A Phase II Trial of Guadecitabine plus Atezolizumab in Metastatic Urothelial Carcinoma Progressing after Initial Immune Checkpoint Inhibitor Therapy.
Clinical Cancer Research : An Official Journal Of The American Association For Cancer Research
Jang, H Josh HJ; Hostetter, Galen G; MacFarlane, Alexander W AW; Madaj, Zachary Z; Ross, Eric A EA; Hinoue, Toshinori T; Kulchycki, Justin R JR; Burgos, Ryan S RS; Tafseer, Mahvish M; Alpaugh, R Katherine RK; Schwebel, Candice L CL; Kokate, Rutika R; Geynisman, Daniel M DM; Zibelman, Matthew R MR; Ghatalia, Pooja P; Nichols, Peter W PW; Chung, Woonbok W; Madzo, Jozef J; Hahn, Noah M NM; Quinn, David I DI; Issa, Jean-Pierre J JJ; Topper, Michael J MJ; Baylin, Stephen B SB; Shen, Hui H; Campbell, Kerry S KS; Jones, Peter A PA; Plimack, Elizabeth R ER
PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Guimier, Anne A; Achleitner, Melanie T MT; Moreau de Bellaing, Anne A; Edwards, Matthew M; de Pontual, Loïc L; Mittal, Kirti K; Dunn, Kyla E KE; Grove, Megan E ME; Tysoe, Carolyn J CJ; Dimartino, Clémantine C; Cameron, Jessie J; Kanthi, Anil A; Shukla, Anju A; van den Broek, Florence F; Chatterjee, Diptendu D; Alston, Charlotte L CL; Knowles, Charlotte V CV; Brett, Laura L; Till, Jan A JA; Homfray, Tessa T; French, Paul P; Spentzou, Georgia G; Elserafy, Noha A NA; Lichkus, Kate S KS; Sankaran, Bindu P BP; Kennedy, Hannah L HL; George, Peter M PM; Kidd, Alexa A; Wortmann, Saskia B SB; Fisk, Dianna G DG; Koopmann, Tamara T TT; Rafiq, Muhammad A MA; Merker, Jason D JD; Parikh, Sumith S; Ahimaz, Priyanka P; Weintraub, Robert G RG; Ma, Alan S AS; Turner, Christian C; Ellaway, Carolyn J CJ; Phillips, Liza K LK; Thorburn, David R DR; Chung, Wendy K WK; Kana, Sajel L SL; Faye-Petersen, Ona M OM; Thompson, Michelle L ML; Janin, Alexandre A; McLeod, Karen K; McGowan, Ruth R; McFarland, Robert R; Girisha, Katta M KM; Morris-Rosendahl, Deborah J DJ; Hurst, Anna C E ACE; Turner, Claire L S CLS; Hamilton, Robert M RM; Taylor, Robert W RW; Bajolle, Fanny F; Gordon, Christopher T CT; Amiel, Jeanne J; Mayr, Johannes A JA; Doudney, Kit K
Proteogenomic Landscape of Breast Cancer Tumorigenesis and Targeted Therapy.
Cell
Krug, Karsten K; Jaehnig, Eric J EJ; Satpathy, Shankha S; Blumenberg, Lili L; Karpova, Alla A; Anurag, Meenakshi M; Miles, George G; Mertins, Philipp P; Geffen, Yifat Y; Tang, Lauren C LC; Heiman, David I DI; Cao, Song S; Maruvka, Yosef E YE; Lei, Jonathan T JT; Huang, Chen C; Kothadia, Ramani B RB; Colaprico, Antonio A; Birger, Chet C; Wang, Jarey J; Dou, Yongchao Y; Wen, Bo B; Shi, Zhiao Z; Liao, Yuxing Y; Wiznerowicz, Maciej M; Wyczalkowski, Matthew A MA; Chen, Xi Steven XS; Kennedy, Jacob J JJ; Paulovich, Amanda G AG; Thiagarajan, Mathangi M; Kinsinger, Christopher R CR; Hiltke, Tara T; Boja, Emily S ES; Mesri, Mehdi M; Robles, Ana I AI; Rodriguez, Henry H; Westbrook, Thomas F TF; Ding, Li L; Getz, Gad G; Clauser, Karl R KR; Fenyö, David D; Ruggles, Kelly V KV; Zhang, Bing B; Mani, D R DR; Carr, Steven A SA; Ellis, Matthew J MJ; Gillette, Michael A MA; ,
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Nature Communications
Gomes, Carolina Cavalieri CC; Gayden, Tenzin T; Bajic, Andrea A; Harraz, Osama F OF; Pratt, Jonathan J; Nikbakht, Hamid H; Bareke, Eric E; Diniz, Marina Gonçalves MG; Castro, Wagner Henriques WH; St-Onge, Pascal P; Sinnett, Daniel D; Han, HyeRim H; Rivera, Barbara B; Mikael, Leonie G LG; De Jay, Nicolas N; Kleinman, Claudia L CL; Valera, Elvis Terci ET; Bassenden, Angelia V AV; Berghuis, Albert M AM; Majewski, Jacek J; Nelson, Mark T MT; Gomez, Ricardo Santiago RS; Jabado, Nada N
Publication Date: 2018-11-01
Variant appearance in text: PPA2: V243L; rs148492084
Discovery of coding regions in the human genome by integrated proteogenomics analysis workflow.
Nature Communications
Zhu, Yafeng Y; Orre, Lukas M LM; Johansson, Henrik J HJ; Huss, Mikael M; Boekel, Jorrit J; Vesterlund, Mattias M; Fernandez-Woodbridge, Alejandro A; Branca, Rui M M RMM; Lehtiö, Janne J
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2.
American Journal Of Human Genetics
Kennedy, Hannah H; Haack, Tobias B TB; Hartill, Verity V; Mataković, Lavinija L; Baumgartner, E Regula ER; Potter, Howard H; Mackay, Richard R; Alston, Charlotte L CL; O'Sullivan, Siobhan S; McFarland, Robert R; Connolly, Grainne G; Gannon, Caroline C; King, Richard R; Mead, Scott S; Crozier, Ian I; Chan, Wandy W; Florkowski, Chris M CM; Sage, Martin M; Höfken, Thomas T; Alhaddad, Bader B; Kremer, Laura S LS; Kopajtich, Robert R; Feichtinger, René G RG; Sperl, Wolfgang W; Rodenburg, Richard J RJ; Minet, Jean Claude JC; Dobbie, Angus A; Strom, Tim M TM; Meitinger, Thomas T; George, Peter M PM; Johnson, Colin A CA; Taylor, Robert W RW; Prokisch, Holger H; Doudney, Kit K; Mayr, Johannes A JA
Publication Date: 2016-09-01
Variant appearance in text: PPA2: 727G>T; Val243Leu
Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.
Plos Genetics
Haiman, Christopher A CA; Han, Ying Y; Feng, Ye Y; Xia, Lucy L; Hsu, Chris C; Sheng, Xin X; Pooler, Loreall C LC; Patel, Yesha Y; Kolonel, Laurence N LN; Carter, Erin E; Park, Karen K; Le Marchand, Loic L; Van Den Berg, David D; Henderson, Brian E BE; Stram, Daniel O DO