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Select item 79011461.

LACC1 deficiency links juvenile arthritis with autophagy and metabolism in macrophages

Ommar Omarjee, Anne-Laure Mathieu, Gaëlle Quiniou, Marion Moreews, Michelle Ainouze, Cécile Frachette, Isabelle Melki, Cécile Dumaine, Mathieu Gerfaud-Valentin, Agnès Duquesne, Tilmann Kallinich, Eda Tahir Turanli, Christophe Malcus, Sébastien Viel, Rémi Pescarmona, Sophie Georgin-Lavialle, Yvan Jamilloux, Jean-Paul Larbre, Guillaume Sarrabay, Flora Magnotti, Gillian I. Rice, Francoise Bleicher, Jonathan Reboulet, Samir Merabet, Thomas Henry, Yanick J. Crow, Mathias Faure, Thierry Walzer, Alexandre Belot

J Exp Med. 2021 Mar 1; 218(3): e20201006. Published online 2021 Feb 19. doi: 10.1084/jem.20201006

PMCID:: PMC7901146

Abstract Article PDF–4.3M

Select item 54727602.

Human LACC1 increases innate receptor-induced responses and a LACC1 disease-risk variant modulates these outcomes

Amit Lahiri, Matija Hedl, Jie Yan, Clara Abraham

Nat Commun. 2017; 8: 15614. Published online 2017 Jun 8. doi: 10.1038/ncomms15614

PMCID:: PMC5472760

Abstract Article PDF–1.0M

Select item 53697703.

Dense genotyping of immune-related loci implicates host responses to microbial exposure in Behçet’s disease susceptibility

Masaki Takeuchi, Nobuhisa Mizuki, Akira Meguro, Michael J. Ombrello, Yohei Kirino, Colleen Satorius, Julie Le, Mary Blake, Burak Erer, Tatsukata Kawagoe, Duran Ustek, Ilknur Tugal-Tutkun, Emire Seyahi, Yilmaz Ozyazgan, Inês Sousa, Fereydoun Davatchi, Vânia Francisco, Farhad Shahram, Bahar Sadeghi Abdollahi, Abdolhadi Nadji, Niloofar Mojarad Shafiee, Fahmida Ghaderibarmi, Shigeaki Ohno, Atsuhisa Ueda, Yoshiaki Ishigatsubo, Massimo Gadina, Sofia A. Oliveira, Ahmet Gül, Daniel L. Kastner, Elaine F. Remmers

Nat Genet. Author manuscript; available in PMC 2017 Aug 6.

Published in final edited form as: Nat Genet. 2017 Mar; 49(3): 438–443. Published online 2017 Feb 6. doi: 10.1038/ng.3786

PMCID:: PMC5369770

Abstract Article PDF–684K

Select item 53035734.

Genetic Risk for Inflammatory Bowel Disease is a Determinant of Crohn’s disease Development in Chronic Granulomatous Disease

Chengrui Huang, Suk See De Ravin, Adam R. Paul, Theo Heller, Nancy Ho, Lisa Wu Datta, Christa S. Zerbe, Beatriz E. Marciano, Douglas B. Kuhns, NIDDK IBD Genetics Consortium, Howard A. Kader, Steven M. Holland, Harry L. Malech, Steven R. Brant

Inflamm Bowel Dis. Author manuscript; available in PMC 2017 Dec 1.

Published in final edited form as: Inflamm Bowel Dis. 2016 Dec; 22(12): 2794–2801. doi: 10.1097/MIB.0000000000000966

PMCID:: PMC5303573

Abstract Article PDF–867K

Select item 51545825.

Functional Analyses of the Crohn’s Disease Risk Gene LACC1

Ghazaleh Assadi, Liselotte Vesterlund, Ferdinando Bonfiglio, Luca Mazzurana, Lina Cordeddu, Danika Schepis, Jenny Mjösberg, Sabrina Ruhrmann, Alessia Fabbri, Vladana Vukojevic, Piergiorgio Percipalle, Florian A. Salomons, Jurga Laurencikiene, Leif Törkvist, Jonas Halfvarson, Mauro D’Amato

PLoS One. 2016; 11(12): e0168276. Published online 2016 Dec 13. doi: 10.1371/journal.pone.0168276

PMCID:: PMC5154582

Abstract Article PDF–2.6M

Select item 51220266.

