Evolution of age-related mutation-driven clonal haematopoiesis over 20 years is associated with metabolic dysfunction in obesity.
Ebiomedicine
Andersson-Assarsson, Johanna C JC; van Deuren, Rosanne C RC; Kristensson, Felipe M FM; Steehouwer, Marloes M; Sjöholm, Kajsa K; Svensson, Per-Arne PA; Pieterse, Marc M; Gilissen, Christian C; Taube, Magdalena M; Jacobson, Peter P; Perkins, Rosie R; Brunner, Han G HG; Netea, Mihai G MG; Peltonen, Markku M; Carlsson, Björn B; Hoischen, Alexander A; Carlsson, Lena M S LMS
Publication Date: 2023-05-18
Variant appearance in text: DNMT3A: 1517A>G; His506Arg
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Inherited causes of clonal haematopoiesis in 97,691 whole genomes.
Nature
Bick, Alexander G AG; Weinstock, Joshua S JS; Nandakumar, Satish K SK; Fulco, Charles P CP; Bao, Erik L EL; Zekavat, Seyedeh M SM; Szeto, Mindy D MD; Liao, Xiaotian X; Leventhal, Matthew J MJ; Nasser, Joseph J; Chang, Kyle K; Laurie, Cecelia C; Burugula, Bala Bharathi BB; Gibson, Christopher J CJ; Lin, Amy E AE; Taub, Margaret A MA; Aguet, Francois F; Ardlie, Kristin K; Mitchell, Braxton D BD; Barnes, Kathleen C KC; Moscati, Arden A; Fornage, Myriam M; Redline, Susan S; Psaty, Bruce M BM; Silverman, Edwin K EK; Weiss, Scott T ST; Palmer, Nicholette D ND; Vasan, Ramachandran S RS; Burchard, Esteban G EG; Kardia, Sharon L R SLR; He, Jiang J; Kaplan, Robert C RC; Smith, Nicholas L NL; Arnett, Donna K DK; Schwartz, David A DA; Correa, Adolfo A; de Andrade, Mariza M; Guo, Xiuqing X; Konkle, Barbara A BA; Custer, Brian B; Peralta, Juan M JM; Gui, Hongsheng H; Meyers, Deborah A DA; McGarvey, Stephen T ST; Chen, Ida Yii-Der IY; Shoemaker, M Benjamin MB; Peyser, Patricia A PA; Broome, Jai G JG; Gogarten, Stephanie M SM; Wang, Fei Fei FF; Wong, Quenna Q; Montasser, May E ME; Daya, Michelle M; Kenny, Eimear E EE; North, Kari E KE; Launer, Lenore J LJ; Cade, Brian E BE; Bis, Joshua C JC; Cho, Michael H MH; Lasky-Su, Jessica J; Bowden, Donald W DW; Cupples, L Adrienne LA; Mak, Angel C Y ACY; Becker, Lewis C LC; Smith, Jennifer A JA; Kelly, Tanika N TN; Aslibekyan, Stella S; Heckbert, Susan R SR; Tiwari, Hemant K HK; Yang, Ivana V IV; Heit, John A JA; Lubitz, Steven A SA; Johnsen, Jill M JM; Curran, Joanne E JE; Wenzel, Sally E SE; Weeks, Daniel E DE; Rao, Dabeeru C DC; Darbar, Dawood D; Moon, Jee-Young JY; Tracy, Russell P RP; Buth, Erin J EJ; Rafaels, Nicholas N; Loos, Ruth J F RJF; Durda, Peter P; Liu, Yongmei Y; Hou, Lifang L; Lee, Jiwon J; Kachroo, Priyadarshini P; Freedman, Barry I BI; Levy, Daniel D; Bielak, Lawrence F LF; Hixson, James E JE; Floyd, James S JS; Whitsel, Eric A EA; Ellinor, Patrick T PT; Irvin, Marguerite R MR; Fingerlin, Tasha E TE; Raffield, Laura M LM; Armasu, Sebastian M SM; Wheeler, Marsha M MM; Sabino, Ester C EC; Blangero, John J; Williams, L Keoki LK; Levy, Bruce D BD; Sheu, Wayne Huey-Herng WH; Roden, Dan M DM; Boerwinkle, Eric E; Manson, JoAnn E JE; Mathias, Rasika A RA; Desai, Pinkal P; Taylor, Kent D KD; Johnson, Andrew D AD; , ; Auer, Paul L PL; Kooperberg, Charles C; Laurie, Cathy C CC; Blackwell, Thomas W TW; Smith, Albert V AV; Zhao, Hongyu H; Lange, Ethan E; Lange, Leslie L; Rich, Stephen S SS; Rotter, Jerome I JI; Wilson, James G JG; Scheet, Paul P; Kitzman, Jacob O JO; Lander, Eric S ES; Engreitz, Jesse M JM; Ebert, Benjamin L BL; Reiner, Alexander P AP; Jaiswal, Siddhartha S; Abecasis, Gonçalo G; Sankaran, Vijay G VG; Kathiresan, Sekar S; Natarajan, Pradeep P
Epigenetic modifiers DNMT3A and BCOR are recurrently mutated in CYLD cutaneous syndrome.
Nature Communications
Davies, Helen R HR; Hodgson, Kirsty K; Schwalbe, Edward E; Coxhead, Jonathan J; Sinclair, Naomi N; Zou, Xueqing X; Cockell, Simon S; Husain, Akhtar A; Nik-Zainal, Serena S; Rajan, Neil N
Publication Date: 2019-10-17
Variant appearance in text: DNMT3A: 1517A>G; H506R
appreci8: a pipeline for precise variant calling integrating 8 tools.
Bioinformatics (Oxford, England)
Sandmann, Sarah S; Karimi, Mohsen M; de Graaf, Aniek O AO; Rohde, Christian C; Göllner, Stefanie S; Varghese, Julian J; Ernsting, Jan J; Walldin, Gunilla G; van der Reijden, Bert A BA; Müller-Tidow, Carsten C; Malcovati, Luca L; Hellström-Lindberg, Eva E; Jansen, Joop H JH; Dugas, Martin M
Publication Date: 2018-12-15
Variant appearance in text: DNMT3A: 1517A>G; His506Arg
Proteomic and genomic integration identifies kinase and differentiation determinants of kinase inhibitor sensitivity in leukemia cells.
Leukemia
Casado, Pedro P; Wilkes, Edmund H EH; Miraki-Moud, Farideh F; Hadi, Marym Mohammad MM; Rio-Machin, Ana A; Rajeeve, Vinothini V; Pike, Rebecca R; Iqbal, Sameena S; Marfa, Santiago S; Lea, Nicholas N; Best, Steven S; Gribben, John J; Fitzgibbon, Jude J; Cutillas, Pedro R PR