Beneficial effects of mifepristone treatment in breast cancer patients selected by the progesterone receptor isoform ratio: Results from the MIPRA trial.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Elía, Andrés A; Saldain, Leo L; Vanzulli, Silvia I SI; Helguero, Luisa A LA; Lamb, Caroline A CA; Fabris, Victoria V; Pataccini, Gabriela G; Martínez-Vazquez, Paula P; Burruchaga, Javier J; Caillet-Bois, Ines I; Spengler, Eunice E; Acosta Haab, Gabriela G; Liguori, Marcos M; Castets, Alejandra A; Lovisi, Silvia S; Abascal, María F MF; Novaro, Virginia V; Sánchez, Jana J; Muñoz, Javier J; Belizán, Jose M JM; Abba, Martín C MC; Gass, Hugo H; Rojas, Paola P; Lanari, Claudia C
Publication Date: 2022-10-21
Variant appearance in text: MCEE: 428G>A; Arg143His; rs115175255
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Nature Communications
Fragoza, Robert R; Das, Jishnu J; Wierbowski, Shayne D SD; Liang, Jin J; Tran, Tina N TN; Liang, Siqi S; Beltran, Juan F JF; Rivera-Erick, Christen A CA; Ye, Kaixiong K; Wang, Ting-Yi TY; Yao, Li L; Mort, Matthew M; Stenson, Peter D PD; Cooper, David N DN; Wei, Xiaomu X; Keinan, Alon A; Schimenti, John C JC; Clark, Andrew G AG; Yu, Haiyuan H
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Peng, Gang G; Shen, Peidong P; Gandotra, Neeru N; Le, Anthony A; Fung, Eula E; Jelliffe-Pawlowski, Laura L; Davis, Ronald W RW; Enns, Gregory M GM; Zhao, Hongyu H; Cowan, Tina M TM; Scharfe, Curt C
Whole-genome sequencing of the world's oldest people.
Plos One
Gierman, Hinco J HJ; Fortney, Kristen K; Roach, Jared C JC; Coles, Natalie S NS; Li, Hong H; Glusman, Gustavo G; Markov, Glenn J GJ; Smith, Justin D JD; Hood, Leroy L; Coles, L Stephen LS; Kim, Stuart K SK
Publication Date: 2014
Variant appearance in text: MCEE: R143H; rs115175255
Effects of the absence of apolipoprotein e on lipoproteins, neurocognitive function, and retinal function.
Jama Neurology
Mak, Angel C Y AC; Pullinger, Clive R CR; Tang, Ling Fung LF; Wong, Jinny S JS; Deo, Rahul C RC; Schwarz, Jean-Marc JM; Gugliucci, Alejandro A; Movsesyan, Irina I; Ishida, Brian Y BY; Chu, Catherine C; Poon, Annie A; Kim, Phillip P; Stock, Eveline O EO; Schaefer, Ernst J EJ; Asztalos, Bela F BF; Castellano, Joseph M JM; Wyss-Coray, Tony T; Duncan, Jacque L JL; Miller, Bruce L BL; Kane, John P JP; Kwok, Pui-Yan PY; Malloy, Mary J MJ
Publication Date: 2014-10
Variant appearance in text: MCEE: R143H; rs115175255
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