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Select item 101191421.

Bi-allelic SNAPC4 variants dysregulate global alternative splicing and lead to neuroregression and progressive spastic paraparesis

F. Graeme Frost, Marie Morimoto, Prashant Sharma, Lyse Ruaud, Newell Belnap, Daniel G. Calame, Yuri Uchiyama, Naomichi Matsumoto, Machteld M. Oud, Elise A. Ferreira, Vinodh Narayanan, Sampath Rangasamy, Matt Huentelman, Lisa T. Emrick, Ikuko Sato-Shirai, Satoko Kumada, Nicole I. Wolf, Peter J. Steinbach, Yan Huang, Undiagnosed Diseases Network, Barbara N. Pusey, Sandrine Passemard, Jonathan Levy, Séverine Drunat, Marie Vincent, Agnès Guet, Emanuele Agolini, Antonio Novelli, Maria Cristina Digilio, Jill A. Rosenfeld, Jennifer L. Murphy, James R. Lupski, Gilbert Vezina, Ellen F. Macnamara, David R. Adams, Maria T. Acosta, Cynthia J. Tifft, William A. Gahl, May Christine V. Malicdan

Am J Hum Genet. 2023 Apr 6; 110(4): 663–680. Published online 2023 Mar 24. doi: 10.1016/j.ajhg.2023.03.001

PMCID:: PMC10119142

Abstract Article PDF–5.2M

Select item 29335072.

Elucidating the Chromosome 9 Association with AS; CARD9 is a Candidate Gene

Jennifer J Pointon, David Harvey, Tugce Karaderi, Louise H. Appleton, Claire Farrar, Millicent A. Stone, Roger D. Sturrock, Matthew A. Brown, B. Paul Wordsworth

Genes Immun. Author manuscript; available in PMC 2011 Mar 1.

Published in final edited form as: Genes Immun. 2010 Sep; 11(6): 490–496. Published online 2010 May 13. doi: 10.1038/gene.2010.17

Correction in:: volume 12 on page 319

PMCID:: PMC2933507

Abstract Article PDF–404K

Select item 2309723.

Cloning of two proximal sequence element-binding transcription factor subunits (gamma and delta) that are required for transcription of small nuclear RNA genes by RNA polymerases II and III and interact with the TATA-binding protein.

J B Yoon, R G Roeder

Mol Cell Biol. 1996 Jan; 16(1): 1–9. doi: 10.1128/mcb.16.1.1

PMCID:: PMC230972

Summary PDF–383K

Select item 1215074.

The Large Subunit of Basal Transcription Factor SNAP_c Is a Myb Domain Protein That Interacts with Oct-1

Mee Wa Wong, R. William Henry, Beicong Ma, Ryuji Kobayashi, Natacha Klages, Patrick Matthias, Michel Strubin, Nouria Hernandez

Mol Cell Biol. 1998 Jan; 18(1): 368–377. doi: 10.1128/mcb.18.1.368

PMCID:: PMC121507

Abstract Article PDF–938K

Select item 30845975.

Meta-analysis identifies 29 additional ulcerative colitis risk loci, increasing the number of confirmed associations to 47

