elliott, Roberto Elosua, Johan G. Eriksson, Nelson B. Freimer, Eco J.C. Geus, Nicola Glorioso, Shen Haiqing, Anna-Liisa Hartikainen, Aki S. Havulinna, Andrew A. Hicks, Jennie Hui, Wilmar Igl, Thomas Illig, Antti Jula, Eero Kajantie, Tuomas O. Kilpeläinen, Markku Koiranen, Ivana Kolcic, Seppo Koskinen, Peter Kovacs, Jaana Laitinen, Jianjun Liu, Marja-Liisa Lokki, Ana Marusic, Andrea Maschio, Thomas Meitinger, Antonella Mulas, Guillaume Paré, Alex N. Parker, John F. Peden, Astrid Petersmann, Irene Pichler, Kirsi H. Pietiläinen, Anneli Pouta, Martin Ridderstråle, Jerome I. Rotter, Jennifer G. Sambrook, Alan R. Sanders, Carsten Oliver Schmidt, Juha Sinisalo, Jan H. Smit, Heather M. Stringham, G.Bragi Walters, Elisabeth Widen, Sarah H. Wild, Gonneke Willemsen, Laura Zagato, Lina Zgaga, Paavo Zitting, Helene Alavere, Martin Farrall, Wendy L. McArdle, Mari Nelis, Marjolein J. Peters, Samuli Ripatti, Joyce B.J. van Meurs, Katja K. Aben, Kristin G Ardlie, Jacques S. Beckmann, John P. Beilby, Richard N. Bergman, Sven Bergmann, Francis S. Collins, Daniele Cusi, Martin den Heijer, Gudny Eiriksdottir, Pablo V. Gejman, Alistair S. Hall, Anders Hamsten, Heikki V. Huikuri, Carlos Iribarren, Mika Kähönen, Jaakko Kaprio, Sekar Kathiresan, Lambertus Kiemeney, Thomas Kocher, Lenore J. Launer, Terho Lehtimäki, Olle Melander, Tom H. Mosley, Jr, Arthur W. Musk, Markku S. Nieminen, Christopher J. O'Donnell, Claes Ohlsson, Ben Oostra, Lyle J. Palmer, Olli Raitakari, Paul M. Ridker, John D. Rioux, Aila Rissanen, Carlo Rivolta, Heribert Schunkert, Alan R. Shuldiner, David S. Siscovick, Michael Stumvoll, Anke Tönjes, Jaakko Tuomilehto, Gert-Jan van Ommen, Jorma Viikari, Andrew C. Heath, Nicholas G. Martin, Grant W. Montgomery, Michael A. Province, Manfred Kayser, Alice M. Arnold, Larry D. Atwood, Eric Boerwinkle, Stephen J. Chanock, Panos Deloukas, Christian Gieger, Henrik Grönberg, Per Hall, Andrew T. Hattersley, Christian Hengstenberg, Wolfgang Hoffman, G.Mark Lathrop, Veikko Salomaa, Stefan Schreiber, Manuela Uda, Dawn Waterworth, Alan F. Wright, Themistocles L. Assimes, Inês Barroso, Albert Hofman, Karen L. Mohlke, Dorret I. Boomsma, Mark J. Caulfield, L.Adrienne Cupples, Jeanette Erdmann, Caroline S. Fox, Vilmundur Gudnason, Ulf Gyllensten, Tamara B. Harris, Richard B. Hayes, Marjo-Riitta Jarvelin, Vincent Mooser, Patricia B. Munroe, Willem H. Ouwehand, Brenda W. Penninx, Peter P. Pramstaller, Thomas Quertermous, Igor Rudan, Nilesh J. Samani, Timothy D. Spector, Henry Völzke, Hugh Watkins, James F. Wilson, Leif C. Groop, Talin Haritunians, Frank B. Hu, Robert C. Kaplan, Andres Metspalu, Kari E. North, David Schlessinger, Nicholas J. Wareham, David J. Hunter, Jeffrey R. O'Connell, David P. Strachan, H.-Erich Wichmann, Ingrid B. Borecki, Cornelia M. van Duijn, Eric E. Schadt, Unnur Thorsteinsdottir, Leena Peltonen, André Uitterlinden, Peter M. Visscher, Nilanjan Chatterjee, Ruth J.F. Loos, Michael Boehnke, Mark I. McCarthy, Erik Ingelsson, Cecilia M. Lindgren, Gonçalo R. Abecasis, Kari Stefansson, Timothy M. Frayling, Joel N Hirschhorn

Nature. Author manuscript; available in PMC 2011 Apr 14.

Published in final edited form as: Nature. 2010 Oct 14; 467(7317): 832–838. Published online 2010 Sep 29. doi: 10.1038/nature09410

PMCID:: PMC2955183

Abstract Article PDF–1.4M

Select item 4421478.

A Protein Interaction Framework for Human mRNA Degradation

Ben Lehner, Christopher M. Sanderson

Genome Res. 2004 Jul; 14(7): 1315–1323. doi: 10.1101/gr.2122004

PMCID:: PMC442147

Abstract Article PDF–272K

Select item 4421489.

