Predicted loss and gain of function mutations in ACO1 are associated with erythropoiesis.
Communications Biology
Oskarsson, Gudjon R GR; Oddsson, Asmundur A; Magnusson, Magnus K MK; Kristjansson, Ragnar P RP; Halldorsson, Gisli H GH; Ferkingstad, Egil E; Zink, Florian F; Helgadottir, Anna A; Ivarsdottir, Erna V EV; Arnadottir, Gudny A GA; Jensson, Brynjar O BO; Katrinardottir, Hildigunnur H; Sveinbjornsson, Gardar G; Kristinsdottir, Anna M AM; Lee, Amy L AL; Saemundsdottir, Jona J; Stefansdottir, Lilja L; Sigurdsson, Jon K JK; Davidsson, Olafur B OB; Benonisdottir, Stefania S; Jonasdottir, Aslaug A; Jonasdottir, Adalbjorg A; Jonsson, Stefan S; Gudmundsson, Reynir L RL; Asselbergs, Folkert W FW; Tragante, Vinicius V; Gunnarsson, Bjarni B; Masson, Gisli G; Thorleifsson, Gudmar G; Rafnar, Thorunn T; Holm, Hilma H; Olafsson, Isleifur I; Onundarson, Pall T PT; Gudbjartsson, Daniel F DF; Norddahl, Gudmundur L GL; Thorsteinsdottir, Unnur U; Sulem, Patrick P; Stefansson, Kari K
Publication Date: 2020-04-23
Variant appearance in text: ACO1: Thr208Ala; rs61753543
Whole-exon sequencing of human myeloma cell lines shows mutations related to myeloma patients at relapse with major hits in the DNA regulation and repair pathways.
Journal Of Hematology & Oncology
Tessoulin, Benoît B; Moreau-Aubry, Agnès A; Descamps, Géraldine G; Gomez-Bougie, Patricia P; Maïga, Sophie S; Gaignard, Alban A; Chiron, David D; Ménoret, Emmanuelle E; Le Gouill, Steven S; Moreau, Philippe P; Amiot, Martine M; Pellat-Deceunynck, Catherine C
Publication Date: 2018-12-13
Variant appearance in text: ACO1: 622A>G; Thr208Ala; rs61753543
Integrated analysis of germline and somatic variants in ovarian cancer.
Nature Communications
Kanchi, Krishna L KL; Johnson, Kimberly J KJ; Lu, Charles C; McLellan, Michael D MD; Leiserson, Mark D M MD; Wendl, Michael C MC; Zhang, Qunyuan Q; Koboldt, Daniel C DC; Xie, Mingchao M; Kandoth, Cyriac C; McMichael, Joshua F JF; Wyczalkowski, Matthew A MA; Larson, David E DE; Schmidt, Heather K HK; Miller, Christopher A CA; Fulton, Robert S RS; Spellman, Paul T PT; Mardis, Elaine R ER; Druley, Todd E TE; Graubert, Timothy A TA; Goodfellow, Paul J PJ; Raphael, Benjamin J BJ; Wilson, Richard K RK; Ding, Li L