Genomic complexity predicts resistance to endocrine therapy and CDK4/6 inhibition in hormone receptor-positive (HR+)/HER2-negative metastatic breast cancer.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Davis, Andrew A AA; Luo, Jingqin J; Zheng, Tiantian T; Dai, Chao C; Dong, Xiaoxi X; Tan, Lu L; Suresh, Rama R; Ademuyiwa, Foluso O FO; Rigden, Caron C; Rearden, Timothy P TP; Clifton, Katherine K; Weilbaecher, Katherine K; Frith, Ashley A; Tandra, Pavankumar K PK; Summa, Tracy T; Haas, Brittney B; Thomas, Shana S; Hernandez-Aya, Leonel F LF; Peterson, Lindsay L LL; Wang, Xiaohong X; Luo, Shujun J SJ; Zhou, Kemin K; Du, Pan P; Jia, Shidong S; King, Bonnie L BL; Krishnamurthy, Jairam J; Ma, Cynthia X CX
Publication Date: 2023-01-24
Variant appearance in text: SI: 5234T>G; Phe1745Cys
Hypomorphic SI genetic variants are associated with childhood chronic loose stools.
Plos One
Chumpitazi, Bruno P BP; Lewis, Jeffery J; Cooper, Derick D; D'Amato, Mauro M; Lim, Joel J; Gupta, Sandeep S; Miranda, Adrian A; Terry, Natalie N; Mehta, Devendra D; Scheimann, Ann A; O'Gorman, Molly M; Tipnis, Neelesh N; Davies, Yinka Y; Friedlander, Joel J; Smith, Heather H; Punati, Jaya J; Khlevner, Julie J; Setty, Mala M; Di Lorenzo, Carlo C
Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.
Oncotarget
Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K
Publication Date: 2017-11-21
Variant appearance in text: SI: 5234T>G; F1745C; rs79717168
Functional variants in the sucrase-isomaltase gene associate with increased risk of irritable bowel syndrome.
Gut
Henström, Maria M; Diekmann, Lena L; Bonfiglio, Ferdinando F; Hadizadeh, Fatemeh F; Kuech, Eva-Maria EM; von Köckritz-Blickwede, Maren M; Thingholm, Louise B LB; Zheng, Tenghao T; Assadi, Ghazaleh G; Dierks, Claudia C; Heine, Martin M; Philipp, Ute U; Distl, Ottmar O; Money, Mary E ME; Belheouane, Meriem M; Heinsen, Femke-Anouska FA; Rafter, Joseph J; Nardone, Gerardo G; Cuomo, Rosario R; Usai-Satta, Paolo P; Galeazzi, Francesca F; Neri, Matteo M; Walter, Susanna S; Simrén, Magnus M; Karling, Pontus P; Ohlsson, Bodil B; Schmidt, Peter T PT; Lindberg, Greger G; Dlugosz, Aldona A; Agreus, Lars L; Andreasson, Anna A; Mayer, Emeran E; Baines, John F JF; Engstrand, Lars L; Portincasa, Piero P; Bellini, Massimo M; Stanghellini, Vincenzo V; Barbara, Giovanni G; Chang, Lin L; Camilleri, Michael M; Franke, Andre A; Naim, Hassan Y HY; D'Amato, Mauro M