D-aspartate oxidase gene duplication induces social recognition memory deficit in mice and intellectual disabilities in humans.
Translational Psychiatry
Lombardo, Barbara B; Pagani, Marco M; De Rosa, Arianna A; Nunziato, Marcella M; Migliarini, Sara S; Garofalo, Martina M; Terrile, Marta M; D'Argenio, Valeria V; Galbusera, Alberto A; Nuzzo, Tommaso T; Ranieri, Annaluisa A; Vitale, Andrea A; Leggiero, Eleonora E; Di Maio, Anna A; Barsotti, Noemi N; Borello, Ugo U; Napolitano, Francesco F; Mandarino, Alessandra A; Carotenuto, Marco M; Heresco-Levy, Uriel U; Pasqualetti, Massimo M; Malatesta, Paolo P; Gozzi, Alessandro A; Errico, Francesco F; Salvatore, Francesco F; Pastore, Lucio L; Usiello, Alessandro A
Publication Date: 2022-08-01
Variant appearance in text: UCP3: 304G>A; Val102Ile; rs2229707
Integrative proteogenomic characterization of hepatocellular carcinoma across etiologies and stages.
Nature Communications
Ng, Charlotte K Y CKY; Dazert, Eva E; Boldanova, Tuyana T; Coto-Llerena, Mairene M; Nuciforo, Sandro S; Ercan, Caner C; Suslov, Aleksei A; Meier, Marie-Anne MA; Bock, Thomas T; Schmidt, Alexander A; Ketterer, Sylvia S; Wang, Xueya X; Wieland, Stefan S; Matter, Matthias S MS; Colombi, Marco M; Piscuoglio, Salvatore S; Terracciano, Luigi M LM; Hall, Michael N MN; Heim, Markus H MH
Publication Date: 2022-05-04
Variant appearance in text: UCP3: 304G>A; Val102Ile; rs2229707
Reference exome data for a Northern Brazilian population.
Scientific Data
Weeks, Alexia L AL; Francis, Richard W RW; Neri, Joao I C F JICF; Costa, Nathaly M C NMC; Arrais, Nivea M R NMR; Lassmann, Timo T; Blackwell, Jenefer M JM; Jeronimo, Selma M B SMB
Publication Date: 2020-10-21
Variant appearance in text: UCP3: 304G>A; Val102Ile; rs2229707
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
American Journal Of Human Genetics
Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN
Publication Date: 2019-02-07
Variant appearance in text: UCP3: V102I; rs2229707
Development and validation of a targeted next generation DNA sequencing panel outperforming whole exome sequencing for the identification of clinically relevant genetic variants.
Oncotarget
Miller, Eirwen M EM; Patterson, Nicole E NE; Zechmeister, Jenna Marcus JM; Bejerano-Sagie, Michal M; Delio, Maria M; Patel, Kunjan K; Ravi, Nivedita N; Quispe-Tintaya, Wilber W; Maslov, Alexander A; Simmons, Nichelle N; Castaldi, Maria M; Vijg, Jan J; Karabakhtsian, Rouzan G RG; Greally, John M JM; Kuo, Dennis Y S DYS; Montagna, Cristina C
Publication Date: 2017-11-24
Variant appearance in text: UCP3: V102I; rs2229707
Molecular dissection of colorectal cancer in pre-clinical models identifies biomarkers predicting sensitivity to EGFR inhibitors.
Nature Communications
Schütte, Moritz M; Risch, Thomas T; Abdavi-Azar, Nilofar N; Boehnke, Karsten K; Schumacher, Dirk D; Keil, Marlen M; Yildiriman, Reha R; Jandrasits, Christine C; Borodina, Tatiana T; Amstislavskiy, Vyacheslav V; Worth, Catherine L CL; Schweiger, Caroline C; Liebs, Sandra S; Lange, Martin M; Warnatz, Hans-Jörg HJ; Butcher, Lee M LM; Barrett, James E JE; Sultan, Marc M; Wierling, Christoph C; Golob-Schwarzl, Nicole N; Lax, Sigurd S; Uranitsch, Stefan S; Becker, Michael M; Welte, Yvonne Y; Regan, Joseph Lewis JL; Silvestrov, Maxine M; Kehler, Inge I; Fusi, Alberto A; Kessler, Thomas T; Herwig, Ralf R; Landegren, Ulf U; Wienke, Dirk D; Nilsson, Mats M; Velasco, Juan A JA; Garin-Chesa, Pilar P; Reinhard, Christoph C; Beck, Stephan S; Schäfer, Reinhold R; Regenbrecht, Christian R A CR; Henderson, David D; Lange, Bodo B; Haybaeck, Johannes J; Keilholz, Ulrich U; Hoffmann, Jens J; Lehrach, Hans H; Yaspo, Marie-Laure ML
Publication Date: 2017-02-10
Variant appearance in text: UCP3: V102I; rs2229707
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: UCP3: V102I; rs2229707
Genetic and physiologic analysis of the role of uncoupling protein 3 in human energy homeostasis.
Diabetes
Chung, W K WK; Luke, A A; Cooper, R S RS; Rotini, C C; Vidal-Puig, A A; Rosenbaum, M M; Chua, M M; Solanes, G G; Zheng, M M; Zhao, L L; LeDuc, C C; Eisberg, A A; Chu, F F; Murphy, E E; Schreier, M M; Aronne, L L; Caprio, S S; Kahle, B B; Gordon, D D; Leal, S M SM; Goldsmith, R R; Andreu, A L AL; Bruno, C C; DiMauro, S S; Leibel, R L RL