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Items: 1 to 20 of 26

1.
Human CARMIL2 deficiency underlies a broader immunological and clinical phenotype than CD28 deficiency
Romain Lévy, Florian Gothe, Mana Momenilandi, Thomas Magg, Marie Materna, Philipp Peters, Johannes Raedler, Quentin Philippot, Anita Lena Rack-Hoch, David Langlais, Mathieu Bourgey, Anna-Lisa Lanz, Masato Ogishi, Jérémie Rosain, Emmanuel Martin, Sylvain Latour, Natasha Vladikine, Marco Distefano, Taushif Khan, Franck Rapaport, Marian S. Schulz, Ursula Holzer, Anders Fasth, Georgios Sogkas, Carsten Speckmann, Arianna Troilo, Venetia Bigley, Anna Roppelt, Yael Dinur-Schejter, Ori Toker, Karen Helene Bronken Martinsen, Roya Sherkat, Ido Somekh, Raz Somech, Dror S. Shouval, Jörn-Sven Kühl, Winnie Ip, Elizabeth M. McDermott, Lucy Cliffe, Ahmet Ozen, Safa Baris, Hemalatha G. Rangarajan, Emmanuelle Jouanguy, Anne Puel, Jacinta Bustamante, Marie-Alexandra Alyanakian, Mathieu Fusaro, Yi Wang, Xiao-Fei Kong, Aurélie Cobat, David Boutboul, Martin Castelle, Claire Aguilar, Olivier Hermine, Morgane Cheminant, Felipe Suarez, Alisan Yildiran, Aziz Bousfiha, Hamoud Al-Mousa, Fahad Alsohime, Deniz Cagdas, Roshini S. Abraham, Alan P. Knutsen, Borre Fevang, Sagar Bhattad, Ayca Kiykim, Baran Erman, Tugba Arikoglu, Ekrem Unal, Ashish Kumar, Christoph B. Geier, Ulrich Baumann, Bénédicte Neven, CARMIL2 Consortium, Meino Rohlfs, Christoph Walz, Laurent Abel, Bernard Malissen, Nico Marr, Christoph Klein, Jean-Laurent Casanova, Fabian Hauck, Vivien Béziat
J Exp Med. 2023 Feb 6; 220(2): e20220275. Published online 2022 Dec 14. doi: 10.1084/jem.20220275
PMCID:
PMC9754768
AbstractArticlePDF–7.7M
2.
Novel CARMIL2 loss-of-function variants are associated with pediatric inflammatory bowel disease
Luca Bosa, Vritika Batura, Davide Colavito, Karoline Fiedler, Paola Gaio, Conghui Guo, Qi Li, Antonio Marzollo, Claudia Mescoli, Ryusuke Nambu, Jie Pan, Giorgio Perilongo, Neil Warner, Shiqi Zhang, Daniel Kotlarz, Christoph Klein, Scott B. Snapper, Thomas D. Walters, Alberta Leon, Anne M. Griffiths, Mara Cananzi, Aleixo M. Muise
Sci Rep. 2021; 11: 5945. Published online 2021 Mar 15. doi: 10.1038/s41598-021-85399-9
PMCID:
PMC7960730
AbstractArticlePDF–8.6M
3.
A Novel Pathogenic Variant in CARMIL2 (RLTPR) Causing CARMIL2 Deficiency and EBV-Associated Smooth Muscle Tumors
Jennifer R. Yonkof, Ajay Gupta, Cesar M. Rueda, Shamlal Mangray, Benjamin T. Prince, Hemalatha G. Rangarajan, Mohammad Alshahrani, Elizabeth Varga, Timothy P. Cripe, Roshini S. Abraham
Front Immunol. 2020; 11: 884. Published online 2020 Jun 18. doi: 10.3389/fimmu.2020.00884
PMCID:
PMC7314954
AbstractArticlePDF–537K
4.
Exogenous interleukin‐2 can rescue in‐vitro T cell activation and proliferation in patients with a novel capping protein regulator and myosin 1 linker 2 mutation
O. Shamriz, A. J. Simon, A. Lev, O. Megged, O. Ledder, E. Picard, L. Joseph, V. Molho-Pessach, Y. Tal, P. Millman, M. Slae, R. Somech, O. Toker, M. Berger
Clin Exp Immunol. 2020 Jun; 200(3): 215–227. Published online 2020 Apr 18. doi: 10.1111/cei.13432
PMCID:
PMC7232008
AbstractArticlePDF–924K
5.
