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Select item 88633081.

A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors

Florian Thibord, Melissa V. Chan, Ming-Huei Chen, Andrew D. Johnson

HGG Adv. 2022 Apr 14; 3(2): 100095. Published online 2022 Feb 22. doi: 10.1016/j.xhgg.2022.100095

PMCID:: PMC8863308

Abstract Article PDF–1.0M

Select item 73220672.

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 71699833.

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 67637444.

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination

Stephanie Efthymiou, Vincenzo Salpietro, Nancy Malintan, Mallory Poncelet, Yamna Kriouile, Sara Fortuna, Rita De Zorzi, Katelyn Payne, Lindsay B Henderson, Andrea Cortese, Sateesh Maddirevula, Nadia Alhashmi, Sarah Wiethoff, Mina Ryten, Juan A Botia, Vincenzo Provitera, Markus Schuelke, Jana Vandrovcova, SYNAPS Study Group , Laurence Walsh, Erin Torti, Valeria Iodice, Maryam Najafi, Ehsan Ghayoor Karimiani, Reza Maroofian, Karine Siquier-Pernet, Nathalie Boddaert, Pascale De Lonlay, Vincent Cantagrel, Mhammed Aguennouz, Mohamed El Khorassani, Miriam Schmidts, Fowzan S Alkuraya, Simon Edvardson, Maria Nolano, Jérôme Devaux, Henry Houlden

Brain. 2019 Oct; 142(10): 2948–2964. Published online 2019 Sep 9. doi: 10.1093/brain/awz248

PMCID:: PMC6763744

Abstract Article PDF–2.1M

Select item 67580805.

A New Activity of Doublecortin in Recognition of the Phospho-FIGQY Tyrosine in the Cytoplasmic Domain of Neurofascin

Krishnakumar Kizhatil, Yi-Xin Wu, Anindita Sen, Vann Bennett

J Neurosci. 2002 Sep 15; 22(18): 7948–7958. doi: 10.1523/JNEUROSCI.22-18-07948.2002

PMCID:: PMC6758080

Abstract Article PDF–2.1M

Select item 61966526.

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

Robert Smigiel, Diane L Sherman, Małgorzata Rydzanicz, Anna Walczak, Dorota Mikolajkow, Barbara Krolak-Olejnik, Joanna Kosińska, Piotr Gasperowicz, Anna Biernacka, Piotr Stawinski, Malgorzata Marciniak, Witalij Andrzejewski, Maria Boczar, Paweł Krajewski, Maria M Sasiadek, Peter J Brophy, Rafal Ploski

Hum Mol Genet. 2018 Nov 1; 27(21): 3669–3674. Published online 2018 Aug 13. doi: 10.1093/hmg/ddy277

PMCID:: PMC6196652

Abstract Article PDF–13M

Select item 60843017.

Copy number variation, increased gene expression, and molecular mechanisms of neurofascin in lung cancer

Johanna Samulin Erdem, Yke Jildouw Arnoldussen, Vidar Skaug, Aage Haugen, Shanbeh Zienolddiny

Mol Carcinog. 2017 Sep; 56(9): 2076–2085. Published online 2017 May 2. doi: 10.1002/mc.22664

PMCID:: PMC6084301

Abstract Article PDF–1.9M

Select item 57038788.

The STUbL RNF4 regulates protein group SUMOylation by targeting the SUMO conjugation machinery

Ramesh Kumar, Román González-Prieto, Zhenyu Xiao, Matty Verlaan-de Vries, Alfred C. O. Vertegaal

Nat Commun. 2017; 8: 1809. Published online 2017 Nov 27. doi: 10.1038/s41467-017-01900-x

PMCID:: PMC5703878

Abstract Article PDF–3.7M

Select item 54952259.

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 479378310.

Neurofascin-155 IgG4 in chronic inflammatory demyelinating polyneuropathy

Jérôme J. Devaux, Yumako Miura, Yuki Fukami, Takayuki Inoue, Constance Manso, Maya Belghazi, Kenji Sekiguchi, Norito Kokubun, Hiroo Ichikawa, Anna Hiu Yi Wong, Nobuhiro Yuki

Neurology. 2016 Mar 1; 86(9): 800–807. doi: 10.1212/WNL.0000000000002418

PMCID:: PMC4793783

Abstract Article PDF–741K

Select item 415550811.

Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles

Jacqueline I Goldstein, L Fredrik Jarskog, Chris Hilliard, Ana Alfirevic, Laramie Duncan, Denis Fourches, Hailiang Huang, Monkol Lek, Benjamin M Neale, Stephan Ripke, Kevin Shianna, Jin P Szatkiewicz, Alexander Tropsha, Edwin JCG van den Oord, Ingolf Cascorbi, Michael Dettling, Ephraim Gazit, Donald C Goff, Arthur L Holden, Deanna L Kelly, Anil K Malhotra, Jimmi Nielsen, Munir Pirmohamed, Dan Rujescu, Thomas Werge, Deborah L Levy, Richard C Josiassen, James L Kennedy, Jeffrey A Lieberman, Mark J Daly, Patrick F Sullivan

Nat Commun. Author manuscript; available in PMC 2015 Mar 4.

Published in final edited form as: Nat Commun. 2014; 5: 4757. Published online 2014 Sep 4. doi: 10.1038/ncomms5757

PMCID:: PMC4155508

Abstract Article PDF–1.8M

Select item 395975112.

Neurofascin IgG4 antibodies in CIDP associate with disabling tremor and poor response to IVIg

Luis Querol, Gisela Nogales-Gadea, Ricardo Rojas-Garcia, Jordi Diaz-Manera, Julio Pardo, Angel Ortega-Moreno, Maria Jose Sedano, Eduard Gallardo, Jose Berciano, Rafael Blesa, Josep Dalmau, Isabel Illa

Neurology. 2014 Mar 11; 82(10): 879–886. doi: 10.1212/WNL.0000000000000205