Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Nature
Mensah, Martin A MA; Niskanen, Henri H; Magalhaes, Alexandre P AP; Basu, Shaon S; Kircher, Martin M; Sczakiel, Henrike L HL; Reiter, Alisa M V AMV; Elsner, Jonas J; Meinecke, Peter P; Biskup, Saskia S; Chung, Brian H Y BHY; Dombrowsky, Gregor G; Eckmann-Scholz, Christel C; Hitz, Marc Phillip MP; Hoischen, Alexander A; Holterhus, Paul-Martin PM; Hülsemann, Wiebke W; Kahrizi, Kimia K; Kalscheuer, Vera M VM; Kan, Anita A; Krumbiegel, Mandy M; Kurth, Ingo I; Leubner, Jonas J; Longardt, Ann Carolin AC; Moritz, Jörg D JD; Najmabadi, Hossein H; Skipalova, Karolina K; Snijders Blok, Lot L; Tzschach, Andreas A; Wiedersberg, Eberhard E; Zenker, Martin M; Garcia-Cabau, Carla C; Buschow, René R; Salvatella, Xavier X; Kraushar, Matthew L ML; Mundlos, Stefan S; Caliebe, Almuth A; Spielmann, Malte M; Horn, Denise D; Hnisz, Denes D
Publication Date: 2023-02-08
Variant appearance in text: TSC2: 5329C>T; Pro1777Ser
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Scientific Reports
Nastase, Anca A; Mandal, Amit A; Lu, Shir Kiong SK; Anbunathan, Hima H; Morris-Rosendahl, Deborah D; Zhang, Yu Zhi YZ; Sun, Xiao-Ming XM; Gennatas, Spyridon S; Rintoul, Robert C RC; Edwards, Matthew M; Bowman, Alex A; Chernova, Tatyana T; Benepal, Tim T; Lim, Eric E; Taylor, Anthony Newman AN; Nicholson, Andrew G AG; Popat, Sanjay S; Willis, Anne E AE; MacFarlane, Marion M; Lathrop, Mark M; Bowcock, Anne M AM; Moffatt, Miriam F MF; Cookson, William O C M WOCM
Publication Date: 2021-09-27
Variant appearance in text: TSC2: 5329C>T; Pro1777Ser; rs781226141