Juvenile arthritis caused by a novel FAMIN (LACC1) mutation in two children with systemic and extended oligoarticular course

Tilmann Kallinich, Anne Thorwarth, Sae-Lim von Stuckrad, Angela Rösen-Wolff, Hella Luksch, Patrick Hundsdoerfer, Kirsten Minden, Peter Krawitz

Pediatr Rheumatol Online J. 2016; 14: 63. Published online 2016 Nov 24. doi: 10.1186/s12969-016-0124-2

PMCID:: PMC5122026

Abstract Article PDF–413K

Select item 45657937.

Newly Recognized Mendelian Disorders with Rheumatic Manifestations

Adriana Almeida de Jesus, Raphaela Goldbach-Mansky

Curr Opin Rheumatol. Author manuscript; available in PMC 2016 Sep 1.

Published in final edited form as: Curr Opin Rheumatol. 2015 Sep; 27(5): 511–519. doi: 10.1097/BOR.0000000000000207

PMCID:: PMC4565793

Abstract Article PDF–209K

Select item 73725078.

LACC1 Required for NOD2-Induced, ER Stress-Mediated Innate Immune Outcomes in Human Macrophages and LACC1 Risk Variants Modulate These Outcomes

Chen Huang, Matija Hedl, Kishu Ranjan, Clara Abraham

Cell Rep. Author manuscript; available in PMC 2020 Jul 21.

Published in final edited form as: Cell Rep. 2019 Dec 24; 29(13): 4525–4539.e4. doi: 10.1016/j.celrep.2019.11.105

PMCID:: PMC7372507

Abstract Article PDF–3.2M

Select item 59867029.

Missense Variants in HIF1A and LACC1 Contribute to Leprosy Risk in Han Chinese

Dong Wang, Yu Fan, Mahadev Malhi, Rui Bi, Yong Wu, Min Xu, Xiu-Feng Yu, Heng Long, Yu-Ye Li, Deng-Feng Zhang, Yong-Gang Yao

Am J Hum Genet. 2018 May 3; 102(5): 794–805. Published online 2018 Apr 26. doi: 10.1016/j.ajhg.2018.03.006

PMCID:: PMC5986702

Abstract Article PDF–1.6M

Select item 981377310.

LACC1 bridges NOS2 and polyamine metabolism in inflammatory macrophages

Zheng Wei, Joonseok Oh, Richard A Flavell, Jason M. Crawford

Nature. Author manuscript; available in PMC 2023 Jan 5.

Published in final edited form as: Nature. 2022 Sep; 609(7926): 348–353. Published online 2022 Aug 17. doi: 10.1038/s41586-022-05111-3

Correction in:: Nature. 2023 May 25

PMCID:: PMC9813773

Abstract Article PDF–2.6M

Select item 658154011.

C13orf31 (FAMIN) is a central regulator of immunometabolic function

M. Zaeem Cader, Katharina Boroviak, Qifeng Zhang, Ghazaleh Assadi, Sarah L. Kempster, Gavin W. Sewell, Svetlana Saveljeva, Jonathan W. Ashcroft, Simon Clare, Subhankar Mukhopadhyay, Karen P. Brown, Markus Tschurtschenthaler, Tim Raine, Brendan Doe, Edwin R. Chilvers, Jules L. Griffin, Nicole C. Kaneider, R. Andres Floto, Mauro D’Amato, Allan Bradley, Michael J. O. Wakelam, Gordon Dougan, Arthur Kaser

Nat Immunol. Author manuscript; available in PMC 2019 Jun 18.

Published in final edited form as: Nat Immunol. 2016 Sep 1; 17(9): 1046–1056. Published online 2016 Aug 1. doi: 10.1038/ni.3532

PMCID:: PMC6581540

Abstract Article PDF–2.8M

Select item 267513712.

Investigation of Crohn’s Disease Risk Loci in Ulcerative Colitis Further Defines Their Molecular Relationship

CARL A. ANDERSON, DUNECAN C. O. MASSEY, JEFFREY C. BARRETT, NATALIE J. PRESCOTT, MARK TREMELLING, SHEILA A. FISHER, RHIAN GWILLIAM, JEMIMA JACOB, ELAINE R. NIMMO, HAZEL DRUMMOND, CHARLIE W. LEES, CLIVE M. ONNIE, CATHERINE HANSON, KATARZYNA BLASZCZYK, RADHI RAVINDRARAJAH, SARAH HUNT, DHIRAJ VARMA, NAOMI HAMMOND, GREGORY LEWIS, HEATHER ATTLESEY, NICK WATKINS, WILLEM OUWEHAND, DAVID STRACHAN, WENDY MCARDLE, CATHRYN M. LEWIS, The Wellcome Trust Case Control Consortium, ALAN LOBO, JEREMY SANDERSON, DEREK P. JEWELL, PANOS DELOUKAS, JOHN C. MANSFIELD, CHRISTOPHER G. MATHEW, JACK SATSANGI, MILES PARKES

Gastroenterology. Author manuscript; available in PMC 2009 Aug 1.