Carl A. Anderson, Gabrielle Boucher, Charlie W. Lees, Andre Franke, Mauro D’Amato, Kent D. Taylor, James C. Lee, Philippe Goyette, Marcin Imielinski, Anna Latiano, Caroline Lagacé, Regan Scott, Leila Amininejad, Suzannah Bumpstead, Leonard Baidoo, Robert N. Baldassano, Murray Barclay, Theodore M. Bayless, Stephan Brand, Carsten Büning, Jean-Frédéric Colombel, Lee A. Denson, Martine De Vos, Marla Dubinsky, Cathryn Edwards, David Ellinghaus, Rudolf S.N. Fehrmann, James A.B. Floyd, Tim Florin, Denis Franchimont, Lude Franke, Michel Georges, Jürgen Glas, Nicole L. Glazer, Stephen L. Guthery, Talin Haritunians, Nicholas K. Hayward, Jean-Pierre Hugot, Gilles Jobin, Debby Laukens, Ian Lawrance, Marc Lémann, Arie Levine, Cecile Libioulle, Edouard Louis, Dermot P. McGovern, Monica Milla, Grant W. Montgomery, Katherine I. Morley, Craig Mowat, Aylwin Ng, William Newman, Roel A Ophoff, Laura Papi, Orazio Palmieri, Laurent Peyrin-Biroulet, Julián Panés, Anne Phillips, Natalie J. Prescott, Deborah D. Proctor, Rebecca Roberts, Richard Russell, Paul Rutgeerts, Jeremy Sanderson, Miquel Sans, Philip Schumm, Frank Seibold, Yashoda Sharma, Lisa Simms, Mark Seielstad, A. Hillary Steinhart, Stephan R. Targan, Leonard H. van den Berg, Morten Vatn, Hein Verspaget, Thomas Walters, Cisca Wijmenga, David C. Wilson, Harm-Jan Westra, Ramnik J. Xavier, Zhen Z. Zhao, Cyriel Y. Ponsioen, Vibeke Andersen, Leif Torkvist, Maria Gazouli, Nicholas P. Anagnou, Tom H. Karlsen, Limas Kupcinskas, Jurgita Sventoraityte, John C. Mansfield, Subra Kugathasan, Mark S. Silverberg, Jonas Halfvarson, Jerome I. Rotter, Christopher G. Mathew, Anne M. Griffiths, Richard Gearry, Tariq Ahmad, Steven R. Brant, Mathias Chamaillard, Jack Satsangi, Judy H. Cho, Stefan Schreiber, Mark J. Daly, Jeffrey C. Barrett, Miles Parkes, Vito Annese, Hakon Hakonarson, Graham Radford-Smith, Richard H. Duerr, Séverine Vermeire, Rinse K. Weersma, John D. Rioux

Nat Genet. Author manuscript; available in PMC 2011 Sep 1.

Published in final edited form as: Nat Genet. 2011 Mar; 43(3): 246–252. Published online 2011 Feb 6. doi: 10.1038/ng.764

Correction in:: volume 43 on page 919

PMCID:: PMC3084597

Abstract Article PDF–404K

Select item 32995516.

Meta-Analysis Increases to 71 the Tally of Confirmed Crohn’s Disease Susceptibility Loci

Andre Franke, Dermot P.B. McGovern, Jeffrey C. Barrett, Kai Wang, Graham L. Radford-Smith, Tariq Ahmad, Charlie W. Lees, Tobias Balschun, James Lee, Rebecca Roberts, Carl A. Anderson, Joshua C. Bis, Suzanne Bumpstead, David Ellinghaus, Eleonora M. Festen, Michel Georges, Talin Haritunians, Luke Jostins, Anna Latiano, Christopher G. Mathew, Grant W. Montgomery, Natalie J. Prescott, Jerome I. Rotter, Philip Schumm, Yashoda Sharma, Lisa A. Simms, Kent D. Taylor, David Whiteman, Cisca Wijmenga, Robert N. Baldassano, Murray Barclay, Theodore M. Bayless, Stephan Brand, Carsten Buning, Albert Cohen, Jean-Frederick Colombel, Mario Cottone, Laura Stronati, Ted Denson, Martine De Vos, Renata D’Inca, Marla Dubinsky, Cathryn Edwards, Tim Florin, Denis Franchimont, Richard Gearry, Jürgen Glas, Andre Van Gossum, Stephen L. Guthery, Jonas Halfvarson, Daan Hommes, Jean-Pierre Hugot, Debby Laukens, Ian Lawrance, Marc Lemann, Arie Levine, Cecile Libioulle, Edouard Louis, Craig Mowat, William Newman, Julián Panés, Anne Phillips, Deborah D. Proctor, Miguel Regueiro, Paul Rutgeerts, Jeremy Sanderson, Miquel Sans, Frank Seibold, A. Hillary Steinhart, Pieter C.F. Stokkers, Leif Torkvist, Gerd Kullak Ublick, Soumya Raychaudhuri, Todd Green, Thomas Walters, Stephan R. Targan, Steven R. Brant, John D. Rioux, Mauro D’Amato, Rinse Weersma, Subra Kugathasan, Anne M. Griffiths, John C. Mansfield, Severine Vermeire, Richard H. Duerr, Mark S. Silverberg, Jack Satsangi, Stefan Schreiber, Judy H. Cho, Vito Annese, Hakon Hakonarson, Mark J. Daly, Miles Parkes

