mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Recurrent inactivating RASA2 mutations in melanoma.
Nature Genetics
Arafeh, Rand R; Qutob, Nouar N; Emmanuel, Rafi R; Keren-Paz, Alona A; Madore, Jason J; Elkahloun, Abdel A; Wilmott, James S JS; Gartner, Jared J JJ; Di Pizio, Antonella A; Winograd-Katz, Sabina S; Sindiri, Sivasish S; Rotkopf, Ron R; Dutton-Regester, Ken K; Johansson, Peter P; Pritchard, Antonia L AL; Waddell, Nicola N; Hill, Victoria K VK; Lin, Jimmy C JC; Hevroni, Yael Y; Rosenberg, Steven A SA; Khan, Javed J; Ben-Dor, Shifra S; Niv, Masha Y MY; Ulitsky, Igor I; Mann, Graham J GJ; Scolyer, Richard A RA; Hayward, Nicholas K NK; Samuels, Yardena Y
A highly recurrent RPS27 5'UTR mutation in melanoma.
Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Mutations in TMEM76* cause mucopolysaccharidosis IIIC (Sanfilippo C syndrome).
American Journal Of Human Genetics
Hrebícek, Martin M; Mrázová, Lenka L; Seyrantepe, Volkan V; Durand, Stéphanie S; Roslin, Nicole M NM; Nosková, Lenka L; Hartmannová, Hana H; Ivánek, Robert R; Cízkova, Alena A; Poupetová, Helena H; Sikora, Jakub J; Urinovská, Jana J; Stranecký, Viktor V; Zeman, Jirí J; Lepage, Pierre P; Roquis, David D; Verner, Andrei A; Ausseil, Jérome J; Beesley, Clare E CE; Maire, Irène I; Poorthuis, Ben J H M BJ; van de Kamp, Jiddeke J; van Diggelen, Otto P OP; Wevers, Ron A RA; Hudson, Thomas J TJ; Fujiwara, T Mary TM; Majewski, Jacek J; Morgan, Kenneth K; Kmoch, Stanislav S; Pshezhetsky, Alexey V AV