CNGB1-related rod-cone dystrophy: A mutation review and update.
Human Mutation
Nassisi, Marco M; Smirnov, Vasily M VM; Solis Hernandez, Cyntia C; Mohand-Saïd, Saddek S; Condroyer, Christel C; Antonio, Aline A; Kühlewein, Laura L; Kempf, Melanie M; Kohl, Susanne S; Wissinger, Bernd B; Nasser, Fadi F; Ragi, Sara D SD; Wang, Nan-Kai NK; Sparrow, Janet R JR; Greenstein, Vivienne C VC; Michalakis, Stylianos S; Mahroo, Omar A OA; Ba-Abbad, Rola R; Michaelides, Michel M; Webster, Andrew R AR; Degli Esposti, Simona S; Saffren, Brooke B; Capasso, Jenina J; Levin, Alex A; Hauswirth, William W WW; Dhaenens, Claire-Marie CM; Defoort-Dhellemmes, Sabine S; Tsang, Stephen H SH; Zrenner, Eberhart E; Sahel, Jose-Alain JA; Petersen-Jones, Simon M SM; Zeitz, Christina C; Audo, Isabelle I
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
DNA methylation loss promotes immune evasion of tumours with high mutation and copy number load.
Nature Communications
Jung, Hyunchul H; Kim, Hong Sook HS; Kim, Jeong Yeon JY; Sun, Jong-Mu JM; Ahn, Jin Seok JS; Ahn, Myung-Ju MJ; Park, Keunchil K; Esteller, Manel M; Lee, Se-Hoon SH; Choi, Jung Kyoon JK
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
The Journal Of Clinical Investigation
Petersen-Jones, Simon M SM; Occelli, Laurence M LM; Winkler, Paige A PA; Lee, Winston W; Sparrow, Janet R JR; Tsukikawa, Mai M; Boye, Sanford L SL; Chiodo, Vince V; Capasso, Jenina E JE; Becirovic, Elvir E; Schön, Christian C; Seeliger, Mathias W MW; Levin, Alex V AV; Michalakis, Stylianos S; Hauswirth, William W WW; Tsang, Stephen H SH
Publication Date: 2018-01-02
Variant appearance in text: CNGB1: 1589C>G; Pro530Arg
A Landscape of Pharmacogenomic Interactions in Cancer.
Cell
Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