CARMIL2 Deficiency Presenting as Very Early Onset Inflammatory Bowel Disease
Thomas Magg, Anna Shcherbina, Duran Arslan, Mukesh M Desai, Sarah Wall, Vanessa Mitsialis, Raffaele Conca, Ekrem Unal, Neslihan Karacabey, Anna Mukhina, Yulia Rodina, Prasad D Taur, David Illig, Benjamin Marquardt, Sebastian Hollizeck, Tim Jeske, Florian Gothe, Tilmann Schober, Meino Rohlfs, Sibylle Koletzko, Eberhard Lurz, Aleixo M Muise, Scott B Snapper, Fabian Hauck, Christoph Klein, Daniel Kotlarz
Inflamm Bowel Dis. 2019 Nov; 25(11): 1788–1795. Published online 2019 May 22. doi: 10.1093/ibd/izz103
PMCID:
PMC6799948
AbstractArticlePDF–12M
6.
Genomic analysis of 220 CTCLs identifies a novel recurrent gain-of-function alteration in RLTPR (p.Q575E)
Joonhee Park, Jingyi Yang, Alexander T. Wenzel, Akshaya Ramachandran, Wung J. Lee, Jay C. Daniels, Juhyun Kim, Estela Martinez-Escala, Nduka Amankulor, Barbara Pro, Joan Guitart, Marc L. Mendillo, Jeffrey N. Savas, Titus J. Boggon, Jaehyuk Choi
Blood. 2017 Sep 21; 130(12): 1430–1440. Prepublished online 2017 Jul 10. doi: 10.1182/blood-2017-02-768234
PMCID:
PMC5609333
AbstractArticle
7.
A human immunodeficiency syndrome caused by mutations in CARMIL2
T. Schober, T. Magg, M. Laschinger, M. Rohlfs, N. D. Linhares, J. Puchalka, T. Weisser, K. Fehlner, J. Mautner, C. Walz, K. Hussein, G. Jaeger, B. Kammer, I. Schmid, M. Bahia, S. D. Pena, U. Behrends, B. H. Belohradsky, C. Klein, F. Hauck
Nat Commun. 2017; 8: 14209. Published online 2017 Jan 23. doi: 10.1038/ncomms14209
PMCID:
PMC5473639
AbstractArticlePDF–5.6M
8.
A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T‐cell dysfunction
Hanne S. Sorte, Liv T. Osnes, Børre Fevang, Pål Aukrust, Hans C. Erichsen, Paul H. Backe, Tore G. Abrahamsen, Ole B. Kittang, Torstein Øverland, Shalini N. Jhangiani, Donna M. Muzny, Magnus D. Vigeland, Pubudu Samarakoon, Tomasz Gambin, Zeynep H. C. Akdemir, Richard A. Gibbs, Olaug K. Rødningen, Robert Lyle, James R. Lupski, Asbjørg Stray‐Pedersen
Mol Genet Genomic Med. 2016 Nov; 4(6): 604–616. Published online 2016 Sep 17. doi: 10.1002/mgg3.237
PMCID:
PMC5118205
AbstractArticlePDF–2.7M
9.
Dual T cell– and B cell–intrinsic deficiency in humans with biallelic RLTPR mutations
Yi Wang, Cindy S. Ma, Yun Ling, Aziz Bousfiha, Yildiz Camcioglu, Serge Jacquot, Kathryn Payne, Elena Crestani, Romain Roncagalli, Aziz Belkadi, Gaspard Kerner, Lazaro Lorenzo, Caroline Deswarte, Maya Chrabieh, Etienne Patin, Quentin B. Vincent, Ingrid Müller-Fleckenstein, Bernhard Fleckenstein, Fatima Ailal, Lluis Quintana-Murci, Sylvie Fraitag, Marie-Alexandra Alyanakian, Marianne Leruez-Ville, Capucine Picard, Anne Puel, Jacinta Bustamante, Stéphanie Boisson-Dupuis, Marie Malissen, Bernard Malissen, Laurent Abel, Alain Hovnanian, Luigi D. Notarangelo, Emmanuelle Jouanguy, Stuart G. Tangye, Vivien Béziat, Jean-Laurent Casanova
J Exp Med. 2016 Oct 17; 213(11): 2413–2435. doi: 10.1084/jem.20160576
PMCID:
PMC5068239
AbstractArticlePDF–2.7M
10.
Synaptic actin stabilization protein loss in Down syndrome and Alzheimer disease
Julie C. Lauterborn, Conor D. Cox, See Wing Chan, Peter W. Vanderklish, Gary Lynch, Christine M. Gall
Brain Pathol. 2020 Mar; 30(2): 319–331. Published online 2019 Sep 8. doi: 10.1111/bpa.12779
PMCID:
PMC7015764
AbstractArticlePDF–1.3M
11.
The scaffolding function of the RLTPR protein explains its essential role for CD28 co-stimulation in mouse and human T cells
Romain Roncagalli, Margot Cucchetti, Nicolas Jarmuzynski, Claude Grégoire, Elise Bergot, Stéphane Audebert, Emilie Baudelet, Marisa Goncalves Menoita, Anais Joachim, Stéphane Durand, Miloslav Suchanek, Frédéric Fiore, Lichen Zhang, Yinming Liang, Luc Camoin, Marie Malissen, Bernard Malissen
J Exp Med. 2016 Oct 17; 213(11): 2437–2457. doi: 10.1084/jem.20160579
PMCID:
PMC5068240
AbstractArticlePDF–2.7M
12.
