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: DDX20: 2077C>T; Arg693Cys; rs197414
Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.
Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
miRNA processing gene polymorphisms, blood DNA methylation age and long-term ambient PM2.5 exposure in elderly men.
Epigenomics
Nwanaji-Enwerem, Jamaji C JC; Colicino, Elena E; Dai, Lingzhen L; Di, Qian Q; Just, Allan C AC; Hou, Lifang L; Vokonas, Pantel P; De Vivo, Immaculata I; Lemos, Bernardo B; Lu, Quan Q; Weisskopf, Marc G MG; Baccarelli, Andrea A AA; Schwartz, Joel D JD
Long-term exposure to black carbon, cognition and single nucleotide polymorphisms in microRNA processing genes in older men.
Environment International
Colicino, Elena E; Giuliano, Giulia G; Power, Melinda C MC; Lepeule, Johanna J; Wilker, Elissa H EH; Vokonas, Pantel P; Brennan, Kasey J M KJM; Fossati, Serena S; Hoxha, Mirjam M; Spiro, Avron A; Weisskopf, Marc G MG; Schwartz, Joel J; Baccarelli, Andrea A AA
Principles Governing A-to-I RNA Editing in the Breast Cancer Transcriptome.
Cell Reports
Fumagalli, Debora D; Gacquer, David D; Rothé, Françoise F; Lefort, Anne A; Libert, Frederick F; Brown, David D; Kheddoumi, Naima N; Shlien, Adam A; Konopka, Tomasz T; Salgado, Roberto R; Larsimont, Denis D; Polyak, Kornelia K; Willard-Gallo, Karen K; Desmedt, Christine C; Piccart, Martine M; Abramowicz, Marc M; Campbell, Peter J PJ; Sotiriou, Christos C; Detours, Vincent V
MicroRNA processing and binding site polymorphisms are not replicated in the Ovarian Cancer Association Consortium.
Cancer Epidemiology, Biomarkers & Prevention : A Publication Of The American Association For Cancer Research, Cosponsored By The American Society Of Preventive Oncology
Permuth-Wey, Jennifer J; Chen, Zhihua Z; Tsai, Ya-Yu YY; Lin, Hui-Yi HY; Chen, Y Ann YA; Barnholtz-Sloan, Jill J; Birrer, Michael J MJ; Chanock, Stephen J SJ; Cramer, Daniel W DW; Cunningham, Julie M JM; Fenstermacher, David D; Fridley, Brooke L BL; Garcia-Closas, Montserrat M; Gayther, Simon A SA; Gentry-Maharaj, Aleksandra A; Gonzalez-Bosquet, Jesus J; Iversen, Edwin E; Jim, Heather H; McLaughlin, John J; Menon, Usha U; Narod, Steven A SA; Phelan, Catherine M CM; Ramus, Susan J SJ; Risch, Harvey H; Song, Honglin H; Sutphen, Rebecca R; Terry, Kathryn L KL; Tyrer, Jonathan J; Vierkant, Robert A RA; Wentzensen, Nicolas N; Lancaster, Johnathan M JM; Cheng, Jin Q JQ; Berchuck, Andrew A; Pharoah, Paul D P PD; Schildkraut, Joellen M JM; Goode, Ellen L EL; Sellers, Thomas A TA; ,