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: ARID1A: 4524T>A; Tyr1508Ter
Personalised selection of experimental treatment in patients with advanced solid cancer is feasible using whole-genome sequencing.
British Journal Of Cancer
Pruis, Melinda A MA; Groenendijk, Floris H FH; Badloe, K Sangeeta KS; van Puffelen, Andrea A; Robbrecht, Debbie D; Dinjens, Winand N M WNM; Sleijfer, Stefan S; Dingemans, Anne-Marie C AC; von der Thüsen, Jan H JH; Roepman, Paul P; Lolkema, Martijn P MP
Somatic mutations in the chromatin remodeling gene ARID1A occur in several tumor types.
Human Mutation
Jones, Siân S; Li, Meng M; Parsons, D Williams DW; Zhang, Xiaosong X; Wesseling, Jelle J; Kristel, Petra P; Schmidt, Marjanka K MK; Markowitz, Sanford S; Yan, Hai H; Bigner, Darell D; Hruban, Ralph H RH; Eshleman, James R JR; Iacobuzio-Donahue, Christine A CA; Goggins, Michael M; Maitra, Anirban A; Malek, Sami N SN; Powell, Steve S; Vogelstein, Bert B; Kinzler, Kenneth W KW; Velculescu, Victor E VE; Papadopoulos, Nickolas N