Nat Genet. Author manuscript; available in PMC 2012 Mar 12.

Published in final edited form as: Nat Genet. 2010 Dec; 42(12): 1118–1125. doi: 10.1038/ng.717

PMCID:: PMC3299551

Article PDF–864K

Select item 4421477.

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 27340818.

DNA sequence and analysis of human chromosome 9

S. J. Humphray, K. Oliver, A. R. Hunt, R. W. Plumb, J. E. Loveland, K. L. Howe, T. D. Andrews, S. Searle, S. E. Hunt, C. E. Scott, M. C. Jones, R. Ainscough, J. P. Almeida, K. D. Ambrose, R. I. S. Ashwell, A. K. Babbage, S. Babbage, C. L. Bagguley, J. Bailey, R. Banerjee, D. J. Barker, K. F. Barlow, K. Bates, H. Beasley, O. Beasley, C. P. Bird, S. Bray-Allen, A. J. Brown, J. Y. Brown, D. Burford, W. Burrill, J. Burton, C. Carder, N. P. Carter, J. C. Chapman, Y. Chen, G. Clarke, S. Y. Clark, C. M. Clee, S. Clegg, R. E. Collier, N. Corby, M. Crosier, A. T. Cummings, J. Davies, P. Dhami, M. Dunn, I. Dutta, L. W. Dyer, M. E. Earthrowl, L. Faulkner, C. J. Fleming, A. Frankish, J. A. Frankland, L. French, D. G. Fricker, P. Garner, J. Garnett, J. Ghori, J. G. R. Gilbert, C. Glison, D. V. Grafham, S. Gribble, C. Griffiths, S. Griffiths-Jones, R. Grocock, J. Guy, R. E. Hall, S. Hammond, J. L. Harley, E. S. I. Harrison, E. A. Hart, P. D. Heath, C. D. Henderson, B. L. Hopkins, P. J. Howard, P. J. Howden, E. Huckle, C. Johnson, D. Johnson, A. A. Joy, M. Kay, S. Keenan, J. K. Kershaw, A. M. Kimberley, A. King, A. Knights, G. K. Laird, C. Langford, S. Lawlor, D. A. Leongamornlert, M. Leversha, C. Lloyd, D. M. Lloyd, J. Lovell, S. Martin, M. Mashreghi-Mohammadi, L. Matthews, S. McLaren, K. E. McLay, A. McMurray, S. Milne, T. Nickerson, J. Nisbett, G. Nordsiek, A. V. Pearce, A. I. Peck, K. M. Porter, R. Pandian, S. Pelan, B. Phillimore, S. Povey, Y. Ramsey, V. Rand, M. Scharfe, H. K. Sehra, R. Shownkeen, S. K. Sims, C. D. Skuce, M. Smith, C. A. Steward, D. Swarbreck, N. Sycamore, J. Tester, A. Thorpe, A. Tracey, A. Tromans, D. W. Thomas, M. Wall, J. M. Wallis, A. P. West, S. L. Whitehead, D. L. Willey, S. A. Williams, L. Wilming, P. W. Wray, L. Young, J. L. Ashurst, A. Coulson, H. Blöcker, R. Durbin, J. E. Sulston, T. Hubbard, M. J. Jackson, D. R. Bentley, S. Beck, J. Rogers, I. Dunham

Nature. Author manuscript; available in PMC 2009 Aug 28.