Published in final edited form as: Gastroenterology. 2009 Feb; 136(2): 523–9.e3. Published online 2008 Oct 25. doi: 10.1053/j.gastro.2008.10.032

PMCID:: PMC2675137

Abstract Article PDF–291K

Select item 257481013.

Genome-wide association defines more than thirty distinct susceptibility loci for Crohn's disease

Jeffrey C. Barrett, Sarah Hansoul, Dan L. Nicolae, Judy H. Cho, Richard H. Duerr, John D. Rioux, Steven R. Brant, Mark S. Silverberg, Kent D. Taylor, M. Michael Barmada, Alain Bitton, Themistocles Dassopoulos, Lisa Wu Datta, Todd Green, Anne M. Griffiths, Emily O. Kistner, Michael T. Murtha, Miguel D. Regueiro, Jerome I. Rotter, L. Philip Schumm, A. Hillary Steinhart, Stephan R. Targan, Ramnik J. Xavier, the NIDDK IBD Genetics Consortium, Cécile Libioulle, Cynthia Sandor, Mark Lathrop, Jacques Belaiche, Olivier Dewit, Ivo Gut, Simon Heath, Debby Laukens, Myriam Mni, Paul Rutgeerts, André Van Gossum, Diana Zelenika, Denis Franchimont, JP Hugot, Martine de Vos, Severine Vermeire, Edouard Louis, the Belgian-French IBD consortium, the Wellcome Trust Case Control Consortium, Lon R. Cardon, Carl A. Anderson, Hazel Drummond, Elaine Nimmo, Tariq Ahmad, Natalie J Prescott, Clive M. Onnie, Sheila A. Fisher, Jonathan Marchini, Jilur Ghori, Suzannah Bumpstead, Rhian Gwillam, Mark Tremelling, Panos Deloukas, John Mansfield, Derek Jewell, Jack Satsangi, Christopher G. Mathew, Miles Parkes, Michel Georges, Mark J. Daly

Nat Genet. Author manuscript; available in PMC 2009 May 1.

Published in final edited form as: Nat Genet. 2008 Aug; 40(8): 955–962. Published online 2008 Jun 29. doi: 10.1038/NG.175

PMCID:: PMC2574810

Abstract Article PDF–575K

Select item 275281114.

Sequential Use of Transcriptional Profiling, Expression Quantitative Trait Mapping, and Gene Association Implicates MMP20 in Human Kidney Aging

Heather E. Wheeler, E. Jeffrey Metter, Toshiko Tanaka, Devin Absher, John Higgins, Jacob M. Zahn, Julie Wilhelmy, Ronald W. Davis, Andrew Singleton, Richard M. Myers, Luigi Ferrucci, Stuart K. Kim

PLoS Genet. 2009 Oct; 5(10): e1000685. Published online 2009 Oct 16. doi: 10.1371/journal.pgen.1000685

PMCID:: PMC2752811

Abstract Article PDF–409K

Select item 329955115.

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 697880016.

FAMIN Is a Multifunctional Purine Enzyme Enabling the Purine Nucleotide Cycle

M. Zaeem Cader, Rodrigo Pereira de Almeida Rodrigues, James A. West, Gavin W. Sewell, Muhammad N. Md-Ibrahim, Stephanie Reikine, Giuseppe Sirago, Lukas W. Unger, Ana Belén Inglesias-Romero, Katharina Ramshorn, Lea-Maxie Haag, Svetlana Saveljeva, Jana-Fabienne Ebel, Philip Rosenstiel, Nicole C. Kaneider, James C. Lee, Trevor D. Lawley, Allan Bradley, Gordon Dougan, Yorgo Modis, Julian L. Griffin, Arthur Kaser

Cell. 2020 Jan 23; 180(2): 278–295.e23. doi: 10.1016/j.cell.2019.12.017

Correction in:: Cell. 2020 Feb 20; 180(4): 815.

PMCID:: PMC6978800

Abstract Article

Select item 349180317.

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 732206718.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 464794119.

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 677813720.

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

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