Functional Proteomics Mapping of a Human Signaling Pathway

Frédéric Colland, Xavier Jacq, Virginie Trouplin, Christelle Mougin, Caroline Groizeleau, Alexandre Hamburger, Alain Meil, Jérôme Wojcik, Pierre Legrain, Jean-Michel Gauthier

Genome Res. 2004 Jul; 14(7): 1324–1332. doi: 10.1101/gr.2334104

PMCID:: PMC442148

Abstract Article PDF–290K

Select item 51531610.

Sequence Comparison of Human and Mouse Genes Reveals a Homologous Block Structure in the Promoter Regions

Yutaka Suzuki, Riu Yamashita, Matsuyuki Shirota, Yuta Sakakibara, Joe Chiba, Junko Mizushima-Sugano, Kenta Nakai, Sumio Sugano

Genome Res. 2004 Sep; 14(9): 1711–1718. doi: 10.1101/gr.2435604

PMCID:: PMC515316

Abstract Article PDF–181K

Select item 298946111.

Systematic Characterization of Human Protein Complexes Identifies Chromosome Segregation Proteins

James R.A. Hutchins, Yusuke Toyoda, Björn Hegemann, Ina Poser, Jean-Karim Hériché, Martina M. Sykora, Martina Augsburg, Otto Hudecz, Bettina A. Buschhorn, Jutta Bulkescher, Christian Conrad, David Comartin, Alexander Schleiffer, Mihail Sarov, Andrei Pozniakovsky, Mikolaj Michal Slabicki, Siegfried Schloissnig, Ines Steinmacher, Marit Leuschner, Andrea Ssykor, Steffen Lawo, Laurence Pelletier, Holger Stark, Kim Nasmyth, Jan Ellenberg, Richard Durbin, Frank Buchholz, Karl Mechtler, Anthony A. Hyman, Jan-Michael Peters

Science. Author manuscript; available in PMC 2010 Nov 22.

Published in final edited form as: Science. 2010 Apr 30; 328(5978): 593–599. Published online 2010 Apr 1. doi: 10.1126/science.1181348

PMCID:: PMC2989461

Abstract Article PDF–2.2M

Select item 549522512.

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

Abstract Article PDF–1.3M

Select item 464794113.

hORFeome v3.1: A resource of human open reading frames representing over 10,000 human genes

Philippe Lamesch, Ning Li, Stuart Milstein, Changyu Fan, Tong Hao, Gabor Szabo, Zhenjun Hu, Kavitha Venkatesan, Graeme Bethel, Paul Martin, Jane Rogers, Stephanie Lawlor, Stuart McLaren, Amélie Dricot, Heather Borick, Michael E. Cusick, Jean Vandenhaute, Ian Dunham, David E. Hill, Marc Vidal

Genomics. 2007 Mar; 89(3): 307–315. doi: 10.1016/j.ygeno.2006.11.012

PMCID:: PMC4647941

Abstract Article

Select item 698120614.

Extensive rewiring of the EGFR network in colorectal cancer cells expressing transforming levels of KRAS^G13D

Susan A. Kennedy, Mohamed-Ali Jarboui, Sriganesh Srihari, Cinzia Raso, Kenneth Bryan, Layal Dernayka, Theodosia Charitou, Manuel Bernal-Llinares, Carlos Herrera-Montavez, Aleksandar Krstic, David Matallanas, Max Kotlyar, Igor Jurisica, Jasna Curak, Victoria Wong, Igor Stagljar, Thierry LeBihan, Lisa Imrie, Priyanka Pillai, Miriam A. Lynn, Erik Fasterius, Cristina Al-Khalili Szigyarto, James Breen, Christina Kiel, Luis Serrano, Nora Rauch, Oleksii Rukhlenko, Boris N. Kholodenko, Luis F. Iglesias-Martinez, Colm J. Ryan, Ruth Pilkington, Patrizia Cammareri, Owen Sansom, Steven Shave, Manfred Auer, Nicola Horn, Franziska Klose, Marius Ueffing, Karsten Boldt, David J. Lynn, Walter Kolch

Nat Commun. 2020; 11: 499. Published online 2020 Jan 24. doi: 10.1038/s41467-019-14224-9

PMCID:: PMC6981206

Abstract Article PDF–3.7M

Select item 835296415.

Integrative oncogene-dependency mapping identifies RIT1 vulnerabilities and synergies in lung cancer

Athea Vichas, Amanda K. Riley, Naomi T. Nkinsi, Shriya Kamlapurkar, Phoebe C. R. Parrish, April Lo, Fujiko Duke, Jennifer Chen, Iris Fung, Jacqueline Watson, Matthew Rees, Austin M. Gabel, James D. Thomas, Robert K. Bradley, John K. Lee, Emily M. Hatch, Marina K. Baine, Natasha Rekhtman, Marc Ladanyi, Federica Piccioni, Alice H. Berger

Nat Commun. 2021; 12: 4789. Published online 2021 Aug 9. doi: 10.1038/s41467-021-24841-y

PMCID:: PMC8352964

Abstract Article PDF–4.5M

Select item 461721116.

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

Abstract Article PDF–2.2M

Select item 716998317.

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 553161118.

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

Select item 816503019.

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 52892820.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

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