Published in final edited form as: Nature. 2004 May 27; 429(6990): 369–374. doi: 10.1038/nature02465

PMCID:: PMC2734081

Abstract Article PDF–1006K

Select item 44989039.

Systematic Analysis of the Protein Interaction Network for the Human Transcription Machinery Reveals the Identity of the 7SK Capping Enzyme

Célia Jeronimo, Diane Forget, Annie Bouchard, Qintong Li, Gordon Chua, Christian Poitras, Cynthia Thérien, Dominique Bergeron, Sylvie Bourassa, Jack Greenblatt, Benoit Chabot, Guy G. Poirier, Timothy R. Hughes, Mathieu Blanchette, David H. Price, Benoit Coulombe

Mol Cell. Author manuscript; available in PMC 2015 Jul 10.

Published in final edited form as: Mol Cell. 2007 Jul 20; 27(2): 262–274. doi: 10.1016/j.molcel.2007.06.027

PMCID:: PMC4498903

Abstract Article PDF–1.5M

Select item 555356810.

A role for mitochondrial translation in promotion of viability in K-Ras mutant cells

Timothy D. Martin, Danielle R. Cook, Mei Yuk Choi, Mamie Z. Li, Kevin M. Haigis, Stephen J. Elledge

Cell Rep. Author manuscript; available in PMC 2017 Aug 11.

Published in final edited form as: Cell Rep. 2017 Jul 11; 20(2): 427–438. doi: 10.1016/j.celrep.2017.06.061

PMCID:: PMC5553568

Abstract Article PDF–1.8M

Select item 290199811.

Network organization of the human autophagy system

Christian Behrends, Mathew E. Sowa, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nature. 2010 Jul 1; 466(7302): 68–76. Published online 2010 Jun 20. doi: 10.1038/nature09204

PMCID:: PMC2901998

Abstract Article PDF–1.4M

Select item 954034512.

The in vivo Interaction Landscape of Histones H3.1 and H3.3

Robert Siddaway, Scott Milos, Étienne Coyaud, Hwa Young Yun, Shahir M. Morcos, Sanja Pajovic, Eric I. Campos, Brian Raught, Cynthia Hawkins

Mol Cell Proteomics. 2022 Oct; 21(10): 100411. Published online 2022 Sep 9. doi: 10.1016/j.mcpro.2022.100411

PMCID:: PMC9540345

Abstract Article PDF–3.9M

Select item 51444613.

Large-scale characterization of HeLa cell nuclear phosphoproteins

Sean A. Beausoleil, Mark Jedrychowski, Daniel Schwartz, Joshua E. Elias, Judit Villén, Jiaxu Li, Martin A. Cohn, Lewis C. Cantley, Steven P. Gygi

Proc Natl Acad Sci U S A. 2004 Aug 17; 101(33): 12130–12135. Published online 2004 Aug 9. doi: 10.1073/pnas.0404720101

PMCID:: PMC514446

Abstract Article PDF–475K

Select item 926261414.

A dual-activity topoisomerase complex regulates mRNA translation and turnover

Shuaikun Su, Yutong Xue, Alexei Sharov, Yongqing Zhang, Seung Kyu Lee, Jennifer L Martindale, Wen Li, Wai Lim Ku, Keji Zhao, Supriyo De, Weiping Shen, Payel Sen, Myriam Gorospe, Dongyi Xu, Weidong Wang

Nucleic Acids Res. 2022 Jul 8; 50(12): 7013–7033. Published online 2022 Jun 24. doi: 10.1093/nar/gkac538

PMCID:: PMC9262614

Abstract Article PDF–3.6M

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 677813716.

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 289646417.

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 911973618.

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 461721119.

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 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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