CARMIL2 is a novel molecular connection between vimentin and actin essential for cell migration and invadopodia formation
M. Hunter Lanier, Taekyung Kim, John A. Cooper
Mol Biol Cell. 2015 Dec 15; 26(25): 4577–4588. doi: 10.1091/mbc.E15-08-0552
PMCID:
PMC4678016
AbstractArticlePDF–2.1M
13.
Cell Migration and Invadopodia Formation Require a Membrane-binding Domain of CARMIL2
M. Hunter Lanier, Patrick McConnell, John A. Cooper
J Biol Chem. 2016 Jan 15; 291(3): 1076–1091. Published online 2015 Nov 17. doi: 10.1074/jbc.M115.676882
PMCID:
PMC4714192
AbstractArticlePDF–5.7M
14.
Distinct Roles for CARMIL Isoforms in Cell Migration
Yun Liang, Hanspeter Niederstrasser, Marc Edwards, Charles E. Jackson, John A. Cooper
Mol Biol Cell. 2009 Dec 15; 20(24): 5290–5305. doi: 10.1091/mbc.E08-10-1071
PMCID:
PMC2793302
AbstractArticlePDF–4.5M
15.
NOTCH1 Nuclear Interactome Reveals Key Regulators of Its Transcriptional Activity and Oncogenic Function
Ahmad Yatim, Clarisse Benne, Bijan Sobhian, Sabine Laurent-Chabalier, Olivier Deas, Jean-Gabriel Judde, Jean-Daniel Lelievre, Yves Levy, Monsef Benkirane
Mol Cell. Author manuscript; available in PMC 2013 Mar 13.
Published in final edited form as: Mol Cell. 2012 Nov 9; 48(3): 445–458. Published online 2012 Sep 27. doi: 10.1016/j.molcel.2012.08.022
PMCID:
PMC3595990
AbstractArticlePDF–3.9M
16.
HIV–host interactome revealed directly from infected cells
Yang Luo, Erica Y. Jacobs, Todd M. Greco, Kevin D. Mohammed, Tommy Tong, Sarah Keegan, James M. Binley, Ileana M. Cristea, David Fenyö, Michael P. Rout, Brian T. Chait, Mark A. Muesing
Nat Microbiol. Author manuscript; available in PMC 2016 Jul 1.
Published in final edited form as: Nat Microbiol. 2016 Jul; 1(7): 16068. Published online 2016 May 23. doi: 10.1038/nmicrobiol.2016.68
PMCID:
PMC4928716
AbstractArticlePDF–1.1M
17.
MBD5 and MBD6 stabilize the BAP1 complex and promote BAP1-dependent cancer
Natsumi Tsuboyama, Aileen Patricia Szczepanski, Zibo Zhao, Lu Wang
Genome Biol. 2022; 23: 206. Published online 2022 Sep 30. doi: 10.1186/s13059-022-02776-x
PMCID:
PMC9523997
AbstractArticlePDF–6.9M
18.
The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2
Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari
Mol Cell. Author manuscript; available in PMC 2020 Feb 21.
Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001
PMCID:
PMC6386588
AbstractArticlePDF–1.7M
19.
Charting the Landscape of Tandem BRCT Domain-Mediated Protein Interactions
Nicholas T. Woods, Rafael D. Mesquita, Michael Sweet, Marcelo A. Carvalho, Xueli Li, Yun Liu, Huey Nguyen, C. Eric Thomas, Edwin S. Iversen, Jr., Sylvia Marsillac, Rachel Karchin, John Koomen, Alvaro N.A. Monteiro
Sci Signal. Author manuscript; available in PMC 2014 Jun 20.
Published in final edited form as: Sci Signal. 2012; 5(242): rs6. Published online 2012 Sep 18. doi: 10.1126/scisignal.2002255
PMCID:
PMC4064718
AbstractArticlePDF–2.1M
20.
A dynamic protein interaction landscape of the human centrosome-cilium interface
Gagan D. Gupta, Étienne Coyaud, João Gonçalves, Bahareh A. Mojarad, Yi Liu, Qianzhu Wu, Ladan Gheiratmand, David Comartin, Johnny M. Tkach, Sally W.T. Cheung, Mikhail Bashkurov, Monica Hasegan, James D. Knight, Zhen-Yuan Lin, Markus Schueler, Friedhelm Hildebrandt, Jason Moffat, Anne-Claude Gingras, Brian Raught, Laurence Pelletier
Cell. Author manuscript; available in PMC 2016 Dec 3.
Published in final edited form as: Cell. 2015 Dec 3; 163(6): 1484–1499. doi: 10.1016/j.cell.2015.10.065
PMCID:
PMC5089374
AbstractArticlePDF–1.5M

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