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4
Academic Journal
Recurrent PTPRB and PLCG1 mutations in angiosarcoma

Authors: Behjati, Sam, Tarpey, Patrick S, Sheldon, Helen, Martincorena, Inigo, Van Loo, Peter, Gundem, Gunes, Wedge, David C, Ramakrishna, Manasa, Cooke, Susanna L, Pillay, Nischalan, Vollan, Hans Kristian M, Papaemmanuil, Elli, Koss, Hans, Bunney, Tom D, Hardy, Claire, Joseph, Olivia R, Martin, Sancha, Mudie, Laura, Butler, Adam, Teague, Jon W, Patil, Meena, Steers, Graham, Cao, Yu, Gumbs, Curtis, Ingram, Davis, Lazar, Alexander J, Little, Latasha, Mahadeshwar, Harshad, Protopopov, Alexei, Al Sannaa, Ghadah A, Seth, Sahil, Song, Xingzhi, Tang, Jiabin, Zhang, Jianhua, Ravi, Vinod, Torres, Keila E, Khatri, Bhavisha, Halai, Dina, Roxanis, Ioannis, Baumhoer, Daniel, Tirabosco, Roberto, Amary, M Fernanda, Boshoff, Chris, McDermott, Ultan, Katan, Matilda, Stratton, Michael R, Futreal, P Andrew, Flanagan, Adrienne M, Harris, Adrian, Campbell, Peter J

Subject Terms: Analysis of Variance, Base Sequence, Exome, Hemangiosarcoma, Human Umbilical Vein Endothelial Cells, Humans, Molecular Sequence Data, Mutation, Neovascularization, Pathologic, Phospholipase C gamma, RNA Interference, Receptor-Like Protein Tyrosine Phosphatases, Class 3, Sequence Analysis, RNA, Vascular Endothelial Growth Factor A

Relation: Nature Genetics vol:46 issue:4 pages:376-9; https://lirias.kuleuven.be/handle/123456789/522289; http://dx.doi.org/10.1038/ng.2921

Availability: https://doi.org/10.1038/ng.2921
https://lirias.kuleuven.be/handle/123456789/522289

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5
Academic Journal
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling

Authors: Rice, Gillian I, del Toro Duany, Yoandris, Jenkinson, Emma M, Forte, Gabriella M A, Anderson, Beverley H, Ariaudo, Giada, Bader-Meunier, Brigitte, Baildam, Eileen M, Battini, Roberta, Beresford, Michael W, Casarano, Manuela, Chouchane, Mondher, Cimaz, Rolando, Collins, Abigail E, Cordeiro, Nuno J V, Dale, Russell C, Davidson, Joyce E, De Waele, Liesbeth, Desguerre, Isabelle, Faivre, Laurence, Fazzi, Elisa, Isidor, Bertrand, Lagae, Lieven, Latchman, Andrew R, Lebon, Pierre, Li, Chumei, Livingston, John H, Lourenço, Charles M, Mancardi, Maria Margherita, Masurel-Paulet, Alice, McInnes, Iain B, Menezes, Manoj P, Mignot, Cyril, O'Sullivan, James, Orcesi, Simona, Picco, Paolo P, Riva, Enrica, Robinson, Robert A, Rodriguez, Diana, Salvatici, Elisabetta, Scott, Christiaan, Szybowska, Marta, Tolmie, John L, Vanderver, Adeline, Vanhulle, Catherine, Vieira, Jose Pedro, Webb, Kate, Whitney, Robyn N, Williams, Simon G, Wolfe, Lynne A, Zuberi, Sameer M, Hur, Sun, Crow, Yanick J

Subject Terms: Analysis of Variance, Autoimmune Diseases of the Nervous System, Base Sequence, DEAD-box RNA Helicases, Electrophoretic Mobility Shift Assay, Exome, HEK293 Cells, Humans, Interferon Type I, Microsatellite Repeats, Models, Molecular, Molecular Sequence Data, Mutation, Nervous System Malformations, Phenotype, Real-Time Polymerase Chain Reaction, Sequence Analysis, DNA, Signal Transduction, Spectrum Analysis

Relation: Nature Genetics vol:46 issue:5 pages:503-9; https://lirias.kuleuven.be/handle/123456789/461658

Availability: https://lirias.kuleuven.be/handle/123456789/461658


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